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Phenotypic Abnormality (PA): Abnormality of the vasculature
(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 (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| Proteasome subunits | 0 | DIRECT |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| beta-glycanases | 0 | DIRECT |
| ets domain | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| GAF domain | 0 | DIRECT |
| Phoshoinositide 3-kinase (PI3K) helical domain | 0 | DIRECT |
| Putative glucosidase YicI, domain 3 | 0 | DIRECT |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| Globins | 0.0105 | INHERITED FROM: Splenomegaly || Abnormal spleen morphology || Abnormality of the spleen || Abnormality of the lymphatic system |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.01753 | INHERITED FROM: Telangiectasia |
| Tetratricopeptide repeat (TPR) | 0.02351 | INHERITED FROM: Asplenia || Hypoplasia of the thymus || Aplasia/Hypoplasia of the thymus || Aplasia/Hypoplasia of the spleen |
| SMAD MH1 domain | 0.02356 | INHERITED FROM: Aortic aneurysm || Dilatation || Abnormal aortic morphology || Aortic dissection |
| SMAD domain | 0.02356 | INHERITED FROM: Aortic aneurysm || Dilatation || Abnormal aortic morphology || Aortic dissection |
| Pyrin domain, PYD | 0.02356 | INHERITED FROM: Splenomegaly || Abnormal spleen morphology || Conjunctivitis || Lymphadenopathy || Abnormality of the spleen || Red eye || Abnormality of the lymphatic system |
| C1 set domains (antibody constant domain-like) | 0.02563 | INHERITED FROM: Vasculitis || Keratoconjunctivitis sicca |
| MHC antigen-recognition domain | 0.04382 | INHERITED FROM: Vasculitis |
| Double-stranded RNA-binding domain (dsRBD) | 0.05146 | INHERITED FROM: Abnormal systemic arterial morphology |
| Transcription factor STAT-4 N-domain | 0.06858 | INHERITED FROM: Lymphadenopathy |
| Ras-binding domain, RBD | 0.06858 | INHERITED FROM: Abnormality of the spleen |
| STAT DNA-binding domain | 0.06858 | INHERITED FROM: Lymphadenopathy |
| DnaQ-like 3'-5' exonuclease | 0.06858 | INHERITED FROM: Telangiectasia |
| Extracellular domain of cell surface receptors | 0.06858 | INHERITED FROM: Abnormal morphology of the great vessels |
| STAT | 0.06858 | INHERITED FROM: Lymphadenopathy |
| Fibrinogen C-terminal domain-like | 0.07585 | INHERITED FROM: Abnormality of the cerebral vasculature || Splenic rupture |
| DEATH domain, DD | 0.08963 | INHERITED FROM: Vasculitis || Splenomegaly || Subcutaneous hemorrhage || Lymphadenopathy |
| Growth factor receptor domain | 0.1111 | INHERITED FROM: Abnormal vascular morphology |
| Caspase recruitment domain, CARD | 0.128 | INHERITED FROM: Abnormality of the lymph nodes || Lymphadenopathy |
| VWC domain | 0.1298 | INHERITED FROM: Bruising susceptibility || Aortic aneurysm || Thoracic aortic aneurysm || Ascending tubular aorta aneurysm || Arterial dissection || Venous insufficiency || Abnormal venous morphology |
| GLA-domain | 0.1527 | INHERITED FROM: Abnormality of the cerebral vasculature || Abnormal vascular physiology || Abnormality of pulmonary circulation |
| RecA protein-like (ATPase-domain) | 0.1527 | INHERITED FROM: Abnormal carotid artery morphology || Arteriovenous malformation |
| Transforming growth factor (TGF)-beta | 0.1863 | INHERITED FROM: Transient ischemic attack |
| 28-residue LRR | 0.1998 | INHERITED FROM: Splenomegaly || Conjunctivitis || Lymphadenopathy || Red eye |
| PX domain | 0.1998 | INHERITED FROM: Splenomegaly |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.2602 | INHERITED FROM: Bruising susceptibility |
| TNF receptor-like | 0.2825 | INHERITED FROM: Splenomegaly || Abnormal spleen morphology || Abnormality of the lymphatic system |
| TNF-like | 0.2825 | INHERITED FROM: Abnormality of the lymph nodes |
| ARID domain | 0.3409 | INHERITED FROM: Cutis marmorata |
| Protein kinases, catalytic subunit | 0.3813 | INHERITED FROM: Hemangioma |
| Myosin rod fragments | 0.4216 | INHERITED FROM: Cerebral ischemia |
| Erythroid transcription factor GATA-1 | 0.4216 | INHERITED FROM: Tetralogy of Fallot || Coarctation of aorta || Double outlet right ventricle || Conotruncal defect |
| HMG-box | 0.4914 | INHERITED FROM: Cutis marmorata |
| Integrin domains | 0.5069 | INHERITED FROM: Intracranial hemorrhage || Subarachnoid hemorrhage || Spontaneous hematomas || Macular purpura || Purpura || Ecchymosis || Petechiae |
| TB module/8-cys domain | 0.6065 | INHERITED FROM: Dilatation |
| Second domain of FERM | 0.6153 | INHERITED FROM: Cerebral hemorrhage |
| Intermediate filament protein, coiled coil region | 0.6879 | INHERITED FROM: Erythema |
| ABC transporter ATPase domain-like | 0.6979 | INHERITED FROM: Premature coronary artery atherosclerosis || Atherosclerosis || Abnormal coronary artery morphology |
| Tropomyosin | 0.7043 | INHERITED FROM: Aortic aneurysm |
| Actin/HSP70 | 0.8399 | INHERITED FROM: Stroke || Transient ischemic attack || Cerebral ischemia |
| Ngr ectodomain-like | 0.914 | INHERITED FROM: Spontaneous hematomas |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.964 | INHERITED FROM: Intracranial hemorrhage |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.964 | INHERITED FROM: Intracranial hemorrhage |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| Proteasome subunits | 0 | Direct |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
| Apolipoprotein A-I | 0 | Direct |
| beta-glycanases | 0 | Direct |
| ets domain | 0 | Direct |
| Notch domain | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| GAF domain | 0 | Direct |
| Phoshoinositide 3-kinase (PI3K) helical domain | 0 | Direct |
| Putative glucosidase YicI, domain 3 | 0 | Direct |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| Globins | 0.0105 | Inherited |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.01753 | Inherited |
| Tetratricopeptide repeat (TPR) | 0.02351 | Inherited |
| SMAD MH1 domain | 0.02356 | Inherited |
| SMAD domain | 0.02356 | Inherited |
| Pyrin domain, PYD | 0.02356 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.02563 | Inherited |
| MHC antigen-recognition domain | 0.04382 | Inherited |
| Double-stranded RNA-binding domain (dsRBD) | 0.05146 | Inherited |
| Transcription factor STAT-4 N-domain | 0.06858 | Inherited |
| Ras-binding domain, RBD | 0.06858 | Inherited |
| STAT DNA-binding domain | 0.06858 | Inherited |
| DnaQ-like 3'-5' exonuclease | 0.06858 | Inherited |
| Extracellular domain of cell surface receptors | 0.06858 | Inherited |
| STAT | 0.06858 | Inherited |
| Fibrinogen C-terminal domain-like | 0.07585 | Inherited |
| DEATH domain, DD | 0.08963 | Inherited |
| Growth factor receptor domain | 0.1111 | Inherited |
| Caspase recruitment domain, CARD | 0.128 | Inherited |
| VWC domain | 0.1298 | Inherited |
| GLA-domain | 0.1527 | Inherited |
| RecA protein-like (ATPase-domain) | 0.1527 | Inherited |
| Transforming growth factor (TGF)-beta | 0.1863 | Inherited |
| 28-residue LRR | 0.1998 | Inherited |
| PX domain | 0.1998 | Inherited |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.2602 | Inherited |
| TNF receptor-like | 0.2825 | Inherited |
| TNF-like | 0.2825 | Inherited |
| ARID domain | 0.3409 | Inherited |
| Protein kinases, catalytic subunit | 0.3813 | Inherited |
| Myosin rod fragments | 0.4216 | Inherited |
| Erythroid transcription factor GATA-1 | 0.4216 | Inherited |
| HMG-box | 0.4914 | Inherited |
| Integrin domains | 0.5069 | Inherited |
| TB module/8-cys domain | 0.6065 | Inherited |
| Second domain of FERM | 0.6153 | Inherited |
| Intermediate filament protein, coiled coil region | 0.6879 | Inherited |
| ABC transporter ATPase domain-like | 0.6979 | Inherited |
| Tropomyosin | 0.7043 | Inherited |
| Actin/HSP70 | 0.8399 | Inherited |
| Ngr ectodomain-like | 0.914 | Inherited |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.964 | Inherited |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.964 | 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)
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
49562,48371
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat | 0 | DIRECT |
55781,109604
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | DIRECT |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | DIRECT |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | DIRECT |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | DIRECT |
55550,55550
55550 - SH2 domain
55550 - SH2 domain | 0 | DIRECT |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | DIRECT |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.0006594 | DIRECT |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02202 | INHERITED FROM: Splenomegaly || Vascular skin abnormality || Abnormal spleen morphology || Conjunctivitis || Lymphadenopathy || Abnormality of the lymph nodes || Abnormality of the spleen || Red eye || Abnormality of the lymphatic system |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.02775 | INHERITED FROM: Vascular skin abnormality || Cerebral hemorrhage |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.03984 | INHERITED FROM: Cerebral ischemia || Vasculitis |
48371,56112
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.04835 | INHERITED FROM: Splenomegaly |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.04904 | INHERITED FROM: Abnormality of the pulmonary vasculature || Thoracic aortic aneurysm || Abnormal morphology of the great vessels || Tetralogy of Fallot |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.06379 | INHERITED FROM: Lymphadenopathy |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.06379 | INHERITED FROM: Lymphadenopathy |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.06379 | INHERITED FROM: Lymphadenopathy |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.08542 | INHERITED FROM: Splenomegaly || Abnormal spleen morphology || Conjunctivitis || Red eye || Abnormality of the lymphatic system || Vasculitis |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.222 | INHERITED FROM: Abnormality of the pulmonary vasculature || Abnormal morphology of the great vessels || Tetralogy of Fallot || Abnormality of the pulmonary artery |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.2742 | INHERITED FROM: Thoracic aortic aneurysm |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.3329 | INHERITED FROM: Abnormality of the cerebral vasculature |
47986,47986
47986 - DEATH domain
47986 - DEATH domain | 0.3329 | INHERITED FROM: Lymphadenopathy || Abnormality of the lymph nodes |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0.3329 | INHERITED FROM: Dilatation |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.5951 | INHERITED FROM: Dilatation |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.5951 | INHERITED FROM: Dilatation |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.8058 | INHERITED FROM: Transient ischemic attack |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
49562,48371
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat | 0 | Direct |
55781,109604
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | Direct |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | Direct |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | Direct |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | Direct |
55550,55550
55550 - SH2 domain
55550 - SH2 domain | 0 | Direct |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | Direct |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.0006594 | Direct |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02202 | Inherited |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.02775 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.03984 | Inherited |
48371,56112
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.04835 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.04904 | Inherited |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.06379 | Inherited |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.06379 | Inherited |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.06379 | Inherited |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.08542 | Inherited |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.222 | Inherited |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.2742 | Inherited |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.3329 | Inherited |
47986,47986
47986 - DEATH domain
47986 - DEATH domain | 0.3329 | Inherited |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0.3329 | Inherited |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.5951 | Inherited |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.5951 | Inherited |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.8058 | Inherited |
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | DIRECT |
49562,48371,56112
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat
56112 - Protein kinase-like (PK-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 |
55781,55781,109604
55781 - GAF domain-like
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | DIRECT |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.004062 | INHERITED FROM: Thoracic aortic aneurysm || Congenital malformation of the great arteries || Aortic aneurysm |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.04835 | INHERITED FROM: Splenomegaly |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.06379 | INHERITED FROM: Lymphadenopathy |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.06379 | INHERITED FROM: Lymphadenopathy |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0649 | INHERITED FROM: Abnormality of the pulmonary vasculature || Elevated pulmonary artery pressure || Abnormal morphology of the great vessels || Tetralogy of Fallot |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.08542 | INHERITED FROM: Cerebral hemorrhage || Purpura |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.1941 | INHERITED FROM: Abnormality of the pulmonary vasculature || Thoracic aortic aneurysm || Congenital malformation of the great arteries || Abnormal morphology of the great vessels || Tetralogy of Fallot || Abnormality of the pulmonary artery |
57184,57581,57196
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.3329 | INHERITED FROM: Dilatation |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.3329 | INHERITED FROM: Abnormality of the pulmonary vasculature || Congenital malformation of the great arteries || Abnormal pulmonary artery morphology || Abnormality of the pulmonary artery |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0.3329 | INHERITED FROM: Dilatation |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.5951 | INHERITED FROM: Dilatation |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.5951 | INHERITED FROM: Dilatation |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.5951 | INHERITED FROM: Asplenia || Aplasia/Hypoplasia of the spleen |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | Direct |
49562,48371,56112
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat
56112 - Protein kinase-like (PK-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 |
55781,55781,109604
55781 - GAF domain-like
55781 - GAF domain-like
109604 - HD-domain/PDEase-like | 0 | Direct |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.004062 | Inherited |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.04835 | Inherited |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.06379 | Inherited |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.06379 | Inherited |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0649 | Inherited |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.08542 | Inherited |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.1941 | Inherited |
57184,57581,57196
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.3329 | Inherited |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.3329 | Inherited |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0.3329 | Inherited |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.5951 | Inherited |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.5951 | Inherited |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.5951 | 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
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