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Mammalian Phenotype (MP): cardiovascular system phenotype
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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: MP Hierarchy (mammalian/mouse phenotype from MGI_4.41)
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 MP term (SDMP level: Least Informative)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Anaphylotoxins (complement system) | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| Peptidylglycine alpha-hydroxylating monooxygenase, PHM | 0 | DIRECT |
| Transcriptional factor tubby, C-terminal domain | 0 | DIRECT |
| SMAD MH1 domain | 0 | DIRECT |
| Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain | 0 | DIRECT |
| p53 DNA-binding domain-like | 0 | DIRECT |
| Nitric oxide (NO) synthase oxygenase domain | 0 | DIRECT |
| Interleukin-1 (IL-1) | 0 | DIRECT |
| p53 tetramerization domain | 0 | DIRECT |
| SMAD domain | 0 | DIRECT |
| N-acetylmuramoyl-L-alanine amidase-like | 0 | DIRECT |
| Retinoblastoma tumor suppressor domains | 0 | DIRECT |
| SRF-like | 0 | DIRECT |
| Cytochrome p450 reductase N-terminal domain-like | 0 | DIRECT |
| EGF-type module | 0.000001162 | DIRECT |
| Nuclear receptor | 0.000003142 | DIRECT |
| Growth factor receptor domain | 0.000004263 | DIRECT |
| Nuclear receptor ligand-binding domain | 0.00001158 | DIRECT |
| Protein kinases, catalytic subunit | 0.0004434 | DIRECT |
| Platelet-derived growth factor-like | 0.0005232 | DIRECT |
| TB module/8-cys domain | 0.0005232 | DIRECT |
| Extracellular domain of cell surface receptors | 0.0009735 | DIRECT |
| GLA-domain | 0.001282 | INHERITED FROM: hemorrhage || abnormal cardiovascular system physiology |
| L domain | 0.001471 | INHERITED FROM: abnormal fetal atrioventricular canal morphology || abnormal myocardium layer morphology || thin interventricular septum || abnormal atrioventricular cushion morphology || heart block || abnormal cardiovascular system physiology || abnormal heartbeat || abnormal QT interval || abnormal heart electrocardiography waveform feature || decreased cardiac muscle contractility || abnormal interventricular septum thickness || thin ventricular wall || dilated cardiomyopathy || decreased atrioventricular cushion size || abnormal heart morphology || prolonged QT interval || abnormal cardiovascular system morphology || cardiomyopathy |
| VWC domain | 0.003313 | INHERITED FROM: hemorrhage || abnormal cardiovascular system physiology || abnormal cardiovascular system morphology |
| DIX domain | 0.004061 | INHERITED FROM: abnormal truncus arteriosus septation || persistent truncus arteriosis || double outlet right ventricle || abnormal aorticopulmonary septum morphology || abnormal cardiovascular development || abnormal heart morphology || transposition of great arteries |
| Forkhead DNA-binding domain | 0.004538 | INHERITED FROM: abnormal aortic arch morphology || disorganized myocardium || ventricular septal defect || corneal vascularization |
| Integrin beta EGF-like domains | 0.006207 | INHERITED FROM: abnormal angiogenesis || abnormal blood vessel morphology |
| Erythroid transcription factor GATA-1 | 0.006207 | INHERITED FROM: abnormal aorta morphology || hemorrhage || abnormal systemic artery morphology || abnormal fetal cardiomyocyte morphology || thin myocardium || abnormal myocardium compact layer morphology || thin ventricular wall || abnormal fetal cardiomyocyte proliferation || abnormal heart ventricle wall thickness || abnormal fetal cardiomyocyte physiology || thin myocardium compact layer || abnormal cardiovascular development || ventricular septal defect || abnormal heart tube morphology || abnormal thoracic aorta morphology |
| Integrin domains | 0.006701 | INHERITED FROM: abnormal glomerular capillary morphology |
| NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.007064 | INHERITED FROM: abnormal myocardium layer morphology || abnormal placental labyrinth vasculature morphology || abnormal dorsal aorta morphology || abnormal cardiovascular system physiology || trabecula carnea hypoplasia || ventricle myocardium hypoplasia |
| Hypoxia-inducible factor Hif2a, C-terminal domain | 0.007064 | INHERITED FROM: abnormal vascular regression || abnormal heart weight || decreased heart rate || abnormal heart rate |
| Rel/Dorsal transcription factors, DNA-binding domain | 0.007147 | INHERITED FROM: abnormal myocardium layer morphology || cardiac hypertrophy || abnormal cardiovascular system physiology || internal hemorrhage |
| Frizzled cysteine-rich domain | 0.01033 | INHERITED FROM: disorganized yolk sac vascular plexus |
| Notch domain | 0.01084 | INHERITED FROM: pericardial edema || abnormal artery morphology || abnormal angiogenesis || abnormal blood vessel morphology || abnormal retinal blood vessel morphology || abnormal cardiovascular development |
| NADPH-cytochrome p450 reductase-like | 0.01084 | INHERITED FROM: hypertension || pathological neovascularization || thick ventricular wall || abnormal artery morphology || abnormal liver vasculature morphology || increased systemic arterial systolic blood pressure || abnormal kidney thrombosis || decreased systemic arterial blood pressure || abnormal glomerular capillary morphology || arteriosclerosis || abnormal angiogenesis || glomerular capillary thrombosis || abnormal lung vasculature morphology || liver vascular congestion || abnormal heart weight || abnormal coronary vessel morphology || abnormal heart ventricle morphology || visceral vascular congestion || vasculature congestion || abnormal kidney blood vessel morphology || increased systemic arterial blood pressure || decreased cardiac muscle contractility || abnormal vascular wound healing || abnormal blood circulation || perivascular fibrosis || pulmonary vascular congestion || abnormal coronary artery morphology || abnormal capillary morphology || abnormal vascular endothelial cell physiology || decreased heart rate || abnormal cardiovascular development || congestive heart failure || abnormal kidney capillary morphology || abnormal heart rate || abnormal heart left ventricle pressure || abnormal heart ventricle pressure |
| NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.01084 | INHERITED FROM: hypertension || pathological neovascularization || thick ventricular wall || abnormal artery morphology || abnormal liver vasculature morphology || increased systemic arterial systolic blood pressure || abnormal kidney thrombosis || decreased systemic arterial blood pressure || abnormal glomerular capillary morphology || arteriosclerosis || abnormal angiogenesis || glomerular capillary thrombosis || abnormal lung vasculature morphology || liver vascular congestion || abnormal heart weight || abnormal coronary vessel morphology || abnormal heart ventricle morphology || visceral vascular congestion || vasculature congestion || abnormal kidney blood vessel morphology || increased systemic arterial blood pressure || decreased cardiac muscle contractility || abnormal vascular wound healing || abnormal blood circulation || perivascular fibrosis || pulmonary vascular congestion || abnormal coronary artery morphology || abnormal capillary morphology || abnormal vascular endothelial cell physiology || decreased heart rate || abnormal cardiovascular development || congestive heart failure || abnormal kidney capillary morphology || abnormal heart rate || abnormal heart left ventricle pressure || abnormal heart ventricle pressure |
| T-box | 0.01169 | INHERITED FROM: atrial septal defect || abnormal atrioventricular valve morphology || abnormal heart development |
| Rhodopsin-like | 0.01297 | INHERITED FROM: abnormal cardiovascular system physiology || abnormal systemic arterial blood pressure |
| Integrin beta tail domain | 0.01483 | INHERITED FROM: abnormal blood vessel morphology |
| Pointed domain | 0.01483 | INHERITED FROM: abnormal blood vessel physiology || hemorrhage || abnormal blood vessel morphology || abnormal vascular development || dilated vasculature || abnormal cardiovascular development |
| Phoshoinositide 3-kinase (PI3K) helical domain | 0.01483 | INHERITED FROM: abnormal heart size |
| Cell cycle transcription factor e2f-dp | 0.01591 | INHERITED FROM: hemorrhage |
| LIM domain | 0.01779 | INHERITED FROM: dilated heart ventricle || visceral vascular congestion || vasculature congestion || decreased cardiac muscle contractility || abnormal heart left ventricle morphology |
| Ras-binding domain, RBD | 0.02119 | INHERITED FROM: thick ventricular wall |
| Spectrin repeat | 0.02119 | INHERITED FROM: abnormal myocardium layer morphology || heart block || prolonged QRS complex duration || intraventricular block || abnormal QRS complex |
| Myosin rod fragments | 0.0221 | INHERITED FROM: cardiac hypertrophy || cardiac interstitial fibrosis || abnormal heart ventricle wall thickness |
| Aromatic aminoacid monoxygenases, catalytic and oligomerization domains | 0.02789 | INHERITED FROM: abnormal heartbeat |
| Phenylalanine metabolism regulatory domain | 0.02789 | INHERITED FROM: abnormal heartbeat |
| Matrix metalloproteases, catalytic domain | 0.02926 | INHERITED FROM: decreased angiogenesis || retinal neovascularization || aortic aneurysm || abnormal induced retinal neovascularization || aneurysm |
| Regulator of G-protein signaling, RGS | 0.02964 | INHERITED FROM: enlarged pericardium |
| Histone deacetylase, HDAC | 0.03172 | INHERITED FROM: hemorrhage || cardiac hypertrophy || abnormal heart ventricle morphology |
| Inhibitor of apoptosis (IAP) repeat | 0.03408 | INHERITED FROM: hemopericardium || hemorrhage || enlarged pericardium || decreased cardiac muscle contractility || abnormal pericardial cavity morphology || abnormal pericardium morphology || abnormal blood circulation || internal hemorrhage || congestive heart failure || abnormal heart atrium morphology |
| ZZ domain | 0.03409 | INHERITED FROM: abnormal myocardium layer morphology || abnormal vitelline vasculature morphology |
| Transducin (alpha subunit), insertion domain | 0.04039 | INHERITED FROM: decreased systemic arterial blood pressure || decreased vasoconstriction || abnormal vascular smooth muscle physiology || abnormal vasoconstriction |
| MMP N-terminal domain | 0.05075 | INHERITED FROM: decreased angiogenesis || pathological neovascularization || retinal neovascularization || aortic aneurysm || abnormal induced retinal neovascularization || aneurysm |
| WW domain | 0.06149 | INHERITED FROM: prolonged QRS complex duration || intraventricular block || increased cardiomyocyte apoptosis |
| Anion transport protein, cytoplasmic domain | 0.06278 | INHERITED FROM: abnormal heart rate |
| YWTD domain | 0.07141 | INHERITED FROM: abnormal aorta morphology || abnormal blood vessel physiology || abnormal systemic artery morphology || abnormal descending aorta morphology |
| Kringle modules | 0.07141 | INHERITED FROM: pathological neovascularization || decreased susceptibility to induced choroidal neovascularization || abnormal choroid vasculature morphology || choroidal neovascularization |
| alpha-catenin/vinculin | 0.07592 | INHERITED FROM: dilated cardiomyopathy || dilated heart || cardiomyopathy |
| HMG-box | 0.08968 | INHERITED FROM: persistent truncus arteriosis |
| Transforming growth factor (TGF)-beta | 0.105 | INHERITED FROM: abnormal heart position or orientation || abnormal atrioventricular cushion morphology || atrial septal defect || abnormal atrioventricular valve morphology || complete atrioventricular septal defect || atrioventricular septal defect || absent vitelline blood vessels |
| Hemopexin-like domain | 0.1227 | INHERITED FROM: decreased angiogenesis || aortic aneurysm || aneurysm |
| DEP domain | 0.1446 | INHERITED FROM: abnormal cardiac outflow tract development || abnormal truncus arteriosus septation || persistent truncus arteriosis || double outlet right ventricle || abnormal aorticopulmonary septum morphology || transposition of great arteries |
| Linker histone H1/H5 | 0.1744 | INHERITED FROM: enlarged pericardium || abnormal vitelline vasculature morphology || abnormal pericardium morphology || absent vitelline blood vessels |
| Hairy Orange domain | 0.212 | INHERITED FROM: abnormal heart right ventricle outflow tract morphology || abnormal fetal atrioventricular canal morphology || pulmonary valve stenosis || abnormal heart atrium and ventricle connection || abnormal atrioventricular cushion morphology || abnormal atrioventricular valve morphology || abnormal heart valve morphology || abnormal pulmonary valve morphology || increased heart ventricle size || abnormal heart ventricle outflow tract morphology || abnormal semilunar valve morphology || thick pulmonary valve || abnormal interventricular septum morphology || heart right ventricle outflow tract stenosis || perimembraneous ventricular septal defect || abnormal heart right ventricle morphology || abnormal interventricular septum membranous part morphology || ventricular septal defect || abnormal cardiac epithelial to mesenchymal transition |
| Cytochrome P450 | 0.2262 | INHERITED FROM: increased systemic arterial blood pressure || abnormal systemic arterial blood pressure |
| Adenylyl and guanylyl cyclase catalytic domain | 0.2623 | INHERITED FROM: increased systemic arterial systolic blood pressure || abnormal vasodilation |
| Fibroblast growth factors (FGF) | 0.2643 | INHERITED FROM: heart hypoplasia || abnormal aortic arch and aortic arch branch attachment || abnormal right subclavian artery morphology || aberrant origin of the right subclavian artery || abnormal subclavian artery morphology || abnormal heart atrium morphology |
| ets domain | 0.309 | INHERITED FROM: abnormal vascular development || abnormal vascular endothelial cell morphology |
| HLH, helix-loop-helix DNA-binding domain | 0.3663 | INHERITED FROM: abnormal cardiac epithelial to mesenchymal transition || common ventricle |
| Toll/Interleukin receptor TIR domain | 0.4101 | INHERITED FROM: gastrointestinal hemorrhage || rectal hemorrhage || abnormal vascular wound healing |
| Homeodomain | 0.417 | INHERITED FROM: abnormal systemic artery morphology || retroesophageal right subclavian artery |
| Cyclin | 0.419 | INHERITED FROM: abnormal interventricular septum morphology |
| Blood coagulation inhibitor (disintegrin) | 0.419 | INHERITED FROM: abnormal mitral valve morphology || abnormal heart right ventricle outflow tract morphology || abnormal heart atrium and ventricle connection || abnormal atrioventricular valve morphology || abnormal heart valve morphology || abnormal tricuspid valve morphology || abnormal pulmonary valve morphology || abnormal heart ventricle outflow tract morphology || double outlet right ventricle || abnormal semilunar valve morphology || abnormal aortic valve morphology || abnormal interventricular septum morphology || abnormal heart right ventricle morphology || abnormal heart left ventricle outflow tract morphology || abnormal heart left ventricle morphology || enlarged mitral valve || ventricular septal defect |
| Eukaryotic proteases | 0.5366 | INHERITED FROM: decreased susceptibility to induced choroidal neovascularization || abnormal choroid vasculature morphology || choroidal neovascularization |
| Reprolysin-like | 0.6221 | INHERITED FROM: abnormal mitral valve morphology || abnormal heart atrium and ventricle connection || abnormal heart valve morphology || abnormal tricuspid valve morphology || abnormal pulmonary valve morphology || abnormal heart ventricle outflow tract morphology || double outlet right ventricle || abnormal aortic valve morphology || enlarged tricuspid valve || abnormal heart right ventricle morphology || abnormal heart and great vessel attachment || enlarged mitral valve |
| Fibronectin type III | 0.6914 | INHERITED FROM: abnormal endocardium morphology || absent organized vascular network |
| Phosphotyrosine-binding domain (PTB) | 0.7707 | INHERITED FROM: abnormal vasodilation |
| Interleukin 8-like chemokines | 0.7782 | INHERITED FROM: altered susceptibility to atherosclerosis || atherosclerotic lesions || decreased susceptibility to atherosclerosis |
| DBL homology domain (DH-domain) | 0.7857 | INHERITED FROM: abnormal vascular endothelial cell migration |
| SH3-domain | 0.7963 | INHERITED FROM: abnormal vascular endothelial cell development |
| C-type lectin domain | 0.9599 | INHERITED FROM: skin hemorrhage |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| Anaphylotoxins (complement system) | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| Peptidylglycine alpha-hydroxylating monooxygenase, PHM | 0 | Direct |
| Transcriptional factor tubby, C-terminal domain | 0 | Direct |
| SMAD MH1 domain | 0 | Direct |
| Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain | 0 | Direct |
| p53 DNA-binding domain-like | 0 | Direct |
| Nitric oxide (NO) synthase oxygenase domain | 0 | Direct |
| Interleukin-1 (IL-1) | 0 | Direct |
| p53 tetramerization domain | 0 | Direct |
| SMAD domain | 0 | Direct |
| N-acetylmuramoyl-L-alanine amidase-like | 0 | Direct |
| Retinoblastoma tumor suppressor domains | 0 | Direct |
| SRF-like | 0 | Direct |
| Cytochrome p450 reductase N-terminal domain-like | 0 | Direct |
| EGF-type module | 0.000001162 | Direct |
| Nuclear receptor | 0.000003142 | Direct |
| Growth factor receptor domain | 0.000004263 | Direct |
| Nuclear receptor ligand-binding domain | 0.00001158 | Direct |
| Protein kinases, catalytic subunit | 0.0004434 | Direct |
| Platelet-derived growth factor-like | 0.0005232 | Direct |
| TB module/8-cys domain | 0.0005232 | Direct |
| Extracellular domain of cell surface receptors | 0.0009735 | Direct |
| GLA-domain | 0.001282 | Inherited |
| L domain | 0.001471 | Inherited |
| VWC domain | 0.003313 | Inherited |
| DIX domain | 0.004061 | Inherited |
| Forkhead DNA-binding domain | 0.004538 | Inherited |
| Integrin beta EGF-like domains | 0.006207 | Inherited |
| Erythroid transcription factor GATA-1 | 0.006207 | Inherited |
| Integrin domains | 0.006701 | Inherited |
| NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.007064 | Inherited |
| Hypoxia-inducible factor Hif2a, C-terminal domain | 0.007064 | Inherited |
| Rel/Dorsal transcription factors, DNA-binding domain | 0.007147 | Inherited |
| Frizzled cysteine-rich domain | 0.01033 | Inherited |
| Notch domain | 0.01084 | Inherited |
| NADPH-cytochrome p450 reductase-like | 0.01084 | Inherited |
| NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.01084 | Inherited |
| T-box | 0.01169 | Inherited |
| Rhodopsin-like | 0.01297 | Inherited |
| Integrin beta tail domain | 0.01483 | Inherited |
| Pointed domain | 0.01483 | Inherited |
| Phoshoinositide 3-kinase (PI3K) helical domain | 0.01483 | Inherited |
| Cell cycle transcription factor e2f-dp | 0.01591 | Inherited |
| LIM domain | 0.01779 | Inherited |
| Ras-binding domain, RBD | 0.02119 | Inherited |
| Spectrin repeat | 0.02119 | Inherited |
| Myosin rod fragments | 0.0221 | Inherited |
| Aromatic aminoacid monoxygenases, catalytic and oligomerization domains | 0.02789 | Inherited |
| Phenylalanine metabolism regulatory domain | 0.02789 | Inherited |
| Matrix metalloproteases, catalytic domain | 0.02926 | Inherited |
| Regulator of G-protein signaling, RGS | 0.02964 | Inherited |
| Histone deacetylase, HDAC | 0.03172 | Inherited |
| Inhibitor of apoptosis (IAP) repeat | 0.03408 | Inherited |
| ZZ domain | 0.03409 | Inherited |
| Transducin (alpha subunit), insertion domain | 0.04039 | Inherited |
| MMP N-terminal domain | 0.05075 | Inherited |
| WW domain | 0.06149 | Inherited |
| Anion transport protein, cytoplasmic domain | 0.06278 | Inherited |
| YWTD domain | 0.07141 | Inherited |
| Kringle modules | 0.07141 | Inherited |
| alpha-catenin/vinculin | 0.07592 | Inherited |
| HMG-box | 0.08968 | Inherited |
| Transforming growth factor (TGF)-beta | 0.105 | Inherited |
| Hemopexin-like domain | 0.1227 | Inherited |
| DEP domain | 0.1446 | Inherited |
| Linker histone H1/H5 | 0.1744 | Inherited |
| Hairy Orange domain | 0.212 | Inherited |
| Cytochrome P450 | 0.2262 | Inherited |
| Adenylyl and guanylyl cyclase catalytic domain | 0.2623 | Inherited |
| Fibroblast growth factors (FGF) | 0.2643 | Inherited |
| ets domain | 0.309 | Inherited |
| HLH, helix-loop-helix DNA-binding domain | 0.3663 | Inherited |
| Toll/Interleukin receptor TIR domain | 0.4101 | Inherited |
| Homeodomain | 0.417 | Inherited |
| Cyclin | 0.419 | Inherited |
| Blood coagulation inhibitor (disintegrin) | 0.419 | Inherited |
| Eukaryotic proteases | 0.5366 | Inherited |
| Reprolysin-like | 0.6221 | Inherited |
| Fibronectin type III | 0.6914 | Inherited |
| Phosphotyrosine-binding domain (PTB) | 0.7707 | Inherited |
| Interleukin 8-like chemokines | 0.7782 | Inherited |
| DBL homology domain (DH-domain) | 0.7857 | Inherited |
| SH3-domain | 0.7963 | Inherited |
| C-type lectin domain | 0.9599 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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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
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
(show details)
(show details)
Supra-domains annotated to this MP term (SPMP 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) |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
57196,50494
57196 - EGF/Laminin
50494 - Trypsin-like serine proteases | 0 | DIRECT |
90193,90193
90193 - Notch domain
90193 - Notch domain | 0 | DIRECT |
49417,47719
49417 - p53-like transcription factors
47719 - p53 tetramerization domain | 0 | DIRECT |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57535,50494
57535 - Complement control module/SCR domain
50494 - Trypsin-like serine proteases | 0 | DIRECT |
49562,51045
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51045 - WW domain | 0 | DIRECT |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0 | DIRECT |
49410,50242
49410 - Alpha-macroglobulin receptor domain
50242 - TIMP-like | 0 | DIRECT |
49742,49742
49742 - PHM/PNGase F
49742 - PHM/PNGase F | 0 | DIRECT |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.00002848 | DIRECT |
57716,48508
57716 - Glucocorticoid receptor-like (DNA-binding domain)
48508 - Nuclear receptor ligand-binding domain | 0.00006475 | DIRECT |
57440,57440
57440 - Kringle-like
57440 - Kringle-like | 0.000404 | DIRECT |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0004678 | DIRECT |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.0004679 | DIRECT |
52058,57184
52058 - L domain-like
57184 - Growth factor receptor domain | 0.001163 | INHERITED FROM: abnormal interventricular septum thickness || abnormal QT interval || abnormal fetal atrioventricular canal morphology || decreased atrioventricular cushion size || abnormal heart morphology || abnormal atrioventricular cushion morphology || heart block || cardiomyopathy || abnormal heartbeat || abnormal cardiovascular system morphology || thin interventricular septum || abnormal myocardium layer morphology || dilated cardiomyopathy || abnormal cardiovascular system physiology || decreased cardiac muscle contractility || abnormal heart electrocardiography waveform feature || prolonged QT interval || thin ventricular wall |
57184,52058
57184 - Growth factor receptor domain
52058 - L domain-like | 0.001163 | INHERITED FROM: abnormal interventricular septum thickness || abnormal QT interval || abnormal fetal atrioventricular canal morphology || decreased atrioventricular cushion size || abnormal heart morphology || abnormal atrioventricular cushion morphology || heart block || cardiomyopathy || abnormal heartbeat || abnormal cardiovascular system morphology || thin interventricular septum || abnormal myocardium layer morphology || dilated cardiomyopathy || abnormal cardiovascular system physiology || decreased cardiac muscle contractility || abnormal heart electrocardiography waveform feature || prolonged QT interval || thin ventricular wall |
55550,50044
55550 - SH2 domain
50044 - SH3-domain | 0.00196 | INHERITED FROM: abnormal vascular endothelial cell development || abnormal blood vessel morphology |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.002338 | INHERITED FROM: abnormal fetal cardiomyocyte morphology || abnormal heart shape || abnormal myocardium layer morphology |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.002964 | INHERITED FROM: abnormal aorta tunica media morphology || aneurysm || abnormal heart right ventricle size || enlarged heart || abnormal aorta morphology || abnormal aorta elastic fiber morphology || abnormal blood vessel elastic tissue morphology |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.003324 | INHERITED FROM: abnormal aorta tunica media morphology || abnormal aorta morphology || abnormal systemic artery morphology || abnormal artery morphology |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.003324 | INHERITED FROM: abnormal aorta tunica media morphology || abnormal aorta morphology || abnormal systemic artery morphology || abnormal artery morphology |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.005009 | INHERITED FROM: cardiac hypertrophy || enlarged heart || cardiac interstitial fibrosis || abnormal heart ventricle wall thickness || abnormal cardiovascular system physiology |
49417,81296
49417 - p53-like transcription factors
81296 - E set domains | 0.005709 | INHERITED FROM: cardiac hypertrophy || abnormal myocardium layer morphology || abnormal cardiovascular system physiology || internal hemorrhage |
53300,69179
53300 - vWA-like
69179 - Integrin domains | 0.01235 | INHERITED FROM: abnormal blood vessel morphology |
57603,57603
57603 - FnI-like domain
57603 - FnI-like domain | 0.01235 | INHERITED FROM: hemorrhage || abnormal blood vessel morphology |
49562,48371
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat | 0.01235 | INHERITED FROM: abnormal heart size |
57196,69687
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0.01235 | INHERITED FROM: abnormal blood vessel morphology |
57424,57184
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0.01235 | INHERITED FROM: abnormal aorta morphology || abnormal systemic artery morphology |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.01308 | INHERITED FROM: abnormal heart left ventricle size || abnormal heart left ventricle morphology || abnormal heart electrocardiography waveform feature || abnormal heart rate |
57424,57424
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0.01769 | INHERITED FROM: aneurysm || abnormal aorta morphology || abnormal systemic artery morphology |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02065 | INHERITED FROM: abnormal systemic arterial blood pressure || decreased systemic arterial blood pressure || abnormal vasoconstriction || abnormal vascular smooth muscle physiology || decreased vasoconstriction |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.02352 | INHERITED FROM: abnormal myocardium layer morphology || abnormal heart layer morphology |
55021,56534
55021 - ACT-like
56534 - Aromatic aminoacid monoxygenases, catalytic and oligomerization domains | 0.02462 | INHERITED FROM: abnormal heartbeat |
57603,82895
57603 - FnI-like domain
82895 - TSP-1 type 1 repeat | 0.02462 | INHERITED FROM: abnormal cardiovascular development |
57184,57603
57184 - Growth factor receptor domain
57603 - FnI-like domain | 0.02462 | INHERITED FROM: abnormal cardiovascular development |
47459,55785
47459 - HLH, helix-loop-helix DNA-binding domain
55785 - PYP-like sensor domain (PAS domain) | 0.02799 | INHERITED FROM: decreased heart rate || abnormal vascular regression || abnormal heart rate |
57440,50494
57440 - Kringle-like
50494 - Trypsin-like serine proteases | 0.02916 | INHERITED FROM: abnormal choroid vasculature morphology || pathological neovascularization || hemorrhage || decreased susceptibility to induced choroidal neovascularization || choroidal neovascularization || internal hemorrhage |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.04172 | INHERITED FROM: decreased angiogenesis || aortic aneurysm || aneurysm || pathological neovascularization || retinal neovascularization || abnormal induced retinal neovascularization |
63825,57196
63825 - YWTD domain
57196 - EGF/Laminin | 0.05432 | INHERITED FROM: abnormal aorta morphology || abnormal systemic artery morphology || abnormal descending aorta morphology |
49785,57184
49785 - Galactose-binding domain-like
57184 - Growth factor receptor domain | 0.05432 | INHERITED FROM: abnormal cardiovascular development || abnormal angiogenesis |
57184,63825
57184 - Growth factor receptor domain
63825 - YWTD domain | 0.06228 | INHERITED FROM: abnormal aorta morphology || abnormal systemic artery morphology |
47220,47220
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like | 0.06228 | INHERITED FROM: dilated heart || cardiomyopathy || dilated cardiomyopathy |
57924,57924
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat | 0.06779 | INHERITED FROM: pericardial effusion || abnormal heart atrium morphology || hemopericardium || abnormal cardiac muscle contractility || hemorrhage || enlarged pericardium || abnormal pericardium morphology || heart hemorrhage || abnormal pericardial cavity morphology || congestive heart failure || internal hemorrhage || decreased cardiac muscle contractility |
47473,57850
47473 - EF-hand
57850 - RING/U-box | 0.06779 | INHERITED FROM: cardiomyopathy || abnormal myocardium layer morphology || abnormal heart layer morphology |
49854,49854
49854 - Spermadhesin, CUB domain
49854 - Spermadhesin, CUB domain | 0.1431 | INHERITED FROM: abnormal dorsal aorta morphology || ventricular septal defect |
49265,49265
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1637 | INHERITED FROM: absent organized vascular network |
47459,158457
47459 - HLH, helix-loop-helix DNA-binding domain
158457 - Orange domain-like | 0.1942 | INHERITED FROM: increased heart ventricle size || abnormal interventricular septum membranous part morphology || abnormal fetal atrioventricular canal morphology || abnormal heart right ventricle morphology || abnormal pulmonary valve morphology || perimembraneous ventricular septal defect || abnormal atrioventricular cushion morphology || abnormal heart valve morphology || abnormal heart right ventricle outflow tract morphology || heart right ventricle outflow tract stenosis || abnormal heart ventricle outflow tract morphology || ventricular septal defect || abnormal semilunar valve morphology || abnormal interventricular septum morphology || thick pulmonary valve || abnormal atrioventricular valve morphology || pulmonary valve stenosis || abnormal cardiac epithelial to mesenchymal transition || abnormal heart atrium and ventricle connection |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0.2318 | INHERITED FROM: abnormal heart septum morphology || abnormal interventricular septum morphology || thin ventricular wall |
81324,81324
81324 - Voltage-gated potassium channels
81324 - Voltage-gated potassium channels | 0.2678 | INHERITED FROM: abnormal systemic arterial blood pressure || hypertension || increased systemic arterial blood pressure |
48726,49265
48726 - Immunoglobulin
49265 - Fibronectin type III | 0.2777 | INHERITED FROM: absent organized vascular network || abnormal heart left atrium morphology |
55785,55785
55785 - PYP-like sensor domain (PAS domain)
55785 - PYP-like sensor domain (PAS domain) | 0.3435 | INHERITED FROM: abnormal heart ventricle pressure |
52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3522 | INHERITED FROM: abnormal inferior vena cava morphology || atrioventricular septal defect |
55486,57552
55486 - Metalloproteases ("zincins"), catalytic domain
57552 - Blood coagulation inhibitor (disintegrin) | 0.3839 | INHERITED FROM: abnormal heart right ventricle morphology || enlarged mitral valve || abnormal pulmonary valve morphology || abnormal aortic valve morphology || abnormal heart left ventricle outflow tract morphology || abnormal heart valve morphology || abnormal heart left ventricle morphology || pathological neovascularization || abnormal heart right ventricle outflow tract morphology || abnormal heart ventricle outflow tract morphology || ventricular septal defect || abnormal tricuspid valve morphology || abnormal semilunar valve morphology || double outlet right ventricle || abnormal interventricular septum morphology || abnormal mitral valve morphology || abnormal atrioventricular valve morphology || abnormal heart atrium and ventricle connection |
50044,55550
50044 - SH3-domain
55550 - SH2 domain | 0.3944 | INHERITED FROM: distended pericardium |
47473,47473
47473 - EF-hand
47473 - EF-hand | 0.5311 | INHERITED FROM: cardiomyopathy |
48065,50729
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like | 0.6888 | INHERITED FROM: abnormal vascular endothelial cell migration |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
57196,50494
57196 - EGF/Laminin
50494 - Trypsin-like serine proteases | 0 | Direct |
90193,90193
90193 - Notch domain
90193 - Notch domain | 0 | Direct |
49417,47719
49417 - p53-like transcription factors
47719 - p53 tetramerization domain | 0 | Direct |
57581,57184
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57535,50494
57535 - Complement control module/SCR domain
50494 - Trypsin-like serine proteases | 0 | Direct |
49562,51045
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51045 - WW domain | 0 | Direct |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0 | Direct |
49410,50242
49410 - Alpha-macroglobulin receptor domain
50242 - TIMP-like | 0 | Direct |
49742,49742
49742 - PHM/PNGase F
49742 - PHM/PNGase F | 0 | Direct |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.00002848 | Direct |
57716,48508
57716 - Glucocorticoid receptor-like (DNA-binding domain)
48508 - Nuclear receptor ligand-binding domain | 0.00006475 | Direct |
57440,57440
57440 - Kringle-like
57440 - Kringle-like | 0.000404 | Direct |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0004678 | Direct |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.0004679 | Direct |
52058,57184
52058 - L domain-like
57184 - Growth factor receptor domain | 0.001163 | Inherited |
57184,52058
57184 - Growth factor receptor domain
52058 - L domain-like | 0.001163 | Inherited |
55550,50044
55550 - SH2 domain
50044 - SH3-domain | 0.00196 | Inherited |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.002338 | Inherited |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.002964 | Inherited |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0.003324 | Inherited |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.003324 | Inherited |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.005009 | Inherited |
49417,81296
49417 - p53-like transcription factors
81296 - E set domains | 0.005709 | Inherited |
53300,69179
53300 - vWA-like
69179 - Integrin domains | 0.01235 | Inherited |
57603,57603
57603 - FnI-like domain
57603 - FnI-like domain | 0.01235 | Inherited |
49562,48371
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat | 0.01235 | Inherited |
57196,69687
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0.01235 | Inherited |
57424,57184
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0.01235 | Inherited |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.01308 | Inherited |
57424,57424
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0.01769 | Inherited |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02065 | Inherited |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.02352 | Inherited |
55021,56534
55021 - ACT-like
56534 - Aromatic aminoacid monoxygenases, catalytic and oligomerization domains | 0.02462 | Inherited |
57603,82895
57603 - FnI-like domain
82895 - TSP-1 type 1 repeat | 0.02462 | Inherited |
57184,57603
57184 - Growth factor receptor domain
57603 - FnI-like domain | 0.02462 | Inherited |
47459,55785
47459 - HLH, helix-loop-helix DNA-binding domain
55785 - PYP-like sensor domain (PAS domain) | 0.02799 | Inherited |
57440,50494
57440 - Kringle-like
50494 - Trypsin-like serine proteases | 0.02916 | Inherited |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.04172 | Inherited |
63825,57196
63825 - YWTD domain
57196 - EGF/Laminin | 0.05432 | Inherited |
49785,57184
49785 - Galactose-binding domain-like
57184 - Growth factor receptor domain | 0.05432 | Inherited |
57184,63825
57184 - Growth factor receptor domain
63825 - YWTD domain | 0.06228 | Inherited |
47220,47220
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like | 0.06228 | Inherited |
57924,57924
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat | 0.06779 | Inherited |
47473,57850
47473 - EF-hand
57850 - RING/U-box | 0.06779 | Inherited |
49854,49854
49854 - Spermadhesin, CUB domain
49854 - Spermadhesin, CUB domain | 0.1431 | Inherited |
49265,49265
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1637 | Inherited |
47459,158457
47459 - HLH, helix-loop-helix DNA-binding domain
158457 - Orange domain-like | 0.1942 | Inherited |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0.2318 | Inherited |
81324,81324
81324 - Voltage-gated potassium channels
81324 - Voltage-gated potassium channels | 0.2678 | Inherited |
48726,49265
48726 - Immunoglobulin
49265 - Fibronectin type III | 0.2777 | Inherited |
55785,55785
55785 - PYP-like sensor domain (PAS domain)
55785 - PYP-like sensor domain (PAS domain) | 0.3435 | Inherited |
52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3522 | Inherited |
55486,57552
55486 - Metalloproteases ("zincins"), catalytic domain
57552 - Blood coagulation inhibitor (disintegrin) | 0.3839 | Inherited |
50044,55550
50044 - SH3-domain
55550 - SH2 domain | 0.3944 | Inherited |
47473,47473
47473 - EF-hand
47473 - EF-hand | 0.5311 | Inherited |
48065,50729
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like | 0.6888 | Inherited |
(show details)
Supra-domains annotated to this MP term (SPMP 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) |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57184,52058,57184
57184 - Growth factor receptor domain
52058 - L domain-like
57184 - Growth factor receptor domain | 0 | DIRECT |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | DIRECT |
57196,90193,90193
57196 - EGF/Laminin
90193 - Notch domain
90193 - Notch domain | 0 | DIRECT |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | DIRECT |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | DIRECT |
52058,57184,52058
52058 - L domain-like
57184 - Growth factor receptor domain
52058 - L domain-like | 0.001163 | INHERITED FROM: abnormal interventricular septum thickness || abnormal QT interval || abnormal fetal atrioventricular canal morphology || decreased atrioventricular cushion size || abnormal heart morphology || abnormal atrioventricular cushion morphology || heart block || cardiomyopathy || abnormal heartbeat || abnormal cardiovascular system morphology || thin interventricular septum || abnormal myocardium layer morphology || dilated cardiomyopathy || abnormal cardiovascular system physiology || decreased cardiac muscle contractility || abnormal heart electrocardiography waveform feature || prolonged QT interval || thin ventricular wall |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.001163 | INHERITED FROM: cardiac hypertrophy || abnormal aorta tunica media morphology || abnormal aorta morphology || abnormal heart morphology || abnormal aorta elastic fiber morphology || abnormal blood vessel elastic tissue morphology || abnormal aorta wall morphology || abnormal artery morphology || increased aorta wall thickness || abnormal blood vessel morphology || abnormal aorta elastic tissue morphology |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.002377 | INHERITED FROM: abnormal aorta tunica media morphology || aneurysm || abnormal heart right ventricle size || abnormal aorta morphology || abnormal aorta elastic fiber morphology || abnormal blood vessel elastic tissue morphology || abnormal cardiovascular system morphology || abnormal angiogenesis || abnormal blood vessel morphology || increased heart right ventricle size |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.002519 | INHERITED FROM: abnormal aorta tunica media morphology || aneurysm || abnormal heart right ventricle size || abnormal aorta morphology || abnormal blood vessel morphology || abnormal pericardial cavity morphology || increased heart right ventricle size || internal hemorrhage |
57603,57603,57603
57603 - FnI-like domain
57603 - FnI-like domain
57603 - FnI-like domain | 0.003324 | INHERITED FROM: hemorrhage || abnormal cardiovascular system morphology || abnormal blood vessel morphology || abnormal cardiovascular system physiology |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.009159 | INHERITED FROM: abnormal aorta tunica media morphology || abnormal aorta morphology || abnormal systemic artery morphology || abnormal artery morphology || abnormal blood vessel morphology |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.009159 | INHERITED FROM: abnormal aorta tunica media morphology || abnormal aorta morphology || abnormal systemic artery morphology || abnormal artery morphology || abnormal blood vessel morphology |
57440,57440,57440
57440 - Kringle-like
57440 - Kringle-like
57440 - Kringle-like | 0.009159 | INHERITED FROM: decreased angiogenesis || abnormal choroid vasculature morphology || pathological neovascularization || decreased susceptibility to induced choroidal neovascularization || abnormal angiogenesis || abnormal blood vessel morphology || choroidal neovascularization |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.009159 | INHERITED FROM: abnormal aorta morphology || abnormal systemic artery morphology || abnormal artery morphology |
57440,57440,50494
57440 - Kringle-like
57440 - Kringle-like
50494 - Trypsin-like serine proteases | 0.009159 | INHERITED FROM: abnormal blood circulation || hemorrhage || abnormal blood vessel morphology || internal hemorrhage |
57424,57424,57424
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0.01033 | INHERITED FROM: aneurysm || abnormal aorta morphology || abnormal systemic artery 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) | 0.01076 | INHERITED FROM: dilated heart left ventricle || dilated heart ventricle || abnormal heart left ventricle morphology || vasculature congestion || visceral vascular congestion || decreased cardiac muscle contractility |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.01153 | INHERITED FROM: pericardial effusion || abnormal myocardial trabeculae morphology || arteriovenous malformation || abnormal aorta morphology || abnormal blood circulation || vascular stenosis || abnormal blood vessel morphology || aorta stenosis || abnormal direction of heart looping |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.01153 | INHERITED FROM: abnormal myocardium layer morphology |
57196,57196,69687
57196 - EGF/Laminin
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0.01235 | INHERITED FROM: abnormal blood vessel morphology |
49562,48371,56112
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.01235 | INHERITED FROM: abnormal heart size |
57184,57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.01235 | INHERITED FROM: abnormal aorta morphology || abnormal heart septum morphology || abnormal systemic artery morphology || abnormal blood vessel morphology || abnormal interventricular septum morphology || abnormal heart ventricle morphology |
47220,47220,47220
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like | 0.02958 | INHERITED FROM: dilated heart || cardiomyopathy || dilated cardiomyopathy |
57424,57184,63825
57424 - LDL receptor-like module
57184 - Growth factor receptor domain
63825 - YWTD domain | 0.02958 | INHERITED FROM: abnormal blood vessel physiology || abnormal aorta morphology || abnormal systemic artery morphology |
57424,57424,57184
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0.02958 | INHERITED FROM: abnormal blood vessel physiology || abnormal aorta morphology || abnormal systemic artery morphology |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.06326 | INHERITED FROM: abnormal blood vessel morphology || abnormal direction of heart looping |
57924,57924,57924
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat | 0.06779 | INHERITED FROM: pericardial effusion || abnormal heart atrium morphology || hemopericardium || abnormal cardiac muscle contractility || hemorrhage || enlarged pericardium || abnormal pericardium morphology || heart hemorrhage || abnormal pericardial cavity morphology || congestive heart failure || internal hemorrhage || decreased cardiac muscle contractility |
47473,47473,57850
47473 - EF-hand
47473 - EF-hand
57850 - RING/U-box | 0.06779 | INHERITED FROM: cardiomyopathy || abnormal myocardium layer morphology || abnormal heart layer morphology |
48726,49265,49265
48726 - Immunoglobulin
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1054 | INHERITED FROM: abnormal myocardial trabeculae morphology || absent organized vascular network |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1056 | INHERITED FROM: abnormal vena cava morphology || abnormal aorta morphology || abnormal atrioventricular septum morphology || abnormal systemic artery morphology || abnormal vein morphology || abnormal inferior vena cava morphology || atrioventricular septal defect |
63825,57196,63825
63825 - YWTD domain
57196 - EGF/Laminin
63825 - YWTD domain | 0.1261 | INHERITED FROM: abnormal aorta morphology || abnormal systemic artery morphology |
47459,55785,55785
47459 - HLH, helix-loop-helix DNA-binding domain
55785 - PYP-like sensor domain (PAS domain)
55785 - PYP-like sensor domain (PAS domain) | 0.2678 | INHERITED FROM: abnormal heart ventricle pressure |
48726,48726,49265
48726 - Immunoglobulin
48726 - Immunoglobulin
49265 - Fibronectin type III | 0.4683 | INHERITED FROM: heart left ventricle hypertrophy |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57184,52058,57184
57184 - Growth factor receptor domain
52058 - L domain-like
57184 - Growth factor receptor domain | 0 | Direct |
57581,57184,57581
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain | 0 | Direct |
57196,90193,90193
57196 - EGF/Laminin
90193 - Notch domain
90193 - Notch domain | 0 | Direct |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | Direct |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | Direct |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | Direct |
52058,57184,52058
52058 - L domain-like
57184 - Growth factor receptor domain
52058 - L domain-like | 0.001163 | Inherited |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.001163 | Inherited |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.002377 | Inherited |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.002519 | Inherited |
57603,57603,57603
57603 - FnI-like domain
57603 - FnI-like domain
57603 - FnI-like domain | 0.003324 | Inherited |
57581,57196,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.009159 | Inherited |
57196,57196,57581
57196 - EGF/Laminin
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.009159 | Inherited |
57440,57440,57440
57440 - Kringle-like
57440 - Kringle-like
57440 - Kringle-like | 0.009159 | Inherited |
57581,57196,57581
57581 - TB module/8-cys domain
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0.009159 | Inherited |
57440,57440,50494
57440 - Kringle-like
57440 - Kringle-like
50494 - Trypsin-like serine proteases | 0.009159 | Inherited |
57424,57424,57424
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0.01033 | 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) | 0.01076 | Inherited |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.01153 | Inherited |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.01153 | Inherited |
57196,57196,69687
57196 - EGF/Laminin
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0.01235 | Inherited |
49562,48371,56112
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48371 - ARM repeat
56112 - Protein kinase-like (PK-like) | 0.01235 | Inherited |
57184,57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.01235 | Inherited |
47220,47220,47220
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like
47220 - alpha-catenin/vinculin-like | 0.02958 | Inherited |
57424,57184,63825
57424 - LDL receptor-like module
57184 - Growth factor receptor domain
63825 - YWTD domain | 0.02958 | Inherited |
57424,57424,57184
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0.02958 | Inherited |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.06326 | Inherited |
57924,57924,57924
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat
57924 - Inhibitor of apoptosis (IAP) repeat | 0.06779 | Inherited |
47473,47473,57850
47473 - EF-hand
47473 - EF-hand
57850 - RING/U-box | 0.06779 | Inherited |
48726,49265,49265
48726 - Immunoglobulin
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1054 | 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 | 0.1056 | Inherited |
63825,57196,63825
63825 - YWTD domain
57196 - EGF/Laminin
63825 - YWTD domain | 0.1261 | Inherited |
47459,55785,55785
47459 - HLH, helix-loop-helix DNA-binding domain
55785 - PYP-like sensor domain (PAS domain)
55785 - PYP-like sensor domain (PAS domain) | 0.2678 | Inherited |
48726,48726,49265
48726 - Immunoglobulin
48726 - Immunoglobulin
49265 - Fibronectin type III | 0.4683 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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A presence/absence matrix is generated using protein domains and supradomains
for all genomes in SUPERFAMILY. The RAxML
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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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