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Phenotypic Abnormality (PA): Abnormality of nervous system morphology
(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)
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 |
Translational machinery components | 0 | DIRECT |
a tRNA synthase domain | 0 | DIRECT |
Myotubularin-like phosphatases | 0 | DIRECT |
Double-stranded RNA-binding domain (dsRBD) | 0 | DIRECT |
Ferredoxin domains from multidomain proteins | 0 | DIRECT |
Filamin repeat (rod domain) | 0 | DIRECT |
Protein serine/threonine phosphatase | 0 | DIRECT |
Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
DNA gyrase/MutL, second domain | 0 | DIRECT |
N-acetyl transferase, NAT | 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 |
Phosphate binding protein-like | 0 | DIRECT |
SWIRM domain | 0 | DIRECT |
beta-glycanases | 0 | DIRECT |
tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
Notch domain | 0 | DIRECT |
Smc hinge domain | 0 | DIRECT |
CAT-like | 0 | DIRECT |
XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
Branched-chain alpha-keto acid dehydrogenase PP module | 0 | DIRECT |
Histone deacetylase, HDAC | 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 |
Exostosin | 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 |
UBA domain | 0 | DIRECT |
Ferredoxin reductase FAD-binding domain-like | 0 | DIRECT |
Ribonuclease PH domain 2-like | 0 | DIRECT |
Fibrinogen coiled-coil and central regions | 0 | DIRECT |
Anticodon-binding domain | 0 | DIRECT |
DNA gyrase/MutL, N-terminal domain | 0 | DIRECT |
DNA polymerase I | 0 | DIRECT |
SPRY domain | 0 | DIRECT |
IF2B-like | 0 | DIRECT |
Extended AAA-ATPase domain | 0.002533 | INHERITED FROM: Abnormality of the corticospinal tract || Impaired vibration sensation in the lower limbs || Morphological abnormality of the central nervous system |
FHA domain | 0.0172 | INHERITED FROM: Malignant neoplasm of the central nervous system || Abnormal peripheral myelination |
Actin/HSP70 | 0.02623 | INHERITED FROM: Stroke || Transient ischemic attack || Cerebral ischemia |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.02776 | INHERITED FROM: Aplasia/Hypoplasia involving the central nervous system || Abnormality of forebrain morphology || Hypoplasia of the corpus callosum || Cerebral atrophy || Abnormality of the cerebrum |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.04164 | INHERITED FROM: Distal sensory impairment || Hypoplasia of the corpus callosum || Cerebellar atrophy || Abnormal CNS myelination || Abnormality of the cerebral white matter |
GLA-domain | 0.06104 | INHERITED FROM: Abnormality of the cerebral vasculature |
ARID domain | 0.09129 | INHERITED FROM: Cerebellar cyst || Spinal dysraphism || Aplasia/Hypoplasia of the cerebellar vermis || Partial agenesis of the corpus callosum || Abnormality of the cerebellar vermis || Microcephaly || Hypoplasia of the corpus callosum || Spina bifida occulta || Central nervous system cyst || Cerebellar vermis hypoplasia || Dandy-Walker malformation || Spina bifida || Dilated fourth ventricle || Abnormality of the fourth ventricle |
Kelch motif | 0.1298 | INHERITED FROM: Abnormality of the seventh cranial nerve |
Tubulin, GTPase domain | 0.1298 | INHERITED FROM: Abnormality of brainstem morphology || Abnormality of lateral ventricle || Abnormality of the cerebral cortex || Abnormal cortical gyration || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem |
Histone lysine methyltransferases | 0.14 | INHERITED FROM: Abnormality of forebrain morphology || Ventriculomegaly || Abnormality of the cerebrum |
Tubulin, C-terminal domain | 0.1684 | INHERITED FROM: Abnormality of brainstem morphology || Abnormality of lateral ventricle || Abnormality of the cerebral cortex || Abnormal cortical gyration || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem |
PHD domain | 0.1734 | INHERITED FROM: Microcephaly |
Transforming growth factor (TGF)-beta | 0.1806 | INHERITED FROM: Transient ischemic attack |
Ypt/Rab-GAP domain of gyp1p | 0.2023 | INHERITED FROM: Hypoplasia of the corpus callosum |
DNA repair protein MutS, domain III | 0.2023 | INHERITED FROM: Neoplasm of the central nervous system || Abnormality of the astrocytes || Astrocytoma || Abnormality of the glial cells || Glioma || Malignant neoplasm of the central nervous system || Neoplasm of the nervous system |
Netrin-like domain (NTR/C345C module) | 0.2023 | INHERITED FROM: Unusual CNS infection |
Anaphylotoxins (complement system) | 0.2023 | INHERITED FROM: Unusual CNS infection |
Glutathione S-transferase (GST), C-terminal domain | 0.2023 | INHERITED FROM: Abnormal myelination |
G proteins | 0.2056 | INHERITED FROM: Abnormality of the cerebrum || Abnormal corpus callosum morphology |
Fibrinogen C-terminal domain-like | 0.2228 | INHERITED FROM: Abnormality of the cerebral vasculature |
VWC domain | 0.223 | INHERITED FROM: Spina bifida || Abnormality of the spinal cord |
Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.2519 | INHERITED FROM: Abnormality of the cerebral cortex || Abnormal cortical gyration || Abnormality of neuronal migration |
T-box | 0.2585 | INHERITED FROM: Anencephaly |
Ras-binding domain, RBD | 0.3038 | INHERITED FROM: Neoplasm of the central nervous system || Spinal dysraphism || Neuroblastic tumor || Abnormal neural tube morphology || Malignant neoplasm of the central nervous system || Neoplasm of the nervous system || Neuroblastoma |
C1 set domains (antibody constant domain-like) | 0.3199 | INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection |
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain) | 0.3315 | INHERITED FROM: Spina bifida occulta |
MHC antigen-recognition domain | 0.3456 | INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection |
Alpha-macroglobulin receptor domain | 0.3751 | INHERITED FROM: Unusual CNS infection |
Complement components | 0.3751 | INHERITED FROM: Unusual CNS infection |
Tetramerization domain of potassium channels | 0.3844 | INHERITED FROM: Cerebellar atrophy |
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.442 | INHERITED FROM: Intracranial hemorrhage |
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.442 | INHERITED FROM: Intracranial hemorrhage |
Canonical RBD | 0.4591 | INHERITED FROM: Abnormal neuron morphology || Abnormal lower motor neuron morphology || Motor neuron atrophy || Abnormal motor neuron morphology |
Tyrosine-dependent oxidoreductases | 0.497 | INHERITED FROM: Hyperpituitarism |
Transducin (alpha subunit), insertion domain | 0.5055 | INHERITED FROM: Cerebral calcification || Paresthesia |
Integrin domains | 0.5218 | INHERITED FROM: Intracranial hemorrhage || Subarachnoid hemorrhage || Abnormal subarachnoid space morphology |
SH2 domain | 0.5639 | INHERITED FROM: Unusual CNS infection |
Crotonase-like | 0.59 | INHERITED FROM: Abnormality of the basal ganglia |
Bromodomain | 0.5959 | INHERITED FROM: Microcephaly || Spina bifida occulta |
Myosin rod fragments | 0.652 | INHERITED FROM: Cerebral ischemia |
MIR domain | 0.6537 | INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar hypoplasia |
Amylase, catalytic domain | 0.7359 | INHERITED FROM: Sensory neuropathy || Paresthesia |
Homeodomain | 0.765 | INHERITED FROM: Optic nerve hypoplasia || Agenesis of corpus callosum || Pituitary dwarfism || Posterior pituitary dysgenesis || Anterior pituitary dysgenesis || Holoprosencephaly || Septo-optic dysplasia || Encephalocele || Ectopic anterior pituitary gland |
PDZ domain | 0.8276 | INHERITED FROM: Subcortical cerebral atrophy |
ABC transporter ATPase domain-like | 0.8316 | INHERITED FROM: Abnormality of the astrocytes || Astrocytoma |
Second domain of FERM | 0.8491 | INHERITED FROM: Cerebral hemorrhage |
Nuclear receptor ligand-binding domain | 0.9663 | INHERITED FROM: Hyperpituitarism |
Neurotransmitter-gated ion-channel transmembrane pore | 0.9663 | INHERITED FROM: Decreased size of nerve terminals |
Nicotinic receptor ligand binding domain-like | 0.9663 | INHERITED FROM: Decreased size of nerve terminals |
Nuclear receptor | 0.9811 | INHERITED FROM: Hyperpituitarism |
Cytochrome P450 | 0.9836 | INHERITED FROM: Adrenocorticotropic hormone excess |
SCOP term | FDR (all) | Annotation (direct or inherited) |
CCCH zinc finger | 0 | Direct |
Translational machinery components | 0 | Direct |
a tRNA synthase domain | 0 | Direct |
Myotubularin-like phosphatases | 0 | Direct |
Double-stranded RNA-binding domain (dsRBD) | 0 | Direct |
Ferredoxin domains from multidomain proteins | 0 | Direct |
Filamin repeat (rod domain) | 0 | Direct |
Protein serine/threonine phosphatase | 0 | Direct |
Multidrug efflux transporter AcrB transmembrane domain | 0 | Direct |
DNA gyrase/MutL, second domain | 0 | Direct |
N-acetyl transferase, NAT | 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 |
Phosphate binding protein-like | 0 | Direct |
SWIRM domain | 0 | Direct |
beta-glycanases | 0 | Direct |
tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
Notch domain | 0 | Direct |
Smc hinge domain | 0 | Direct |
CAT-like | 0 | Direct |
XPF/Rad1/Mus81 nuclease | 0 | Direct |
Branched-chain alpha-keto acid dehydrogenase PP module | 0 | Direct |
Histone deacetylase, HDAC | 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 |
Exostosin | 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 |
UBA domain | 0 | Direct |
Ferredoxin reductase FAD-binding domain-like | 0 | Direct |
Ribonuclease PH domain 2-like | 0 | Direct |
Fibrinogen coiled-coil and central regions | 0 | Direct |
Anticodon-binding domain | 0 | Direct |
DNA gyrase/MutL, N-terminal domain | 0 | Direct |
DNA polymerase I | 0 | Direct |
SPRY domain | 0 | Direct |
IF2B-like | 0 | Direct |
Extended AAA-ATPase domain | 0.002533 | Inherited |
FHA domain | 0.0172 | Inherited |
Actin/HSP70 | 0.02623 | Inherited |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.02776 | Inherited |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.04164 | Inherited |
GLA-domain | 0.06104 | Inherited |
ARID domain | 0.09129 | Inherited |
Kelch motif | 0.1298 | Inherited |
Tubulin, GTPase domain | 0.1298 | Inherited |
Histone lysine methyltransferases | 0.14 | Inherited |
Tubulin, C-terminal domain | 0.1684 | Inherited |
PHD domain | 0.1734 | Inherited |
Transforming growth factor (TGF)-beta | 0.1806 | Inherited |
Ypt/Rab-GAP domain of gyp1p | 0.2023 | Inherited |
DNA repair protein MutS, domain III | 0.2023 | Inherited |
Netrin-like domain (NTR/C345C module) | 0.2023 | Inherited |
Anaphylotoxins (complement system) | 0.2023 | Inherited |
Glutathione S-transferase (GST), C-terminal domain | 0.2023 | Inherited |
G proteins | 0.2056 | Inherited |
Fibrinogen C-terminal domain-like | 0.2228 | Inherited |
VWC domain | 0.223 | Inherited |
Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.2519 | Inherited |
T-box | 0.2585 | Inherited |
Ras-binding domain, RBD | 0.3038 | Inherited |
C1 set domains (antibody constant domain-like) | 0.3199 | Inherited |
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain) | 0.3315 | Inherited |
MHC antigen-recognition domain | 0.3456 | Inherited |
Alpha-macroglobulin receptor domain | 0.3751 | Inherited |
Complement components | 0.3751 | Inherited |
Tetramerization domain of potassium channels | 0.3844 | Inherited |
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.442 | Inherited |
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.442 | Inherited |
Canonical RBD | 0.4591 | Inherited |
Tyrosine-dependent oxidoreductases | 0.497 | Inherited |
Transducin (alpha subunit), insertion domain | 0.5055 | Inherited |
Integrin domains | 0.5218 | Inherited |
SH2 domain | 0.5639 | Inherited |
Crotonase-like | 0.59 | Inherited |
Bromodomain | 0.5959 | Inherited |
Myosin rod fragments | 0.652 | Inherited |
MIR domain | 0.6537 | Inherited |
Amylase, catalytic domain | 0.7359 | Inherited |
Homeodomain | 0.765 | Inherited |
PDZ domain | 0.8276 | Inherited |
ABC transporter ATPase domain-like | 0.8316 | Inherited |
Second domain of FERM | 0.8491 | Inherited |
Nuclear receptor ligand-binding domain | 0.9663 | Inherited |
Neurotransmitter-gated ion-channel transmembrane pore | 0.9663 | Inherited |
Nicotinic receptor ligand binding domain-like | 0.9663 | Inherited |
Nuclear receptor | 0.9811 | Inherited |
Cytochrome P450 | 0.9836 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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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)
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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) |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 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 |
81383,52047 81383 - F-box domain 52047 - RNI-like | 0 | DIRECT |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | DIRECT |
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | DIRECT |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0 | DIRECT |
54897,52743 54897 - Protease propeptides/inhibitors 52743 - Subtilisin-like | 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 |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 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 |
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 |
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 |
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 |
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 |
47473,103506 47473 - EF-hand 103506 - Mitochondrial carrier | 0 | DIRECT |
54211,54980 54211 - Ribosomal protein S5 domain 2-like 54980 - EF-G C-terminal domain-like | 0 | DIRECT |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.02753 | INHERITED FROM: Paresthesia |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.06171 | INHERITED FROM: Abnormality of the glial cells || Cerebral inclusion bodies || Lewy bodies |
53067,53067 53067 - Actin-like ATPase domain 53067 - Actin-like ATPase domain | 0.08083 | INHERITED FROM: Subcortical cerebral atrophy || Transient ischemic attack |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.139 | INHERITED FROM: Abnormal cranial nerve morphology || Facial palsy |
47923,47923 47923 - Ypt/Rab-GAP domain of gyp1p 47923 - Ypt/Rab-GAP domain of gyp1p | 0.139 | INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar malformation || Cerebellar vermis hypoplasia || Abnormality of the cerebellar vermis |
52490,55307 52490 - Tubulin nucleotide-binding domain-like 55307 - Tubulin C-terminal domain-like | 0.1757 | INHERITED FROM: Abnormality of lateral ventricle || Abnormality of neuronal migration || Aplasia/Hypoplasia of the brainstem || Abnormal cortical gyration || Abnormality of the cerebral cortex || Abnormality of brainstem morphology |
57630,57196 57630 - GLA-domain 57196 - EGF/Laminin | 0.2054 | INHERITED FROM: Abnormality of the cerebral vasculature |
48334,52540 48334 - DNA repair protein MutS, domain III 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.2054 | INHERITED FROM: Neoplasm of the nervous system || Astrocytoma || Abnormality of the glial cells || Abnormality of the astrocytes || Malignant neoplasm of the central nervous system || Neoplasm of the central nervous system || Glioma |
49410,50242 49410 - Alpha-macroglobulin receptor domain 50242 - TIMP-like | 0.2054 | INHERITED FROM: Unusual CNS infection |
55681,52954 55681 - Class II aaRS and biotin synthetases 52954 - Class II aaRS ABD-related | 0.2282 | INHERITED FROM: Hypoplasia of the corpus callosum |
52374,47323 52374 - Nucleotidylyl transferase 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.257 | INHERITED FROM: Cerebellar hypoplasia |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.2977 | INHERITED FROM: Subcortical cerebral atrophy |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.3542 | INHERITED FROM: Unusual CNS infection || Cerebral ischemia || Peripheral neuropathy || Meningitis |
47895,52540 47895 - Transducin (alpha subunit), insertion domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.512 | INHERITED FROM: Cerebral calcification || Paresthesia |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.5391 | INHERITED FROM: Abnormal meningeal morphology || Encephalocele |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6192 | INHERITED FROM: Anterior pituitary dysgenesis |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.716 | INHERITED FROM: Abnormal motor neuron morphology || Motor neuron atrophy || Abnormal neuron morphology |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.8831 | INHERITED FROM: Absent septum pellucidum |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.9576 | INHERITED FROM: Decreased size of nerve terminals |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9771 | INHERITED FROM: Cerebral hemorrhage |
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 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 |
81383,52047 81383 - F-box domain 52047 - RNI-like | 0 | Direct |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | Direct |
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | Direct |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0 | Direct |
54897,52743 54897 - Protease propeptides/inhibitors 52743 - Subtilisin-like | 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 |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 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 |
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 |
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 |
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 |
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 |
47473,103506 47473 - EF-hand 103506 - Mitochondrial carrier | 0 | Direct |
54211,54980 54211 - Ribosomal protein S5 domain 2-like 54980 - EF-G C-terminal domain-like | 0 | Direct |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.02753 | Inherited |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.06171 | Inherited |
53067,53067 53067 - Actin-like ATPase domain 53067 - Actin-like ATPase domain | 0.08083 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.139 | Inherited |
47923,47923 47923 - Ypt/Rab-GAP domain of gyp1p 47923 - Ypt/Rab-GAP domain of gyp1p | 0.139 | Inherited |
52490,55307 52490 - Tubulin nucleotide-binding domain-like 55307 - Tubulin C-terminal domain-like | 0.1757 | Inherited |
57630,57196 57630 - GLA-domain 57196 - EGF/Laminin | 0.2054 | Inherited |
48334,52540 48334 - DNA repair protein MutS, domain III 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.2054 | Inherited |
49410,50242 49410 - Alpha-macroglobulin receptor domain 50242 - TIMP-like | 0.2054 | Inherited |
55681,52954 55681 - Class II aaRS and biotin synthetases 52954 - Class II aaRS ABD-related | 0.2282 | Inherited |
52374,47323 52374 - Nucleotidylyl transferase 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.257 | Inherited |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.2977 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.3542 | Inherited |
47895,52540 47895 - Transducin (alpha subunit), insertion domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.512 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.5391 | Inherited |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6192 | Inherited |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.716 | Inherited |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.8831 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.9576 | Inherited |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9771 | 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) |
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 |
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 |
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 |
52540,50447,54980 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 54980 - EF-G C-terminal domain-like | 0 | DIRECT |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04165 | INHERITED FROM: Ventriculomegaly |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.3915 | INHERITED FROM: Abnormality of the spinal cord || Abnormal meningeal morphology || Encephalocele |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.4574 | INHERITED FROM: Abnormality of the cerebrospinal fluid || Hydrocephalus |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.4574 | INHERITED FROM: Cerebellar malformation || Abnormality of the spinal cord || Arnold-Chiari malformation |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.7246 | INHERITED FROM: Aqueductal stenosis || Absent septum pellucidum || Abnormality of the septum pellucidum |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.8375 | INHERITED FROM: Cerebral hemorrhage |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
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 |
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 |
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 |
52540,50447,54980 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 54980 - EF-G C-terminal domain-like | 0 | Direct |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04165 | Inherited |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.3915 | Inherited |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.4574 | Inherited |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.4574 | Inherited |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.7246 | Inherited |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.8375 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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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.
|