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Phenotypic Abnormality (PA): Abnormality of the nervous system
(show info)
Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Superfamily domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Notch domain | 0 | DIRECT |
| GAF domain-like | 0 | DIRECT |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
| Tricorn protease domain 2 | 0 | DIRECT |
| Hect, E3 ligase catalytic domain | 0 | DIRECT |
| Putative DNA-binding domain | 0 | DIRECT |
| Acyl-CoA dehydrogenase C-terminal domain-like | 0 | DIRECT |
| DHS-like NAD/FAD-binding domain | 0 | DIRECT |
| Rhodanese/Cell cycle control phosphatase | 0 | DIRECT |
| Multidrug resistance efflux transporter EmrE | 0 | DIRECT |
| FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
| L27 domain | 0 | DIRECT |
| Methylglyoxal synthase-like | 0 | DIRECT |
| beta-sandwich domain of Sec23/24 | 0 | DIRECT |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
| SNARE fusion complex | 0 | DIRECT |
| Translation proteins | 0 | DIRECT |
| Aminoacid dehydrogenase-like, N-terminal domain | 0 | DIRECT |
| Acyl-CoA N-acyltransferases (Nat) | 0 | DIRECT |
| HIT-like | 0 | DIRECT |
| Lamin A/C globular tail domain | 0 | DIRECT |
| Calcium-dependent phosphotriesterase | 0 | DIRECT |
| EF-G C-terminal domain-like | 0 | DIRECT |
| Arginase/deacetylase | 0 | DIRECT |
| ADC-like | 0 | DIRECT |
| GroEL-intermediate domain like | 0 | DIRECT |
| Neurotransmitter-gated ion-channel transmembrane pore | 0 | DIRECT |
| Hook domain | 0 | DIRECT |
| Cytochrome b5-like heme/steroid binding domain | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| CRAL/TRIO domain | 0 | DIRECT |
| CalX-like | 0 | DIRECT |
| Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | DIRECT |
| Restriction endonuclease-like | 0 | DIRECT |
| Subtilisin-like | 0 | DIRECT |
| RuvA domain 2-like | 0 | DIRECT |
| Isocitrate/Isopropylmalate dehydrogenase-like | 0 | DIRECT |
| Helical domain of Sec23/24 | 0 | DIRECT |
| Pseudouridine synthase | 0 | DIRECT |
| L-aspartase-like | 0 | DIRECT |
| Cyclin-like | 0 | DIRECT |
| CoA-dependent acyltransferases | 0 | DIRECT |
| Glycerol-3-phosphate (1)-acyltransferase | 0 | DIRECT |
| FKBP-like | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| GroES-like | 0 | DIRECT |
| 4Fe-4S ferredoxins | 0 | DIRECT |
| UBA-like | 0 | DIRECT |
| Acyl-CoA dehydrogenase NM domain-like | 0 | DIRECT |
| SAND domain-like | 0 | DIRECT |
| Transcription factor STAT-4 N-domain | 0 | DIRECT |
| DNA/RNA polymerases | 0 | DIRECT |
| NTF2-like | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| Proton glutamate symport protein | 0 | DIRECT |
| Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | DIRECT |
| Ribonuclease PH domain 2-like | 0 | DIRECT |
| tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
| STAT | 0 | DIRECT |
| GroEL apical domain-like | 0 | DIRECT |
| ValRS/IleRS/LeuRS editing domain | 0 | DIRECT |
| Alkaline phosphatase-like | 0 | DIRECT |
| ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase | 0 | DIRECT |
| Thiolase-like | 0 | DIRECT |
| PP2C-like | 0 | DIRECT |
| S15/NS1 RNA-binding domain | 0 | DIRECT |
| LuxS/MPP-like metallohydrolase | 0 | DIRECT |
| Adenine nucleotide alpha hydrolases-like | 0 | DIRECT |
| SNF-like | 0 | DIRECT |
| CCCH zinc finger | 0 | DIRECT |
| JAB1/MPN domain | 0 | DIRECT |
| GroEL equatorial domain-like | 0 | DIRECT |
| beta and beta-prime subunits of DNA dependent RNA-polymerase | 0 | DIRECT |
| Nicotinic receptor ligand binding domain-like | 0 | DIRECT |
| Actin depolymerizing proteins | 0 | DIRECT |
| BRK domain-like | 0 | DIRECT |
| Nucleotidylyl transferase | 0.01591 | INHERITED FROM: Hypoplasia of the corpus callosum || Global developmental delay |
| Voltage-gated potassium channels | 0.03411 | INHERITED FROM: Periodic hypokalemic paresis || Febrile seizures || Involuntary movements || EEG abnormality || Abnormal autonomic nervous system physiology || Obsessive-compulsive trait || Myoclonus || Encephalopathy || Interictal EEG abnormality || EEG with generalized epileptiform discharges || Periodic paralysis || Dyskinesia || Respiratory paralysis || Pain insensitivity || Status epilepticus || EEG with multifocal slow activity || Epileptic encephalopathy |
| Ribosomal protein S5 domain 2-like | 0.03564 | INHERITED FROM: Agnosia || Neoplasm of the anterior pituitary || Neuroblastic tumor || Migraine || Benign neoplasm of the central nervous system || Dysgraphia || Malignant neoplasm of the central nervous system || Pituitary adenoma || Glioblastoma multiforme || Abnormality of intracranial pressure || Glioma || Neuroblastoma |
| Bromodomain | 0.0525 | INHERITED FROM: Phonophobia || Abnormal aggressive, impulsive or violent behavior || Hyperactivity || Sound sensitivity || Intellectual disability || Spina bifida occulta || Abnormal fear/anxiety-related behavior |
| Actin-like ATPase domain | 0.0525 | INHERITED FROM: Subcortical cerebral atrophy || Transient ischemic attack |
| cAMP-binding domain-like | 0.07681 | INHERITED FROM: Photophobia |
| Ribonuclease H-like | 0.09278 | INHERITED FROM: Demyelinating peripheral neuropathy || Progressive microcephaly |
| Nucleotide-diphospho-sugar transferases | 0.09841 | INHERITED FROM: Cerebellar cyst || Macrogyria || Type II lissencephaly || Hypoplasia of the pons |
| ARM repeat | 0.1183 | INHERITED FROM: Abnormal cerebellum morphology || Abnormality of the glial cells || Abnormality of nervous system morphology || Abnormality of the cerebrum |
| (Trans)glycosidases | 0.1496 | INHERITED FROM: Cognitive impairment |
| Periplasmic binding protein-like II | 0.1625 | INHERITED FROM: Hypoplasia of the corpus callosum || EEG with generalized epileptiform discharges || Abnormality of central motor function || Upper motor neuron dysfunction |
| WD40 repeat-like | 0.1693 | INHERITED FROM: Aplasia/Hypoplasia involving the central nervous system || Aplasia/Hypoplasia of the cerebellar vermis || Abnormality of the cerebral ventricles || Abnormal cerebellum morphology || Abnormality of the cerebrum |
| Single hybrid motif | 0.1947 | INHERITED FROM: Psychomotor retardation || Lethargy |
| Glycosyl hydrolase domain | 0.1947 | INHERITED FROM: Cognitive impairment || Abnormal autonomic nervous system physiology || Paresthesia |
| PreATP-grasp domain | 0.1947 | INHERITED FROM: Coma |
| S-adenosyl-L-methionine-dependent methyltransferases | 0.2515 | INHERITED FROM: Intellectual disability, moderate |
| C2 domain (Calcium/lipid-binding domain, CaLB) | 0.2523 | INHERITED FROM: Molar tooth sign on MRI |
| Chaperone J-domain | 0.2729 | INHERITED FROM: Parkinsonism |
| Thiamin diphosphate-binding fold (THDP-binding) | 0.2814 | INHERITED FROM: Lethargy |
| GST C-terminal domain-like | 0.2814 | INHERITED FROM: Intellectual disability, profound || Gait disturbance || Inability to walk |
| GLA-domain | 0.2814 | INHERITED FROM: Abnormality of the cerebral vasculature |
| MIR domain | 0.2814 | INHERITED FROM: Abnormal synaptic transmission || Fatigable weakness |
| SET domain | 0.2847 | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior || Global developmental delay || Ventriculomegaly |
| UDP-Glycosyltransferase/glycogen phosphorylase | 0.314 | INHERITED FROM: Abnormal cranial nerve morphology |
| Cysteine proteinases | 0.3148 | INHERITED FROM: Babinski sign || Abnormal superficial reflex |
| Class II aaRS and biotin synthetases | 0.3197 | INHERITED FROM: Hypoplasia of the corpus callosum || Distal sensory impairment || Abnormal CNS myelination || Abnormality of the cerebral white matter |
| RNI-like | 0.3211 | INHERITED FROM: Meningitis || Unusual CNS infection |
| HSP20-like chaperones | 0.338 | INHERITED FROM: Hyporeflexia || Hyporeflexia of lower limbs || Areflexia of lower limbs |
| ARID-like | 0.338 | INHERITED FROM: Cerebellar cyst || Aplasia/Hypoplasia of the cerebellar vermis || Hypoplasia of the corpus callosum || Cerebellar vermis hypoplasia || Spina bifida || Dilated fourth ventricle || Abnormality of the fourth ventricle || Spinal dysraphism || Partial agenesis of the corpus callosum || Spina bifida occulta || Delayed speech and language development || Dandy-Walker malformation |
| Kelch motif | 0.4051 | INHERITED FROM: Abnormality of the seventh cranial nerve |
| Periplasmic binding protein-like I | 0.4051 | INHERITED FROM: EEG with generalized epileptiform discharges || Epileptic encephalopathy || Upper motor neuron dysfunction |
| Ypt/Rab-GAP domain of gyp1p | 0.4054 | INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar vermis hypoplasia || Abnormality of the cerebellar vermis |
| Sema domain | 0.4716 | INHERITED FROM: Abnormality of the sense of smell |
| Mitochondrial carrier | 0.4779 | INHERITED FROM: Reduced consciousness/confusion || Encephalopathy || Lethargy |
| Anaphylotoxins (complement system) | 0.4864 | INHERITED FROM: Unusual CNS infection |
| Rudiment single hybrid motif | 0.4864 | INHERITED FROM: Psychomotor retardation |
| DNA repair protein MutS, domain III | 0.4864 | INHERITED FROM: Malignant neoplasm of the central nervous system || Neoplasm of the nervous system || Neoplasm of the central nervous system || Abnormality of the astrocytes || Astrocytoma || Abnormality of the glial cells || Glioma |
| Cap-Gly domain | 0.4864 | INHERITED FROM: Depressivity || Sleep disturbance |
| p53-like transcription factors | 0.5194 | INHERITED FROM: Anterior hypopituitarism |
| Alpha-macroglobulin receptor domain | 0.5357 | INHERITED FROM: Unusual CNS infection |
| Thioredoxin-like | 0.5371 | INHERITED FROM: Abnormal CSF lactate level || Abnormality of the cerebrospinal fluid |
| RNA-binding domain, RBD | 0.5663 | INHERITED FROM: Abnormal neuron morphology || Abnormal motor neuron morphology || Fatigable weakness of swallowing muscles || Mutism || Dyscalculia || Fatigable weakness of respiratory muscles || Motor neuron atrophy || Perseveration || Paralysis || Agitation || Fatigable weakness of bulbar muscles |
| SH2 domain | 0.5952 | INHERITED FROM: Unusual CNS infection |
| NagB/RpiA/CoA transferase-like | 0.604 | INHERITED FROM: Gliosis || Personality changes || Leukoencephalopathy || Cessation of head growth || Delusions || CNS hypomyelination || Memory impairment || Emotional lability || Unsteady gait || Abnormal CNS myelination || Lethargy |
| MHC antigen-recognition domain | 0.6133 | INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection |
| Tubulin nucleotide-binding domain-like | 0.6189 | INHERITED FROM: Abnormality of the cerebral cortex || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem || Abnormality of brainstem morphology || Abnormal cortical gyration |
| Nuclear receptor ligand-binding domain | 0.6653 | INHERITED FROM: Hyperpituitarism |
| Tubulin C-terminal domain-like | 0.6692 | INHERITED FROM: Abnormality of the cerebral cortex || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem || Abnormality of brainstem morphology || Abnormal cortical gyration |
| Myosin rod fragments | 0.6722 | INHERITED FROM: Cerebral ischemia |
| Fibrinogen C-terminal domain-like | 0.6722 | INHERITED FROM: Abnormality of the cerebral vasculature |
| Terpenoid cyclases/Protein prenyltransferases | 0.6722 | INHERITED FROM: Unusual CNS infection |
| Integrin domains | 0.733 | INHERITED FROM: Abnormal subarachnoid space morphology || Subarachnoid hemorrhage || Cerebral palsy |
| ClpP/crotonase | 0.7714 | INHERITED FROM: Coma |
| PH domain-like | 0.8204 | INHERITED FROM: Abnormality of peripheral nerve conduction || Abnormal nerve conduction velocity || Decreased nerve conduction velocity |
| vWA-like | 0.8207 | INHERITED FROM: Torticollis |
| KRAB domain (Kruppel-associated box) | 0.9061 | INHERITED FROM: Generalized tonic-clonic seizures |
| TIMP-like | 0.9089 | INHERITED FROM: Unusual CNS infection |
| Snake toxin-like | 0.9151 | INHERITED FROM: Ischemic stroke || Abnormal subarachnoid space morphology || Subarachnoid hemorrhage || Transient ischemic attack |
| DEATH domain | 0.957 | INHERITED FROM: Headache || Unusual CNS infection |
| Intermediate filament protein, coiled coil region | 0.9731 | INHERITED FROM: Pseudobulbar paralysis || Abnormal synaptic transmission || Fatigable weakness |
| Homeodomain-like | 0.9827 | INHERITED FROM: Agenesis of corpus callosum || Optic nerve hypoplasia || Pituitary dwarfism || Posterior pituitary dysgenesis || Anterior pituitary dysgenesis || Holoprosencephaly || Septo-optic dysplasia || Ectopic anterior pituitary gland |
| Immunoglobulin | 1 | INHERITED FROM: Meningitis |
| Cytochrome P450 | 1 | INHERITED FROM: Adrenocorticotropic hormone excess |
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Family(show details)
Family domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | DIRECT |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| CalX-beta domain | 0 | DIRECT |
| Translational machinery components | 0 | DIRECT |
| a tRNA synthase domain | 0 | DIRECT |
| Amylase, catalytic domain | 0 | DIRECT |
| Caspase recruitment domain, CARD | 0 | DIRECT |
| Myotubularin-like phosphatases | 0 | DIRECT |
| Double-stranded RNA-binding domain (dsRBD) | 0 | DIRECT |
| Ferredoxin domains from multidomain proteins | 0 | DIRECT |
| Aminoacid dehydrogenase-like, C-terminal domain | 0 | DIRECT |
| Single strand DNA-binding domain, SSB | 0 | DIRECT |
| Filamin repeat (rod domain) | 0 | DIRECT |
| Protein serine/threonine phosphatase | 0 | DIRECT |
| Cytoplasmic domain of inward rectifier potassium channel | 0 | DIRECT |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
| L27 domain | 0 | DIRECT |
| Helical domain of Sec23/24 | 0 | DIRECT |
| ValRS/IleRS/LeuRS editing domain | 0 | DIRECT |
| DNA gyrase/MutL, second domain | 0 | DIRECT |
| Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | DIRECT |
| N-acetyl transferase, NAT | 0 | DIRECT |
| Alcohol dehydrogenase-like, N-terminal domain | 0 | DIRECT |
| Serum paraoxonase/arylesterase 1, PON1 | 0 | DIRECT |
| Elongation factors | 0 | DIRECT |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
| Clathrin adaptor core protein | 0 | DIRECT |
| Lamin A/C globular tail domain | 0 | DIRECT |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| Glycosyl transferases group 1 | 0 | DIRECT |
| Cytochrome b5 | 0 | DIRECT |
| p120GAP domain-like | 0 | DIRECT |
| SNARE fusion complex | 0 | DIRECT |
| Arylsulfatase | 0 | DIRECT |
| Phosphate binding protein-like | 0 | DIRECT |
| BRK domain-like | 0 | DIRECT |
| SWIRM domain | 0 | DIRECT |
| beta-glycanases | 0 | DIRECT |
| tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
| MPP-like | 0 | DIRECT |
| Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | DIRECT |
| Alcohol dehydrogenase-like, C-terminal domain | 0 | DIRECT |
| SNF-like | 0 | DIRECT |
| Neurotransmitter-gated ion-channel transmembrane pore | 0 | DIRECT |
| RhoGDI-like | 0 | DIRECT |
| FAD/NAD-linked reductases, N-terminal and central domains | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| PP2C-like | 0 | DIRECT |
| CUT domain | 0 | DIRECT |
| Cyclin | 0 | DIRECT |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0 | DIRECT |
| Proton glutamate symport protein | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| Subtilases | 0 | DIRECT |
| CAT-like | 0 | DIRECT |
| XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
| Choline/Carnitine O-acyltransferase | 0 | DIRECT |
| FKBP immunophilin/proline isomerase | 0 | DIRECT |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0 | DIRECT |
| Transcription factor STAT-4 N-domain | 0 | DIRECT |
| Branched-chain alpha-keto acid dehydrogenase PP module | 0 | DIRECT |
| GAF domain | 0 | DIRECT |
| Histone deacetylase, HDAC | 0 | DIRECT |
| Pyridoxal-dependent decarboxylase | 0 | DIRECT |
| Nicotinic receptor ligand binding domain-like | 0 | DIRECT |
| Hect, E3 ligase catalytic domain | 0 | DIRECT |
| Prefoldin | 0 | DIRECT |
| L-aspartase/fumarase | 0 | DIRECT |
| Ribonuclease PH domain 1-like | 0 | DIRECT |
| Long-chain cytokines | 0 | DIRECT |
| C5 cytosine-specific DNA methylase, DCM | 0 | DIRECT |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | DIRECT |
| STAT DNA-binding domain | 0 | DIRECT |
| Exostosin | 0 | DIRECT |
| Histone lysine methyltransferases | 0 | DIRECT |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
| Putative glucosidase YicI, domain 3 | 0 | DIRECT |
| Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain | 0 | DIRECT |
| EF-G/eEF-2 domains III and V | 0 | DIRECT |
| Group II chaperonin (CCT, TRIC), apical domain | 0 | DIRECT |
| FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
| UBA domain | 0 | DIRECT |
| Ferredoxin reductase FAD-binding domain-like | 0 | DIRECT |
| Ribonuclease PH domain 2-like | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | DIRECT |
| beta-sandwich domain of Sec23/24 | 0 | DIRECT |
| Trunk domain of Sec23/24 | 0 | DIRECT |
| DEP domain | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| Anticodon-binding domain | 0 | DIRECT |
| PWWP domain | 0 | DIRECT |
| DNA gyrase/MutL, N-terminal domain | 0 | DIRECT |
| DNA polymerase I | 0 | DIRECT |
| SPRY domain | 0 | DIRECT |
| JAB1/MPN domain | 0 | DIRECT |
| IF2B-like | 0 | DIRECT |
| STAT | 0 | DIRECT |
| TBP-associated factors, TAFs | 0 | DIRECT |
| Cold shock DNA-binding domain-like | 0 | DIRECT |
| G proteins | 0.02386 | INHERITED FROM: Abnormality of the cerebrum || Abnormal corpus callosum morphology |
| Bromodomain | 0.03834 | INHERITED FROM: Microcephaly || Phonophobia || Abnormal aggressive, impulsive or violent behavior || Hyperactivity || Sound sensitivity || Intellectual disability || Spina bifida occulta || Abnormal fear/anxiety-related behavior |
| Voltage-gated potassium channels | 0.07048 | INHERITED FROM: Interictal EEG abnormality || EEG with generalized epileptiform discharges || Epileptic encephalopathy |
| Tyrosine-dependent oxidoreductases | 0.08626 | INHERITED FROM: Hyperpituitarism |
| Extended AAA-ATPase domain | 0.08626 | INHERITED FROM: Abnormality of the corticospinal tract || Neurodevelopmental abnormality || Spasticity || Ataxia || Impaired vibration sensation in the lower limbs || Morphological abnormality of the central nervous system || Abnormality of higher mental function |
| cAMP-binding domain | 0.08823 | INHERITED FROM: Photophobia |
| PHD domain | 0.1026 | INHERITED FROM: Microcephaly || Delayed speech and language development |
| FHA domain | 0.1322 | INHERITED FROM: Malignant neoplasm of the central nervous system || Areflexia || Abnormal peripheral myelination |
| HMG-box | 0.1594 | INHERITED FROM: Abnormality of the sense of smell || Global developmental delay |
| Actin/HSP70 | 0.1616 | INHERITED FROM: Stroke || Transient ischemic attack || Cerebral ischemia |
| Biotinyl/lipoyl-carrier proteins and domains | 0.1616 | INHERITED FROM: Psychomotor retardation || Lethargy |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.1976 | INHERITED FROM: Abnormality of the cerebral cortex || Abnormality of neuronal migration || Abnormal cortical gyration |
| Chaperone J-domain | 0.2319 | INHERITED FROM: Parkinsonism |
| Protein kinase cysteine-rich domain (cys2, phorbol-binding domain) | 0.2319 | INHERITED FROM: Spina bifida occulta |
| GLA-domain | 0.2421 | INHERITED FROM: Abnormality of the cerebral vasculature |
| MIR domain | 0.2421 | INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Abnormal synaptic transmission || Fatigable weakness || Cerebellar hypoplasia |
| Transforming growth factor (TGF)-beta | 0.2427 | INHERITED FROM: Transient ischemic attack |
| Tetramerization domain of potassium channels | 0.2714 | INHERITED FROM: Focal dystonia || Myoclonus || Cerebellar atrophy |
| BC N-terminal domain-like | 0.2957 | INHERITED FROM: Psychomotor retardation || Coma || Lethargy |
| Clathrin coat assembly domain | 0.2957 | INHERITED FROM: Poor speech |
| ARID domain | 0.2957 | INHERITED FROM: Cerebellar cyst || Aplasia/Hypoplasia of the cerebellar vermis || Hypoplasia of the corpus callosum || Microcephaly || Central nervous system cyst || Cerebellar vermis hypoplasia || Spina bifida || Dilated fourth ventricle || Abnormality of the fourth ventricle || Spinal dysraphism || Partial agenesis of the corpus callosum || Abnormality of the cerebellar vermis || Spina bifida occulta || Delayed speech and language development || Dandy-Walker malformation |
| BC ATP-binding domain-like | 0.2957 | INHERITED FROM: Psychomotor retardation || Coma || Lethargy |
| Kelch motif | 0.3593 | INHERITED FROM: Abnormality of the seventh cranial nerve |
| Pyrin domain, PYD | 0.3624 | INHERITED FROM: Headache || Photophobia |
| Transducin (alpha subunit), insertion domain | 0.3685 | INHERITED FROM: Cerebral calcification || Paresthesia |
| 28-residue LRR | 0.3685 | INHERITED FROM: Photophobia |
| Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.388 | INHERITED FROM: Hypoplasia of the corpus callosum || Distal sensory impairment || Cerebellar atrophy || Abnormal CNS myelination || Abnormality of the cerebral white matter |
| Sema domain | 0.4275 | INHERITED FROM: Abnormality of the sense of smell |
| Mitochondrial carrier | 0.4306 | INHERITED FROM: Reduced consciousness/confusion || Encephalopathy || Lethargy |
| Ypt/Rab-GAP domain of gyp1p | 0.4435 | INHERITED FROM: Hypoplasia of the corpus callosum |
| DNA repair protein MutS, domain III | 0.4435 | INHERITED FROM: Malignant neoplasm of the central nervous system || Neoplasm of the nervous system || Neoplasm of the central nervous system || Abnormality of the astrocytes || Astrocytoma || Abnormality of the glial cells || Glioma |
| ZZ domain | 0.4435 | INHERITED FROM: Hyperactivity || Autistic behavior || Short attention span |
| Netrin-like domain (NTR/C345C module) | 0.4435 | INHERITED FROM: Unusual CNS infection |
| Anaphylotoxins (complement system) | 0.4435 | INHERITED FROM: Unusual CNS infection |
| Glutathione S-transferase (GST), C-terminal domain | 0.4435 | INHERITED FROM: Abnormal myelination |
| BC C-terminal domain-like | 0.4435 | INHERITED FROM: Psychomotor retardation |
| Cap-Gly domain | 0.4435 | INHERITED FROM: Depressivity || Sleep disturbance |
| L-arabinose binding protein-like | 0.4575 | INHERITED FROM: Absent speech || Hypsarrhythmia || Epileptic encephalopathy || Upper motor neuron dysfunction |
| Alpha-macroglobulin receptor domain | 0.4911 | INHERITED FROM: Unusual CNS infection |
| Complement components | 0.4911 | INHERITED FROM: Unusual CNS infection |
| Nuclear receptor | 0.5396 | INHERITED FROM: Hyperpituitarism |
| SH2 domain | 0.5475 | INHERITED FROM: Unusual CNS infection |
| VWC domain | 0.562 | INHERITED FROM: Migraine || Spina bifida || Abnormality of the spinal cord |
| MHC antigen-recognition domain | 0.5702 | INHERITED FROM: Hemiplegia/hemiparesis || Peripheral neuropathy || Meningitis || Unusual CNS infection |
| Tubulin, GTPase domain | 0.5753 | INHERITED FROM: Abnormality of lateral ventricle || Abnormality of the cerebral cortex || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem || Abnormality of brainstem morphology || Abnormal cortical gyration |
| PDZ domain | 0.5785 | INHERITED FROM: Subcortical cerebral atrophy |
| Canonical RBD | 0.6191 | INHERITED FROM: Abnormal neuron morphology || Abnormal lower motor neuron morphology || Abnormal motor neuron morphology || Fatigable weakness of swallowing muscles || Mutism || Restlessness || Dyscalculia || Fatigable weakness of respiratory muscles || Motor neuron atrophy || Abnormal synaptic transmission || Perseveration || Anxiety || Paralysis || Agitation || Fatigable weakness of bulbar muscles |
| Nuclear receptor ligand-binding domain | 0.6219 | INHERITED FROM: Hyperpituitarism |
| C1 set domains (antibody constant domain-like) | 0.6286 | INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection |
| Tubulin, C-terminal domain | 0.6286 | INHERITED FROM: Abnormality of lateral ventricle || Abnormality of the cerebral cortex || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem || Abnormality of brainstem morphology || Abnormal cortical gyration |
| Fibrinogen C-terminal domain-like | 0.633 | INHERITED FROM: Abnormality of the cerebral vasculature |
| Myosin rod fragments | 0.633 | INHERITED FROM: Abnormality of peripheral nervous system electrophysiology || Cerebral ischemia |
| RecA protein-like (ATPase-domain) | 0.633 | INHERITED FROM: Abnormality of the autonomic nervous system || Abnormality of the peripheral nervous system |
| Ras-binding domain, RBD | 0.6409 | INHERITED FROM: Neuroblastic tumor || Abnormal neural tube morphology || Malignant neoplasm of the central nervous system || Neoplasm of the nervous system || Neoplasm of the central nervous system || Spinal dysraphism || Neuroblastoma |
| Integrin domains | 0.6974 | INHERITED FROM: Abnormal subarachnoid space morphology || Intracranial hemorrhage || Subarachnoid hemorrhage || Cerebral palsy |
| T-box | 0.7684 | INHERITED FROM: Anencephaly |
| ABC transporter ATPase domain-like | 0.7887 | INHERITED FROM: Agnosia || Abnormality of the astrocytes || Astrocytoma |
| Integrin A (or I) domain | 0.7935 | INHERITED FROM: Focal dystonia || Craniofacial dystonia || Torticollis || Frequent falls |
| Crotonase-like | 0.8858 | INHERITED FROM: Abnormality of the basal ganglia |
| KRAB domain (Kruppel-associated box) | 0.8858 | INHERITED FROM: Generalized tonic-clonic seizures |
| Intermediate filament protein, coiled coil region | 0.96 | INHERITED FROM: Pseudobulbar paralysis || Pseudobulbar signs || Abnormal synaptic transmission || Fatigable weakness |
| Complement control module/SCR domain | 0.9759 | INHERITED FROM: Dysphasia |
| Cytochrome P450 | 0.977 | INHERITED FROM: Adrenocorticotropic hormone excess |
| Nucleotide and nucleoside kinases | 0.9885 | INHERITED FROM: Febrile seizures || Episodic ataxia || EEG with spike-wave complexes |
| Homeodomain | 0.994 | INHERITED FROM: Agenesis of corpus callosum || Optic nerve hypoplasia || Pituitary dwarfism || Posterior pituitary dysgenesis || Anterior pituitary dysgenesis || Holoprosencephaly || Septo-optic dysplasia || Ectopic anterior pituitary gland || Encephalocele |
| Second domain of FERM | 0.9981 | INHERITED FROM: Cerebral hemorrhage |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | Direct |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| CalX-beta domain | 0 | Direct |
| Translational machinery components | 0 | Direct |
| a tRNA synthase domain | 0 | Direct |
| Amylase, catalytic domain | 0 | Direct |
| Caspase recruitment domain, CARD | 0 | Direct |
| Myotubularin-like phosphatases | 0 | Direct |
| Double-stranded RNA-binding domain (dsRBD) | 0 | Direct |
| Ferredoxin domains from multidomain proteins | 0 | Direct |
| Aminoacid dehydrogenase-like, C-terminal domain | 0 | Direct |
| Single strand DNA-binding domain, SSB | 0 | Direct |
| Filamin repeat (rod domain) | 0 | Direct |
| Protein serine/threonine phosphatase | 0 | Direct |
| Cytoplasmic domain of inward rectifier potassium channel | 0 | Direct |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | Direct |
| L27 domain | 0 | Direct |
| Helical domain of Sec23/24 | 0 | Direct |
| ValRS/IleRS/LeuRS editing domain | 0 | Direct |
| DNA gyrase/MutL, second domain | 0 | Direct |
| Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | Direct |
| N-acetyl transferase, NAT | 0 | Direct |
| Alcohol dehydrogenase-like, N-terminal domain | 0 | Direct |
| Serum paraoxonase/arylesterase 1, PON1 | 0 | Direct |
| Elongation factors | 0 | Direct |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
| Clathrin adaptor core protein | 0 | Direct |
| Lamin A/C globular tail domain | 0 | Direct |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0 | Direct |
| Apolipoprotein A-I | 0 | Direct |
| Glycosyl transferases group 1 | 0 | Direct |
| Cytochrome b5 | 0 | Direct |
| p120GAP domain-like | 0 | Direct |
| SNARE fusion complex | 0 | Direct |
| Arylsulfatase | 0 | Direct |
| Phosphate binding protein-like | 0 | Direct |
| BRK domain-like | 0 | Direct |
| SWIRM domain | 0 | Direct |
| beta-glycanases | 0 | Direct |
| tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
| MPP-like | 0 | Direct |
| Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | Direct |
| Alcohol dehydrogenase-like, C-terminal domain | 0 | Direct |
| SNF-like | 0 | Direct |
| Neurotransmitter-gated ion-channel transmembrane pore | 0 | Direct |
| RhoGDI-like | 0 | Direct |
| FAD/NAD-linked reductases, N-terminal and central domains | 0 | Direct |
| Notch domain | 0 | Direct |
| PP2C-like | 0 | Direct |
| CUT domain | 0 | Direct |
| Cyclin | 0 | Direct |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0 | Direct |
| Proton glutamate symport protein | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| Subtilases | 0 | Direct |
| CAT-like | 0 | Direct |
| XPF/Rad1/Mus81 nuclease | 0 | Direct |
| Choline/Carnitine O-acyltransferase | 0 | Direct |
| FKBP immunophilin/proline isomerase | 0 | Direct |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0 | Direct |
| Transcription factor STAT-4 N-domain | 0 | Direct |
| Branched-chain alpha-keto acid dehydrogenase PP module | 0 | Direct |
| GAF domain | 0 | Direct |
| Histone deacetylase, HDAC | 0 | Direct |
| Pyridoxal-dependent decarboxylase | 0 | Direct |
| Nicotinic receptor ligand binding domain-like | 0 | Direct |
| Hect, E3 ligase catalytic domain | 0 | Direct |
| Prefoldin | 0 | Direct |
| L-aspartase/fumarase | 0 | Direct |
| Ribonuclease PH domain 1-like | 0 | Direct |
| Long-chain cytokines | 0 | Direct |
| C5 cytosine-specific DNA methylase, DCM | 0 | Direct |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | Direct |
| STAT DNA-binding domain | 0 | Direct |
| Exostosin | 0 | Direct |
| Histone lysine methyltransferases | 0 | Direct |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
| Putative glucosidase YicI, domain 3 | 0 | Direct |
| Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain | 0 | Direct |
| EF-G/eEF-2 domains III and V | 0 | Direct |
| Group II chaperonin (CCT, TRIC), apical domain | 0 | Direct |
| FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | Direct |
| UBA domain | 0 | Direct |
| Ferredoxin reductase FAD-binding domain-like | 0 | Direct |
| Ribonuclease PH domain 2-like | 0 | Direct |
| TB module/8-cys domain | 0 | Direct |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | Direct |
| beta-sandwich domain of Sec23/24 | 0 | Direct |
| Trunk domain of Sec23/24 | 0 | Direct |
| DEP domain | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| Anticodon-binding domain | 0 | Direct |
| PWWP domain | 0 | Direct |
| DNA gyrase/MutL, N-terminal domain | 0 | Direct |
| DNA polymerase I | 0 | Direct |
| SPRY domain | 0 | Direct |
| JAB1/MPN domain | 0 | Direct |
| IF2B-like | 0 | Direct |
| STAT | 0 | Direct |
| TBP-associated factors, TAFs | 0 | Direct |
| Cold shock DNA-binding domain-like | 0 | Direct |
| G proteins | 0.02386 | Inherited |
| Bromodomain | 0.03834 | Inherited |
| Voltage-gated potassium channels | 0.07048 | Inherited |
| Tyrosine-dependent oxidoreductases | 0.08626 | Inherited |
| Extended AAA-ATPase domain | 0.08626 | Inherited |
| cAMP-binding domain | 0.08823 | Inherited |
| PHD domain | 0.1026 | Inherited |
| FHA domain | 0.1322 | Inherited |
| HMG-box | 0.1594 | Inherited |
| Actin/HSP70 | 0.1616 | Inherited |
| Biotinyl/lipoyl-carrier proteins and domains | 0.1616 | Inherited |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.1976 | Inherited |
| Chaperone J-domain | 0.2319 | Inherited |
| Protein kinase cysteine-rich domain (cys2, phorbol-binding domain) | 0.2319 | Inherited |
| GLA-domain | 0.2421 | Inherited |
| MIR domain | 0.2421 | Inherited |
| Transforming growth factor (TGF)-beta | 0.2427 | Inherited |
| Tetramerization domain of potassium channels | 0.2714 | Inherited |
| BC N-terminal domain-like | 0.2957 | Inherited |
| Clathrin coat assembly domain | 0.2957 | Inherited |
| ARID domain | 0.2957 | Inherited |
| BC ATP-binding domain-like | 0.2957 | Inherited |
| Kelch motif | 0.3593 | Inherited |
| Pyrin domain, PYD | 0.3624 | Inherited |
| Transducin (alpha subunit), insertion domain | 0.3685 | Inherited |
| 28-residue LRR | 0.3685 | Inherited |
| Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.388 | Inherited |
| Sema domain | 0.4275 | Inherited |
| Mitochondrial carrier | 0.4306 | Inherited |
| Ypt/Rab-GAP domain of gyp1p | 0.4435 | Inherited |
| DNA repair protein MutS, domain III | 0.4435 | Inherited |
| ZZ domain | 0.4435 | Inherited |
| Netrin-like domain (NTR/C345C module) | 0.4435 | Inherited |
| Anaphylotoxins (complement system) | 0.4435 | Inherited |
| Glutathione S-transferase (GST), C-terminal domain | 0.4435 | Inherited |
| BC C-terminal domain-like | 0.4435 | Inherited |
| Cap-Gly domain | 0.4435 | Inherited |
| L-arabinose binding protein-like | 0.4575 | Inherited |
| Alpha-macroglobulin receptor domain | 0.4911 | Inherited |
| Complement components | 0.4911 | Inherited |
| Nuclear receptor | 0.5396 | Inherited |
| SH2 domain | 0.5475 | Inherited |
| VWC domain | 0.562 | Inherited |
| MHC antigen-recognition domain | 0.5702 | Inherited |
| Tubulin, GTPase domain | 0.5753 | Inherited |
| PDZ domain | 0.5785 | Inherited |
| Canonical RBD | 0.6191 | Inherited |
| Nuclear receptor ligand-binding domain | 0.6219 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.6286 | Inherited |
| Tubulin, C-terminal domain | 0.6286 | Inherited |
| Fibrinogen C-terminal domain-like | 0.633 | Inherited |
| Myosin rod fragments | 0.633 | Inherited |
| RecA protein-like (ATPase-domain) | 0.633 | Inherited |
| Ras-binding domain, RBD | 0.6409 | Inherited |
| Integrin domains | 0.6974 | Inherited |
| T-box | 0.7684 | Inherited |
| ABC transporter ATPase domain-like | 0.7887 | Inherited |
| Integrin A (or I) domain | 0.7935 | Inherited |
| Crotonase-like | 0.8858 | Inherited |
| KRAB domain (Kruppel-associated box) | 0.8858 | Inherited |
| Intermediate filament protein, coiled coil region | 0.96 | Inherited |
| Complement control module/SCR domain | 0.9759 | Inherited |
| Cytochrome P450 | 0.977 | Inherited |
| Nucleotide and nucleoside kinases | 0.9885 | Inherited |
| Homeodomain | 0.994 | Inherited |
| Second domain of FERM | 0.9981 | Inherited |
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Single) |
FDR (all) |
Annotation (direct or inherited) |
| Hook domain | 0 | DIRECT |
| Acyl-CoA N-acyltransferases (Nat) | 0 | DIRECT |
| FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
| Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| EF-G C-terminal domain-like | 0 | DIRECT |
| LuxS/MPP-like metallohydrolase | 0 | DIRECT |
| BRK domain-like | 0 | DIRECT |
| Adenine nucleotide alpha hydrolases-like | 0 | DIRECT |
| DHS-like NAD/FAD-binding domain | 0 | DIRECT |
| CalX-like | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| Isocitrate/Isopropylmalate dehydrogenase-like | 0 | DIRECT |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
| Tricorn protease domain 2 | 0 | DIRECT |
| Cytochrome b5-like heme/steroid binding domain | 0 | DIRECT |
| Pseudouridine synthase | 0 | DIRECT |
| S15/NS1 RNA-binding domain | 0 | DIRECT |
| Restriction endonuclease-like | 0 | DIRECT |
| RuvA domain 2-like | 0 | DIRECT |
| GroEL apical domain-like | 0 | DIRECT |
| Nicotinic receptor ligand binding domain-like | 0 | DIRECT |
| SAND domain-like | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| Proton glutamate symport protein | 0 | DIRECT |
| DNA/RNA polymerases | 0 | DIRECT |
| GAF domain-like | 0 | DIRECT |
| L-aspartase-like | 0 | DIRECT |
| Multidrug resistance efflux transporter EmrE | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| GroES-like | 0 | DIRECT |
| CoA-dependent acyltransferases | 0 | DIRECT |
| ValRS/IleRS/LeuRS editing domain | 0 | DIRECT |
| beta-sandwich domain of Sec23/24 | 0 | DIRECT |
| Putative DNA-binding domain | 0 | DIRECT |
| Transcription factor STAT-4 N-domain | 0 | DIRECT |
| Helical domain of Sec23/24 | 0 | DIRECT |
| PP2C-like | 0 | DIRECT |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
| CRAL/TRIO domain | 0 | DIRECT |
| Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | DIRECT |
| SNF-like | 0 | DIRECT |
| JAB1/MPN domain | 0 | DIRECT |
| Calcium-dependent phosphotriesterase | 0 | DIRECT |
| Hect, E3 ligase catalytic domain | 0 | DIRECT |
| UBA-like | 0 | DIRECT |
| SNARE fusion complex | 0 | DIRECT |
| Thiolase-like | 0 | DIRECT |
| HIT-like | 0 | DIRECT |
| Cyclin-like | 0 | DIRECT |
| Arginase/deacetylase | 0 | DIRECT |
| Actin depolymerizing proteins | 0 | DIRECT |
| Lamin A/C globular tail domain | 0 | DIRECT |
| ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase | 0 | DIRECT |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| 4Fe-4S ferredoxins | 0 | DIRECT |
| Alkaline phosphatase-like | 0 | DIRECT |
| Neurotransmitter-gated ion-channel transmembrane pore | 0 | DIRECT |
| L27 domain | 0 | DIRECT |
| Aminoacid dehydrogenase-like, N-terminal domain | 0 | DIRECT |
| GroEL equatorial domain-like | 0 | DIRECT |
| GroEL-intermediate domain like | 0 | DIRECT |
| Ribonuclease PH domain 2-like | 0 | DIRECT |
| Subtilisin-like | 0 | DIRECT |
| FKBP-like | 0 | DIRECT |
| Translation proteins | 0 | DIRECT |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
| STAT | 0 | DIRECT |
| Methylglyoxal synthase-like | 0 | DIRECT |
| Acyl-CoA dehydrogenase NM domain-like | 0 | DIRECT |
| Glycerol-3-phosphate (1)-acyltransferase | 0 | DIRECT |
| Acyl-CoA dehydrogenase C-terminal domain-like | 0 | DIRECT |
| ADC-like | 0 | DIRECT |
| CCCH zinc finger | 0 | DIRECT |
| beta and beta-prime subunits of DNA dependent RNA-polymerase | 0 | DIRECT |
| NTF2-like | 0 | DIRECT |
| Rhodanese/Cell cycle control phosphatase | 0 | DIRECT |
| tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
| Nucleotidylyl transferase | 0.01062 | INHERITED FROM: Hypoplasia of the corpus callosum || Global developmental delay |
| Voltage-gated potassium channels | 0.02424 | INHERITED FROM: Abnormal autonomic nervous system physiology || Abnormal nervous system electrophysiology || Obsessive-compulsive trait || Dysesthesia || EEG with generalized epileptiform discharges || Myoclonus || Febrile seizures || Periodic hypokalemic paresis || Respiratory paralysis || EEG with multifocal slow activity || Interictal EEG abnormality || Dyskinesia || Involuntary movements || Epileptic encephalopathy || Encephalopathy || Pain insensitivity || Periodic paralysis || EEG abnormality || Status epilepticus |
| Ribosomal protein S5 domain 2-like | 0.02546 | INHERITED FROM: Glioma || Malignant neoplasm of the central nervous system || Neuroblastoma || Memory impairment || Glioblastoma multiforme || Dysgraphia || Sensory neuropathy || Benign neoplasm of the central nervous system || Agnosia || Pituitary adenoma || Migraine || Abnormal CSF lactate level || Neuroblastic tumor || Neoplasm of the anterior pituitary || Abnormality of intracranial pressure |
| Bromodomain | 0.03888 | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior || Abnormal fear/anxiety-related behavior || Intellectual disability || Spina bifida occulta || Microcephaly || Sound sensitivity || Phonophobia || Hyperactivity |
| Actin-like ATPase domain | 0.03888 | INHERITED FROM: Transient ischemic attack || Subcortical cerebral atrophy |
| cAMP-binding domain-like | 0.05898 | INHERITED FROM: Photophobia |
| Ribonuclease H-like | 0.07233 | INHERITED FROM: Demyelinating peripheral neuropathy || Progressive microcephaly |
| Nucleotide-diphospho-sugar transferases | 0.07712 | INHERITED FROM: Macrogyria || Hypoplasia of the pons || Cerebellar cyst || Type II lissencephaly |
| ARM repeat | 0.09411 | INHERITED FROM: Abnormal cerebellum morphology || Abnormality of the glial cells || Abnormality of nervous system morphology || Abnormality of the cerebrum |
| (Trans)glycosidases | 0.1221 | INHERITED FROM: Cognitive impairment |
| Periplasmic binding protein-like II | 0.1333 | INHERITED FROM: Abnormality of central motor function || Hypoplasia of the corpus callosum || EEG with generalized epileptiform discharges || Upper motor neuron dysfunction || Epileptic encephalopathy || EEG abnormality |
| WD40 repeat-like | 0.1394 | INHERITED FROM: Abnormal cerebellum morphology || Aplasia/Hypoplasia involving the central nervous system || Abnormality of the cerebrum || Abnormality of the cerebral ventricles || Aplasia/Hypoplasia of the cerebellar vermis |
| HMG-box | 0.1622 | INHERITED FROM: Abnormality of the anterior pituitary || Global developmental delay || Abnormality of the sense of smell |
| Glycosyl hydrolase domain | 0.1625 | INHERITED FROM: Paresthesia || Abnormal autonomic nervous system physiology || Cognitive impairment |
| PreATP-grasp domain | 0.1625 | INHERITED FROM: Coma |
| BRCT domain | 0.1625 | INHERITED FROM: Dysmetria |
| Single hybrid motif | 0.1625 | INHERITED FROM: Lethargy || Psychomotor retardation |
| S-adenosyl-L-methionine-dependent methyltransferases | 0.2148 | INHERITED FROM: Impulsivity || Intellectual disability, moderate || Multifocal epileptiform discharges |
| C2 domain (Calcium/lipid-binding domain, CaLB) | 0.2155 | INHERITED FROM: Molar tooth sign on MRI |
| Chaperone J-domain | 0.2347 | INHERITED FROM: Parkinsonism |
| GST C-terminal domain-like | 0.2428 | INHERITED FROM: Inability to walk || Gait disturbance || Intellectual disability, profound |
| GLA-domain | 0.2428 | INHERITED FROM: Abnormality of the cerebral vasculature |
| MIR domain | 0.2428 | INHERITED FROM: Cerebellar hypoplasia || Abnormal synaptic transmission || Fatigable weakness || Aplasia/Hypoplasia of the cerebellar vermis |
| Thiamin diphosphate-binding fold (THDP-binding) | 0.2428 | INHERITED FROM: Lethargy |
| SET domain | 0.2459 | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior || Abnormal fear/anxiety-related behavior || Global developmental delay || Ventriculomegaly || Anxiety |
| Cystine-knot cytokines | 0.2465 | INHERITED FROM: Intracranial hemorrhage |
| UDP-Glycosyltransferase/glycogen phosphorylase | 0.2735 | INHERITED FROM: Abnormal cranial nerve morphology |
| Cysteine proteinases | 0.2742 | INHERITED FROM: Babinski sign || Abnormal superficial reflex || Widened subarachnoid space |
| Class II aaRS and biotin synthetases | 0.279 | INHERITED FROM: Hypoplasia of the corpus callosum || Abnormality of the cerebral white matter || Abnormal CNS myelination || Cerebellar atrophy || Hypertonia || Distal sensory impairment |
| RNI-like | 0.2804 | INHERITED FROM: Meningitis || Unusual CNS infection |
| ARID-like | 0.2966 | INHERITED FROM: Abnormal neural tube morphology || Spinal dysraphism || Hypoplasia of the corpus callosum || Spina bifida occulta || Spina bifida || Dandy-Walker malformation || Cerebellar cyst || Abnormality of the cerebellar vermis || Delayed speech and language development || Cerebellar vermis hypoplasia || Dilated fourth ventricle || Abnormality of the fourth ventricle || Central nervous system cyst || Aplasia/Hypoplasia of the cerebellar vermis || Partial agenesis of the corpus callosum |
| HSP20-like chaperones | 0.2966 | INHERITED FROM: Reduced tendon reflexes || Areflexia of lower limbs || Hyporeflexia of lower limbs || Difficulty walking || Hyporeflexia |
| POZ domain | 0.358 | INHERITED FROM: Difficulty walking |
| Kelch motif | 0.3617 | INHERITED FROM: Abnormality of the seventh cranial nerve |
| Periplasmic binding protein-like I | 0.3617 | INHERITED FROM: EEG with generalized epileptiform discharges || Upper motor neuron dysfunction || Epileptic encephalopathy |
| Ypt/Rab-GAP domain of gyp1p | 0.362 | INHERITED FROM: Cerebellar malformation || Abnormality of the cerebellar vermis || Cerebellar vermis hypoplasia || Aplasia/Hypoplasia of the cerebellar vermis |
| Transducin (alpha subunit), insertion domain | 0.3696 | INHERITED FROM: Paresthesia || Cerebral calcification |
| Sema domain | 0.4278 | INHERITED FROM: Abnormality of the sense of smell |
| Mitochondrial carrier | 0.434 | INHERITED FROM: Reduced consciousness/confusion || Lethargy || Encephalopathy |
| Anaphylotoxins (complement system) | 0.4424 | INHERITED FROM: Unusual CNS infection |
| DNA repair protein MutS, domain III | 0.4424 | INHERITED FROM: Glioma || Neoplasm of the central nervous system || Malignant neoplasm of the central nervous system || Abnormality of the glial cells || Astrocytoma || Abnormality of the astrocytes || Neoplasm of the nervous system |
| Rudiment single hybrid motif | 0.4424 | INHERITED FROM: Psychomotor retardation |
| Cap-Gly domain | 0.4424 | INHERITED FROM: Sleep disturbance || Depressivity |
| p53-like transcription factors | 0.475 | INHERITED FROM: Anterior hypopituitarism |
| Alpha-macroglobulin receptor domain | 0.4916 | INHERITED FROM: Unusual CNS infection |
| Thioredoxin-like | 0.493 | INHERITED FROM: Abnormality of the cerebrospinal fluid || Abnormal CSF lactate level |
| SMAD/FHA domain | 0.493 | INHERITED FROM: Abnormal peripheral myelination |
| RNA-binding domain, RBD | 0.523 | INHERITED FROM: Fatigable weakness of respiratory muscles || Motor neuron atrophy || Abnormal motor neuron morphology || Dyscalculia || Paralysis || Abnormal synaptic transmission || Neurodegeneration || Fatigable weakness of swallowing muscles || Fatigable weakness of bulbar muscles || Abnormal neuron morphology || Frontotemporal dementia || Abnormal lower motor neuron morphology || Agitation || Anxiety || Mutism || Perseveration || Restlessness |
| SH2 domain | 0.5526 | INHERITED FROM: Unusual CNS infection |
| NagB/RpiA/CoA transferase-like | 0.5616 | INHERITED FROM: Unsteady gait || Cessation of head growth || Delusions || Abnormality of the glial cells || Emotional lability || Memory impairment || Lethargy || Abnormal CNS myelination || Gliosis || CNS hypomyelination || Personality changes || Leukoencephalopathy |
| MHC antigen-recognition domain | 0.5713 | INHERITED FROM: Peripheral neuropathy || Cerebral ischemia || Meningitis || Unusual CNS infection || Hemiplegia/hemiparesis |
| Tubulin nucleotide-binding domain-like | 0.5772 | INHERITED FROM: Abnormality of brainstem morphology || Abnormality of the cerebral cortex || Abnormal cortical gyration || Aplasia/Hypoplasia of the brainstem || Abnormality of neuronal migration || Abnormality of lateral ventricle |
| Nuclear receptor ligand-binding domain | 0.6249 | INHERITED FROM: Abnormality of the pituitary gland || Hyperpituitarism |
| Tubulin C-terminal domain-like | 0.6291 | INHERITED FROM: Abnormality of brainstem morphology || Abnormality of the cerebral cortex || Abnormal cortical gyration || Aplasia/Hypoplasia of the brainstem || Abnormality of neuronal migration || Abnormality of lateral ventricle |
| Fibrinogen C-terminal domain-like | 0.6323 | INHERITED FROM: Abnormality of the cerebral vasculature |
| Myosin rod fragments | 0.6323 | INHERITED FROM: Cerebral ischemia |
| Terpenoid cyclases/Protein prenyltransferases | 0.6323 | INHERITED FROM: Unusual CNS infection |
| PDZ domain-like | 0.6568 | INHERITED FROM: Subcortical cerebral atrophy |
| Integrin domains | 0.6951 | INHERITED FROM: Subarachnoid hemorrhage || Intracranial hemorrhage || Abnormal subarachnoid space morphology || Cerebral palsy |
| ClpP/crotonase | 0.7345 | INHERITED FROM: Coma |
| HAD-like | 0.7646 | INHERITED FROM: Episodic ataxia || Tetraplegia |
| PH domain-like | 0.7863 | INHERITED FROM: Abnormal nerve conduction velocity || Abnormality of peripheral nerve conduction || Decreased nerve conduction velocity |
| vWA-like | 0.7866 | INHERITED FROM: Torticollis |
| (Phosphotyrosine protein) phosphatases II | 0.844 | INHERITED FROM: Hyposmia |
| TNF receptor-like | 0.85 | INHERITED FROM: Meningitis |
| Metal cation-transporting ATPase, ATP-binding domain N | 0.85 | INHERITED FROM: Truncal ataxia |
| Calcium ATPase, transmembrane domain M | 0.8624 | INHERITED FROM: Truncal ataxia |
| KRAB domain (Kruppel-associated box) | 0.8774 | INHERITED FROM: Generalized tonic-clonic seizures |
| TIMP-like | 0.8803 | INHERITED FROM: Unusual CNS infection |
| Snake toxin-like | 0.8869 | INHERITED FROM: Subarachnoid hemorrhage || Ischemic stroke || Abnormal subarachnoid space morphology || Transient ischemic attack |
| Calcium ATPase, transduction domain A | 0.8943 | INHERITED FROM: Truncal ataxia |
| DEATH domain | 0.9323 | INHERITED FROM: Headache || Unusual CNS infection |
| Intermediate filament protein, coiled coil region | 0.9498 | INHERITED FROM: Pseudobulbar paralysis || Abnormal synaptic transmission || Fatigable weakness || Pseudobulbar signs |
| Homeodomain-like | 0.9604 | INHERITED FROM: Pituitary dwarfism || Optic nerve hypoplasia || Ectopic anterior pituitary gland || Agenesis of corpus callosum || Holoprosencephaly || Septo-optic dysplasia || Posterior pituitary dysgenesis || Anterior pituitary dysgenesis || Abnormality of the pituitary gland |
| Cytochrome P450 | 0.9829 | INHERITED FROM: Adrenocorticotropic hormone excess |
| Second domain of FERM | 0.9896 | INHERITED FROM: Cerebral hemorrhage |
| Immunoglobulin | 0.998 | INHERITED FROM: Abnormal rapid eye movement sleep || Meningitis || Aqueductal stenosis |
| Supra-domain (Single) |
FDR (all) |
Annotation (direct or inherited) |
| Hook domain | 0 | Direct |
| Acyl-CoA N-acyltransferases (Nat) | 0 | Direct |
| FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | Direct |
| Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| EF-G C-terminal domain-like | 0 | Direct |
| LuxS/MPP-like metallohydrolase | 0 | Direct |
| BRK domain-like | 0 | Direct |
| Adenine nucleotide alpha hydrolases-like | 0 | Direct |
| DHS-like NAD/FAD-binding domain | 0 | Direct |
| CalX-like | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| Notch domain | 0 | Direct |
| Isocitrate/Isopropylmalate dehydrogenase-like | 0 | Direct |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | Direct |
| Tricorn protease domain 2 | 0 | Direct |
| Cytochrome b5-like heme/steroid binding domain | 0 | Direct |
| Pseudouridine synthase | 0 | Direct |
| S15/NS1 RNA-binding domain | 0 | Direct |
| Restriction endonuclease-like | 0 | Direct |
| RuvA domain 2-like | 0 | Direct |
| GroEL apical domain-like | 0 | Direct |
| Nicotinic receptor ligand binding domain-like | 0 | Direct |
| SAND domain-like | 0 | Direct |
| Apolipoprotein A-I | 0 | Direct |
| Proton glutamate symport protein | 0 | Direct |
| DNA/RNA polymerases | 0 | Direct |
| GAF domain-like | 0 | Direct |
| L-aspartase-like | 0 | Direct |
| Multidrug resistance efflux transporter EmrE | 0 | Direct |
| TB module/8-cys domain | 0 | Direct |
| GroES-like | 0 | Direct |
| CoA-dependent acyltransferases | 0 | Direct |
| ValRS/IleRS/LeuRS editing domain | 0 | Direct |
| beta-sandwich domain of Sec23/24 | 0 | Direct |
| Putative DNA-binding domain | 0 | Direct |
| Transcription factor STAT-4 N-domain | 0 | Direct |
| Helical domain of Sec23/24 | 0 | Direct |
| PP2C-like | 0 | Direct |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
| CRAL/TRIO domain | 0 | Direct |
| Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | Direct |
| SNF-like | 0 | Direct |
| JAB1/MPN domain | 0 | Direct |
| Calcium-dependent phosphotriesterase | 0 | Direct |
| Hect, E3 ligase catalytic domain | 0 | Direct |
| UBA-like | 0 | Direct |
| SNARE fusion complex | 0 | Direct |
| Thiolase-like | 0 | Direct |
| HIT-like | 0 | Direct |
| Cyclin-like | 0 | Direct |
| Arginase/deacetylase | 0 | Direct |
| Actin depolymerizing proteins | 0 | Direct |
| Lamin A/C globular tail domain | 0 | Direct |
| ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase | 0 | Direct |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| 4Fe-4S ferredoxins | 0 | Direct |
| Alkaline phosphatase-like | 0 | Direct |
| Neurotransmitter-gated ion-channel transmembrane pore | 0 | Direct |
| L27 domain | 0 | Direct |
| Aminoacid dehydrogenase-like, N-terminal domain | 0 | Direct |
| GroEL equatorial domain-like | 0 | Direct |
| GroEL-intermediate domain like | 0 | Direct |
| Ribonuclease PH domain 2-like | 0 | Direct |
| Subtilisin-like | 0 | Direct |
| FKBP-like | 0 | Direct |
| Translation proteins | 0 | Direct |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
| STAT | 0 | Direct |
| Methylglyoxal synthase-like | 0 | Direct |
| Acyl-CoA dehydrogenase NM domain-like | 0 | Direct |
| Glycerol-3-phosphate (1)-acyltransferase | 0 | Direct |
| Acyl-CoA dehydrogenase C-terminal domain-like | 0 | Direct |
| ADC-like | 0 | Direct |
| CCCH zinc finger | 0 | Direct |
| beta and beta-prime subunits of DNA dependent RNA-polymerase | 0 | Direct |
| NTF2-like | 0 | Direct |
| Rhodanese/Cell cycle control phosphatase | 0 | Direct |
| tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
| Nucleotidylyl transferase | 0.01062 | Inherited |
| Voltage-gated potassium channels | 0.02424 | Inherited |
| Ribosomal protein S5 domain 2-like | 0.02546 | Inherited |
| Bromodomain | 0.03888 | Inherited |
| Actin-like ATPase domain | 0.03888 | Inherited |
| cAMP-binding domain-like | 0.05898 | Inherited |
| Ribonuclease H-like | 0.07233 | Inherited |
| Nucleotide-diphospho-sugar transferases | 0.07712 | Inherited |
| ARM repeat | 0.09411 | Inherited |
| (Trans)glycosidases | 0.1221 | Inherited |
| Periplasmic binding protein-like II | 0.1333 | Inherited |
| WD40 repeat-like | 0.1394 | Inherited |
| HMG-box | 0.1622 | Inherited |
| Glycosyl hydrolase domain | 0.1625 | Inherited |
| PreATP-grasp domain | 0.1625 | Inherited |
| BRCT domain | 0.1625 | Inherited |
| Single hybrid motif | 0.1625 | Inherited |
| S-adenosyl-L-methionine-dependent methyltransferases | 0.2148 | Inherited |
| C2 domain (Calcium/lipid-binding domain, CaLB) | 0.2155 | Inherited |
| Chaperone J-domain | 0.2347 | Inherited |
| GST C-terminal domain-like | 0.2428 | Inherited |
| GLA-domain | 0.2428 | Inherited |
| MIR domain | 0.2428 | Inherited |
| Thiamin diphosphate-binding fold (THDP-binding) | 0.2428 | Inherited |
| SET domain | 0.2459 | Inherited |
| Cystine-knot cytokines | 0.2465 | Inherited |
| UDP-Glycosyltransferase/glycogen phosphorylase | 0.2735 | Inherited |
| Cysteine proteinases | 0.2742 | Inherited |
| Class II aaRS and biotin synthetases | 0.279 | Inherited |
| RNI-like | 0.2804 | Inherited |
| ARID-like | 0.2966 | Inherited |
| HSP20-like chaperones | 0.2966 | Inherited |
| POZ domain | 0.358 | Inherited |
| Kelch motif | 0.3617 | Inherited |
| Periplasmic binding protein-like I | 0.3617 | Inherited |
| Ypt/Rab-GAP domain of gyp1p | 0.362 | Inherited |
| Transducin (alpha subunit), insertion domain | 0.3696 | Inherited |
| Sema domain | 0.4278 | Inherited |
| Mitochondrial carrier | 0.434 | Inherited |
| Anaphylotoxins (complement system) | 0.4424 | Inherited |
| DNA repair protein MutS, domain III | 0.4424 | Inherited |
| Rudiment single hybrid motif | 0.4424 | Inherited |
| Cap-Gly domain | 0.4424 | Inherited |
| p53-like transcription factors | 0.475 | Inherited |
| Alpha-macroglobulin receptor domain | 0.4916 | Inherited |
| Thioredoxin-like | 0.493 | Inherited |
| SMAD/FHA domain | 0.493 | Inherited |
| RNA-binding domain, RBD | 0.523 | Inherited |
| SH2 domain | 0.5526 | Inherited |
| NagB/RpiA/CoA transferase-like | 0.5616 | Inherited |
| MHC antigen-recognition domain | 0.5713 | Inherited |
| Tubulin nucleotide-binding domain-like | 0.5772 | Inherited |
| Nuclear receptor ligand-binding domain | 0.6249 | Inherited |
| Tubulin C-terminal domain-like | 0.6291 | Inherited |
| Fibrinogen C-terminal domain-like | 0.6323 | Inherited |
| Myosin rod fragments | 0.6323 | Inherited |
| Terpenoid cyclases/Protein prenyltransferases | 0.6323 | Inherited |
| PDZ domain-like | 0.6568 | Inherited |
| Integrin domains | 0.6951 | Inherited |
| ClpP/crotonase | 0.7345 | Inherited |
| HAD-like | 0.7646 | Inherited |
| PH domain-like | 0.7863 | Inherited |
| vWA-like | 0.7866 | Inherited |
| (Phosphotyrosine protein) phosphatases II | 0.844 | Inherited |
| TNF receptor-like | 0.85 | Inherited |
| Metal cation-transporting ATPase, ATP-binding domain N | 0.85 | Inherited |
| Calcium ATPase, transmembrane domain M | 0.8624 | Inherited |
| KRAB domain (Kruppel-associated box) | 0.8774 | Inherited |
| TIMP-like | 0.8803 | Inherited |
| Snake toxin-like | 0.8869 | Inherited |
| Calcium ATPase, transduction domain A | 0.8943 | Inherited |
| DEATH domain | 0.9323 | Inherited |
| Intermediate filament protein, coiled coil region | 0.9498 | Inherited |
| Homeodomain-like | 0.9604 | Inherited |
| Cytochrome P450 | 0.9829 | Inherited |
| Second domain of FERM | 0.9896 | Inherited |
| Immunoglobulin | 0.998 | Inherited |
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0 | DIRECT |
51905,51905
51905 - FAD/NAD(P)-binding domain
51905 - FAD/NAD(P)-binding domain | 0 | DIRECT |
81296,48239
81296 - E set domains
48239 - Terpenoid cyclases/Protein prenyltransferases | 0 | DIRECT |
55781,109604
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | DIRECT |
53098,56672
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases | 0 | DIRECT |
81324,81296
81324 - Voltage-gated potassium channels
81296 - E set domains | 0 | DIRECT |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | DIRECT |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | DIRECT |
81811,82754
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0 | DIRECT |
50249,55681
50249 - Nucleic acid-binding proteins
55681 - Class II aaRS and biotin synthetases | 0 | DIRECT |
51206,51206
51206 - cAMP-binding domain-like
51206 - cAMP-binding domain-like | 0 | DIRECT |
49899,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0 | DIRECT |
53223,51735
53223 - Aminoacid dehydrogenase-like, N-terminal domain
51735 - NAD(P)-binding Rossmann-fold domains | 0 | DIRECT |
81383,52047
81383 - F-box domain
52047 - RNI-like | 0 | DIRECT |
52833,52833
52833 - Thioredoxin-like
52833 - Thioredoxin-like | 0 | DIRECT |
52980,47781
52980 - Restriction endonuclease-like
47781 - RuvA domain 2-like | 0 | DIRECT |
56645,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | DIRECT |
57424,50494
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | DIRECT |
48065,50729
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like | 0 | DIRECT |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0 | DIRECT |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | DIRECT |
47005,52777
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
52777 - CoA-dependent acyltransferases | 0 | DIRECT |
57903,47370
57903 - FYVE/PHD zinc finger
47370 - Bromodomain | 0 | DIRECT |
57903,57903
57903 - FYVE/PHD zinc finger
57903 - FYVE/PHD zinc finger | 0 | DIRECT |
57889,48350
57889 - Cysteine-rich domain
48350 - GTPase activation domain, GAP | 0 | DIRECT |
54897,52743
54897 - Protease propeptides/inhibitors
52743 - Subtilisin-like | 0 | DIRECT |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0 | DIRECT |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
50447,54980
50447 - Translation proteins
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
52540,46785
52540 - P-loop containing nucleoside triphosphate hydrolases
46785 - "Winged helix" DNA-binding domain | 0 | DIRECT |
54980,54211
54980 - EF-G C-terminal domain-like
54211 - Ribosomal protein S5 domain 2-like | 0 | DIRECT |
53901,53901
53901 - Thiolase-like
53901 - Thiolase-like | 0 | DIRECT |
47203,47203
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | DIRECT |
54849,52029
54849 - GroEL-intermediate domain like
52029 - GroEL apical domain-like | 0 | DIRECT |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | DIRECT |
54928,54928
54928 - RNA-binding domain, RBD
54928 - RNA-binding domain, RBD | 0 | DIRECT |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | DIRECT |
49562,49562
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
49562 - C2 domain (Calcium/lipid-binding domain, CaLB) | 0 | DIRECT |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0 | DIRECT |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | DIRECT |
81995,81811
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 0 | DIRECT |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | DIRECT |
141072,141072
141072 - CalX-like
141072 - CalX-like | 0 | DIRECT |
50447,50465
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
63380,52343
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | DIRECT |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
51230,47005
51230 - Single hybrid motif
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | DIRECT |
50249,50249
50249 - Nucleic acid-binding proteins
50249 - Nucleic acid-binding proteins | 0 | DIRECT |
53300,81995
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24 | 0 | DIRECT |
50129,51735
50129 - GroES-like
51735 - NAD(P)-binding Rossmann-fold domains | 0 | DIRECT |
54211,55666
54211 - Ribosomal protein S5 domain 2-like
55666 - Ribonuclease PH domain 2-like | 0 | DIRECT |
50447,-8
50447 - Translation proteins
-8 - ECOD | 0 | DIRECT |
52518,52518
52518 - Thiamin diphosphate-binding fold (THDP-binding)
52518 - Thiamin diphosphate-binding fold (THDP-binding) | 0 | DIRECT |
-7,56112
-7 - CATH
56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
57850,57845
57850 - RING/U-box
57845 - B-box zinc-binding domain | 0 | DIRECT |
49265,49899
49265 - Fibronectin type III
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
54768,54768
54768 - dsRNA-binding domain-like
54768 - dsRNA-binding domain-like | 0 | DIRECT |
-8,54980
-8 - ECOD
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0 | DIRECT |
103575,48726
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | DIRECT |
51905,55424
51905 - FAD/NAD(P)-binding domain
55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
63411,63411
63411 - LuxS/MPP-like metallohydrolase
63411 - LuxS/MPP-like metallohydrolase | 0 | DIRECT |
54928,90209
54928 - RNA-binding domain, RBD
90209 - Ran binding protein zinc finger-like | 0 | DIRECT |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0 | DIRECT |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0 | DIRECT |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | DIRECT |
47060,55681
47060 - S15/NS1 RNA-binding domain
55681 - Class II aaRS and biotin synthetases | 0 | DIRECT |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57196,49899
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
47473,103506
47473 - EF-hand
103506 - Mitochondrial carrier | 0 | DIRECT |
52374,47323
52374 - Nucleotidylyl transferase
47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | DIRECT |
54211,54980
54211 - Ribosomal protein S5 domain 2-like
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
50677,52374
50677 - ValRS/IleRS/LeuRS editing domain
52374 - Nucleotidylyl transferase | 0 | DIRECT |
52777,52777
52777 - CoA-dependent acyltransferases
52777 - CoA-dependent acyltransferases | 0 | DIRECT |
52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.05498 | INHERITED FROM: Neurodevelopmental abnormality |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.05898 | INHERITED FROM: Transient ischemic attack || Subcortical cerebral atrophy |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.1625 | INHERITED FROM: Paresthesia || Abnormal autonomic nervous system physiology || Cognitive impairment |
52440,56059
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like | 0.1985 | INHERITED FROM: Coma || Lethargy |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.2 | INHERITED FROM: Abnormal meningeal morphology || Encephalocele |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.3189 | INHERITED FROM: Bradykinesia || Apathy || Diminished movement || Abnormal autonomic nervous system physiology || Impulsivity || Shuffling gait || Rigidity || Abnormality of the glial cells || Schizophrenia || Akinesia || Disinhibition || Parkinsonism || Resting tremor || Postural instability || Lewy bodies || Parkinsonism with favorable response to dopaminergic medication || Orthostatic hypotension || Cerebral inclusion bodies || Abnormality of the sense of smell || Agitation || Orthostatic hypotension due to autonomic dysfunction || Hyposmia || Visual hallucinations || Low frustration tolerance |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.362 | INHERITED FROM: Incoordination || Facial palsy || Torticollis || Abnormal cranial nerve physiology || Focal dystonia || Craniofacial dystonia || Frequent falls || Cranial nerve paralysis || Abnormal cranial nerve morphology |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.362 | INHERITED FROM: Headache |
47923,47923
47923 - Ypt/Rab-GAP domain of gyp1p
47923 - Ypt/Rab-GAP domain of gyp1p | 0.362 | INHERITED FROM: Cerebellar malformation || Abnormality of the cerebellar vermis || Cerebellar vermis hypoplasia || Aplasia/Hypoplasia of the cerebellar vermis |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3696 | INHERITED FROM: Paresthesia || Cerebral calcification |
101912,103575
101912 - Sema domain
103575 - Plexin repeat | 0.4278 | INHERITED FROM: Abnormality of the sense of smell |
50156,50156
50156 - PDZ domain-like
50156 - PDZ domain-like | 0.4278 | INHERITED FROM: Schizophrenia || Subcortical cerebral atrophy || Hallucinations |
56059,51246
56059 - Glutathione synthetase ATP-binding domain-like
51246 - Rudiment single hybrid motif | 0.4424 | INHERITED FROM: Psychomotor retardation |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.4424 | INHERITED FROM: Abnormality of the cerebral vasculature |
48334,52540
48334 - DNA repair protein MutS, domain III
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4424 | INHERITED FROM: Glioma || Neoplasm of the central nervous system || Malignant neoplasm of the central nervous system || Abnormality of the glial cells || Astrocytoma || Abnormality of the astrocytes || Neoplasm of the nervous system |
49410,50242
49410 - Alpha-macroglobulin receptor domain
50242 - TIMP-like | 0.4424 | INHERITED FROM: Unusual CNS infection |
55681,52954
55681 - Class II aaRS and biotin synthetases
52954 - Class II aaRS ABD-related | 0.5616 | INHERITED FROM: Hypoplasia of the corpus callosum |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.5713 | INHERITED FROM: Peripheral neuropathy || Cerebral ischemia || Meningitis || Unusual CNS infection || Hemiplegia/hemiparesis |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6259 | INHERITED FROM: Anterior pituitary dysgenesis |
52490,55307
52490 - Tubulin nucleotide-binding domain-like
55307 - Tubulin C-terminal domain-like | 0.6291 | INHERITED FROM: Abnormality of brainstem morphology || Abnormality of the cerebral cortex || Abnormal cortical gyration || Aplasia/Hypoplasia of the brainstem || Abnormality of neuronal migration || Abnormality of lateral ventricle |
50044,52540
50044 - SH3-domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.639 | INHERITED FROM: Generalized tonic-clonic seizures || Absence seizure |
56784,81665
56784 - HAD-like
81665 - Calcium ATPase, transmembrane domain M | 0.7345 | INHERITED FROM: Truncal ataxia |
81660,56784
81660 - Metal cation-transporting ATPase, ATP-binding domain N
56784 - HAD-like | 0.85 | INHERITED FROM: Truncal ataxia |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.8652 | INHERITED FROM: Absent septum pellucidum |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.9631 | INHERITED FROM: Dysphasia || Cerebral hemorrhage |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0 | Direct |
51905,51905
51905 - FAD/NAD(P)-binding domain
51905 - FAD/NAD(P)-binding domain | 0 | Direct |
81296,48239
81296 - E set domains
48239 - Terpenoid cyclases/Protein prenyltransferases | 0 | Direct |
55781,109604
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | Direct |
53098,56672
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases | 0 | Direct |
81324,81296
81324 - Voltage-gated potassium channels
81296 - E set domains | 0 | Direct |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | Direct |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | Direct |
81811,82754
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0 | Direct |
50249,55681
50249 - Nucleic acid-binding proteins
55681 - Class II aaRS and biotin synthetases | 0 | Direct |
51206,51206
51206 - cAMP-binding domain-like
51206 - cAMP-binding domain-like | 0 | Direct |
49899,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0 | Direct |
53223,51735
53223 - Aminoacid dehydrogenase-like, N-terminal domain
51735 - NAD(P)-binding Rossmann-fold domains | 0 | Direct |
81383,52047
81383 - F-box domain
52047 - RNI-like | 0 | Direct |
52833,52833
52833 - Thioredoxin-like
52833 - Thioredoxin-like | 0 | Direct |
52980,47781
52980 - Restriction endonuclease-like
47781 - RuvA domain 2-like | 0 | Direct |
56645,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | Direct |
57424,50494
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | Direct |
48065,50729
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like | 0 | Direct |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0 | Direct |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | Direct |
47005,52777
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
52777 - CoA-dependent acyltransferases | 0 | Direct |
57903,47370
57903 - FYVE/PHD zinc finger
47370 - Bromodomain | 0 | Direct |
57903,57903
57903 - FYVE/PHD zinc finger
57903 - FYVE/PHD zinc finger | 0 | Direct |
57889,48350
57889 - Cysteine-rich domain
48350 - GTPase activation domain, GAP | 0 | Direct |
54897,52743
54897 - Protease propeptides/inhibitors
52743 - Subtilisin-like | 0 | Direct |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0 | Direct |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
50447,54980
50447 - Translation proteins
54980 - EF-G C-terminal domain-like | 0 | Direct |
52540,46785
52540 - P-loop containing nucleoside triphosphate hydrolases
46785 - "Winged helix" DNA-binding domain | 0 | Direct |
54980,54211
54980 - EF-G C-terminal domain-like
54211 - Ribosomal protein S5 domain 2-like | 0 | Direct |
53901,53901
53901 - Thiolase-like
53901 - Thiolase-like | 0 | Direct |
47203,47203
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | Direct |
54849,52029
54849 - GroEL-intermediate domain like
52029 - GroEL apical domain-like | 0 | Direct |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | Direct |
54928,54928
54928 - RNA-binding domain, RBD
54928 - RNA-binding domain, RBD | 0 | Direct |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | Direct |
49562,49562
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
49562 - C2 domain (Calcium/lipid-binding domain, CaLB) | 0 | Direct |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0 | Direct |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | Direct |
81995,81811
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 0 | Direct |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | Direct |
141072,141072
141072 - CalX-like
141072 - CalX-like | 0 | Direct |
50447,50465
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
63380,52343
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | Direct |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0 | Direct |
51230,47005
51230 - Single hybrid motif
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | Direct |
50249,50249
50249 - Nucleic acid-binding proteins
50249 - Nucleic acid-binding proteins | 0 | Direct |
53300,81995
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24 | 0 | Direct |
50129,51735
50129 - GroES-like
51735 - NAD(P)-binding Rossmann-fold domains | 0 | Direct |
54211,55666
54211 - Ribosomal protein S5 domain 2-like
55666 - Ribonuclease PH domain 2-like | 0 | Direct |
50447,-8
50447 - Translation proteins
-8 - ECOD | 0 | Direct |
52518,52518
52518 - Thiamin diphosphate-binding fold (THDP-binding)
52518 - Thiamin diphosphate-binding fold (THDP-binding) | 0 | Direct |
-7,56112
-7 - CATH
56112 - Protein kinase-like (PK-like) | 0 | Direct |
57850,57845
57850 - RING/U-box
57845 - B-box zinc-binding domain | 0 | Direct |
49265,49899
49265 - Fibronectin type III
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
54768,54768
54768 - dsRNA-binding domain-like
54768 - dsRNA-binding domain-like | 0 | Direct |
-8,54980
-8 - ECOD
54980 - EF-G C-terminal domain-like | 0 | Direct |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0 | Direct |
103575,48726
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | Direct |
51905,55424
51905 - FAD/NAD(P)-binding domain
55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | Direct |
63411,63411
63411 - LuxS/MPP-like metallohydrolase
63411 - LuxS/MPP-like metallohydrolase | 0 | Direct |
54928,90209
54928 - RNA-binding domain, RBD
90209 - Ran binding protein zinc finger-like | 0 | Direct |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0 | Direct |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0 | Direct |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | Direct |
47060,55681
47060 - S15/NS1 RNA-binding domain
55681 - Class II aaRS and biotin synthetases | 0 | Direct |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57196,49899
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
47473,103506
47473 - EF-hand
103506 - Mitochondrial carrier | 0 | Direct |
52374,47323
52374 - Nucleotidylyl transferase
47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0 | Direct |
54211,54980
54211 - Ribosomal protein S5 domain 2-like
54980 - EF-G C-terminal domain-like | 0 | Direct |
50677,52374
50677 - ValRS/IleRS/LeuRS editing domain
52374 - Nucleotidylyl transferase | 0 | Direct |
52777,52777
52777 - CoA-dependent acyltransferases
52777 - CoA-dependent acyltransferases | 0 | Direct |
52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.05498 | Inherited |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.05898 | Inherited |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.1625 | Inherited |
52440,56059
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like | 0.1985 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.2 | Inherited |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.3189 | Inherited |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.362 | Inherited |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.362 | Inherited |
47923,47923
47923 - Ypt/Rab-GAP domain of gyp1p
47923 - Ypt/Rab-GAP domain of gyp1p | 0.362 | Inherited |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3696 | Inherited |
101912,103575
101912 - Sema domain
103575 - Plexin repeat | 0.4278 | Inherited |
50156,50156
50156 - PDZ domain-like
50156 - PDZ domain-like | 0.4278 | Inherited |
56059,51246
56059 - Glutathione synthetase ATP-binding domain-like
51246 - Rudiment single hybrid motif | 0.4424 | Inherited |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.4424 | Inherited |
48334,52540
48334 - DNA repair protein MutS, domain III
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4424 | Inherited |
49410,50242
49410 - Alpha-macroglobulin receptor domain
50242 - TIMP-like | 0.4424 | Inherited |
55681,52954
55681 - Class II aaRS and biotin synthetases
52954 - Class II aaRS ABD-related | 0.5616 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.5713 | Inherited |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6259 | Inherited |
52490,55307
52490 - Tubulin nucleotide-binding domain-like
55307 - Tubulin C-terminal domain-like | 0.6291 | Inherited |
50044,52540
50044 - SH3-domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.639 | Inherited |
56784,81665
56784 - HAD-like
81665 - Calcium ATPase, transmembrane domain M | 0.7345 | Inherited |
81660,56784
81660 - Metal cation-transporting ATPase, ATP-binding domain N
56784 - HAD-like | 0.85 | Inherited |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.8652 | Inherited |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.9631 | Inherited |
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | DIRECT |
57184,57581,57196
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | DIRECT |
53300,81995,81811
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 0 | DIRECT |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
57196,49899,49899
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | DIRECT |
49899,57196,49899
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | DIRECT |
50447,-8,54980
50447 - Translation proteins
-8 - ECOD
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
52540,50447,50465
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | DIRECT |
54980,54211,54980
54980 - EF-G C-terminal domain-like
54211 - Ribosomal protein S5 domain 2-like
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
57184,57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
56645,47203,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | DIRECT |
57424,57424,50494
57424 - LDL receptor-like module
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | DIRECT |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
52833,52833,52833
52833 - Thioredoxin-like
52833 - Thioredoxin-like
52833 - Thioredoxin-like | 0 | DIRECT |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0 | DIRECT |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | DIRECT |
51230,47005,52777
51230 - Single hybrid motif
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
52777 - CoA-dependent acyltransferases | 0 | DIRECT |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0 | DIRECT |
49899,57196,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | DIRECT |
49899,49899,57196
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0 | DIRECT |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | DIRECT |
57184,57581,57184
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
49854,57424,57424
49854 - Spermadhesin, CUB domain
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | DIRECT |
52540,50447,54980
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
54980 - EF-G C-terminal domain-like | 0 | DIRECT |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | DIRECT |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | DIRECT |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | DIRECT |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
101912,103575,48726
101912 - Sema domain
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | DIRECT |
57184,49899,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
55781,55781,109604
55781 - GAF domain-like
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | DIRECT |
81995,81811,82754
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1093 | INHERITED FROM: Abnormal meningeal morphology || Abnormality of the spinal cord || Encephalocele || Hemiplegia/hemiparesis |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1985 | INHERITED FROM: Ventriculomegaly |
52440,56059,51246
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like
51246 - Rudiment single hybrid motif | 0.4424 | INHERITED FROM: Psychomotor retardation |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.4591 | INHERITED FROM: Toe walking |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.8356 | INHERITED FROM: Coma || Dysphasia || Cerebral hemorrhage || Hemiparesis |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.8435 | INHERITED FROM: Abnormality of the septum pellucidum || Absent septum pellucidum || Aqueductal stenosis |
81660,56784,81665
81660 - Metal cation-transporting ATPase, ATP-binding domain N
56784 - HAD-like
81665 - Calcium ATPase, transmembrane domain M | 0.85 | INHERITED FROM: Truncal ataxia |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | Direct |
57184,57581,57196
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | Direct |
53300,81995,81811
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 0 | Direct |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
57196,49899,49899
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | Direct |
49899,57196,49899
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | Direct |
50447,-8,54980
50447 - Translation proteins
-8 - ECOD
54980 - EF-G C-terminal domain-like | 0 | Direct |
52540,50447,50465
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | Direct |
54980,54211,54980
54980 - EF-G C-terminal domain-like
54211 - Ribosomal protein S5 domain 2-like
54980 - EF-G C-terminal domain-like | 0 | Direct |
57184,57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | Direct |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
56645,47203,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0 | Direct |
57424,57424,50494
57424 - LDL receptor-like module
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | Direct |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
52833,52833,52833
52833 - Thioredoxin-like
52833 - Thioredoxin-like
52833 - Thioredoxin-like | 0 | Direct |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0 | Direct |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | Direct |
51230,47005,52777
51230 - Single hybrid motif
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
52777 - CoA-dependent acyltransferases | 0 | Direct |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0 | Direct |
49899,57196,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | Direct |
49899,49899,57196
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0 | Direct |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | Direct |
57184,57581,57184
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
49854,57424,57424
49854 - Spermadhesin, CUB domain
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | Direct |
52540,50447,54980
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
54980 - EF-G C-terminal domain-like | 0 | Direct |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | Direct |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | Direct |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | Direct |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
101912,103575,48726
101912 - Sema domain
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | Direct |
57184,49899,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
55781,55781,109604
55781 - GAF domain-like
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | Direct |
81995,81811,82754
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1093 | Inherited |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1985 | Inherited |
52440,56059,51246
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like
51246 - Rudiment single hybrid motif | 0.4424 | Inherited |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.4591 | Inherited |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.8356 | Inherited |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.8435 | Inherited |
81660,56784,81665
81660 - Metal cation-transporting ATPase, ATP-binding domain N
56784 - HAD-like
81665 - Calcium ATPase, transmembrane domain M | 0.85 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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A presence/absence matrix is generated using protein domains and supradomains
for all genomes in SUPERFAMILY. The RAxML
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
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