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Phenotypic Abnormality (PA): Abnormality of the face
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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: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Superfamily domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Trees by TreeVector
A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
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Supra-domains annotated to this HP term (SPHO level: Least Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | DIRECT |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 0 | DIRECT |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | DIRECT |
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like | 0 | DIRECT |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0 | DIRECT |
57889,48350 57889 - Cysteine-rich domain 48350 - GTPase activation domain, GAP | 0 | DIRECT |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | DIRECT |
64268,50044 64268 - PX domain 50044 - SH3-domain | 0 | DIRECT |
47954,47954 47954 - Cyclin-like 47954 - Cyclin-like | 0 | DIRECT |
57196,69687 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0 | DIRECT |
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | DIRECT |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0 | DIRECT |
141072,141072 141072 - CalX-like 141072 - CalX-like | 0 | DIRECT |
63380,52343 63380 - Riboflavin synthase domain-like 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | DIRECT |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | DIRECT |
-7,56112 -7 - CATH 56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0 | DIRECT |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
54928,90209 54928 - RNA-binding domain, RBD 90209 - Ran binding protein zinc finger-like | 0 | DIRECT |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | DIRECT |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
53067,53067 53067 - Actin-like ATPase domain 53067 - Actin-like ATPase domain | 0.01693 | INHERITED FROM: Prominent metopic ridge |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.05272 | INHERITED FROM: Abnormality of the sense of smell || Hyposmia || Hypomimic face |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.08391 | INHERITED FROM: Stomatitis |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.08391 | INHERITED FROM: Stomatitis |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.08391 | INHERITED FROM: Stomatitis |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.128 | INHERITED FROM: Round face || Facial palsy || Weakness of facial musculature || Abnormality of facial musculature |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.128 | INHERITED FROM: Abnormal conjunctiva morphology || Stomatitis || Conjunctivitis || Aphthous ulcer || Recurrent aphthous stomatitis || Abnormal oral mucosa morphology |
90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments | 0.1504 | INHERITED FROM: Decreased facial expression |
117281,117281 117281 - Kelch motif 117281 - Kelch motif | 0.1919 | INHERITED FROM: Midface retrusion |
50729,56112 50729 - PH domain-like 56112 - Protein kinase-like (PK-like) | 0.1919 | INHERITED FROM: Depressed nasal bridge |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.2725 | INHERITED FROM: Abnormality of the sense of smell |
50978,50978 50978 - WD40 repeat-like 50978 - WD40 repeat-like | 0.2725 | INHERITED FROM: Widely spaced teeth |
55486,82895 55486 - Metalloproteases ("zincins"), catalytic domain 82895 - TSP-1 type 1 repeat | 0.2878 | INHERITED FROM: Abnormality of dental morphology |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.3238 | INHERITED FROM: White lesion of the oral mucosa |
57586,57586 57586 - TNF receptor-like 57586 - TNF receptor-like | 0.4061 | INHERITED FROM: Conjunctivitis |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.4323 | INHERITED FROM: Abnormal nasolacrimal system morphology || Abnormal parotid gland morphology |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.5733 | INHERITED FROM: Periauricular skin pits || Preauricular pit |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.588 | INHERITED FROM: Ankyloglossia || Abnormality of dental enamel || Oral mucosal blisters |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.6235 | INHERITED FROM: Abnormality of jaw muscles |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.6288 | INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.6712 | INHERITED FROM: Xerostomia |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.6712 | INHERITED FROM: Abnormality of lower lip |
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0.7664 | INHERITED FROM: Abnormality of mouth shape |
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 |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 0 | Direct |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | Direct |
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like | 0 | Direct |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0 | Direct |
57889,48350 57889 - Cysteine-rich domain 48350 - GTPase activation domain, GAP | 0 | Direct |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | Direct |
64268,50044 64268 - PX domain 50044 - SH3-domain | 0 | Direct |
47954,47954 47954 - Cyclin-like 47954 - Cyclin-like | 0 | Direct |
57196,69687 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0 | Direct |
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | Direct |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0 | Direct |
141072,141072 141072 - CalX-like 141072 - CalX-like | 0 | Direct |
63380,52343 63380 - Riboflavin synthase domain-like 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | Direct |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | Direct |
-7,56112 -7 - CATH 56112 - Protein kinase-like (PK-like) | 0 | Direct |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0 | Direct |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
54928,90209 54928 - RNA-binding domain, RBD 90209 - Ran binding protein zinc finger-like | 0 | Direct |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | Direct |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
53067,53067 53067 - Actin-like ATPase domain 53067 - Actin-like ATPase domain | 0.01693 | Inherited |
48371,48371 48371 - ARM repeat 48371 - ARM repeat | 0.05272 | Inherited |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.08391 | Inherited |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.08391 | Inherited |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.08391 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.128 | Inherited |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.128 | Inherited |
90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments | 0.1504 | Inherited |
117281,117281 117281 - Kelch motif 117281 - Kelch motif | 0.1919 | Inherited |
50729,56112 50729 - PH domain-like 56112 - Protein kinase-like (PK-like) | 0.1919 | Inherited |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.2725 | Inherited |
50978,50978 50978 - WD40 repeat-like 50978 - WD40 repeat-like | 0.2725 | Inherited |
55486,82895 55486 - Metalloproteases ("zincins"), catalytic domain 82895 - TSP-1 type 1 repeat | 0.2878 | Inherited |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.3238 | Inherited |
57586,57586 57586 - TNF receptor-like 57586 - TNF receptor-like | 0.4061 | Inherited |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.4323 | Inherited |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.5733 | Inherited |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.588 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.6235 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.6288 | Inherited |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.6712 | Inherited |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.6712 | Inherited |
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0.7664 | Inherited |
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | DIRECT |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | DIRECT |
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | DIRECT |
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 |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0 | DIRECT |
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain | 0 | DIRECT |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0 | DIRECT |
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 0 | DIRECT |
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 |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 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 |
57196,57196,69687 57196 - EGF/Laminin 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0 | DIRECT |
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.03602 | INHERITED FROM: Nasal polyposis || Rhinitis || Halitosis || Abnormality of the nasal mucosa |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.08391 | INHERITED FROM: Stomatitis |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.08391 | INHERITED FROM: Stomatitis |
57667,57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.184 | INHERITED FROM: Periorbital fullness |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3551 | INHERITED FROM: Nasolacrimal duct obstruction || Abnormal nasolacrimal system morphology || Abnormal parotid gland morphology |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.6712 | INHERITED FROM: Abnormality of the cheek |
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0.7664 | INHERITED FROM: Abnormality of mouth shape |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.9147 | INHERITED FROM: Ankyloglossia || Oral mucosal blisters || Abnormal oral frenulum morphology |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | Direct |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | Direct |
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | Direct |
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 |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0 | Direct |
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain | 0 | Direct |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0 | Direct |
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 0 | Direct |
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 |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 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 |
57196,57196,69687 57196 - EGF/Laminin 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0 | Direct |
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.03602 | Inherited |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.08391 | Inherited |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.08391 | Inherited |
57667,57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.184 | Inherited |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3551 | Inherited |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.6712 | Inherited |
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0.7664 | Inherited |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.9147 | 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
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.
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