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Phenotypic Abnormality (PA): Abnormality of the skeletal system
(show info)
Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
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 |
| Amylase, catalytic domain | 0 | DIRECT |
| Myotubularin-like phosphatases | 0 | DIRECT |
| Double-stranded RNA-binding domain (dsRBD) | 0 | DIRECT |
| Ferredoxin domains from multidomain proteins | 0 | DIRECT |
| Filamin repeat (rod domain) | 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 |
| N-acetyl transferase, NAT | 0 | DIRECT |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
| Clathrin adaptor core protein | 0 | DIRECT |
| Glycosyl transferases group 1 | 0 | DIRECT |
| SNARE fusion complex | 0 | DIRECT |
| BRK domain-like | 0 | DIRECT |
| SWIRM domain | 0 | DIRECT |
| tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
| Notch domain | 0 | DIRECT |
| Smc hinge domain | 0 | DIRECT |
| XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
| FKBP immunophilin/proline isomerase | 0 | DIRECT |
| Histone deacetylase, HDAC | 0 | DIRECT |
| Regulator of chromosome condensation RCC1 | 0 | DIRECT |
| Hect, E3 ligase catalytic domain | 0 | DIRECT |
| Ribonuclease PH domain 1-like | 0 | DIRECT |
| Long-chain cytokines | 0 | DIRECT |
| Plakin repeat | 0 | DIRECT |
| C5 cytosine-specific DNA methylase, DCM | 0 | DIRECT |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | DIRECT |
| Exostosin | 0 | DIRECT |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
| Inositol polyphosphate 5-phosphatase (IPP5) | 0 | DIRECT |
| Small Kunitz-type inhibitors & BPTI-like toxins | 0 | DIRECT |
| Ferredoxin reductase FAD-binding domain-like | 0 | DIRECT |
| Ribonuclease PH domain 2-like | 0 | DIRECT |
| Osteonectin | 0 | DIRECT |
| TB module/8-cys domain | 0 | DIRECT |
| beta-sandwich domain of Sec23/24 | 0 | DIRECT |
| Neutral endopeptidase (neprilysin) | 0 | DIRECT |
| Trunk domain of Sec23/24 | 0 | DIRECT |
| Fibrinogen coiled-coil and central regions | 0 | DIRECT |
| DNA polymerase I | 0 | DIRECT |
| IF2B-like | 0 | DIRECT |
| Classic zinc finger, C2H2 | 0.002957 | INHERITED FROM: Hand polydactyly |
| Tetratricopeptide repeat (TPR) | 0.01739 | INHERITED FROM: Postaxial polydactyly |
| PHD domain | 0.01739 | INHERITED FROM: Radioulnar synostosis || Abnormality of calvarial morphology || Microcephaly |
| Histone lysine methyltransferases | 0.02638 | INHERITED FROM: Abnormality of the hip bone || Abnormality of skull size || Hip dislocation || Lower extremity joint dislocation |
| Actin/HSP70 | 0.03868 | INHERITED FROM: Abnormal appendicular skeleton morphology || Abnormality of limb bone || Abnormality of limb bone morphology || Abnormality of finger || Short neck |
| G proteins | 0.0674 | INHERITED FROM: Biparietal narrowing || Cranial asymmetry || Enlarged thorax |
| Erythroid transcription factor GATA-1 | 0.08148 | INHERITED FROM: Abnormal digit morphology || Clinodactyly of the 5th finger || Brachydactyly || Abnormality of calvarial morphology || Abnormality of finger || Finger clinodactyly |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.0902 | INHERITED FROM: Decreased head circumference |
| Calponin-homology domain, CH-domain | 0.09797 | INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Scapular winging || Pectus excavatum || Decreased cervical spine flexion due to contractures of posterior cervical muscles |
| HMG-box | 0.09797 | INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Butterfly vertebrae |
| C1 set domains (antibody constant domain-like) | 0.1035 | INHERITED FROM: Abnormality of the paranasal sinuses || Chest pain |
| Homeodomain | 0.1067 | INHERITED FROM: Encephalocele || Decreased cervical spine mobility || Aplasia/Hypoplasia of the 2nd finger || Localized osteoporosis || Osteoporosis of vertebrae || Large fontanelles |
| Myosin rod fragments | 0.1159 | INHERITED FROM: Scapular winging || Hip dislocation |
| Globins | 0.1167 | INHERITED FROM: Abnormality of malar bones |
| ARID domain | 0.1167 | INHERITED FROM: Abnormality of the intervertebral disk || Short digit || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Abnormality of the posterior cranial fossa || Widened posterior fossa || Absent toe || Decreased head circumference || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Abnormal patella morphology || Abnormality of the skull base || Aplasia/Hypoplasia involving bones of the feet || Dandy-Walker malformation || Upper extremity joint dislocation || Abnormality of the phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the upper limbs || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Abnormality of upper limb joint || Joint hyperflexibility || Short finger || Microcephaly || Short distal phalanx of finger |
| Laminin-type module | 0.1349 | INHERITED FROM: Abnormality of dental enamel |
| Spectrin repeat | 0.1459 | INHERITED FROM: Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles |
| Bromodomain | 0.1459 | INHERITED FROM: Joint hypermobility || Abnormal patella morphology || Sacrococcygeal pilonidal abnormality || Sacral dimple || Microcephaly || Delayed skeletal maturation |
| Elongation factors | 0.1545 | INHERITED FROM: Decreased head circumference || Microcephaly |
| Hemopexin-like domain | 0.1545 | INHERITED FROM: Arthritis || Arthropathy || Metaphyseal widening || Abnormality of the femoral neck |
| DNA gyrase/MutL, second domain | 0.1664 | INHERITED FROM: Neoplasm of the skeletal system || Flexion contracture || Abnormal tendon morphology |
| DNA gyrase/MutL, N-terminal domain | 0.1664 | INHERITED FROM: Neoplasm of the skeletal system || Flexion contracture || Abnormal tendon morphology |
| TBP-associated factors, TAFs | 0.1664 | INHERITED FROM: Delayed skeletal maturation |
| Transforming growth factor (TGF)-beta | 0.189 | INHERITED FROM: Abnormal middle phalanx morphology of the hand || Spondylolisthesis || Short middle phalanx of finger || Aplasia/Hypoplasia of the middle phalanges of the hand |
| Growth factor receptor domain | 0.1911 | INHERITED FROM: Bowing of the arm |
| Matrix metalloproteases, catalytic domain | 0.2062 | INHERITED FROM: Metaphyseal widening |
| MMP N-terminal domain | 0.2062 | INHERITED FROM: Metaphyseal widening |
| MHC antigen-recognition domain | 0.2226 | INHERITED FROM: Chest pain |
| ZZ domain | 0.2376 | INHERITED FROM: Clinodactyly || Syndactyly |
| beta-glycanases | 0.2376 | INHERITED FROM: Abnormal vertebral morphology || Kyphosis |
| Insulin-like | 0.2376 | INHERITED FROM: Clinodactyly || Deviation of finger |
| GLA-domain | 0.273 | INHERITED FROM: Joint hemorrhage |
| VWC domain | 0.273 | INHERITED FROM: Long fingers || Abnormality of the hip joint || Abnormality of pelvic girdle bone morphology || Osteoarthritis || Hip dislocation || Enlarged thorax || Lower extremity joint dislocation || Slender finger || Joint hyperflexibility |
| RecA protein-like (ATPase-domain) | 0.2829 | INHERITED FROM: Forearm undergrowth || Aplasia/Hypoplasia of the radius || Aplasia/Hypoplasia of the ulna || Toe syndactyly || Hypoplasia of the ulna || Abnormal forearm bone morphology || Triangular shaped phalanges of the hand || Abnormality of thumb phalanx || Hip dislocation || Clubbing || Dolichocephaly || Clubbing of toes || Triphalangeal thumb || Abnormal morphology of ulna |
| Integrin A (or I) domain | 0.3291 | INHERITED FROM: Spinal rigidity || Adducted thumb || Interphalangeal joint contracture of finger || Finger joint hypermobility || Hyperextensibility at wrists || Distal joint laxity || Increased laxity of fingers || Increased laxity of ankles || Camptodactyly || Ankle flexion contracture || Flexion contracture of finger || Contractures of the joints of the upper limbs || Abnormal phalangeal joint morphology of the hand || Abnormality of hand joint mobility || Long toe |
| Ras-binding domain, RBD | 0.3583 | INHERITED FROM: Abnormality of the sternum || Joint hyperflexibility |
| HLH, helix-loop-helix DNA-binding domain | 0.4005 | INHERITED FROM: Abnormality of the phalanges of the 2nd finger || Prominent occiput |
| Tropomyosin | 0.4424 | INHERITED FROM: Limited hip movement || Contractures of the joints of the lower limbs || Elbow flexion contracture || Abnormality of the hip joint || Scapular winging || Abnormality of the synovia || Knee flexion contracture || Hip dislocation || Lower extremity joint dislocation || Congenital contracture || Hip contracture |
| Fibronectin type II module | 0.4634 | INHERITED FROM: Abnormality of the metaphysis |
| Fibrinogen C-terminal domain-like | 0.5052 | INHERITED FROM: Joint swelling |
| Arylsulfatase | 0.5052 | INHERITED FROM: Ovoid vertebral bodies || Dysostosis multiplex || Abnormality of the ribs |
| Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.5993 | INHERITED FROM: Hammertoe |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.5993 | INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Pterygium || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia |
| Nicotinic receptor ligand binding domain-like | 0.5993 | INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Pterygium || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia |
| Eukaryotic proteases | 0.718 | INHERITED FROM: Joint hemorrhage |
| Transducin (alpha subunit), insertion domain | 0.7258 | INHERITED FROM: Cerebral calcification |
| I set domains | 0.7518 | INHERITED FROM: Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Aplasia of the phalanges of the hand || Short middle phalanx of toe || Aplasia involving bones of the upper limbs || Aplasia involving bones of the extremities |
| TSP-1 type 1 repeat | 0.7725 | INHERITED FROM: Abnormality of femoral epiphysis || Abnormality of the epiphysis of the femoral head |
| MIR domain | 0.7898 | INHERITED FROM: Hyperlordosis || Multiple joint contractures || Lumbar hyperlordosis |
| Cadherin | 0.8622 | INHERITED FROM: Hypoplasia of the maxilla |
| Rhodopsin-like | 1 | INHERITED FROM: Generalized joint laxity |
| 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 |
| Amylase, catalytic domain | 0 | Direct |
| Myotubularin-like phosphatases | 0 | Direct |
| Double-stranded RNA-binding domain (dsRBD) | 0 | Direct |
| Ferredoxin domains from multidomain proteins | 0 | Direct |
| Filamin repeat (rod domain) | 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 |
| N-acetyl transferase, NAT | 0 | Direct |
| alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
| Clathrin adaptor core protein | 0 | Direct |
| Glycosyl transferases group 1 | 0 | Direct |
| SNARE fusion complex | 0 | Direct |
| BRK domain-like | 0 | Direct |
| SWIRM domain | 0 | Direct |
| tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
| Notch domain | 0 | Direct |
| Smc hinge domain | 0 | Direct |
| XPF/Rad1/Mus81 nuclease | 0 | Direct |
| FKBP immunophilin/proline isomerase | 0 | Direct |
| Histone deacetylase, HDAC | 0 | Direct |
| Regulator of chromosome condensation RCC1 | 0 | Direct |
| Hect, E3 ligase catalytic domain | 0 | Direct |
| Ribonuclease PH domain 1-like | 0 | Direct |
| Long-chain cytokines | 0 | Direct |
| Plakin repeat | 0 | Direct |
| C5 cytosine-specific DNA methylase, DCM | 0 | Direct |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0 | Direct |
| Exostosin | 0 | Direct |
| EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
| Inositol polyphosphate 5-phosphatase (IPP5) | 0 | Direct |
| Small Kunitz-type inhibitors & BPTI-like toxins | 0 | Direct |
| Ferredoxin reductase FAD-binding domain-like | 0 | Direct |
| Ribonuclease PH domain 2-like | 0 | Direct |
| Osteonectin | 0 | Direct |
| TB module/8-cys domain | 0 | Direct |
| beta-sandwich domain of Sec23/24 | 0 | Direct |
| Neutral endopeptidase (neprilysin) | 0 | Direct |
| Trunk domain of Sec23/24 | 0 | Direct |
| Fibrinogen coiled-coil and central regions | 0 | Direct |
| DNA polymerase I | 0 | Direct |
| IF2B-like | 0 | Direct |
| Classic zinc finger, C2H2 | 0.002957 | Inherited |
| Tetratricopeptide repeat (TPR) | 0.01739 | Inherited |
| PHD domain | 0.01739 | Inherited |
| Histone lysine methyltransferases | 0.02638 | Inherited |
| Actin/HSP70 | 0.03868 | Inherited |
| G proteins | 0.0674 | Inherited |
| Erythroid transcription factor GATA-1 | 0.08148 | Inherited |
| Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.0902 | Inherited |
| Calponin-homology domain, CH-domain | 0.09797 | Inherited |
| HMG-box | 0.09797 | Inherited |
| C1 set domains (antibody constant domain-like) | 0.1035 | Inherited |
| Homeodomain | 0.1067 | Inherited |
| Myosin rod fragments | 0.1159 | Inherited |
| Globins | 0.1167 | Inherited |
| ARID domain | 0.1167 | Inherited |
| Laminin-type module | 0.1349 | Inherited |
| Spectrin repeat | 0.1459 | Inherited |
| Bromodomain | 0.1459 | Inherited |
| Elongation factors | 0.1545 | Inherited |
| Hemopexin-like domain | 0.1545 | Inherited |
| DNA gyrase/MutL, second domain | 0.1664 | Inherited |
| DNA gyrase/MutL, N-terminal domain | 0.1664 | Inherited |
| TBP-associated factors, TAFs | 0.1664 | Inherited |
| Transforming growth factor (TGF)-beta | 0.189 | Inherited |
| Growth factor receptor domain | 0.1911 | Inherited |
| Matrix metalloproteases, catalytic domain | 0.2062 | Inherited |
| MMP N-terminal domain | 0.2062 | Inherited |
| MHC antigen-recognition domain | 0.2226 | Inherited |
| ZZ domain | 0.2376 | Inherited |
| beta-glycanases | 0.2376 | Inherited |
| Insulin-like | 0.2376 | Inherited |
| GLA-domain | 0.273 | Inherited |
| VWC domain | 0.273 | Inherited |
| RecA protein-like (ATPase-domain) | 0.2829 | Inherited |
| Integrin A (or I) domain | 0.3291 | Inherited |
| Ras-binding domain, RBD | 0.3583 | Inherited |
| HLH, helix-loop-helix DNA-binding domain | 0.4005 | Inherited |
| Tropomyosin | 0.4424 | Inherited |
| Fibronectin type II module | 0.4634 | Inherited |
| Fibrinogen C-terminal domain-like | 0.5052 | Inherited |
| Arylsulfatase | 0.5052 | Inherited |
| Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.5993 | Inherited |
| Neurotransmitter-gated ion-channel transmembrane pore | 0.5993 | Inherited |
| Nicotinic receptor ligand binding domain-like | 0.5993 | Inherited |
| Eukaryotic proteases | 0.718 | Inherited |
| Transducin (alpha subunit), insertion domain | 0.7258 | Inherited |
| I set domains | 0.7518 | Inherited |
| TSP-1 type 1 repeat | 0.7725 | Inherited |
| MIR domain | 0.7898 | Inherited |
| Cadherin | 0.8622 | Inherited |
| Rhodopsin-like | 1 | Inherited |
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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
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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 |
57903,57903
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 |
50156,50044
50156 - PDZ domain-like
50044 - SH3-domain | 0 | DIRECT |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | DIRECT |
103473,100895
103473 - MFS general substrate transporter
100895 - Kazal-type serine protease inhibitors | 0 | DIRECT |
56176,55103
56176 - FAD-binding/transporter-associated domain-like
55103 - FAD-linked oxidases, C-terminal domain | 0 | DIRECT |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | DIRECT |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
81995,81811
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 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 |
49265,48726
49265 - Fibronectin type III
48726 - Immunoglobulin | 0 | DIRECT |
53300,81995
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24 | 0 | DIRECT |
54211,55666
54211 - Ribosomal protein S5 domain 2-like
55666 - Ribonuclease PH domain 2-like | 0 | DIRECT |
-7,56112
-7 - CATH
56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | DIRECT |
57850,57845
57850 - RING/U-box
57845 - B-box zinc-binding domain | 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 |
103575,48726
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | DIRECT |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | DIRECT |
47060,55681
47060 - S15/NS1 RNA-binding domain
55681 - Class II aaRS and biotin synthetases | 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 | 0.005614 | INHERITED FROM: Large fontanelles || Prominent metopic ridge |
57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.02 | INHERITED FROM: Hand polydactyly |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.02385 | INHERITED FROM: Interphalangeal joint contracture of finger || Contractures of the joints of the upper limbs || Kyphoscoliosis || Abnormality of dental enamel |
48452,48452
48452 - TPR-like
48452 - TPR-like | 0.03402 | INHERITED FROM: Postaxial polydactyly |
49899,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0.08188 | INHERITED FROM: Arthrogryposis multiplex congenita || Thoracic hypoplasia || Narrow chest |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1059 | INHERITED FROM: Short finger || Encephalocele || Abnormality of calvarial morphology || Brachydactyly || Absent toe || Short phalanx of finger || Abnormal form of the vertebral bodies |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0.1178 | INHERITED FROM: Macrocephaly |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | INHERITED FROM: Macrocephaly |
81296,81296
81296 - E set domains
81296 - E set domains | 0.1178 | INHERITED FROM: Abnormality of fibula morphology || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the radius || Abnormality of forearm bone || Abnormality of the ulna || Short long bone || Abnormal metacarpal morphology || Aplasia/Hypoplasia of the fibula |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0.1568 | INHERITED FROM: Microcephaly || Decreased head circumference |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.1675 | INHERITED FROM: Ankle flexion contracture || Flexion contracture of finger || Flexion contracture of digit || Spinal rigidity || Camptodactyly || Finger joint hypermobility || Contractures of the joints of the lower limbs || Joint contracture of the hand || Hip dislocation || Elbow flexion contracture || Slender finger || Adducted thumb || Increased laxity of fingers || Multiple joint contractures || Hyperextensibility at wrists || Joint laxity || Interphalangeal joint contracture of finger || Lower extremity joint dislocation || Contractures of the joints of the upper limbs || Abnormality of the elbow || Camptodactyly of finger || Abnormality of the ankles || Abnormal phalangeal joint morphology of the hand || Distal joint laxity || Abnormal thumb morphology || Abnormality of hand joint mobility || Limited elbow movement || Joint stiffness || Abnormality of the knee || Knee flexion contracture || Long toe || Short neck || Abnormality of the hip joint || Joint hypermobility || Increased laxity of ankles |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.1675 | INHERITED FROM: Neoplasm of the skeletal system || Abnormal tendon morphology || Flexion contracture |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1675 | INHERITED FROM: Arthritis |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.2086 | INHERITED FROM: Metaphyseal widening |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.2254 | INHERITED FROM: Chest pain |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.2333 | INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles |
82199,57667
82199 - SET domain
57667 - beta-beta-alpha zinc fingers | 0.2385 | INHERITED FROM: Abnormality of the hip bone || Hip dysplasia |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.2385 | INHERITED FROM: Joint hemorrhage |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.2469 | INHERITED FROM: Short middle phalanx of toe || Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Elbow ankylosis |
50729,50729
50729 - PH domain-like
50729 - PH domain-like | 0.2747 | INHERITED FROM: Interphalangeal joint contracture of finger || Camptodactyly of finger |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.3522 | INHERITED FROM: Joint hyperflexibility || Osteoarthritis |
50978,50978
50978 - WD40 repeat-like
50978 - WD40 repeat-like | 0.3585 | INHERITED FROM: Aplasia/Hypoplasia of the ribs || Thoracic hypoplasia || Short ribs || Narrow chest |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.6033 | INHERITED FROM: Thoracic scoliosis || Multiple pterygia || Thoracic kyphoscoliosis || Abnormality of the thoracic spine || Pterygium || Abnormal cervical curvature |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.723 | INHERITED FROM: Cerebral calcification |
49313,49313
49313 - Cadherin-like
49313 - Cadherin-like | 0.857 | INHERITED FROM: Hypoplasia of the maxilla |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399
75399 - Plakin repeat
75399 - Plakin repeat | 0 | Direct |
53098,56672
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases | 0 | Direct |
57581,57196
57581 - TB module/8-cys domain
57196 - EGF/Laminin | 0 | Direct |
81811,82754
81811 - Helical domain of Sec23/24
82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
52980,47781
52980 - Restriction endonuclease-like
47781 - RuvA domain 2-like | 0 | Direct |
82919,53300
82919 - Zn-finger domain of Sec23/24
53300 - vWA-like | 0 | Direct |
57903,57903
57903 - FYVE/PHD zinc finger
57903 - FYVE/PHD zinc finger | 0 | Direct |
57889,48350
57889 - Cysteine-rich domain
48350 - GTPase activation domain, GAP | 0 | Direct |
50156,50044
50156 - PDZ domain-like
50044 - SH3-domain | 0 | Direct |
57196,57581
57196 - EGF/Laminin
57581 - TB module/8-cys domain | 0 | Direct |
103473,100895
103473 - MFS general substrate transporter
100895 - Kazal-type serine protease inhibitors | 0 | Direct |
56176,55103
56176 - FAD-binding/transporter-associated domain-like
55103 - FAD-linked oxidases, C-terminal domain | 0 | Direct |
64268,50044
64268 - PX domain
50044 - SH3-domain | 0 | Direct |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
81995,81811
81995 - beta-sandwich domain of Sec23/24
81811 - Helical domain of Sec23/24 | 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 |
49265,48726
49265 - Fibronectin type III
48726 - Immunoglobulin | 0 | Direct |
53300,81995
53300 - vWA-like
81995 - beta-sandwich domain of Sec23/24 | 0 | Direct |
54211,55666
54211 - Ribosomal protein S5 domain 2-like
55666 - Ribonuclease PH domain 2-like | 0 | Direct |
-7,56112
-7 - CATH
56112 - Protein kinase-like (PK-like) | 0 | Direct |
57184,57184
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0 | Direct |
57850,57845
57850 - RING/U-box
57845 - B-box zinc-binding domain | 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 |
103575,48726
103575 - Plexin repeat
48726 - Immunoglobulin | 0 | Direct |
53822,53850
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II | 0 | Direct |
47060,55681
47060 - S15/NS1 RNA-binding domain
55681 - Class II aaRS and biotin synthetases | 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 | 0.005614 | Inherited |
57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.02 | Inherited |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.02385 | Inherited |
48452,48452
48452 - TPR-like
48452 - TPR-like | 0.03402 | Inherited |
49899,57196
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin | 0.08188 | Inherited |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.1059 | Inherited |
54160,54160
54160 - Chromo domain-like
54160 - Chromo domain-like | 0.1178 | Inherited |
54160,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | Inherited |
81296,81296
81296 - E set domains
81296 - E set domains | 0.1178 | Inherited |
52540,50447
52540 - P-loop containing nucleoside triphosphate hydrolases
50447 - Translation proteins | 0.1568 | Inherited |
53300,53300
53300 - vWA-like
53300 - vWA-like | 0.1675 | Inherited |
55874,54211
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
54211 - Ribosomal protein S5 domain 2-like | 0.1675 | Inherited |
47986,52540
47986 - DEATH domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1675 | Inherited |
47090,55486
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain | 0.2086 | Inherited |
54452,48726
54452 - MHC antigen-recognition domain
48726 - Immunoglobulin | 0.2254 | Inherited |
46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.2333 | Inherited |
82199,57667
82199 - SET domain
57667 - beta-beta-alpha zinc fingers | 0.2385 | Inherited |
57630,57196
57630 - GLA-domain
57196 - EGF/Laminin | 0.2385 | Inherited |
48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.2469 | Inherited |
50729,50729
50729 - PH domain-like
50729 - PH domain-like | 0.2747 | Inherited |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.3522 | Inherited |
50978,50978
50978 - WD40 repeat-like
50978 - WD40 repeat-like | 0.3585 | Inherited |
63712,90112
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.6033 | Inherited |
47895,52540
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.723 | Inherited |
49313,49313
49313 - Cadherin-like
49313 - Cadherin-like | 0.857 | 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 |
50156,50044,52540
50156 - PDZ domain-like
50044 - SH3-domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | DIRECT |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | DIRECT |
48726,49265,48726
48726 - Immunoglobulin
49265 - Fibronectin type III
48726 - Immunoglobulin | 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 |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor 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 |
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 |
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 |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
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 |
101912,103575,48726
101912 - Sema domain
103575 - Plexin repeat
48726 - Immunoglobulin | 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 |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.01853 | INHERITED FROM: Short finger || Encephalocele || Abnormal vertebral morphology || Abnormality of calvarial morphology || Brachydactyly || Absent toe || Short phalanx of finger || Abnormality of limb bone morphology || Abnormal form of the vertebral bodies |
52540,52540,52540
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.05672 | INHERITED FROM: Sinusitis || Chronic sinusitis || Clubbing of fingers || Abnormal fingertip morphology || Clubbing |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | INHERITED FROM: Macrocephaly |
81296,81296,81296
81296 - E set domains
81296 - E set domains
81296 - E set domains | 0.1178 | INHERITED FROM: Abnormality of fibula morphology || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the radius || Abnormality of forearm bone || Abnormality of the ulna || Short long bone || Abnormal metacarpal morphology || Aplasia/Hypoplasia of the fibula |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | INHERITED FROM: Macrocephaly |
82199,57667,57667
82199 - SET domain
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.2385 | INHERITED FROM: Abnormality of the hip bone || Hip dysplasia |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.2877 | INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Contractures involving the joints of the feet || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles |
82895,82895,82895
82895 - TSP-1 type 1 repeat
82895 - TSP-1 type 1 repeat
82895 - TSP-1 type 1 repeat | 0.3522 | INHERITED FROM: Joint stiffness |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.3552 | INHERITED FROM: Short middle phalanx of toe || Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Elbow ankylosis || Rocker bottom foot |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.4435 | INHERITED FROM: Dolichocephaly |
49313,49313,49313
49313 - Cadherin-like
49313 - Cadherin-like
49313 - Cadherin-like | 0.857 | INHERITED FROM: Hypoplasia of the maxilla |
| 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 |
50156,50044,52540
50156 - PDZ domain-like
50044 - SH3-domain
52540 - P-loop containing nucleoside triphosphate hydrolases | 0 | Direct |
141072,141072,141072
141072 - CalX-like
141072 - CalX-like
141072 - CalX-like | 0 | Direct |
48726,49265,48726
48726 - Immunoglobulin
49265 - Fibronectin type III
48726 - Immunoglobulin | 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 |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor 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 |
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 |
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 |
57184,57196,57184
57184 - Growth factor receptor domain
57196 - EGF/Laminin
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 |
101912,103575,48726
101912 - Sema domain
103575 - Plexin repeat
48726 - Immunoglobulin | 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 |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.01853 | 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 | 0.05672 | Inherited |
54160,54160,52540
54160 - Chromo domain-like
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | Inherited |
81296,81296,81296
81296 - E set domains
81296 - E set domains
81296 - E set domains | 0.1178 | Inherited |
54160,52540,52540
54160 - Chromo domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1178 | Inherited |
82199,57667,57667
82199 - SET domain
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.2385 | Inherited |
46966,46966,46966
46966 - Spectrin repeat
46966 - Spectrin repeat
46966 - Spectrin repeat | 0.2877 | Inherited |
82895,82895,82895
82895 - TSP-1 type 1 repeat
82895 - TSP-1 type 1 repeat
82895 - TSP-1 type 1 repeat | 0.3522 | Inherited |
48726,48726,48726
48726 - Immunoglobulin
48726 - Immunoglobulin
48726 - Immunoglobulin | 0.3552 | Inherited |
57184,57196,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.4435 | Inherited |
49313,49313,49313
49313 - Cadherin-like
49313 - Cadherin-like
49313 - Cadherin-like | 0.857 | 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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