|
Phenotypic Abnormality (PA): Abnormality of nervous system physiology
(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 (SDHP level: Least Informative)
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 |
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 |
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 |
Acyl-CoA dehydrogenase NM domain-like | 0 | DIRECT |
SAND domain-like | 0 | DIRECT |
NTF2-like | 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 |
Zn-finger domain of Sec23/24 | 0 | DIRECT |
Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
GroEL apical domain-like | 0 | DIRECT |
ValRS/IleRS/LeuRS editing domain | 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 |
CCCH zinc finger | 0 | DIRECT |
JAB1/MPN domain | 0 | DIRECT |
GroEL equatorial domain-like | 0 | DIRECT |
Nicotinic receptor ligand binding domain-like | 0 | DIRECT |
Actin depolymerizing proteins | 0 | DIRECT |
BRK domain-like | 0 | DIRECT |
Voltage-gated potassium channels | 0.004214 | INHERITED FROM: Involuntary movements || Respiratory paralysis || Dyskinesia || Obsessive-compulsive trait || EEG abnormality || Status epilepticus || EEG with multifocal slow activity || Myoclonus || Epileptic encephalopathy || Periodic hypokalemic paresis || Encephalopathy || Febrile seizures || Periodic paralysis || Interictal EEG abnormality || EEG with generalized epileptiform discharges |
Periplasmic binding protein-like II | 0.1012 | INHERITED FROM: Abnormality of central motor function || Upper motor neuron dysfunction || EEG with generalized epileptiform discharges |
Single hybrid motif | 0.1281 | INHERITED FROM: Lethargy || Psychomotor retardation |
PreATP-grasp domain | 0.1281 | INHERITED FROM: Coma |
S-adenosyl-L-methionine-dependent methyltransferases | 0.1391 | INHERITED FROM: Intellectual disability, moderate |
SET domain | 0.1644 | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior || Global developmental delay |
Chaperone J-domain | 0.1719 | INHERITED FROM: Parkinsonism |
Thiamin diphosphate-binding fold (THDP-binding) | 0.2033 | INHERITED FROM: Lethargy |
GST C-terminal domain-like | 0.2033 | INHERITED FROM: Intellectual disability, profound || Inability to walk || Gait disturbance |
MIR domain | 0.2033 | INHERITED FROM: Fatigable weakness || Abnormal synaptic transmission |
HSP20-like chaperones | 0.2553 | INHERITED FROM: Hyporeflexia of lower limbs || Areflexia of lower limbs || Hyporeflexia |
ARID-like | 0.2553 | INHERITED FROM: Delayed speech and language development |
Periplasmic binding protein-like I | 0.2667 | INHERITED FROM: Upper motor neuron dysfunction || Epileptic encephalopathy || EEG with generalized epileptiform discharges |
Mitochondrial carrier | 0.3146 | INHERITED FROM: Lethargy || Reduced consciousness/confusion || Encephalopathy |
Sema domain | 0.3541 | INHERITED FROM: Abnormality of the sense of smell |
Nucleotidylyl transferase | 0.3813 | INHERITED FROM: Global developmental delay |
(Trans)glycosidases | 0.4 | INHERITED FROM: Cognitive impairment |
Rudiment single hybrid motif | 0.4043 | INHERITED FROM: Psychomotor retardation |
Cap-Gly domain | 0.4043 | INHERITED FROM: Depressivity || Sleep disturbance |
Ribosomal protein S5 domain 2-like | 0.4601 | INHERITED FROM: Migraine || Dysgraphia || Agnosia || Abnormality of intracranial pressure |
NagB/RpiA/CoA transferase-like | 0.4939 | INHERITED FROM: Lethargy || Delusions || Memory impairment || Emotional lability || Unsteady gait || Personality changes |
Bromodomain | 0.5041 | INHERITED FROM: Phonophobia || Abnormal aggressive, impulsive or violent behavior || Hyperactivity || Abnormal fear/anxiety-related behavior || Sound sensitivity || Intellectual disability |
cAMP-binding domain-like | 0.5528 | INHERITED FROM: Photophobia |
RNA-binding domain, RBD | 0.5751 | INHERITED FROM: Fatigable weakness of swallowing muscles || Perseveration || Agitation || Mutism || Paralysis || Fatigable weakness of bulbar muscles || Dyscalculia || Fatigable weakness of respiratory muscles |
PH domain-like | 0.6096 | INHERITED FROM: Abnormal nerve conduction velocity || Decreased nerve conduction velocity || Abnormality of peripheral nerve conduction |
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase | 0.635 | INHERITED FROM: Migraine || Dysgraphia || Abnormal pyramidal sign || Irritability || Hemiplegia/hemiparesis || Agnosia || Hallucinations || Memory impairment || Abnormality of intracranial pressure |
ClpP/crotonase | 0.6379 | INHERITED FROM: Coma |
Cysteine proteinases | 0.6794 | INHERITED FROM: Abnormal superficial reflex || Babinski sign |
Glycosyl hydrolase domain | 0.6968 | INHERITED FROM: Cognitive impairment |
vWA-like | 0.7525 | INHERITED FROM: Torticollis |
Integrin domains | 0.8275 | INHERITED FROM: Cerebral palsy |
KRAB domain (Kruppel-associated box) | 0.8393 | INHERITED FROM: Generalized tonic-clonic seizures |
Intermediate filament protein, coiled coil region | 0.8577 | INHERITED FROM: Fatigable weakness || Pseudobulbar paralysis || Abnormal synaptic transmission |
DEATH domain | 0.9065 | INHERITED FROM: Headache |
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Family domains annotated to this HP term (SDHP level: Least Informative)
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 |
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 |
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 |
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 |
Glycosyl transferases group 1 | 0 | DIRECT |
Cytochrome b5 | 0 | DIRECT |
p120GAP domain-like | 0 | DIRECT |
SNARE fusion complex | 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 |
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 |
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 |
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 |
C5 cytosine-specific DNA methylase, DCM | 0 | DIRECT |
Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | DIRECT |
Exostosin | 0 | DIRECT |
Histone lysine methyltransferases | 0 | DIRECT |
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
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 |
Anticodon-binding domain | 0 | DIRECT |
PWWP domain | 0 | DIRECT |
JAB1/MPN domain | 0 | DIRECT |
IF2B-like | 0 | DIRECT |
Voltage-gated potassium channels | 0.01807 | INHERITED FROM: Epileptic encephalopathy || Interictal EEG abnormality || EEG with generalized epileptiform discharges |
Extended AAA-ATPase domain | 0.03696 | INHERITED FROM: Neurodevelopmental abnormality || Ataxia || Abnormality of higher mental function || Spasticity |
HMG-box | 0.07442 | INHERITED FROM: Abnormality of the sense of smell || Global developmental delay |
FHA domain | 0.07876 | INHERITED FROM: Areflexia |
Biotinyl/lipoyl-carrier proteins and domains | 0.1012 | INHERITED FROM: Lethargy || Psychomotor retardation |
Chaperone J-domain | 0.1385 | INHERITED FROM: Parkinsonism |
MIR domain | 0.1683 | INHERITED FROM: Fatigable weakness || Abnormal synaptic transmission |
Tetramerization domain of potassium channels | 0.1702 | INHERITED FROM: Myoclonus || Focal dystonia |
BC N-terminal domain-like | 0.2166 | INHERITED FROM: Lethargy || Psychomotor retardation || Coma |
Clathrin coat assembly domain | 0.2166 | INHERITED FROM: Poor speech |
ARID domain | 0.2166 | INHERITED FROM: Delayed speech and language development |
BC ATP-binding domain-like | 0.2166 | INHERITED FROM: Lethargy || Psychomotor retardation || Coma |
28-residue LRR | 0.2538 | INHERITED FROM: Photophobia |
Mitochondrial carrier | 0.2683 | INHERITED FROM: Lethargy || Reduced consciousness/confusion || Encephalopathy |
Pyrin domain, PYD | 0.2791 | INHERITED FROM: Headache || Photophobia |
Sema domain | 0.3083 | INHERITED FROM: Abnormality of the sense of smell |
L-arabinose binding protein-like | 0.3133 | INHERITED FROM: Upper motor neuron dysfunction || Epileptic encephalopathy || Absent speech || Hypsarrhythmia |
PHD domain | 0.3342 | INHERITED FROM: Delayed speech and language development |
ZZ domain | 0.3604 | INHERITED FROM: Hyperactivity || Autistic behavior || Short attention span |
BC C-terminal domain-like | 0.3604 | INHERITED FROM: Psychomotor retardation |
Cap-Gly domain | 0.3604 | INHERITED FROM: Depressivity || Sleep disturbance |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.3918 | INHERITED FROM: Global developmental delay |
MHC antigen-recognition domain | 0.43 | INHERITED FROM: Hemiplegia/hemiparesis |
VWC domain | 0.4483 | INHERITED FROM: Migraine |
Bromodomain | 0.4568 | INHERITED FROM: Phonophobia || Abnormal aggressive, impulsive or violent behavior || Hyperactivity || Abnormal fear/anxiety-related behavior || Sound sensitivity || Intellectual disability |
cAMP-binding domain | 0.5618 | INHERITED FROM: Photophobia |
Canonical RBD | 0.6385 | INHERITED FROM: Fatigable weakness of swallowing muscles || Perseveration || Anxiety || Agitation || Mutism || Paralysis || Fatigable weakness of bulbar muscles || Dyscalculia || Restlessness || Fatigable weakness of respiratory muscles || Abnormal synaptic transmission |
ABC transporter ATPase domain-like | 0.7107 | INHERITED FROM: Agnosia |
Myosin rod fragments | 0.7302 | INHERITED FROM: Abnormality of peripheral nervous system electrophysiology |
DNA gyrase/MutL, second domain | 0.7745 | INHERITED FROM: Migraine || Headache || Dyskinesia || Dysgraphia || Anxiety || Depressivity || Attention deficit hyperactivity disorder || Hyperactivity || Abnormal pyramidal sign || Dysarthria || Weakness due to upper motor neuron dysfunction || Abnormal fear/anxiety-related behavior || Abnormal emotion/affect behavior || Irritability || Cognitive impairment || Hemiplegia/hemiparesis || Agnosia || Hallucinations || Developmental regression || Memory impairment || Impairment in personality functioning || Short attention span || Abnormality of intracranial pressure |
DNA gyrase/MutL, N-terminal domain | 0.7745 | INHERITED FROM: Migraine || Headache || Dyskinesia || Dysgraphia || Anxiety || Depressivity || Attention deficit hyperactivity disorder || Hyperactivity || Abnormal pyramidal sign || Dysarthria || Weakness due to upper motor neuron dysfunction || Abnormal fear/anxiety-related behavior || Abnormal emotion/affect behavior || Irritability || Cognitive impairment || Hemiplegia/hemiparesis || Agnosia || Hallucinations || Developmental regression || Memory impairment || Impairment in personality functioning || Short attention span || Abnormality of intracranial pressure |
Integrin A (or I) domain | 0.7877 | INHERITED FROM: Frequent falls || Craniofacial dystonia || Torticollis || Focal dystonia |
Integrin domains | 0.7975 | INHERITED FROM: Cerebral palsy |
KRAB domain (Kruppel-associated box) | 0.8112 | INHERITED FROM: Generalized tonic-clonic seizures |
Intermediate filament protein, coiled coil region | 0.8242 | INHERITED FROM: Pseudobulbar signs || Fatigable weakness || Pseudobulbar paralysis || Abnormal synaptic transmission |
Nucleotide and nucleoside kinases | 0.9324 | INHERITED FROM: EEG with spike-wave complexes || Episodic ataxia || Febrile seizures |
Complement control module/SCR domain | 0.9967 | INHERITED FROM: Dysphasia |
SCOP term | FDR (all) | Annotation (direct or inherited) |
CCCH zinc finger | 0 | Direct |
Zn-finger domain of Sec23/24 | 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 |
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 |
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 |
Glycosyl transferases group 1 | 0 | Direct |
Cytochrome b5 | 0 | Direct |
p120GAP domain-like | 0 | Direct |
SNARE fusion complex | 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 |
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 |
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 |
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 |
C5 cytosine-specific DNA methylase, DCM | 0 | Direct |
Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | Direct |
Exostosin | 0 | Direct |
Histone lysine methyltransferases | 0 | Direct |
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
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 |
Anticodon-binding domain | 0 | Direct |
PWWP domain | 0 | Direct |
JAB1/MPN domain | 0 | Direct |
IF2B-like | 0 | Direct |
Voltage-gated potassium channels | 0.01807 | Inherited |
Extended AAA-ATPase domain | 0.03696 | Inherited |
HMG-box | 0.07442 | Inherited |
FHA domain | 0.07876 | Inherited |
Biotinyl/lipoyl-carrier proteins and domains | 0.1012 | Inherited |
Chaperone J-domain | 0.1385 | Inherited |
MIR domain | 0.1683 | Inherited |
Tetramerization domain of potassium channels | 0.1702 | Inherited |
BC N-terminal domain-like | 0.2166 | Inherited |
Clathrin coat assembly domain | 0.2166 | Inherited |
ARID domain | 0.2166 | Inherited |
BC ATP-binding domain-like | 0.2166 | Inherited |
28-residue LRR | 0.2538 | Inherited |
Mitochondrial carrier | 0.2683 | Inherited |
Pyrin domain, PYD | 0.2791 | Inherited |
Sema domain | 0.3083 | Inherited |
L-arabinose binding protein-like | 0.3133 | Inherited |
PHD domain | 0.3342 | Inherited |
ZZ domain | 0.3604 | Inherited |
BC C-terminal domain-like | 0.3604 | Inherited |
Cap-Gly domain | 0.3604 | Inherited |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.3918 | Inherited |
MHC antigen-recognition domain | 0.43 | Inherited |
VWC domain | 0.4483 | Inherited |
Bromodomain | 0.4568 | Inherited |
cAMP-binding domain | 0.5618 | Inherited |
Canonical RBD | 0.6385 | Inherited |
ABC transporter ATPase domain-like | 0.7107 | Inherited |
Myosin rod fragments | 0.7302 | Inherited |
DNA gyrase/MutL, second domain | 0.7745 | Inherited |
DNA gyrase/MutL, N-terminal domain | 0.7745 | Inherited |
Integrin A (or I) domain | 0.7877 | Inherited |
Integrin domains | 0.7975 | Inherited |
KRAB domain (Kruppel-associated box) | 0.8112 | Inherited |
Intermediate filament protein, coiled coil region | 0.8242 | Inherited |
Nucleotide and nucleoside kinases | 0.9324 | Inherited |
Complement control module/SCR domain | 0.9967 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
|
Plot tree as:
| |
Download Newick format tree:
|
(show help)
Trees by TreeVector
A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
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
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
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 |
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 |
Proton glutamate symport protein | 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 |
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 |
JAB1/MPN domain | 0 | DIRECT |
Calcium-dependent phosphotriesterase | 0 | DIRECT |
Hect, E3 ligase catalytic domain | 0 | DIRECT |
SNARE fusion complex | 0 | DIRECT |
Thiolase-like | 0 | DIRECT |
HIT-like | 0 | DIRECT |
Arginase/deacetylase | 0 | DIRECT |
Actin depolymerizing proteins | 0 | DIRECT |
Lamin A/C globular tail domain | 0 | DIRECT |
Zn-finger domain of Sec23/24 | 0 | DIRECT |
4Fe-4S ferredoxins | 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 |
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 |
NTF2-like | 0 | DIRECT |
Rhodanese/Cell cycle control phosphatase | 0 | DIRECT |
tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
Voltage-gated potassium channels | 0.002524 | INHERITED FROM: Dyskinesia || Epileptic encephalopathy || Involuntary movements || EEG with multifocal slow activity || Obsessive-compulsive trait || Respiratory paralysis || Interictal EEG abnormality || Abnormal nervous system electrophysiology || Periodic hypokalemic paresis || Febrile seizures || Myoclonus || Periodic paralysis || Status epilepticus || EEG abnormality || Encephalopathy || EEG with generalized epileptiform discharges |
HMG-box | 0.07634 | INHERITED FROM: Abnormality of the sense of smell || Global developmental delay |
Periplasmic binding protein-like II | 0.0796 | INHERITED FROM: Epileptic encephalopathy || Abnormality of central motor function || EEG abnormality || Upper motor neuron dysfunction || EEG with generalized epileptiform discharges |
PreATP-grasp domain | 0.1029 | INHERITED FROM: Coma |
BRCT domain | 0.1029 | INHERITED FROM: Dysmetria |
Single hybrid motif | 0.1029 | INHERITED FROM: Psychomotor retardation || Lethargy |
S-adenosyl-L-methionine-dependent methyltransferases | 0.1127 | INHERITED FROM: Impulsivity || Multifocal epileptiform discharges || Intellectual disability, moderate |
SET domain | 0.1348 | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior || Abnormal fear/anxiety-related behavior || Anxiety || Global developmental delay |
Chaperone J-domain | 0.1416 | INHERITED FROM: Parkinsonism |
Class II aaRS and biotin synthetases | 0.1471 | INHERITED FROM: Hypertonia |
GST C-terminal domain-like | 0.1703 | INHERITED FROM: Intellectual disability, profound || Gait disturbance || Inability to walk |
MIR domain | 0.1703 | INHERITED FROM: Fatigable weakness || Abnormal synaptic transmission |
Thiamin diphosphate-binding fold (THDP-binding) | 0.1703 | INHERITED FROM: Lethargy |
ARID-like | 0.2181 | INHERITED FROM: Delayed speech and language development |
HSP20-like chaperones | 0.2181 | INHERITED FROM: Reduced tendon reflexes || Hyporeflexia || Areflexia of lower limbs || Hyporeflexia of lower limbs || Difficulty walking |
Periplasmic binding protein-like I | 0.2287 | INHERITED FROM: Epileptic encephalopathy || Upper motor neuron dysfunction || EEG with generalized epileptiform discharges |
Mitochondrial carrier | 0.2739 | INHERITED FROM: Reduced consciousness/confusion || Lethargy || Encephalopathy |
Sema domain | 0.3121 | INHERITED FROM: Abnormality of the sense of smell |
Nucleotidylyl transferase | 0.3382 | INHERITED FROM: Global developmental delay |
(Trans)glycosidases | 0.3566 | INHERITED FROM: Cognitive impairment |
Rudiment single hybrid motif | 0.3609 | INHERITED FROM: Psychomotor retardation |
Cap-Gly domain | 0.3609 | INHERITED FROM: Sleep disturbance || Depressivity |
Ribosomal protein S5 domain 2-like | 0.4163 | INHERITED FROM: Migraine || Agnosia || Abnormality of intracranial pressure || Memory impairment || Dysgraphia |
MHC antigen-recognition domain | 0.4334 | INHERITED FROM: Hemiplegia/hemiparesis |
NagB/RpiA/CoA transferase-like | 0.4495 | INHERITED FROM: Delusions || Unsteady gait || Lethargy || Memory impairment || Emotional lability || Personality changes |
Bromodomain | 0.4598 | INHERITED FROM: Phonophobia || Intellectual disability || Sound sensitivity || Abnormal aggressive, impulsive or violent behavior || Abnormal fear/anxiety-related behavior || Hyperactivity |
cAMP-binding domain-like | 0.5091 | INHERITED FROM: Photophobia |
RNA-binding domain, RBD | 0.5323 | INHERITED FROM: Frontotemporal dementia || Agitation || Fatigable weakness of respiratory muscles || Fatigable weakness of bulbar muscles || Mutism || Perseveration || Restlessness || Fatigable weakness of swallowing muscles || Anxiety || Abnormal synaptic transmission || Paralysis || Dyscalculia |
HAD-like | 0.5661 | INHERITED FROM: Episodic ataxia || Tetraplegia |
PH domain-like | 0.5676 | INHERITED FROM: Abnormal nerve conduction velocity || Abnormality of peripheral nerve conduction || Decreased nerve conduction velocity |
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase | 0.5938 | INHERITED FROM: Migraine || Abnormal pyramidal sign || Attention deficit hyperactivity disorder || Agnosia || Irritability || Hemiplegia/hemiparesis || Hallucinations || Abnormality of intracranial pressure || Memory impairment || Dysgraphia || Gait disturbance |
ClpP/crotonase | 0.5968 | INHERITED FROM: Coma |
Cysteine proteinases | 0.6397 | INHERITED FROM: Abnormal superficial reflex || Babinski sign |
Glycosyl hydrolase domain | 0.6579 | INHERITED FROM: Cognitive impairment |
(Phosphotyrosine protein) phosphatases II | 0.6933 | INHERITED FROM: Hyposmia |
vWA-like | 0.7154 | INHERITED FROM: Torticollis |
POZ domain | 0.7312 | INHERITED FROM: Difficulty walking |
Metal cation-transporting ATPase, ATP-binding domain N | 0.7324 | INHERITED FROM: Truncal ataxia |
Calcium ATPase, transmembrane domain M | 0.7362 | INHERITED FROM: Truncal ataxia |
Calcium ATPase, transduction domain A | 0.7866 | INHERITED FROM: Truncal ataxia |
Integrin domains | 0.7938 | INHERITED FROM: Cerebral palsy |
KRAB domain (Kruppel-associated box) | 0.8062 | INHERITED FROM: Generalized tonic-clonic seizures |
Intermediate filament protein, coiled coil region | 0.8258 | INHERITED FROM: Pseudobulbar signs || Fatigable weakness || Pseudobulbar paralysis || Abnormal synaptic transmission |
DEATH domain | 0.8778 | INHERITED FROM: Headache |
Immunoglobulin | 0.9999 | INHERITED FROM: Abnormal rapid eye movement sleep |
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
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 |
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 |
50249,55681 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
52440,56059 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like | 0.1326 | INHERITED FROM: Coma || Lethargy |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.2116 | INHERITED FROM: Abnormality of the sense of smell || Agitation || Schizophrenia || Rigidity || Diminished movement || Parkinsonism with favorable response to dopaminergic medication || Impulsivity || Shuffling gait || Bradykinesia || Apathy || Low frustration tolerance || Postural instability || Visual hallucinations || Resting tremor || Parkinsonism || Hyposmia || Akinesia || Disinhibition |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.2805 | INHERITED FROM: Headache |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.3121 | INHERITED FROM: Abnormality of the sense of smell |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.3121 | INHERITED FROM: Schizophrenia || Hallucinations |
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.3609 | INHERITED FROM: Psychomotor retardation |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4113 | INHERITED FROM: Neurodevelopmental abnormality |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.4334 | INHERITED FROM: Hemiplegia/hemiparesis |
50044,52540 50044 - SH3-domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.5343 | INHERITED FROM: Absence seizure || Generalized tonic-clonic seizures |
56784,81665 56784 - HAD-like 81665 - Calcium ATPase, transmembrane domain M | 0.5968 | INHERITED FROM: Truncal ataxia |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.6579 | INHERITED FROM: Cognitive impairment |
81660,56784 81660 - Metal cation-transporting ATPase, ATP-binding domain N 56784 - HAD-like | 0.7324 | INHERITED FROM: Truncal ataxia |
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like | 0.7695 | INHERITED FROM: Dyskinesia || Migraine || Impairment in personality functioning || Abnormal pyramidal sign || Short attention span || Attention deficit hyperactivity disorder || Agnosia || Developmental regression || Irritability || Headache || Abnormal fear/anxiety-related behavior || Hyperactivity || Hemiplegia/hemiparesis || Hallucinations || Abnormality of intracranial pressure || Abnormal emotion/affect behavior || Cognitive impairment || Memory impairment || Depressivity || Dysgraphia || Anxiety || Dysarthria || Weakness due to upper motor neuron dysfunction |
51206,51206 51206 - cAMP-binding domain-like 51206 - cAMP-binding domain-like | 0.8115 | INHERITED FROM: Mental deterioration |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.8115 | INHERITED FROM: Torticollis || Focal dystonia || Facial palsy || Incoordination || Frequent falls || Cranial nerve paralysis || Abnormal cranial nerve physiology || Craniofacial dystonia |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9877 | INHERITED FROM: Dysphasia |
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 |
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 |
50249,55681 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
52440,56059 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like | 0.1326 | Inherited |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.2116 | Inherited |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.2805 | Inherited |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.3121 | Inherited |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.3121 | Inherited |
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.3609 | Inherited |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4113 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.4334 | Inherited |
50044,52540 50044 - SH3-domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.5343 | Inherited |
56784,81665 56784 - HAD-like 81665 - Calcium ATPase, transmembrane domain M | 0.5968 | Inherited |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.6579 | Inherited |
81660,56784 81660 - Metal cation-transporting ATPase, ATP-binding domain N 56784 - HAD-like | 0.7324 | Inherited |
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like | 0.7695 | Inherited |
51206,51206 51206 - cAMP-binding domain-like 51206 - cAMP-binding domain-like | 0.8115 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.8115 | Inherited |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9877 | Inherited |
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
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 |
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 |
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 |
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 |
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 | 0.06144 | INHERITED FROM: Hemiplegia/hemiparesis |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3184 | INHERITED FROM: Toe walking |
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.3609 | INHERITED FROM: Psychomotor retardation |
81660,56784,81665 81660 - Metal cation-transporting ATPase, ATP-binding domain N 56784 - HAD-like 81665 - Calcium ATPase, transmembrane domain M | 0.7324 | INHERITED FROM: Truncal ataxia |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9687 | INHERITED FROM: Coma || Dysphasia || Hemiparesis |
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 |
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 |
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 |
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 |
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 | 0.06144 | Inherited |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3184 | Inherited |
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.3609 | Inherited |
81660,56784,81665 81660 - Metal cation-transporting ATPase, ATP-binding domain N 56784 - HAD-like 81665 - Calcium ATPase, transmembrane domain M | 0.7324 | Inherited |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9687 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
|
Plot tree as:
| |
Download Newick format tree:
|
(show help)
Trees by TreeVector
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
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
|