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Phenotypic Abnormality (PA): Abnormal homeostasis
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Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Superfamily domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Family domains annotated to this HP term (SDHP level: Moderately Informative)
Highlighted in gray are those with FDR_all>0.001
SCOP term | FDR (all) | Annotation (direct or inherited) |
Proteasome subunits | 0 | DIRECT |
Amylase, catalytic domain | 0 | DIRECT |
alpha-Amylases, C-terminal beta-sheet domain | 0 | DIRECT |
Apolipoprotein A-I | 0 | DIRECT |
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0 | DIRECT |
Smc hinge domain | 0 | DIRECT |
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0 | DIRECT |
Long-chain cytokines | 0 | DIRECT |
Plakin repeat | 0 | DIRECT |
HCDH C-domain-like | 0 | DIRECT |
FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
Fibrinogen coiled-coil and central regions | 0 | DIRECT |
IF2B-like | 0 | DIRECT |
MHC antigen-recognition domain | 0.004863 | INHERITED FROM: Edema |
BC N-terminal domain-like | 0.0057 | INHERITED FROM: Abnormality of acid-base homeostasis || Hypoglycemia |
Transcription factor STAT-4 N-domain | 0.0057 | INHERITED FROM: Fever |
STAT DNA-binding domain | 0.0057 | INHERITED FROM: Fever |
STAT | 0.0057 | INHERITED FROM: Fever |
BC ATP-binding domain-like | 0.0057 | INHERITED FROM: Abnormality of acid-base homeostasis || Hypoglycemia |
Ras GEF | 0.01448 | INHERITED FROM: Abnormality of fluid regulation || Edema |
Pyrin domain, PYD | 0.01448 | INHERITED FROM: Abnormality of temperature regulation || Fever |
Insulin-like | 0.03535 | INHERITED FROM: Abnormal blood glucose concentration || Hypoglycemia |
GAF domain | 0.03535 | INHERITED FROM: Glucose intolerance || Diabetes mellitus |
BC C-terminal domain-like | 0.03535 | INHERITED FROM: Abnormal blood glucose concentration || Acidosis || Abnormality of acid-base homeostasis || Hypoglycemia |
Hypoxia-inducible factor Hif2a, C-terminal domain | 0.03535 | INHERITED FROM: Glucose intolerance |
Crotonase-like | 0.04462 | INHERITED FROM: Acidosis || Abnormality of acid-base homeostasis |
PDEase | 0.04598 | INHERITED FROM: Glucose intolerance || Diabetes mellitus |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.07358 | INHERITED FROM: Acidosis || Abnormality of acid-base homeostasis |
Caspase recruitment domain, CARD | 0.09204 | INHERITED FROM: Fever |
28-residue LRR | 0.09923 | INHERITED FROM: Fever |
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.1263 | INHERITED FROM: Acidosis || Abnormality of acid-base homeostasis |
Cytoplasmic domain of inward rectifier potassium channel | 0.1381 | INHERITED FROM: Metabolic alkalosis || Alkalosis |
G proteins | 0.1617 | INHERITED FROM: Lymphedema |
Mitochondrial carrier | 0.1712 | INHERITED FROM: Lactic acidosis |
SH2 domain | 0.1762 | INHERITED FROM: Fever |
Ras-binding domain, RBD | 0.1918 | INHERITED FROM: Edema |
Biotinyl/lipoyl-carrier proteins and domains | 0.2437 | INHERITED FROM: Abnormal blood glucose concentration || Acidosis || Abnormality of acid-base homeostasis || Hypoglycemia |
Branched-chain alpha-keto acid dehydrogenase Pyr module | 0.2657 | INHERITED FROM: Acidosis || Abnormality of acid-base homeostasis || Lactic acidosis |
Branched-chain alpha-keto acid dehydrogenase PP module | 0.2657 | INHERITED FROM: Acidosis || Abnormality of acid-base homeostasis || Lactic acidosis |
Fibrinogen C-terminal domain-like | 0.2766 | INHERITED FROM: Joint swelling |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.3193 | INHERITED FROM: Abnormality of acid-base homeostasis || Increased serum lactate |
Complement control module/SCR domain | 0.4821 | INHERITED FROM: Generalized edema |
Phosphotyrosine-binding domain (PTB) | 0.505 | INHERITED FROM: Insulin resistance |
Eukaryotic proteases | 0.6383 | INHERITED FROM: Type I diabetes mellitus |
Neurotransmitter-gated ion-channel transmembrane pore | 0.8113 | INHERITED FROM: Malignant hyperthermia |
Nicotinic receptor ligand binding domain-like | 0.8113 | INHERITED FROM: Malignant hyperthermia |
Voltage-gated potassium channels | 0.8374 | INHERITED FROM: Metabolic alkalosis |
SCOP term | FDR (all) | Annotation (direct or inherited) |
Proteasome subunits | 0 | Direct |
Amylase, catalytic domain | 0 | Direct |
alpha-Amylases, C-terminal beta-sheet domain | 0 | Direct |
Apolipoprotein A-I | 0 | Direct |
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain | 0 | Direct |
Smc hinge domain | 0 | Direct |
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains | 0 | Direct |
Long-chain cytokines | 0 | Direct |
Plakin repeat | 0 | Direct |
HCDH C-domain-like | 0 | Direct |
FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | Direct |
Fibrinogen coiled-coil and central regions | 0 | Direct |
IF2B-like | 0 | Direct |
MHC antigen-recognition domain | 0.004863 | Inherited |
BC N-terminal domain-like | 0.0057 | Inherited |
Transcription factor STAT-4 N-domain | 0.0057 | Inherited |
STAT DNA-binding domain | 0.0057 | Inherited |
STAT | 0.0057 | Inherited |
BC ATP-binding domain-like | 0.0057 | Inherited |
Ras GEF | 0.01448 | Inherited |
Pyrin domain, PYD | 0.01448 | Inherited |
Insulin-like | 0.03535 | Inherited |
GAF domain | 0.03535 | Inherited |
BC C-terminal domain-like | 0.03535 | Inherited |
Hypoxia-inducible factor Hif2a, C-terminal domain | 0.03535 | Inherited |
Crotonase-like | 0.04462 | Inherited |
PDEase | 0.04598 | Inherited |
Class I aminoacyl-tRNA synthetases (RS), catalytic domain | 0.07358 | Inherited |
Caspase recruitment domain, CARD | 0.09204 | Inherited |
28-residue LRR | 0.09923 | Inherited |
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.1263 | Inherited |
Cytoplasmic domain of inward rectifier potassium channel | 0.1381 | Inherited |
G proteins | 0.1617 | Inherited |
Mitochondrial carrier | 0.1712 | Inherited |
SH2 domain | 0.1762 | Inherited |
Ras-binding domain, RBD | 0.1918 | Inherited |
Biotinyl/lipoyl-carrier proteins and domains | 0.2437 | Inherited |
Branched-chain alpha-keto acid dehydrogenase Pyr module | 0.2657 | Inherited |
Branched-chain alpha-keto acid dehydrogenase PP module | 0.2657 | Inherited |
Fibrinogen C-terminal domain-like | 0.2766 | Inherited |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.3193 | Inherited |
Complement control module/SCR domain | 0.4821 | Inherited |
Phosphotyrosine-binding domain (PTB) | 0.505 | Inherited |
Eukaryotic proteases | 0.6383 | Inherited |
Neurotransmitter-gated ion-channel transmembrane pore | 0.8113 | Inherited |
Nicotinic receptor ligand binding domain-like | 0.8113 | Inherited |
Voltage-gated potassium channels | 0.8374 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Trees by TreeVector
A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
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Supra-domains annotated to this HP term (SPHO level: Moderately Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | DIRECT |
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | DIRECT |
103473,100895 103473 - MFS general substrate transporter 100895 - Kazal-type serine protease inhibitors | 0 | DIRECT |
52096,52096 52096 - ClpP/crotonase 52096 - ClpP/crotonase | 0 | DIRECT |
51230,47005 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | DIRECT |
51905,55424 51905 - FAD/NAD(P)-binding domain 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | DIRECT |
52374,47323 52374 - Nucleotidylyl transferase 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.001784 | INHERITED FROM: Abnormality of acid-base homeostasis || Acidosis |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.003962 | INHERITED FROM: Edema |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.004896 | INHERITED FROM: Fever |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.004896 | INHERITED FROM: Fever |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.004896 | INHERITED FROM: Fever |
53901,53901 53901 - Thiolase-like 53901 - Thiolase-like | 0.01277 | INHERITED FROM: Hypoglycemia || Abnormal blood glucose concentration |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.01277 | INHERITED FROM: Abnormality of temperature regulation || Fever |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.03188 | INHERITED FROM: Diabetes mellitus || Glucose intolerance |
47459,55785 47459 - HLH, helix-loop-helix DNA-binding domain 55785 - PYP-like sensor domain (PAS domain) | 0.03188 | INHERITED FROM: Glucose intolerance |
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.03188 | INHERITED FROM: Hypoglycemia || Abnormal blood glucose concentration || Abnormality of acid-base homeostasis || Acidosis |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.03188 | INHERITED FROM: Diabetes mellitus || Glucose intolerance |
52440,56059 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like | 0.0404 | INHERITED FROM: Abnormality of acid-base homeostasis |
56645,47203 56645 - Acyl-CoA dehydrogenase NM domain-like 47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0.1016 | INHERITED FROM: Hypoglycemia || Abnormal blood glucose concentration || Acidosis || Hypothermia |
81324,81296 81324 - Voltage-gated potassium channels 81296 - E set domains | 0.1306 | INHERITED FROM: Metabolic alkalosis || Alkalosis |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.3166 | INHERITED FROM: Generalized edema |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.7813 | INHERITED FROM: Malignant hyperthermia |
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 |
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | Direct |
103473,100895 103473 - MFS general substrate transporter 100895 - Kazal-type serine protease inhibitors | 0 | Direct |
52096,52096 52096 - ClpP/crotonase 52096 - ClpP/crotonase | 0 | Direct |
51230,47005 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex | 0 | Direct |
51905,55424 51905 - FAD/NAD(P)-binding domain 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain | 0 | Direct |
52374,47323 52374 - Nucleotidylyl transferase 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases | 0.001784 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.003962 | Inherited |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.004896 | Inherited |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.004896 | Inherited |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.004896 | Inherited |
53901,53901 53901 - Thiolase-like 53901 - Thiolase-like | 0.01277 | Inherited |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.01277 | Inherited |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.03188 | Inherited |
47459,55785 47459 - HLH, helix-loop-helix DNA-binding domain 55785 - PYP-like sensor domain (PAS domain) | 0.03188 | Inherited |
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.03188 | Inherited |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.03188 | Inherited |
52440,56059 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like | 0.0404 | Inherited |
56645,47203 56645 - Acyl-CoA dehydrogenase NM domain-like 47203 - Acyl-CoA dehydrogenase C-terminal domain-like | 0.1016 | Inherited |
81324,81296 81324 - Voltage-gated potassium channels 81296 - E set domains | 0.1306 | Inherited |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.3166 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.7813 | Inherited |
(show details)
Supra-domains annotated to this HP term (SPHO level: Moderately Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
51230,47005,52777 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | DIRECT |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.004896 | INHERITED FROM: Fever |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.004896 | INHERITED FROM: Fever |
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.03188 | INHERITED FROM: Hypoglycemia || Abnormal blood glucose concentration || Abnormality of acid-base homeostasis || Acidosis |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.03188 | INHERITED FROM: Diabetes mellitus || Glucose intolerance |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.1825 | INHERITED FROM: Type II diabetes mellitus |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.3855 | INHERITED FROM: Type II diabetes mellitus |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.4756 | INHERITED FROM: Generalized edema |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
51230,47005,52777 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases | 0 | Direct |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.004896 | Inherited |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.004896 | Inherited |
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif | 0.03188 | Inherited |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.03188 | Inherited |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.1825 | Inherited |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.3855 | Inherited |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.4756 | 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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