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Mammalian Phenotype (MP): lethality during fetal growth through weaning
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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: MP Hierarchy (mammalian/mouse phenotype from MGI_4.41)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Superfamily domains annotated to this MP term (SDMP level: Moderately Informative)
Highlighted in gray are those with FDR_all>0.001
SCOP term | FDR (all) | Annotation (direct or inherited) |
ATP-dependent DNA ligase DNA-binding domain | 0 | DIRECT |
A heparin-binding domain | 0 | DIRECT |
SRF-like | 0 | DIRECT |
Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain | 0 | DIRECT |
p53 tetramerization domain | 0 | DIRECT |
DNA ligase/mRNA capping enzyme, catalytic domain | 0 | DIRECT |
Amyloid beta a4 protein copper binding domain (domain 2) | 0 | DIRECT |
Lamin A/C globular tail domain | 0 | DIRECT |
CAPPD, an extracellular domain of amyloid beta A4 protein | 0 | DIRECT |
Homeodomain-like | 0.0000000000005699 | DIRECT |
HLH, helix-loop-helix DNA-binding domain | 0.000121 | DIRECT |
EGF/Laminin | 0.0002139 | DIRECT |
GAT-like domain | 0.003806 | INHERITED FROM: postnatal lethality || neonatal lethality, incomplete penetrance |
Protein kinase-like (PK-like) | 0.003857 | INHERITED FROM: lethality throughout fetal growth and development |
Growth factor receptor domain | 0.005917 | INHERITED FROM: perinatal lethality |
L27 domain | 0.05594 | INHERITED FROM: neonatal lethality, complete penetrance |
p53-like transcription factors | 0.0582 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
E2F-DP heterodimerization region | 0.09941 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
TB module/8-cys domain | 0.1395 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
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Family(show details)
Family domains annotated to this MP term (SDMP level: Moderately Informative)
Highlighted in gray are those with FDR_all>0.001
SCOP term | FDR (all) | Annotation (direct or inherited) |
Paired domain | 0 | DIRECT |
Lamin A/C globular tail domain | 0 | DIRECT |
CAPPD, an extracellular domain of amyloid beta A4 protein | 0 | DIRECT |
A heparin-binding domain | 0 | DIRECT |
DNA ligase/mRNA capping enzyme postcatalytic domain | 0 | DIRECT |
Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain | 0 | DIRECT |
p53 DNA-binding domain-like | 0 | DIRECT |
RUNT domain | 0 | DIRECT |
Amyloid beta a4 protein copper binding domain (domain 2) | 0 | DIRECT |
Neurotrophin | 0 | DIRECT |
L domain | 0 | DIRECT |
ATP-dependent DNA ligase catalytic domain | 0 | DIRECT |
p53 tetramerization domain | 0 | DIRECT |
E2F dimerization segment | 0 | DIRECT |
Retinoblastoma tumor suppressor domains | 0 | DIRECT |
SRF-like | 0 | DIRECT |
Homeodomain | 0.0000000000006016 | DIRECT |
Forkhead DNA-binding domain | 0.00002358 | DIRECT |
HLH, helix-loop-helix DNA-binding domain | 0.0002201 | DIRECT |
Erythroid transcription factor GATA-1 | 0.0003513 | DIRECT |
Growth factor receptor domain | 0.002157 | INHERITED FROM: perinatal lethality |
Protein kinases, catalytic subunit | 0.003593 | INHERITED FROM: lethality throughout fetal growth and development |
Laminin G-like module | 0.01737 | INHERITED FROM: perinatal lethality |
GAT domain | 0.02343 | INHERITED FROM: neonatal lethality, incomplete penetrance |
HMA, heavy metal-associated domain | 0.02343 | INHERITED FROM: postnatal lethality, incomplete penetrance |
Cell cycle transcription factor e2f-dp | 0.04485 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
L27 domain | 0.05041 | INHERITED FROM: neonatal lethality, complete penetrance |
Extracellular domain of cell surface receptors | 0.09147 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
Blood coagulation inhibitor (disintegrin) | 0.1142 | INHERITED FROM: perinatal lethality, incomplete penetrance |
TB module/8-cys domain | 0.1293 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
Enabled/VASP homology 1 domain (EVH1 domain) | 0.2043 | INHERITED FROM: lethality during fetal growth through weaning, incomplete penetrance |
Adenosine/AMP deaminase | 0.2571 | INHERITED FROM: postnatal lethality, complete penetrance |
gamma-adaptin C-terminal appendage domain-like | 0.2571 | INHERITED FROM: neonatal lethality, incomplete penetrance |
Pointed domain | 0.3016 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
ZZ domain | 0.3016 | INHERITED FROM: postnatal lethality, incomplete penetrance |
DNA replication initiator (cdc21/cdc54) N-terminal domain | 0.3016 | INHERITED FROM: postnatal lethality, incomplete penetrance |
ets domain | 0.3787 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
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.
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Supra-domain (including individual superfamily)
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
Supra-domain (Single) |
FDR (all) |
Annotation (direct or inherited) |
SRF-like | 0 | DIRECT |
ATP-dependent DNA ligase DNA-binding domain | 0 | DIRECT |
Amyloid beta a4 protein copper binding domain (domain 2) | 0 | DIRECT |
DNA ligase/mRNA capping enzyme, catalytic domain | 0 | DIRECT |
Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain | 0 | DIRECT |
A heparin-binding domain | 0 | DIRECT |
p53 tetramerization domain | 0 | DIRECT |
Lamin A/C globular tail domain | 0 | DIRECT |
CAPPD, an extracellular domain of amyloid beta A4 protein | 0 | DIRECT |
Homeodomain-like | 0.0000000000002065 | DIRECT |
HLH, helix-loop-helix DNA-binding domain | 0.00005948 | DIRECT |
EGF/Laminin | 0.0001086 | DIRECT |
GAT-like domain | 0.002234 | INHERITED FROM: neonatal lethality, incomplete penetrance || postnatal lethality || neonatal lethality |
Protein kinase-like (PK-like) | 0.002267 | INHERITED FROM: lethality throughout fetal growth and development |
Growth factor receptor domain | 0.003569 | INHERITED FROM: perinatal lethality || perinatal lethality, complete penetrance |
Orange domain-like | 0.008684 | INHERITED FROM: postnatal lethality, incomplete penetrance |
HMA, heavy metal-associated domain | 0.01922 | INHERITED FROM: postnatal lethality, incomplete penetrance |
L27 domain | 0.03995 | INHERITED FROM: neonatal lethality, complete penetrance |
p53-like transcription factors | 0.04173 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance |
E2F-DP heterodimerization region | 0.07497 | INHERITED FROM: postnatal lethality, incomplete penetrance || lethality throughout fetal growth and development, complete penetrance |
Blood coagulation inhibitor (disintegrin) | 0.08879 | INHERITED FROM: perinatal lethality, incomplete penetrance |
TB module/8-cys domain | 0.1094 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
Inhibitor of apoptosis (IAP) repeat | 0.1588 | INHERITED FROM: lethality throughout fetal growth and development |
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54236,57889 54236 - Ubiquitin-like 57889 - Cysteine-rich domain | 0 | DIRECT |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0 | DIRECT |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | DIRECT |
49417,47719 49417 - p53-like transcription factors 47719 - p53 tetramerization domain | 0 | DIRECT |
56491,89811 56491 - A heparin-binding domain 89811 - Amyloid beta a4 protein copper binding domain (domain 2) | 0 | DIRECT |
64593,74853 64593 - Intermediate filament protein, coiled coil region 74853 - Lamin A/C globular tail domain | 0 | DIRECT |
49562,51045 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 51045 - WW domain | 0 | DIRECT |
50729,50156 50729 - PH domain-like 50156 - PDZ domain-like | 0 | DIRECT |
56091,50249 56091 - DNA ligase/mRNA capping enzyme, catalytic domain 50249 - Nucleic acid-binding proteins | 0 | DIRECT |
117018,56091 117018 - ATP-dependent DNA ligase DNA-binding domain 56091 - DNA ligase/mRNA capping enzyme, catalytic domain | 0 | DIRECT |
52058,49265 52058 - L domain-like 49265 - Fibronectin type III | 0 | DIRECT |
48464,89009 48464 - ENTH/VHS domain 89009 - GAT-like domain | 0.002234 | INHERITED FROM: neonatal lethality, incomplete penetrance || postnatal lethality || neonatal lethality |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.008684 | INHERITED FROM: postnatal lethality, incomplete penetrance |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.01573 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0.01922 | INHERITED FROM: neonatal lethality, complete penetrance |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0.04779 | INHERITED FROM: perinatal lethality, incomplete penetrance |
101288,50156 101288 - L27 domain 50156 - PDZ domain-like | 0.04779 | INHERITED FROM: neonatal lethality, complete penetrance |
57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.05422 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance || lethality throughout fetal growth and development |
46785,144074 46785 - "Winged helix" DNA-binding domain 144074 - E2F-DP heterodimerization region | 0.07497 | INHERITED FROM: postnatal lethality, incomplete penetrance || lethality throughout fetal growth and development, complete penetrance |
55486,57552 55486 - Metalloproteases ("zincins"), catalytic domain 57552 - Blood coagulation inhibitor (disintegrin) | 0.08879 | INHERITED FROM: perinatal lethality, incomplete penetrance |
57184,63825 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.1094 | INHERITED FROM: perinatal lethality, complete penetrance |
57424,57184 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.1094 | INHERITED FROM: perinatal lethality, complete penetrance |
57196,63825 57196 - EGF/Laminin 63825 - YWTD domain | 0.1094 | INHERITED FROM: neonatal lethality |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.1588 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1588 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0.1588 | INHERITED FROM: perinatal lethality, incomplete penetrance |
57850,49599 57850 - RING/U-box 49599 - TRAF domain-like | 0.264 | INHERITED FROM: perinatal lethality, incomplete penetrance |
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54236,57889 54236 - Ubiquitin-like 57889 - Cysteine-rich domain | 0 | Direct |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0 | Direct |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | Direct |
49417,47719 49417 - p53-like transcription factors 47719 - p53 tetramerization domain | 0 | Direct |
56491,89811 56491 - A heparin-binding domain 89811 - Amyloid beta a4 protein copper binding domain (domain 2) | 0 | Direct |
64593,74853 64593 - Intermediate filament protein, coiled coil region 74853 - Lamin A/C globular tail domain | 0 | Direct |
49562,51045 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 51045 - WW domain | 0 | Direct |
50729,50156 50729 - PH domain-like 50156 - PDZ domain-like | 0 | Direct |
56091,50249 56091 - DNA ligase/mRNA capping enzyme, catalytic domain 50249 - Nucleic acid-binding proteins | 0 | Direct |
117018,56091 117018 - ATP-dependent DNA ligase DNA-binding domain 56091 - DNA ligase/mRNA capping enzyme, catalytic domain | 0 | Direct |
52058,49265 52058 - L domain-like 49265 - Fibronectin type III | 0 | Direct |
48464,89009 48464 - ENTH/VHS domain 89009 - GAT-like domain | 0.002234 | Inherited |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.008684 | Inherited |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.01573 | Inherited |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0.01922 | Inherited |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0.04779 | Inherited |
101288,50156 101288 - L27 domain 50156 - PDZ domain-like | 0.04779 | Inherited |
57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.05422 | Inherited |
46785,144074 46785 - "Winged helix" DNA-binding domain 144074 - E2F-DP heterodimerization region | 0.07497 | Inherited |
55486,57552 55486 - Metalloproteases ("zincins"), catalytic domain 57552 - Blood coagulation inhibitor (disintegrin) | 0.08879 | Inherited |
57184,63825 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.1094 | Inherited |
57424,57184 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.1094 | Inherited |
57196,63825 57196 - EGF/Laminin 63825 - YWTD domain | 0.1094 | Inherited |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.1588 | Inherited |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1588 | Inherited |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0.1588 | Inherited |
57850,49599 57850 - RING/U-box 49599 - TRAF domain-like | 0.264 | Inherited |
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
63825,57196,57424 63825 - YWTD domain 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | DIRECT |
52058,49265,49265 52058 - L domain-like 49265 - Fibronectin type III 49265 - Fibronectin type III | 0 | DIRECT |
49265,48726,49265 49265 - Fibronectin type III 48726 - Immunoglobulin 49265 - Fibronectin type III | 0 | DIRECT |
100895,100895,100895 100895 - Kazal-type serine protease inhibitors 100895 - Kazal-type serine protease inhibitors 100895 - Kazal-type serine protease inhibitors | 0 | DIRECT |
57196,57424,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0 | DIRECT |
57184,52058,49265 57184 - Growth factor receptor domain 52058 - L domain-like 49265 - Fibronectin type III | 0 | DIRECT |
50729,50156,50156 50729 - PH domain-like 50156 - PDZ domain-like 50156 - PDZ domain-like | 0 | DIRECT |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0 | DIRECT |
117018,56091,50249 117018 - ATP-dependent DNA ligase DNA-binding domain 56091 - DNA ligase/mRNA capping enzyme, catalytic domain 50249 - Nucleic acid-binding proteins | 0 | DIRECT |
54928,54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0 | DIRECT |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.0001849 | DIRECT |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.002234 | INHERITED FROM: neonatal lethality |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.00667 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.00667 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.008684 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
57924,57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.05422 | INHERITED FROM: lethality throughout fetal growth and development, complete penetrance || lethality throughout fetal growth and development |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.05665 | INHERITED FROM: neonatal lethality |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.1094 | INHERITED FROM: perinatal lethality, complete penetrance |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.1094 | INHERITED FROM: perinatal lethality, complete penetrance |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.1588 | INHERITED FROM: neonatal lethality |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0.2299 | INHERITED FROM: lethality throughout fetal growth and development, incomplete penetrance |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
63825,57196,57424 63825 - YWTD domain 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | Direct |
52058,49265,49265 52058 - L domain-like 49265 - Fibronectin type III 49265 - Fibronectin type III | 0 | Direct |
49265,48726,49265 49265 - Fibronectin type III 48726 - Immunoglobulin 49265 - Fibronectin type III | 0 | Direct |
100895,100895,100895 100895 - Kazal-type serine protease inhibitors 100895 - Kazal-type serine protease inhibitors 100895 - Kazal-type serine protease inhibitors | 0 | Direct |
57196,57424,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0 | Direct |
57184,52058,49265 57184 - Growth factor receptor domain 52058 - L domain-like 49265 - Fibronectin type III | 0 | Direct |
50729,50156,50156 50729 - PH domain-like 50156 - PDZ domain-like 50156 - PDZ domain-like | 0 | Direct |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0 | Direct |
117018,56091,50249 117018 - ATP-dependent DNA ligase DNA-binding domain 56091 - DNA ligase/mRNA capping enzyme, catalytic domain 50249 - Nucleic acid-binding proteins | 0 | Direct |
54928,54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0 | Direct |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.0001849 | Direct |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.002234 | Inherited |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.00667 | Inherited |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.00667 | Inherited |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.008684 | Inherited |
57924,57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.05422 | Inherited |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.05665 | Inherited |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.1094 | Inherited |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.1094 | Inherited |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.1588 | Inherited |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0.2299 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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A presence/absence matrix is generated using protein domains and supradomains
for all genomes in SUPERFAMILY. The RAxML
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
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