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Phenotypic Abnormality (PA): Abnormality of the integument
(show info)
Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Family domains annotated to this HP term (SDHP level: Least Informative)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | DIRECT |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| Proteasome subunits | 0 | DIRECT |
| Gonadodropin/Follitropin | 0 | DIRECT |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
| Lamin A/C globular tail domain | 0 | DIRECT |
| Apolipoprotein A-I | 0 | DIRECT |
| Integrin beta EGF-like domains | 0 | DIRECT |
| SWIRM domain | 0 | DIRECT |
| beta-glycanases | 0 | DIRECT |
| ets domain | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| Caspase catalytic domain | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
| Histone deacetylase, HDAC | 0 | DIRECT |
| Erythroid transcription factor GATA-1 | 0 | DIRECT |
| Plakin repeat | 0 | DIRECT |
| Exostosin | 0 | DIRECT |
| Ferredoxin reductase FAD-binding domain-like | 0 | DIRECT |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | DIRECT |
| JAB1/MPN domain | 0 | DIRECT |
| Integrin beta tail domain | 0 | DIRECT |
| ABC transporter ATPase domain-like | 0.002701 | INHERITED FROM: Curly eyelashes || Congenital, generalized hypertrichosis |
| Integrin A (or I) domain | 0.005335 | INHERITED FROM: Follicular hyperkeratosis || Abnormality of the skin || Abnormality of skin morphology |
| C1 set domains (antibody constant domain-like) | 0.006884 | INHERITED FROM: Alopecia || Abnormality of skin physiology || Skin ulcer |
| Actin/HSP70 | 0.01218 | INHERITED FROM: Highly arched eyebrow |
| Intermediate filament protein, coiled coil region | 0.01807 | INHERITED FROM: Abnormality of epidermal morphology || Hypohidrosis or hyperhidrosis || Abnormal blistering of the skin || Verrucae || Abnormal perifollicular morphology || Epidermal thickening || Plantar hyperkeratosis || Cutaneous cyst || Abnormality of skin adnexa physiology || Hyperkeratosis || Abnormality of the plantar skin of foot || Neoplasm of the skin || Erythema || Abnormality of the nail || Onychogryposis || Palmar hyperkeratosis || Keratosis pilaris || Congenital bullous ichthyosiform erythroderma || Nail dystrophy || Thickened skin || Reticulated skin pigmentation || Epidermoid cyst || Abnormality of hair growth || Squamous cell carcinoma of the skin || Skin plaque || Slow-growing hair |
| MHC antigen-recognition domain | 0.02801 | INHERITED FROM: Psoriasiform dermatitis || Alopecia || Abnormality of skin physiology || Skin ulcer |
| GLA-domain | 0.03431 | INHERITED FROM: Aplasia/Hypoplasia of the skin |
| SH2 domain | 0.04354 | INHERITED FROM: Recurrent skin infections |
| Histone lysine methyltransferases | 0.04375 | INHERITED FROM: Abnormality of skin adnexa morphology || Regional abnormality of skin || Congenital abnormal hair pattern || Abnormality of the frontal hairline || Abnormality of the hairline || Abnormal hair morphology |
| Spectrin repeat | 0.04411 | INHERITED FROM: Epidermal thickening |
| Globins | 0.05646 | INHERITED FROM: Pallor |
| DnaQ-like 3'-5' exonuclease | 0.05646 | INHERITED FROM: Telangiectasia |
| Integrin domains | 0.06718 | INHERITED FROM: Petechiae || Ecchymosis || Purpura || Macular purpura || Spontaneous hematomas |
| DNA gyrase/MutL, second domain | 0.09177 | INHERITED FROM: Basal cell carcinoma || Neoplasm of the skin |
| DNA gyrase/MutL, N-terminal domain | 0.09177 | INHERITED FROM: Basal cell carcinoma || Neoplasm of the skin |
| Pyrin domain, PYD | 0.09177 | INHERITED FROM: Skin rash |
| Tyrosine-dependent oxidoreductases | 0.09588 | INHERITED FROM: Palmoplantar hyperkeratosis |
| TNF receptor-like | 0.09639 | INHERITED FROM: Subcutaneous nodule |
| PHD domain | 0.09697 | INHERITED FROM: Abnormal dermatoglyphics || Periauricular skin pits || Preauricular pit |
| G proteins | 0.09936 | INHERITED FROM: Nevus sebaceous |
| Bromodomain | 0.1086 | INHERITED FROM: Abnormal dermatoglyphics || Long eyelashes || Sacral dimple || Thick eyebrow || Single transverse palmar crease || Low anterior hairline || Abnormal hair quantity |
| HMG-box | 0.1113 | INHERITED FROM: Hypoplastic fifth toenail || Cutis marmorata || Hypoplastic fingernail || Hypoplastic fifth fingernail || Slow-growing hair |
| Hect, E3 ligase catalytic domain | 0.1371 | INHERITED FROM: Sparse eyebrow |
| C-terminal, gelsolin-like domain of Sec23/24 | 0.1477 | INHERITED FROM: Abnormality of skin pigmentation |
| DNA repair protein MutS, domain III | 0.1477 | INHERITED FROM: Neoplasm of the skin |
| Helical domain of Sec23/24 | 0.1477 | INHERITED FROM: Abnormality of skin pigmentation |
| BRK domain-like | 0.1477 | INHERITED FROM: Abnormality of hair density || Sparse hair |
| beta-sandwich domain of Sec23/24 | 0.1477 | INHERITED FROM: Abnormality of skin pigmentation |
| Trunk domain of Sec23/24 | 0.1477 | INHERITED FROM: Abnormality of skin pigmentation |
| VWC domain | 0.1489 | INHERITED FROM: Thin skin || Dermal atrophy || Subcutaneous nodule || Atrophic scars || Abnormally lax or hyperextensible skin || Bruising susceptibility |
| DEATH domain, DD | 0.194 | INHERITED FROM: Subcutaneous hemorrhage || Abnormality of skin physiology |
| Complement control module/SCR domain | 0.2025 | INHERITED FROM: Poor wound healing |
| EGF-type module | 0.214 | INHERITED FROM: Abnormally lax or hyperextensible skin |
| ARID domain | 0.2184 | INHERITED FROM: Small nail || Abnormal dermatoglyphics || Abnormal fingernail morphology || Hypoplastic fifth toenail || Generalized hirsutism || Cutis marmorata || Long eyelashes || Aplastic/hypoplastic toenail || Hypoplastic toenails || Abnormal toenail morphology || Aplasia/Hypoplasia of the nails || Hypoplastic fingernail || Thick eyebrow || Abnormality of the palmar creases || Single transverse palmar crease || Bilateral single transverse palmar creases || Abnormal palmar dermatoglyphics || Abnormality of hair growth || Hypoplastic fifth fingernail || Slow-growing hair |
| Ras-binding domain, RBD | 0.2184 | INHERITED FROM: Nevus || Melanocytic nevus || Palmoplantar keratoderma || Cafe-au-lait spot || Skin nodule || Subcutaneous nodule || Irregular hyperpigmentation || Hyperpigmentation of the skin || Macule || Hypermelanotic macule |
| Laminin-type module | 0.2533 | INHERITED FROM: Palmar hyperhidrosis || Squamous cell carcinoma || Milia || Abnormality of the periungual region || Oral mucosal blisters || Palmoplantar keratoderma || Fragile nails || Dermal atrophy || Paronychia || Onycholysis || Anonychia || Congenital localized absence of skin || Aplasia cutis congenita || Sparse body hair || Scarring alopecia of scalp || Alopecia of scalp || Junctional split || Skin erosion || Atypical scarring of skin || Squamous cell carcinoma of the skin |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.2655 | INHERITED FROM: Cafe-au-lait spot || Telangiectasia |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.3126 | INHERITED FROM: Pterygium || Multiple pterygia |
| Nicotinic receptor ligand binding domain-like | 0.3126 | INHERITED FROM: Pterygium || Multiple pterygia |
| TBP-associated factors, TAFs | 0.3159 | INHERITED FROM: Congenital abnormal hair pattern || Abnormality of the scalp hair || Abnormality of the hairline || Abnormal hair pattern |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.362 | INHERITED FROM: Bruising susceptibility |
| NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.481 | INHERITED FROM: Alopecia |
| RecA protein-like (ATPase-domain) | 0.5142 | INHERITED FROM: Multiple cafe-au-lait spots || Hyperpigmentation of the skin |
| Ngr ectodomain-like | 0.6303 | INHERITED FROM: Spontaneous hematomas |
| Extended AAA-ATPase domain | 0.8882 | INHERITED FROM: Abnormal hair laboratory examination || Pili torti |
| V set domains (antibody variable domain-like) | 0.9558 | INHERITED FROM: Skin plaque |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | Direct |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| Proteasome subunits | 0 | Direct |
| Gonadodropin/Follitropin | 0 | Direct |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
| Lamin A/C globular tail domain | 0 | Direct |
| Apolipoprotein A-I | 0 | Direct |
| Integrin beta EGF-like domains | 0 | Direct |
| SWIRM domain | 0 | Direct |
| beta-glycanases | 0 | Direct |
| ets domain | 0 | Direct |
| Notch domain | 0 | Direct |
| Caspase catalytic domain | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| XPF/Rad1/Mus81 nuclease | 0 | Direct |
| Histone deacetylase, HDAC | 0 | Direct |
| Erythroid transcription factor GATA-1 | 0 | Direct |
| Plakin repeat | 0 | Direct |
| Exostosin | 0 | Direct |
| Ferredoxin reductase FAD-binding domain-like | 0 | Direct |
| Dimeric isocitrate & isopropylmalate dehydrogenases | 0 | Direct |
| JAB1/MPN domain | 0 | Direct |
| Integrin beta tail domain | 0 | Direct |
| ABC transporter ATPase domain-like | 0.002701 | Inherited |
| Integrin A (or I) domain | 0.005335 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.006884 | Inherited |
| Actin/HSP70 | 0.01218 | Inherited |
| Intermediate filament protein, coiled coil region | 0.01807 | Inherited |
| MHC antigen-recognition domain | 0.02801 | Inherited |
| GLA-domain | 0.03431 | Inherited |
| SH2 domain | 0.04354 | Inherited |
| Histone lysine methyltransferases | 0.04375 | Inherited |
| Spectrin repeat | 0.04411 | Inherited |
| Globins | 0.05646 | Inherited |
| DnaQ-like 3'-5' exonuclease | 0.05646 | Inherited |
| Integrin domains | 0.06718 | Inherited |
| DNA gyrase/MutL, second domain | 0.09177 | Inherited |
| DNA gyrase/MutL, N-terminal domain | 0.09177 | Inherited |
| Pyrin domain, PYD | 0.09177 | Inherited |
| Tyrosine-dependent oxidoreductases | 0.09588 | Inherited |
| TNF receptor-like | 0.09639 | Inherited |
| PHD domain | 0.09697 | Inherited |
| G proteins | 0.09936 | Inherited |
| Bromodomain | 0.1086 | Inherited |
| HMG-box | 0.1113 | Inherited |
| Hect, E3 ligase catalytic domain | 0.1371 | Inherited |
| C-terminal, gelsolin-like domain of Sec23/24 | 0.1477 | Inherited |
| DNA repair protein MutS, domain III | 0.1477 | Inherited |
| Helical domain of Sec23/24 | 0.1477 | Inherited |
| BRK domain-like | 0.1477 | Inherited |
| beta-sandwich domain of Sec23/24 | 0.1477 | Inherited |
| Trunk domain of Sec23/24 | 0.1477 | Inherited |
| VWC domain | 0.1489 | Inherited |
| DEATH domain, DD | 0.194 | Inherited |
| Complement control module/SCR domain | 0.2025 | Inherited |
| EGF-type module | 0.214 | Inherited |
| ARID domain | 0.2184 | Inherited |
| Ras-binding domain, RBD | 0.2184 | Inherited |
| Laminin-type module | 0.2533 | Inherited |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.2655 | Inherited |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.3126 | Inherited |
| Nicotinic receptor ligand binding domain-like | 0.3126 | Inherited |
| TBP-associated factors, TAFs | 0.3159 | Inherited |
| Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain) | 0.362 | Inherited |
| NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.481 | Inherited |
| RecA protein-like (ATPase-domain) | 0.5142 | Inherited |
| Ngr ectodomain-like | 0.6303 | Inherited |
| Extended AAA-ATPase domain | 0.8882 | Inherited |
| V set domains (antibody variable domain-like) | 0.9558 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Trees by TreeVector
A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
(show details)
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399
75399 - Plakin repeat
75399 - Plakin repeat | 0 | DIRECT |
53098,56672
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases | 0 | DIRECT |
52980,47781
52980 - Restriction endonuclease-like
47781 - RuvA domain 2-like | 0 | DIRECT |
57424,50494
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | DIRECT |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | DIRECT |
103473,100895
103473 - MFS general substrate transporter
100895 - Kazal-type serine protease inhibitors | 0 | DIRECT |
49265,53300
49265 - Fibronectin type III
53300 - vWA-like | 0 | DIRECT |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | DIRECT |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | DIRECT |
57196,69687
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0 | DIRECT |
55550,55550
55550 - SH2 domain
55550 - SH2 domain | 0 | DIRECT |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | DIRECT |
53300,49265
53300 - vWA-like
49265 - Fibronectin type III | 0 | DIRECT |
63380,52343
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | DIRECT |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
53300,69179
53300 - vWA-like
69179 - Integrin domains | 0 | DIRECT |
50729,47473
50729 - PH domain-like
47473 - EF-hand | 0 | DIRECT |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
46579,64593
46579 - Prefoldin
64593 - Intermediate filament protein, coiled coil region | 0 | DIRECT |
90123,52540
90123 - ABC transporter transmembrane region
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.01807 | INHERITED FROM: Jaundice |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.02555 | INHERITED FROM: Psoriasiform dermatitis || Alopecia || Abnormality of skin physiology || Skin ulcer |
64593,64593
64593 - Intermediate filament protein, coiled coil region
64593 - Intermediate filament protein, coiled coil region | 0.02555 | INHERITED FROM: Abnormal blistering of the skin || Epidermal thickening || Abnormality of the plantar skin of foot || Palmoplantar keratoderma || Hypohidrosis or hyperhidrosis || Hyperkeratosis || Nail dystrophy || Hyperhidrosis || Onychogryposis |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.03985 | INHERITED FROM: Subcutaneous nodule |
57903,57903
57903 - FYVE/PHD zinc finger
57903 - FYVE/PHD zinc finger | 0.05264 | INHERITED FROM: Abnormal dermatoglyphics || Hirsutism || Long eyelashes |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.07597 | INHERITED FROM: Periauricular skin pits || Preauricular pit |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.08642 | INHERITED FROM: Follicular hyperkeratosis || Hypohidrosis or hyperhidrosis || Hyperkeratosis || Hyperhidrosis || Abnormality of skin adnexa physiology |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.08642 | INHERITED FROM: Basal cell carcinoma || Neoplasm of the skin |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.08642 | INHERITED FROM: Skin rash || Papule || Abnormality of skin physiology || Vascular skin abnormality || Inflammatory abnormality of the skin |
49265,49265
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1271 | INHERITED FROM: Skin nodule |
81811,82754
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0.1417 | INHERITED FROM: Abnormality of skin pigmentation |
48334,52540
48334 - DNA repair protein MutS, domain III
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1417 | INHERITED FROM: Neoplasm of the skin |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1814 | INHERITED FROM: Localized skin lesion |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.2206 | INHERITED FROM: Vascular skin abnormality || Poor wound healing |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2534 | INHERITED FROM: Plantar hyperkeratosis || Squamous cell carcinoma of the skin || Aplasia cutis congenita || Skin erosion || Milia || Scarring alopecia of scalp || Paronychia || Abnormality of the periungual region || Palmar hyperhidrosis || Junctional split || Oral mucosal blisters || Congenital localized absence of skin |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.295 | INHERITED FROM: Pterygium || Multiple pterygia |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.3118 | INHERITED FROM: Cutis laxa |
| 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 |
52980,47781
52980 - Restriction endonuclease-like
47781 - RuvA domain 2-like | 0 | Direct |
57424,50494
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | Direct |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | Direct |
103473,100895
103473 - MFS general substrate transporter
100895 - Kazal-type serine protease inhibitors | 0 | Direct |
49265,53300
49265 - Fibronectin type III
53300 - vWA-like | 0 | Direct |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | Direct |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
52096,52096
52096 - ClpP/crotonase
52096 - ClpP/crotonase | 0 | Direct |
57196,69687
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0 | Direct |
55550,55550
55550 - SH2 domain
55550 - SH2 domain | 0 | Direct |
49562,48350
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
48350 - GTPase activation domain, GAP | 0 | Direct |
53300,49265
53300 - vWA-like
49265 - Fibronectin type III | 0 | Direct |
63380,52343
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain | 0 | Direct |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0 | Direct |
53300,69179
53300 - vWA-like
69179 - Integrin domains | 0 | Direct |
50729,47473
50729 - PH domain-like
47473 - EF-hand | 0 | Direct |
57184,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
46579,64593
46579 - Prefoldin
64593 - Intermediate filament protein, coiled coil region | 0 | Direct |
90123,52540
90123 - ABC transporter transmembrane region
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.01807 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.02555 | Inherited |
64593,64593
64593 - Intermediate filament protein, coiled coil region
64593 - Intermediate filament protein, coiled coil region | 0.02555 | Inherited |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.03985 | Inherited |
57903,57903
57903 - FYVE/PHD zinc finger
57903 - FYVE/PHD zinc finger | 0.05264 | Inherited |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.07597 | Inherited |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.08642 | Inherited |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.08642 | Inherited |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.08642 | Inherited |
49265,49265
49265 - Fibronectin type III
49265 - Fibronectin type III | 0.1271 | Inherited |
81811,82754
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0.1417 | Inherited |
48334,52540
48334 - DNA repair protein MutS, domain III
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1417 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1814 | Inherited |
57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.2206 | Inherited |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2534 | Inherited |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.295 | Inherited |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.3118 | 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) |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0 | DIRECT |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | DIRECT |
49899,57196,49899
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57424,57424,50494
57424 - LDL receptor-like module
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | DIRECT |
57424,57184,63825
57424 - LDL receptor-like module
57184 - Growth factor receptor domain
63825 - YWTD domain | 0 | DIRECT |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
49265,49265,53300
49265 - Fibronectin type III
49265 - Fibronectin type III
53300 - vWA-like | 0 | DIRECT |
57424,57424,57184
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57196,69687
57196 - EGF/Laminin
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0 | DIRECT |
57184,49899,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02555 | INHERITED FROM: Localized skin lesion |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.1289 | INHERITED FROM: Purpura || Generalized abnormality of skin || Poor wound healing |
49899,49899,49899
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0.2537 | INHERITED FROM: Atypical scarring of skin |
57716,57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.2537 | INHERITED FROM: Palmoplantar keratoderma |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.4534 | INHERITED FROM: Squamous cell carcinoma of the skin || Aplasia cutis congenita || Skin erosion || Milia || Paronychia || Abnormality of the periungual region || Palmar hyperhidrosis || Junctional split || Oral mucosal blisters || Congenital localized absence of skin || Onycholysis |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57586,57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like
57586 - TNF receptor-like | 0 | Direct |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | Direct |
49899,57196,49899
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57424,57424,50494
57424 - LDL receptor-like module
57424 - LDL receptor-like module
50494 - Trypsin-like serine proteases | 0 | Direct |
57424,57184,63825
57424 - LDL receptor-like module
57184 - Growth factor receptor domain
63825 - YWTD domain | 0 | Direct |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
49265,49265,53300
49265 - Fibronectin type III
49265 - Fibronectin type III
53300 - vWA-like | 0 | Direct |
57424,57424,57184
57424 - LDL receptor-like module
57424 - LDL receptor-like module
57184 - Growth factor receptor domain | 0 | Direct |
57196,57196,69687
57196 - EGF/Laminin
57196 - EGF/Laminin
69687 - Integrin beta tail domain | 0 | Direct |
57184,49899,49899
57184 - Growth factor receptor domain
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02555 | Inherited |
57535,57535,57535
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain
57535 - Complement control module/SCR domain | 0.1289 | Inherited |
49899,49899,49899
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases
49899 - Concanavalin A-like lectins/glucanases | 0.2537 | 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) | 0.2537 | Inherited |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.4534 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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Trees by TreeVector
A presence/absence matrix is generated using protein domains and supradomains
for all genomes in SUPERFAMILY. The RAxML
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
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