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Phenotypic Abnormality (PA): Abnormality of the cardiovascular system
(show info)
Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
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) |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| Proteasome subunits | 0 | DIRECT |
| Creatinase/aminopeptidase | 0 | DIRECT |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
| ZZ domain | 0 | DIRECT |
| GLA-domain | 0 | DIRECT |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| Cytochrome p450 reductase N-terminal domain-like | 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 |
| Erythroid transcription factor GATA-1 | 0 | DIRECT |
| Plakin repeat | 0 | DIRECT |
| Putative glucosidase YicI, domain 3 | 0 | DIRECT |
| Sec1/munc18-like (SM) proteins | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | DIRECT |
| Multidomain cupredoxins | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| EGF-type module | 0.005675 | INHERITED FROM: Abnormal cardiac septum morphology || Abnormal atrioventricular valve physiology || Aortic valve stenosis || Ventricular septal defect |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.01305 | INHERITED FROM: Cardiomyopathy || Intracranial hemorrhage || Sudden cardiac death |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.01305 | INHERITED FROM: Cardiomyopathy || Intracranial hemorrhage || Sudden cardiac death |
| Actin/HSP70 | 0.01305 | INHERITED FROM: Abnormality of cardiovascular system morphology || Transient ischemic attack || Cerebral ischemia || Stroke |
| Growth factor receptor domain | 0.02114 | INHERITED FROM: Bicuspid aortic valve || Abnormal aortic valve cusp morphology || Abnormal vascular morphology || Ventricular septal defect |
| Tropomyosin | 0.02184 | INHERITED FROM: Dilated cardiomyopathy || Aortic aneurysm |
| TNF receptor-like | 0.03001 | INHERITED FROM: Abnormality of the lymphatic system || Splenomegaly || Abnormal spleen morphology |
| PX domain | 0.03604 | INHERITED FROM: Splenomegaly |
| Spectrin repeat | 0.04766 | INHERITED FROM: Cardiomyopathy || Heart block |
| Globins | 0.05913 | INHERITED FROM: Abnormality of the lymphatic system || Abnormality of the spleen || Splenomegaly || Abnormal spleen morphology |
| Amylase, catalytic domain | 0.0952 | INHERITED FROM: Cardiomyopathy || Abnormal myocardium morphology |
| DNA gyrase/MutL, second domain | 0.0952 | INHERITED FROM: Abnormal cardiac ventricle morphology || Internal hemorrhage || Abnormality of blood circulation || Gastrointestinal hemorrhage || Cardiac diverticulum |
| SMAD MH1 domain | 0.0952 | INHERITED FROM: Abnormal aortic valve physiology || Aortic dissection || Abnormal heart valve morphology || Dilatation || Abnormal aortic morphology || Aortic aneurysm |
| SMAD domain | 0.0952 | INHERITED FROM: Abnormal aortic valve physiology || Aortic dissection || Abnormal heart valve morphology || Dilatation || Abnormal aortic morphology || Aortic aneurysm |
| DNA gyrase/MutL, N-terminal domain | 0.0952 | INHERITED FROM: Abnormal cardiac ventricle morphology || Internal hemorrhage || Abnormality of blood circulation || Gastrointestinal hemorrhage || Cardiac diverticulum |
| Pyrin domain, PYD | 0.0952 | INHERITED FROM: Lymphadenopathy || Abnormality of the lymphatic system || Conjunctivitis || Abnormality of the spleen || Red eye || Splenomegaly || Abnormal spleen morphology |
| ABC transporter ATPase domain-like | 0.1033 | INHERITED FROM: Abnormal coronary artery morphology || Premature coronary artery atherosclerosis || Atherosclerosis |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.105 | INHERITED FROM: Telangiectasia |
| Protein kinases, catalytic subunit | 0.1086 | INHERITED FROM: Atrial septal defect || Hemangioma |
| Calponin-homology domain, CH-domain | 0.1191 | INHERITED FROM: Heart block |
| Myosin rod fragments | 0.1431 | INHERITED FROM: Abnormal aortic valve morphology || Abnormal left ventricle morphology || Abnormal cardiac ventricular function || Left ventricular dysfunction || Cerebral ischemia |
| Histone lysine methyltransferases | 0.1431 | INHERITED FROM: Abnormal cardiac septum morphology |
| RecA protein-like (ATPase-domain) | 0.1431 | INHERITED FROM: Cardiomyopathy || Abnormal carotid artery morphology || Arteriovenous malformation |
| Double-stranded RNA-binding domain (dsRBD) | 0.1519 | INHERITED FROM: Abnormal systemic arterial morphology |
| NADPH-cytochrome p450 reductase-like | 0.1519 | INHERITED FROM: Increased blood pressure |
| NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.1519 | INHERITED FROM: Increased blood pressure |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.1543 | INHERITED FROM: Bruising susceptibility |
| MIR domain | 0.1543 | INHERITED FROM: Abnormal cardiac ventricular function || Left ventricular dysfunction || Left ventricular hypertrophy |
| Tetratricopeptide repeat (TPR) | 0.1868 | INHERITED FROM: Aplasia/Hypoplasia of the spleen || Hypoplasia of the thymus || Abnormal anatomic location of the heart || Aplasia/Hypoplasia of the thymus || Dextrocardia || Situs inversus totalis || Abnormal spatial orientation of the cardiac segments || Asplenia |
| PHD domain | 0.1868 | INHERITED FROM: Abnormal cardiac septum morphology || Abnormal cardiac atrium morphology || Atrial septal defect || Ventricular septal defect |
| Cytoplasmic domain of inward rectifier potassium channel | 0.1997 | INHERITED FROM: Abnormal cardiac test || Prolonged QT interval || Tachycardia || Atrioventricular block || Heart block || Abnormal atrioventricular conduction || Arrhythmia |
| Integrin domains | 0.1997 | INHERITED FROM: Macular purpura || Spontaneous hematomas || Melena || Purpura || Ecchymosis || Petechiae || Intracranial hemorrhage || Subarachnoid hemorrhage |
| DEATH domain, DD | 0.2029 | INHERITED FROM: Lymphadenopathy || Vasculitis || Subcutaneous hemorrhage || Splenomegaly |
| C1 set domains (antibody constant domain-like) | 0.2029 | INHERITED FROM: Abnormal pericardium morphology || Vasculitis || Pericarditis || Keratoconjunctivitis sicca |
| HMG-box | 0.2144 | INHERITED FROM: Cutis marmorata |
| ARID domain | 0.225 | INHERITED FROM: Cutis marmorata |
| Transcription factor STAT-4 N-domain | 0.225 | INHERITED FROM: Lymphadenopathy |
| Ras-binding domain, RBD | 0.225 | INHERITED FROM: Abnormality of the spleen |
| STAT DNA-binding domain | 0.225 | INHERITED FROM: Lymphadenopathy |
| DnaQ-like 3'-5' exonuclease | 0.225 | INHERITED FROM: Telangiectasia |
| Extracellular domain of cell surface receptors | 0.225 | INHERITED FROM: Abnormal cardiac ventricle morphology || Abnormal morphology of the great vessels |
| STAT | 0.225 | INHERITED FROM: Lymphadenopathy |
| MHC antigen-recognition domain | 0.2349 | INHERITED FROM: Abnormal pericardium morphology || Vasculitis || Pericarditis |
| Transforming growth factor (TGF)-beta | 0.2477 | INHERITED FROM: Transient ischemic attack |
| Eukaryotic proteases | 0.2504 | INHERITED FROM: Joint hemorrhage |
| TNF-like | 0.2883 | INHERITED FROM: Abnormality of the lymph nodes |
| T-box | 0.2883 | INHERITED FROM: Abnormal cardiac septum morphology || Atrial septal defect |
| Fibrinogen C-terminal domain-like | 0.31 | INHERITED FROM: Internal hemorrhage || Abnormality of the cerebral vasculature || Splenic rupture |
| 28-residue LRR | 0.31 | INHERITED FROM: Lymphadenopathy || Conjunctivitis || Red eye || Splenomegaly |
| Caspase recruitment domain, CARD | 0.3233 | INHERITED FROM: Lymphadenopathy || Abnormality of the lymph nodes |
| LIM domain | 0.3385 | INHERITED FROM: Cardiomyopathy || Cardiac arrest || Abnormal myocardium morphology || Sudden cardiac death |
| VWC domain | 0.3712 | INHERITED FROM: Mitral valve prolapse || Abnormal venous morphology || Abnormal heart valve morphology || Thoracic aortic aneurysm || Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology || Arterial dissection || Venous insufficiency || Ascending tubular aorta aneurysm || Bruising susceptibility || Aortic aneurysm |
| G proteins | 0.3889 | INHERITED FROM: Pulmonic stenosis |
| Hemopexin-like domain | 0.4041 | INHERITED FROM: Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology |
| Voltage-gated potassium channels | 0.4858 | INHERITED FROM: Abnormal cardiac test || Prolonged QT interval || ST segment elevation || Syncope || Abnormal EKG || Atrial fibrillation || Ventricular arrhythmia || Atrioventricular block || Heart block || Abnormal atrioventricular conduction || Arrhythmia || Paroxysmal ventricular tachycardia || Trifascicular block |
| Matrix metalloproteases, catalytic domain | 0.511 | INHERITED FROM: Abnormal aortic valve morphology || Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology |
| MMP N-terminal domain | 0.511 | INHERITED FROM: Abnormal aortic valve morphology || Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology |
| Cadherin | 0.6429 | INHERITED FROM: Palpitations |
| V set domains (antibody variable domain-like) | 0.7283 | INHERITED FROM: Syncope |
| Calmodulin-like | 0.795 | INHERITED FROM: Abnormal cardiac test || Ventricular fibrillation || Ventricular tachycardia |
| Second domain of FERM | 0.8609 | INHERITED FROM: Cerebral hemorrhage |
| Ngr ectodomain-like | 0.9522 | INHERITED FROM: Spontaneous hematomas || Hematemesis |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.9658 | INHERITED FROM: Hypoplastic heart |
| Nicotinic receptor ligand binding domain-like | 0.9658 | INHERITED FROM: Hypoplastic heart |
| Intermediate filament protein, coiled coil region | 0.9661 | INHERITED FROM: Erythema |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| Proteasome subunits | 0 | Direct |
| Creatinase/aminopeptidase | 0 | Direct |
| Multidrug efflux transporter AcrB transmembrane domain | 0 | Direct |
| ZZ domain | 0 | Direct |
| GLA-domain | 0 | Direct |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
| Apolipoprotein A-I | 0 | Direct |
| Cytochrome p450 reductase N-terminal domain-like | 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 |
| Erythroid transcription factor GATA-1 | 0 | Direct |
| Plakin repeat | 0 | Direct |
| Putative glucosidase YicI, domain 3 | 0 | Direct |
| Sec1/munc18-like (SM) proteins | 0 | Direct |
| TB module/8-cys domain | 0 | Direct |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | Direct |
| Multidomain cupredoxins | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| EGF-type module | 0.005675 | Inherited |
| Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0.01305 | Inherited |
| Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0.01305 | Inherited |
| Actin/HSP70 | 0.01305 | Inherited |
| Growth factor receptor domain | 0.02114 | Inherited |
| Tropomyosin | 0.02184 | Inherited |
| TNF receptor-like | 0.03001 | Inherited |
| PX domain | 0.03604 | Inherited |
| Spectrin repeat | 0.04766 | Inherited |
| Globins | 0.05913 | Inherited |
| Amylase, catalytic domain | 0.0952 | Inherited |
| DNA gyrase/MutL, second domain | 0.0952 | Inherited |
| SMAD MH1 domain | 0.0952 | Inherited |
| SMAD domain | 0.0952 | Inherited |
| DNA gyrase/MutL, N-terminal domain | 0.0952 | Inherited |
| Pyrin domain, PYD | 0.0952 | Inherited |
| ABC transporter ATPase domain-like | 0.1033 | Inherited |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.105 | Inherited |
| Protein kinases, catalytic subunit | 0.1086 | Inherited |
| Calponin-homology domain, CH-domain | 0.1191 | Inherited |
| Myosin rod fragments | 0.1431 | Inherited |
| Histone lysine methyltransferases | 0.1431 | Inherited |
| RecA protein-like (ATPase-domain) | 0.1431 | Inherited |
| Double-stranded RNA-binding domain (dsRBD) | 0.1519 | Inherited |
| NADPH-cytochrome p450 reductase-like | 0.1519 | Inherited |
| NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.1519 | Inherited |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.1543 | Inherited |
| MIR domain | 0.1543 | Inherited |
| Tetratricopeptide repeat (TPR) | 0.1868 | Inherited |
| PHD domain | 0.1868 | Inherited |
| Cytoplasmic domain of inward rectifier potassium channel | 0.1997 | Inherited |
| Integrin domains | 0.1997 | Inherited |
| DEATH domain, DD | 0.2029 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.2029 | Inherited |
| HMG-box | 0.2144 | Inherited |
| ARID domain | 0.225 | Inherited |
| Transcription factor STAT-4 N-domain | 0.225 | Inherited |
| Ras-binding domain, RBD | 0.225 | Inherited |
| STAT DNA-binding domain | 0.225 | Inherited |
| DnaQ-like 3'-5' exonuclease | 0.225 | Inherited |
| Extracellular domain of cell surface receptors | 0.225 | Inherited |
| STAT | 0.225 | Inherited |
| MHC antigen-recognition domain | 0.2349 | Inherited |
| Transforming growth factor (TGF)-beta | 0.2477 | Inherited |
| Eukaryotic proteases | 0.2504 | Inherited |
| TNF-like | 0.2883 | Inherited |
| T-box | 0.2883 | Inherited |
| Fibrinogen C-terminal domain-like | 0.31 | Inherited |
| 28-residue LRR | 0.31 | Inherited |
| Caspase recruitment domain, CARD | 0.3233 | Inherited |
| LIM domain | 0.3385 | Inherited |
| VWC domain | 0.3712 | Inherited |
| G proteins | 0.3889 | Inherited |
| Hemopexin-like domain | 0.4041 | Inherited |
| Voltage-gated potassium channels | 0.4858 | Inherited |
| Matrix metalloproteases, catalytic domain | 0.511 | Inherited |
| MMP N-terminal domain | 0.511 | Inherited |
| Cadherin | 0.6429 | Inherited |
| V set domains (antibody variable domain-like) | 0.7283 | Inherited |
| Calmodulin-like | 0.795 | Inherited |
| Second domain of FERM | 0.8609 | Inherited |
| Ngr ectodomain-like | 0.9522 | Inherited |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.9658 | Inherited |
| Nicotinic receptor ligand binding domain-like | 0.9658 | Inherited |
| Intermediate filament protein, coiled coil region | 0.9661 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Plot tree as:
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Download Newick format tree:
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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)
(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) |
75399,75399
75399 - Plakin repeat
75399 - Plakin repeat | 0 | DIRECT |
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 |
48726,56112
48726 - Immunoglobulin
56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | DIRECT |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | DIRECT |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
49503,49503
49503 - Cupredoxins
49503 - Cupredoxins | 0 | DIRECT |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | DIRECT |
64268,50044
64268 - PX domain
50044 - SH3-domain | 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 |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0 | DIRECT |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
57196,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module | 0 | DIRECT |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.007014 | INHERITED FROM: Conjunctivitis || Abnormality of the lymphatic system || Vasculitis || Splenomegaly || Abnormal spleen morphology || Red eye |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.01191 | INHERITED FROM: Abnormality of the vasculature || Increased blood pressure || Abnormal mitral valve physiology |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.01759 | INHERITED FROM: Abnormal heart valve physiology || Pulmonic stenosis || Abnormal aortic valve cusp morphology || Abnormal morphology of the great vessels || Abnormal ventriculoarterial connection || Aortic valve stenosis || Abnormality of the pulmonary artery || Abnormality of the pulmonary vasculature || Abnormal atrioventricular valve morphology || Ventricular septal defect || Abnormal mitral valve morphology || Bicuspid aortic valve || Tetralogy of Fallot || Abnormality of cardiovascular system morphology || Abnormal mitral valve physiology |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.02983 | INHERITED FROM: Transient ischemic attack |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02983 | INHERITED FROM: Abnormal heart valve physiology || Pulmonic stenosis || Abnormal cardiac septum morphology || Abnormal aortic valve cusp morphology || Abnormal morphology of the great vessels || Abnormal ventricular septum morphology || Abnormal atrioventricular valve physiology || Aortic valve stenosis || Thoracic aortic aneurysm || Abnormality of the pulmonary vasculature || Ventricular septal defect || Abnormal cardiac ventricle morphology || Bicuspid aortic valve || Tetralogy of Fallot |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.04717 | INHERITED FROM: Ventricular septal defect |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.05642 | INHERITED FROM: Cerebral hemorrhage || Vascular skin abnormality |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.06536 | INHERITED FROM: Abnormal aortic valve cusp morphology || Abnormal atrioventricular valve physiology || Aortic valve stenosis || Thoracic aortic aneurysm || Mitral regurgitation || Bicuspid aortic valve || Abnormal mitral valve physiology |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.08657 | INHERITED FROM: Heart block |
47986,47986
47986 - DEATH domain
47986 - DEATH domain | 0.08995 | INHERITED FROM: Lymphadenopathy || Abnormality of the lymph nodes |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.08995 | INHERITED FROM: Internal hemorrhage || Abnormality of blood circulation || Cardiac diverticulum || Gastrointestinal hemorrhage || Abnormal cardiac ventricle morphology |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.08995 | INHERITED FROM: Conjunctivitis || Lymphadenopathy || Abnormality of the spleen || Abnormality of the lymphatic system || Splenomegaly || Vascular skin abnormality || Abnormal spleen morphology || Abnormality of the lymph nodes || Red eye |
56645,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0.09466 | INHERITED FROM: Sudden cardiac death |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.09903 | INHERITED FROM: Abnormal aortic valve morphology |
48371,56112
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.146 | INHERITED FROM: Splenomegaly |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.158 | INHERITED FROM: Abnormal aortic valve cusp morphology || Cardiomyopathy || Arrhythmia || Aortic valve stenosis || Abnormal endocardium morphology || Sudden cardiac death || Bicuspid aortic valve || Hypoplastic left heart |
81324,81296
81324 - Voltage-gated potassium channels
81296 - E set domains | 0.19 | INHERITED FROM: Atrioventricular block || Prolonged QT interval || Arrhythmia || Abnormal atrioventricular conduction || Tachycardia || Abnormal cardiac test || Heart block |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.2158 | INHERITED FROM: Lymphadenopathy |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.2158 | INHERITED FROM: Lymphadenopathy |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.2158 | INHERITED FROM: Lymphadenopathy |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.2231 | INHERITED FROM: Cerebral ischemia || Vasculitis || Pericarditis || Abnormal pericardium morphology |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.2231 | INHERITED FROM: Orthostatic hypotension due to autonomic dysfunction || Orthostatic hypotension || Hypotension |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.4962 | INHERITED FROM: Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology || Abnormal aortic valve morphology |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.9476 | INHERITED FROM: Hypoplastic heart |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399
75399 - Plakin repeat
75399 - Plakin repeat | 0 | Direct |
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 |
48726,56112
48726 - Immunoglobulin
56112 - Protein kinase-like (PK-like) | 0 | Direct |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | Direct |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | Direct |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
49503,49503
49503 - Cupredoxins
49503 - Cupredoxins | 0 | Direct |
55781,55781
55781 - GAF domain-like
55781 - GAF domain-like | 0 | Direct |
64268,50044
64268 - PX domain
50044 - SH3-domain | 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 |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0 | Direct |
57184,57581
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
57196,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module | 0 | Direct |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.007014 | Inherited |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.01191 | Inherited |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.01759 | Inherited |
53067,53067
53067 - Actin-like ATPase domain
53067 - Actin-like ATPase domain | 0.02983 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02983 | Inherited |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.04717 | Inherited |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.05642 | Inherited |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.06536 | Inherited |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.08657 | Inherited |
47986,47986
47986 - DEATH domain
47986 - DEATH domain | 0.08995 | Inherited |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.08995 | Inherited |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.08995 | Inherited |
56645,47203
56645 - Acyl-CoA dehydrogenase NM domain-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0.09466 | Inherited |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.09903 | Inherited |
48371,56112
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.146 | Inherited |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.158 | Inherited |
81324,81296
81324 - Voltage-gated potassium channels
81296 - E set domains | 0.19 | Inherited |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.2158 | Inherited |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.2158 | Inherited |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.2158 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.2231 | Inherited |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.2231 | Inherited |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.4962 | Inherited |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.9476 | 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 |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 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 |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | DIRECT |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
63825,57196,57424
63825 - YWTD domain
57196 - EGF/Laminin
57424 - LDL receptor-like module | 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 |
57196,57424,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | DIRECT |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | DIRECT |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | DIRECT |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
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 |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.003994 | INHERITED FROM: Pulmonic stenosis || Abnormal cardiac septum morphology || Abnormal aortic valve cusp morphology || Abnormal morphology of the great vessels || Abnormal ventricular septum morphology || Abnormal ventriculoarterial connection || Abnormal atrioventricular valve physiology || Aortic valve stenosis || Abnormality of the pulmonary vasculature || Elevated pulmonary artery pressure || Increased blood pressure || Ventricular septal defect || Abnormal cardiac ventricle morphology || Bicuspid aortic valve || Tetralogy of Fallot |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.007014 | INHERITED FROM: Cerebral hemorrhage || Hypertension || Increased blood pressure || Purpura |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.02023 | INHERITED FROM: Abnormal aortic valve cusp morphology || Abnormal atrioventricular valve physiology || Mitral regurgitation || Ventricular septal defect || Bicuspid aortic valve || Abnormal mitral valve physiology || Abnormal aortic valve morphology |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.03346 | INHERITED FROM: Abnormal heart valve physiology || Pulmonic stenosis || Abnormal cardiac septum morphology || Abnormal aortic valve cusp morphology || Abnormal morphology of the great vessels || Abnormal ventricular septum morphology || Abnormal ventriculoarterial connection || Abnormal atrioventricular valve physiology || Aortic valve stenosis || Abnormality of the pulmonary artery || Congenital malformation of the great arteries || Thoracic aortic aneurysm || Abnormality of the pulmonary vasculature || Abnormal atrioventricular valve morphology || Atrial septal defect || Ventricular septal defect || Abnormal mitral valve morphology || Abnormal cardiac ventricle morphology || Bicuspid aortic valve || Tetralogy of Fallot || Abnormal mitral valve physiology || Abnormal aortic valve morphology || Abnormal heart morphology |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.03346 | INHERITED FROM: Abnormal aortic valve cusp morphology || Abnormal ventricular septum morphology || Abnormal atrioventricular valve physiology || Congenital malformation of the great arteries || Thoracic aortic aneurysm || Ventricular septal defect || Abnormal mitral valve morphology || Bicuspid aortic valve || Aortic aneurysm || Abnormal heart valve morphology || Abnormal mitral valve physiology || Abnormal aortic valve morphology |
57716,57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.09903 | INHERITED FROM: Cardiac arrest || Cardiomyopathy || Sudden cardiac death || Abnormal myocardium morphology |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.1213 | INHERITED FROM: Cardiomyopathy || Heart block |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.146 | INHERITED FROM: Splenomegaly |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.2158 | INHERITED FROM: Lymphadenopathy |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.2158 | INHERITED FROM: Lymphadenopathy |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.263 | INHERITED FROM: Abnormal anatomic location of the heart || Aplasia/Hypoplasia of the spleen || Dextrocardia || Abnormal spatial orientation of the cardiac segments || Asplenia || Situs inversus totalis |
| 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 |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 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 |
57184,57184,57581
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0 | Direct |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
63825,57196,57424
63825 - YWTD domain
57196 - EGF/Laminin
57424 - LDL receptor-like module | 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 |
57196,57424,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | Direct |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | Direct |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | Direct |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
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 |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.003994 | Inherited |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.007014 | Inherited |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.02023 | Inherited |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.03346 | Inherited |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.03346 | Inherited |
57716,57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.09903 | Inherited |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.1213 | Inherited |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.146 | Inherited |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.2158 | Inherited |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.2158 | 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 | 0.263 | 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.
|
