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Mammalian Phenotype (MP): embryonic lethality  
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Biomedical Ontology
Like Gene Ontology (GO), biomedical ontology such as phenotype 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. Biomedical ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI’s thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology 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 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 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 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 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 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 displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology 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 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 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.
- UniProtKB KeyWords (KW) Ontology 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).
- CTD Diseases (CD) Ontology CD is MEDIC disease vocabulary that is modified by CTD from the "Diseases" [C] branch of Medical Subject Headings (MeSH), combined with genetic disorders from the Online Mendelian Inheritance in OMIM database.
- CTD Chemicals (CC) Ontology CC is chemical vocabulary that is adapted by CTD from the "Chemicals and Drugs" category and Supplementary Concept Records of Medical Subject Headings (MeSH, a hierarchical vocabulary used to index articles for MEDLINE/PubMed).
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Root: MP Hierarchy (mammalian/mouse phenotype from MGI_4.41)
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Family( show details)
Highlighted in gray are those with FDR_all>0.001
| SCOP term |
FDR (all) |
Annotation (direct or inherited) |
| Chromo barrel domain | 0 | DIRECT |
| Ribonuclease PH domain 1-like | 0 | DIRECT |
| DNA ligase | 0 | DIRECT |
| Group II chaperonin (CCT, TRIC), apical domain | 0 | DIRECT |
| Fumble-like | 0 | DIRECT |
| Retinoblastoma tumor suppressor domains | 0 | DIRECT |
| Ribonuclease PH domain 2-like | 0 | DIRECT |
| RecA protein-like (ATPase-domain) | 0.00005436 | DIRECT |
| Phoshoinositide 3-kinase (PI3K), catalytic domain | 0.0001639 | DIRECT |
| Inhibitor of apoptosis (IAP) repeat | 0.000584 | DIRECT |
| SMAD MH1 domain | 0.000717 | DIRECT |
| SMAD domain | 0.000717 | DIRECT |
| SCF ubiquitin ligase complex WHB domain | 0.00226 | INHERITED FROM: embryonic lethality between implantation and placentation || embryonic lethality between implantation and somite formation || embryonic lethality between implantation and somite formation, complete penetrance |
| Armadillo repeat | 0.006316 | INHERITED FROM: embryonic lethality between implantation and somite formation || embryonic lethality between implantation and somite formation, complete penetrance |
| Proprotein convertase P-domain | 0.008236 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
| Prohormone convertase 1 pro-domain | 0.008236 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
| DNA polymerase I | 0.008236 | INHERITED FROM: embryonic lethality between implantation and placentation || embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
| C5 cytosine-specific DNA methylase, DCM | 0.008428 | INHERITED FROM: embryonic lethality, complete penetrance |
| Subtilases | 0.01329 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
| Tandem AAA-ATPase domain | 0.02587 | INHERITED FROM: embryonic lethality prior to organogenesis |
| T-box | 0.1267 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
| Extracellular domain of cell surface receptors | 0.2363 | INHERITED FROM: embryonic lethality between implantation and placentation || embryonic lethality between implantation and somite formation || embryonic lethality between implantation and somite formation, complete penetrance |
| Erythroid transcription factor GATA-1 | 0.2914 | INHERITED FROM: embryonic lethality during organogenesis || embryonic lethality during organogenesis, complete penetrance |
| Histone lysine methyltransferases | 0.3516 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
| Cullin homology domain | 0.359 | INHERITED FROM: embryonic lethality between implantation and somite formation || embryonic lethality between implantation and somite formation, complete penetrance |
| Ubiquitin carboxyl-terminal hydrolase, UCH | 0.3974 | INHERITED FROM: embryonic lethality between implantation and placentation, complete penetrance |
| Linker histone H1/H5 | 0.4415 | INHERITED FROM: embryonic lethality between implantation and somite formation, incomplete penetrance |
| N-acetyl transferase, NAT | 0.6939 | INHERITED FROM: embryonic lethality between implantation and somite formation, complete penetrance |
| Cell cycle transcription factor e2f-dp | 0.7585 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
| Extended AAA-ATPase domain | 0.8071 | INHERITED FROM: embryonic lethality before implantation, complete penetrance || embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
LINKTO: Domain2BO Download and Domain2BO Algorithm
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Supra-domain (Single)( show details)
Highlighted in gray are those with FDR>0.001
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
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Supra-domain (Duplex) in N- to C-terminal order( show details)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54849,52029 54849 - GroEL-intermediate domain like 52029 - GroEL apical domain-like | 0 | DIRECT |
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like | 0 | DIRECT |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | DIRECT |
75632,46785 75632 - Cullin homology domain 46785 - "Winged helix" DNA-binding domain | 0.002131 | INHERITED FROM: embryonic lethality between implantation and placentation || embryonic lethality between implantation and somite formation, complete penetrance || embryonic lethality between implantation and somite formation |
52113,52113 52113 - BRCT domain 52113 - BRCT domain | 0.002343 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality between implantation and somite formation, complete penetrance || embryonic lethality between implantation and somite formation || embryonic lethality prior to tooth bud stage |
52743,49785 52743 - Subtilisin-like 49785 - Galactose-binding domain-like | 0.007787 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.01793 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.01793 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02061 | INHERITED FROM: embryonic lethality prior to organogenesis |
63501,50242 63501 - Frizzled cysteine-rich domain 50242 - TIMP-like | 0.02427 | INHERITED FROM: embryonic lethality, complete penetrance |
54160,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | INHERITED FROM: embryonic lethality, complete penetrance |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
54849,52029 54849 - GroEL-intermediate domain like 52029 - GroEL apical domain-like | 0 | Direct |
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like | 0 | Direct |
57196,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | Direct |
75632,46785 75632 - Cullin homology domain 46785 - "Winged helix" DNA-binding domain | 0.002131 | Inherited |
52113,52113 52113 - BRCT domain 52113 - BRCT domain | 0.002343 | Inherited |
52743,49785 52743 - Subtilisin-like 49785 - Galactose-binding domain-like | 0.007787 | Inherited |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.01793 | Inherited |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.01793 | Inherited |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.02061 | Inherited |
63501,50242 63501 - Frizzled cysteine-rich domain 50242 - TIMP-like | 0.02427 | Inherited |
54160,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | Inherited |
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Jump to [ Top · Hierarchy ]
Supra-domain (Triple) in N- to C-terminal order( show details)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
63825,57196,57424 63825 - YWTD domain 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | DIRECT |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57424,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0 | DIRECT |
54897,52743,49785 54897 - Protease propeptides/inhibitors 52743 - Subtilisin-like 49785 - Galactose-binding domain-like | 0.007787 | INHERITED FROM: embryonic lethality prior to organogenesis || embryonic lethality prior to tooth bud stage |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.01793 | INHERITED FROM: embryonic lethality during organogenesis, complete penetrance |
54160,54160,52540 54160 - Chromo domain-like 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | INHERITED FROM: embryonic lethality, complete penetrance |
54160,52540,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | INHERITED FROM: embryonic lethality, complete penetrance |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
63825,57196,57424 63825 - YWTD domain 57196 - EGF/Laminin 57424 - LDL receptor-like module | 0 | Direct |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
57196,57424,57424 57196 - EGF/Laminin 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0 | Direct |
54897,52743,49785 54897 - Protease propeptides/inhibitors 52743 - Subtilisin-like 49785 - Galactose-binding domain-like | 0.007787 | Inherited |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.01793 | Inherited |
54160,54160,52540 54160 - Chromo domain-like 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | Inherited |
54160,52540,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.3689 | Inherited |
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Plot distribution on species Tree Of Life (sTOL) for Superfamily and/or Family domains annotated by this MP term
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Plot tree as:
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Download Newick format tree:
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( show help)
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.
Plot distribution on species Tree Of Life (sTOL) for single supra-domains annotated by this MP term
 |
Plot tree as:
| |
Download Newick format tree:
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Browsing in TREE OF LIFE:
|
( show help)
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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