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Phenotypic Abnormality (PA): Abnormality of head or neck
(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)
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)
Family domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | DIRECT |
| Zn-finger domain of Sec23/24 | 0 | DIRECT |
| CalX-beta domain | 0 | DIRECT |
| Proteasome subunits | 0 | DIRECT |
| Double-stranded RNA-binding domain (dsRBD) | 0 | DIRECT |
| Ferredoxin domains from multidomain proteins | 0 | DIRECT |
| Armadillo repeat | 0 | DIRECT |
| Protein serine/threonine phosphatase | 0 | DIRECT |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
| L27 domain | 0 | DIRECT |
| Helical domain of Sec23/24 | 0 | DIRECT |
| BEACH domain | 0 | DIRECT |
| N-acetyl transferase, NAT | 0 | DIRECT |
| Serum paraoxonase/arylesterase 1, PON1 | 0 | DIRECT |
| Interleukin-1 (IL-1) | 0 | DIRECT |
| Clathrin adaptor core protein | 0 | DIRECT |
| Glycosyl transferases group 1 | 0 | DIRECT |
| Cytochrome b5 | 0 | DIRECT |
| Integrin beta EGF-like domains | 0 | DIRECT |
| BRK domain-like | 0 | DIRECT |
| SWIRM domain | 0 | DIRECT |
| beta-glycanases | 0 | DIRECT |
| tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
| Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| Cyclin | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
| FKBP immunophilin/proline isomerase | 0 | DIRECT |
| Histone deacetylase, HDAC | 0 | DIRECT |
| Erythroid transcription factor GATA-1 | 0 | DIRECT |
| Hect, E3 ligase catalytic domain | 0 | DIRECT |
| Prefoldin | 0 | DIRECT |
| Long-chain cytokines | 0 | DIRECT |
| Plakin repeat | 0 | DIRECT |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | DIRECT |
| Exostosin | 0 | DIRECT |
| Histone lysine methyltransferases | 0 | DIRECT |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
| Inositol polyphosphate 5-phosphatase (IPP5) | 0 | DIRECT |
| Ferredoxin reductase FAD-binding domain-like | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| beta-sandwich domain of Sec23/24 | 0 | DIRECT |
| Trunk domain of Sec23/24 | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| PWWP domain | 0 | DIRECT |
| DNA polymerase I | 0 | DIRECT |
| JAB1/MPN domain | 0 | DIRECT |
| IF2B-like | 0 | DIRECT |
| Integrin beta tail domain | 0 | DIRECT |
| PHD domain | 0.006612 | INHERITED FROM: Abnormal ocular adnexa morphology || Abnormality of calvarial morphology || Periauricular skin pits || Preauricular pit || Abnormality of the ocular adnexa || Abnormality of the orbital region || Downturned corners of mouth || Abnormal lip morphology || Microcephaly |
| Bromodomain | 0.02097 | INHERITED FROM: Abnormal facial shape || Long eyelashes || Nasolacrimal duct obstruction || Abnormal lacrimal duct morphology || Low anterior hairline || Thick eyebrow || Abnormality of mouth size || Abnormality of the philtrum || Microcephaly |
| Actin/HSP70 | 0.04503 | INHERITED FROM: Highly arched eyebrow || Short neck |
| Tetratricopeptide repeat (TPR) | 0.06025 | INHERITED FROM: Halitosis || Nasal polyposis |
| PX domain | 0.09081 | INHERITED FROM: Delayed eruption of teeth || Abnormality of the gingiva |
| G proteins | 0.09393 | INHERITED FROM: Eversion of lateral third of lower eyelids || Cranial asymmetry || Biparietal narrowing |
| Tandem AAA-ATPase domain | 0.09413 | INHERITED FROM: Narrow face |
| Fibroblast growth factors (FGF) | 0.09824 | INHERITED FROM: Reduced number of teeth |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.1075 | INHERITED FROM: Decreased head circumference |
| ARID domain | 0.128 | INHERITED FROM: Dandy-Walker malformation || Long eyelashes || Thick lower lip vermilion || Wide mouth || Depressed nasal ridge || Thick eyebrow || Decreased head circumference || Widened posterior fossa || Abnormality of the nasal bridge || Abnormality of the posterior cranial fossa || Abnormality of the skull base || Abnormal lip morphology || Microcephaly |
| Transcription factor STAT-4 N-domain | 0.128 | INHERITED FROM: Stomatitis |
| STAT DNA-binding domain | 0.128 | INHERITED FROM: Stomatitis |
| STAT | 0.128 | INHERITED FROM: Stomatitis |
| FHA domain | 0.1304 | INHERITED FROM: Sloping forehead |
| Laminin-type module | 0.1536 | INHERITED FROM: Oral mucosal blisters || Abnormality of dental enamel || Carious teeth || Abnormal oral frenulum morphology || Scarring alopecia of scalp || Alopecia of scalp || Ankyloglossia |
| Elongation factors | 0.1725 | INHERITED FROM: Decreased head circumference || Microcephaly |
| SNARE fusion complex | 0.1802 | INHERITED FROM: Long face |
| SPRY domain | 0.1802 | INHERITED FROM: Thin vermilion border || Abnormality of upper lip vermillion || Thin upper lip vermilion |
| TBP-associated factors, TAFs | 0.1802 | INHERITED FROM: Abnormality of the scalp || Abnormality of the scalp hair || Abnormality of the hairline |
| Pyrin domain, PYD | 0.1802 | INHERITED FROM: Conjunctivitis || Abnormal conjunctiva morphology || Aphthous ulcer || Recurrent aphthous stomatitis || Stomatitis |
| Homeodomain | 0.2044 | INHERITED FROM: Encephalocele || Abnormality of periauricular region || Cleft lip || Cleft upper lip || Bifid nose || Oral cleft || Abnormal hard palate morphology || Large fontanelles || Median cleft palate |
| Integrin A (or I) domain | 0.2169 | INHERITED FROM: Abnormal morphology of the musculature of the neck || Torticollis |
| HMG-box | 0.2215 | INHERITED FROM: Abnormality of the sense of smell || Cleft palate |
| ZZ domain | 0.2528 | INHERITED FROM: Downslanted palpebral fissures |
| p120GAP domain-like | 0.2528 | INHERITED FROM: Downslanted palpebral fissures |
| DIX domain | 0.2528 | INHERITED FROM: Oligodontia || Abnormal number of teeth || Reduced number of teeth |
| C1 set domains (antibody constant domain-like) | 0.257 | INHERITED FROM: Abnormal conjunctiva morphology || Abnormality of the paranasal sinuses || Keratoconjunctivitis sicca || Aphthous ulcer || Recurrent aphthous stomatitis |
| VWC domain | 0.2951 | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
| Myosin rod fragments | 0.3093 | INHERITED FROM: Limitation of neck motion || Narrow face |
| 28-residue LRR | 0.3093 | INHERITED FROM: Conjunctivitis || Abnormal conjunctiva morphology || Aphthous ulcer || Recurrent aphthous stomatitis || Stomatitis |
| RecA protein-like (ATPase-domain) | 0.3093 | INHERITED FROM: Abnormal shape of the palpebral fissure || Dolichocephaly || High palate || Abnormality of the uvula || Choanal atresia |
| Intermediate filament protein, coiled coil region | 0.3656 | INHERITED FROM: White lesion of the oral mucosa |
| Kelch motif | 0.3751 | INHERITED FROM: Weakness of facial musculature |
| T-box | 0.3751 | INHERITED FROM: Cleft palate || Oral cleft || Abnormal hard palate morphology |
| Clathrin coat assembly domain | 0.3819 | INHERITED FROM: Short philtrum || Wide mouth || Coarse facial features |
| Sema domain | 0.3848 | INHERITED FROM: Abnormality of the sense of smell |
| Cadherin | 0.4291 | INHERITED FROM: Hypoplasia of the maxilla |
| PLC-like (P variant) | 0.4291 | INHERITED FROM: Abnormality of the tongue |
| HLH, helix-loop-helix DNA-binding domain | 0.4551 | INHERITED FROM: Prominent occiput |
| MHC antigen-recognition domain | 0.4552 | INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis |
| Tropomyosin | 0.4704 | INHERITED FROM: Abnormal facial expression || Decreased facial expression || Narrow face |
| Canonical RBD | 0.534 | INHERITED FROM: Xerostomia |
| Arylsulfatase | 0.5376 | INHERITED FROM: Recurrent upper respiratory tract infections || Abnormality of the nasopharynx || Abnormality of the pharynx || Coarse facial features |
| GLA-domain | 0.5667 | INHERITED FROM: Abnormality of the gingiva |
| MIR domain | 0.5667 | INHERITED FROM: Bifid uvula || Abnormality of the uvula || Abnormal soft palate morphology |
| PDZ domain | 0.6419 | INHERITED FROM: Long palpebral fissure || Bifid tongue |
| ABC transporter ATPase domain-like | 0.6524 | INHERITED FROM: Curly eyelashes |
| Globins | 0.6747 | INHERITED FROM: Abnormality of malar bones |
| Fibrinogen C-terminal domain-like | 0.7528 | INHERITED FROM: Abnormality of the gingiva |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.7891 | INHERITED FROM: Abnormality of jaw muscles || Cystic hygroma |
| Nicotinic receptor ligand binding domain-like | 0.7891 | INHERITED FROM: Abnormality of jaw muscles || Cystic hygroma |
| Ngr ectodomain-like | 0.8254 | INHERITED FROM: Spontaneous, recurrent epistaxis |
| Eukaryotic proteases | 0.9254 | INHERITED FROM: Periodontitis || Abnormality of the gingiva || Premature loss of teeth || Epistaxis |
| I set domains | 0.9295 | INHERITED FROM: Cloverleaf skull |
| SCOP term | FDR (all) | Annotation (direct or inherited) |
| CCCH zinc finger | 0 | Direct |
| Zn-finger domain of Sec23/24 | 0 | Direct |
| CalX-beta domain | 0 | Direct |
| Proteasome subunits | 0 | Direct |
| Double-stranded RNA-binding domain (dsRBD) | 0 | Direct |
| Ferredoxin domains from multidomain proteins | 0 | Direct |
| Armadillo repeat | 0 | Direct |
| Protein serine/threonine phosphatase | 0 | Direct |
| C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
| L27 domain | 0 | Direct |
| Helical domain of Sec23/24 | 0 | Direct |
| BEACH domain | 0 | Direct |
| N-acetyl transferase, NAT | 0 | Direct |
| Serum paraoxonase/arylesterase 1, PON1 | 0 | Direct |
| Interleukin-1 (IL-1) | 0 | Direct |
| Clathrin adaptor core protein | 0 | Direct |
| Glycosyl transferases group 1 | 0 | Direct |
| Cytochrome b5 | 0 | Direct |
| Integrin beta EGF-like domains | 0 | Direct |
| BRK domain-like | 0 | Direct |
| SWIRM domain | 0 | Direct |
| beta-glycanases | 0 | Direct |
| tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
| Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | Direct |
| Notch domain | 0 | Direct |
| Cyclin | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| XPF/Rad1/Mus81 nuclease | 0 | Direct |
| FKBP immunophilin/proline isomerase | 0 | Direct |
| Histone deacetylase, HDAC | 0 | Direct |
| Erythroid transcription factor GATA-1 | 0 | Direct |
| Hect, E3 ligase catalytic domain | 0 | Direct |
| Prefoldin | 0 | Direct |
| Long-chain cytokines | 0 | Direct |
| Plakin repeat | 0 | Direct |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | Direct |
| Exostosin | 0 | Direct |
| Histone lysine methyltransferases | 0 | Direct |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
| Inositol polyphosphate 5-phosphatase (IPP5) | 0 | Direct |
| Ferredoxin reductase FAD-binding domain-like | 0 | Direct |
| TB module/8-cys domain | 0 | Direct |
| beta-sandwich domain of Sec23/24 | 0 | Direct |
| Trunk domain of Sec23/24 | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| PWWP domain | 0 | Direct |
| DNA polymerase I | 0 | Direct |
| JAB1/MPN domain | 0 | Direct |
| IF2B-like | 0 | Direct |
| Integrin beta tail domain | 0 | Direct |
| PHD domain | 0.006612 | Inherited |
| Bromodomain | 0.02097 | Inherited |
| Actin/HSP70 | 0.04503 | Inherited |
| Tetratricopeptide repeat (TPR) | 0.06025 | Inherited |
| PX domain | 0.09081 | Inherited |
| G proteins | 0.09393 | Inherited |
| Tandem AAA-ATPase domain | 0.09413 | Inherited |
| Fibroblast growth factors (FGF) | 0.09824 | Inherited |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.1075 | Inherited |
| ARID domain | 0.128 | Inherited |
| Transcription factor STAT-4 N-domain | 0.128 | Inherited |
| STAT DNA-binding domain | 0.128 | Inherited |
| STAT | 0.128 | Inherited |
| FHA domain | 0.1304 | Inherited |
| Laminin-type module | 0.1536 | Inherited |
| Elongation factors | 0.1725 | Inherited |
| SNARE fusion complex | 0.1802 | Inherited |
| SPRY domain | 0.1802 | Inherited |
| TBP-associated factors, TAFs | 0.1802 | Inherited |
| Pyrin domain, PYD | 0.1802 | Inherited |
| Homeodomain | 0.2044 | Inherited |
| Integrin A (or I) domain | 0.2169 | Inherited |
| HMG-box | 0.2215 | Inherited |
| ZZ domain | 0.2528 | Inherited |
| p120GAP domain-like | 0.2528 | Inherited |
| DIX domain | 0.2528 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.257 | Inherited |
| VWC domain | 0.2951 | Inherited |
| Myosin rod fragments | 0.3093 | Inherited |
| 28-residue LRR | 0.3093 | Inherited |
| RecA protein-like (ATPase-domain) | 0.3093 | Inherited |
| Intermediate filament protein, coiled coil region | 0.3656 | Inherited |
| Kelch motif | 0.3751 | Inherited |
| T-box | 0.3751 | Inherited |
| Clathrin coat assembly domain | 0.3819 | Inherited |
| Sema domain | 0.3848 | Inherited |
| Cadherin | 0.4291 | Inherited |
| PLC-like (P variant) | 0.4291 | Inherited |
| HLH, helix-loop-helix DNA-binding domain | 0.4551 | Inherited |
| MHC antigen-recognition domain | 0.4552 | Inherited |
| Tropomyosin | 0.4704 | Inherited |
| Canonical RBD | 0.534 | Inherited |
| Arylsulfatase | 0.5376 | Inherited |
| GLA-domain | 0.5667 | Inherited |
| MIR domain | 0.5667 | Inherited |
| PDZ domain | 0.6419 | Inherited |
| ABC transporter ATPase domain-like | 0.6524 | Inherited |
| Globins | 0.6747 | Inherited |
| Fibrinogen C-terminal domain-like | 0.7528 | Inherited |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.7891 | Inherited |
| Nicotinic receptor ligand binding domain-like | 0.7891 | Inherited |
| Ngr ectodomain-like | 0.8254 | Inherited |
| Eukaryotic proteases | 0.9254 | Inherited |
| I set domains | 0.9295 | 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)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
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 |
57903,47370
57903 - FYVE/PHD zinc finger
47370 - Bromodomain | 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 |
57184,63825
57184 - Growth factor receptor domain
63825 - YWTD domain | 0 | DIRECT |
48371,49899
48371 - ARM repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | DIRECT |
57196,90193
57196 - EGF/Laminin
90193 - Notch 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 |
50447,50465
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
54768,54768
54768 - dsRNA-binding domain-like
54768 - dsRNA-binding domain-like | 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 |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | DIRECT |
50729,81837
50729 - PH domain-like
81837 - BEACH domain | 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 | 0.04062 | INHERITED FROM: Large fontanelles || Prominent metopic ridge |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.0997 | INHERITED FROM: Abnormality of the sense of smell || Hyposmia || Hypomimic face |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.1104 | INHERITED FROM: Abnormality of dental enamel || Ankyloglossia || Scarring alopecia of scalp || Oral mucosal blisters |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1228 | INHERITED FROM: Encephalocele || Abnormality of calvarial morphology |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0.129 | INHERITED FROM: Macrocephaly |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | INHERITED FROM: Macrocephaly |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.129 | INHERITED FROM: Stomatitis |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.129 | INHERITED FROM: Stomatitis |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.129 | INHERITED FROM: Stomatitis |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0.1746 | INHERITED FROM: Microcephaly || Decreased head circumference |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.1805 | INHERITED FROM: Congenital muscular torticollis || Abnormal morphology of the musculature of the neck || Weakness of facial musculature || Facial palsy || Round face || Torticollis || Abnormality of facial musculature || Short neck |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1805 | INHERITED FROM: Abnormal conjunctiva morphology || Recurrent aphthous stomatitis || Abnormal oral mucosa morphology || Stomatitis || Aphthous ulcer || Conjunctivitis |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.2282 | INHERITED FROM: Decreased facial expression |
117281,117281
117281 - Kelch motif
117281 - Kelch motif | 0.2534 | INHERITED FROM: Midface retrusion |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0.2534 | INHERITED FROM: Depressed nasal bridge |
55486,82895
55486 - Metalloproteases ("zincins"), catalytic domain
82895 - TSP-1 type 1 repeat | 0.3822 | INHERITED FROM: Abnormality of dental morphology |
101912,103575
101912 - Sema domain
103575 - Plexin repeat | 0.3862 | INHERITED FROM: Abnormality of the sense of smell |
54928,54928
54928 - RNA-binding domain, RBD
54928 - RNA-binding domain, RBD | 0.3862 | INHERITED FROM: Xerostomia |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.3862 | INHERITED FROM: Abnormality of lower lip |
50978,50978
50978 - WD40 repeat-like
50978 - WD40 repeat-like | 0.3862 | INHERITED FROM: Widely spaced teeth |
49313,49313
49313 - Cadherin-like
49313 - Cadherin-like | 0.4332 | INHERITED FROM: Hypoplasia of the maxilla |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.4575 | INHERITED FROM: Recurrent aphthous stomatitis || Aphthous ulcer |
64593,64593
64593 - Intermediate filament protein, coiled coil region
64593 - Intermediate filament protein, coiled coil region | 0.4575 | INHERITED FROM: White lesion of the oral mucosa |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.4874 | INHERITED FROM: Abnormal nasolacrimal system morphology || Cloverleaf skull || Abnormal parotid gland morphology |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.5388 | INHERITED FROM: Conjunctivitis |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6195 | INHERITED FROM: Periauricular skin pits || Preauricular pit |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.7867 | INHERITED FROM: Abnormality of jaw muscles || Cystic hygroma |
| 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 |
57903,47370
57903 - FYVE/PHD zinc finger
47370 - Bromodomain | 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 |
57184,63825
57184 - Growth factor receptor domain
63825 - YWTD domain | 0 | Direct |
48371,49899
48371 - ARM repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | Direct |
57196,90193
57196 - EGF/Laminin
90193 - Notch 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 |
50447,50465
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
54768,54768
54768 - dsRNA-binding domain-like
54768 - dsRNA-binding domain-like | 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 |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | Direct |
50729,81837
50729 - PH domain-like
81837 - BEACH domain | 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 | 0.04062 | Inherited |
48371,48371
48371 - ARM repeat
48371 - ARM repeat | 0.0997 | Inherited |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.1104 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1228 | Inherited |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0.129 | Inherited |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | Inherited |
47655,49417
47655 - STAT
49417 - p53-like transcription factors | 0.129 | Inherited |
49417,55550
49417 - p53-like transcription factors
55550 - SH2 domain | 0.129 | Inherited |
48092,47655
48092 - Transcription factor STAT-4 N-domain
47655 - STAT | 0.129 | Inherited |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0.1746 | Inherited |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.1805 | Inherited |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1805 | Inherited |
90257,90257
90257 - Myosin rod fragments
90257 - Myosin rod fragments | 0.2282 | Inherited |
117281,117281
117281 - Kelch motif
117281 - Kelch motif | 0.2534 | Inherited |
50729,56112
50729 - PH domain-like
56112 - Protein kinase-like (PK-like) | 0.2534 | Inherited |
55486,82895
55486 - Metalloproteases ("zincins"), catalytic domain
82895 - TSP-1 type 1 repeat | 0.3822 | Inherited |
101912,103575
101912 - Sema domain
103575 - Plexin repeat | 0.3862 | Inherited |
54928,54928
54928 - RNA-binding domain, RBD
54928 - RNA-binding domain, RBD | 0.3862 | Inherited |
51445,51011
51445 - (Trans)glycosidases
51011 - Glycosyl hydrolase domain | 0.3862 | Inherited |
50978,50978
50978 - WD40 repeat-like
50978 - WD40 repeat-like | 0.3862 | Inherited |
49313,49313
49313 - Cadherin-like
49313 - Cadherin-like | 0.4332 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.4575 | Inherited |
64593,64593
64593 - Intermediate filament protein, coiled coil region
64593 - Intermediate filament protein, coiled coil region | 0.4575 | Inherited |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.4874 | Inherited |
57586,57586
57586 - TNF receptor-like
57586 - TNF receptor-like | 0.5388 | Inherited |
57716,57716
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6195 | Inherited |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.7867 | Inherited |
(show details)
Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196
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 |
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 |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | DIRECT |
52540,50447,50465
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
63825,57196,57424
63825 - YWTD domain
57196 - EGF/Laminin
57424 - LDL receptor-like module | 0 | DIRECT |
57184,57581,57184
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57424,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | DIRECT |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | DIRECT |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | DIRECT |
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 |
57667,57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.007796 | INHERITED FROM: Periorbital fullness |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02224 | INHERITED FROM: Encephalocele || Abnormality of calvarial morphology |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.06454 | INHERITED FROM: Nasal polyposis || Sinusitis || Halitosis || Rhinitis || Chronic sinusitis || Abnormality of the nasal mucosa |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.09126 | INHERITED FROM: Abnormality of the cheek || Abnormality of calvarial morphology |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | INHERITED FROM: Macrocephaly |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.129 | INHERITED FROM: Stomatitis |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.129 | INHERITED FROM: Stomatitis |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | INHERITED FROM: Macrocephaly |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2282 | INHERITED FROM: Dolichocephaly |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.3661 | INHERITED FROM: Ankyloglossia || Oral mucosal blisters || Abnormal oral frenulum morphology |
49313,49313,49313
49313 - Cadherin-like
49313 - Cadherin-like
49313 - Cadherin-like | 0.4332 | INHERITED FROM: Hypoplasia of the maxilla |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.5246 | INHERITED FROM: Nasolacrimal duct obstruction || Abnormal nasolacrimal system morphology || Cloverleaf skull || Abnormal parotid gland 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 |
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 |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | Direct |
52540,50447,50465
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 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 |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
63825,57196,57424
63825 - YWTD domain
57196 - EGF/Laminin
57424 - LDL receptor-like module | 0 | Direct |
57184,57581,57184
57184 - Growth factor receptor domain
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57196,57581,57184
57196 - EGF/Laminin
57581 - TB module/8-cys domain
57184 - Growth factor receptor domain | 0 | Direct |
57196,57424,57424
57196 - EGF/Laminin
57424 - LDL receptor-like module
57424 - LDL receptor-like module | 0 | Direct |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0 | Direct |
49503,49503,49503
49503 - Cupredoxins
49503 - Cupredoxins
49503 - Cupredoxins | 0 | Direct |
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 |
57667,57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.007796 | Inherited |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.02224 | 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 | 0.06454 | Inherited |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.09126 | Inherited |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | Inherited |
48092,47655,49417
48092 - Transcription factor STAT-4 N-domain
47655 - STAT
49417 - p53-like transcription factors | 0.129 | Inherited |
47655,49417,55550
47655 - STAT
49417 - p53-like transcription factors
55550 - SH2 domain | 0.129 | Inherited |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.129 | Inherited |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2282 | Inherited |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.3661 | Inherited |
49313,49313,49313
49313 - Cadherin-like
49313 - Cadherin-like
49313 - Cadherin-like | 0.4332 | Inherited |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.5246 | 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
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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