|
  
|
Mammalian Phenotype (MP): abnormal somatic nervous system morphology  
(show info)
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).
Jump to [ Top · Hierarchy · Annotations ]
Root: MP Hierarchy (mammalian/mouse phenotype from MGI_4.41)
Jump to [ Top · Hierarchy ]
Supra-domain (Single)( show details)
Highlighted in gray are those with FDR>0.001
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Jump to [ Top · Hierarchy ]
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) |
64593,74853 64593 - Intermediate filament protein, coiled coil region 74853 - Lamin A/C globular tail domain | 0 | DIRECT |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0001255 | DIRECT |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.0001255 | DIRECT |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0.00172 | INHERITED FROM: abnormal trigeminal nerve morphology || abnormal sensory neuron innervation pattern |
56112,55073 56112 - Protein kinase-like (PK-like) 55073 - Nucleotide cyclase | 0.001927 | INHERITED FROM: abnormal sensory neuron morphology || abnormal somatic sensory system morphology |
57716,48508 57716 - Glucocorticoid receptor-like (DNA-binding domain) 48508 - Nuclear receptor ligand-binding domain | 0.005405 | INHERITED FROM: optic disc coloboma || abnormal optic nerve morphology || abnormal optic disc morphology |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.02153 | INHERITED FROM: abnormal cochlear hair cell number || abnormal cochlear inner hair cell number || short photoreceptor inner segment || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.04423 | INHERITED FROM: abnormal trochlear nerve morphology || abnormal amacrine cell morphology |
47413,46689 47413 - lambda repressor-like DNA-binding domains 46689 - Homeodomain-like | 0.04681 | INHERITED FROM: abnormal retinal ganglion cell morphology || cochlear outer hair cell degeneration |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.04681 | INHERITED FROM: increased sensory neuron number || abnormal cochlear hair cell number || abnormal cochlear inner hair cell number || abnormal cochlear hair cell morphology || abnormal cochlear outer hair cell morphology || abnormal cochlear inner hair cell morphology || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
57184,49265 57184 - Growth factor receptor domain 49265 - Fibronectin type III | 0.05228 | INHERITED FROM: abnormal sensory neuron morphology || abnormal sensory neuron innervation pattern |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.05228 | INHERITED FROM: abnormal retinal photoreceptor morphology || decreased sensory neuron number || retinal photoreceptor degeneration || decreased retinal photoreceptor cell number |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.05228 | INHERITED FROM: abnormal retinal photoreceptor morphology || decreased sensory neuron number || retinal photoreceptor degeneration || decreased retinal photoreceptor cell number |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.06761 | INHERITED FROM: abnormal cochlear hair cell morphology || abnormal cochlear outer hair cell morphology || abnormal cochlear inner hair cell morphology || abnormal cochlear OHC efferent innervation pattern || abnormal hair cell morphology || cochlear ganglion degeneration |
52058,48726 52058 - L domain-like 48726 - Immunoglobulin | 0.07058 | INHERITED FROM: abnormal dorsal root ganglion morphology |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.0802 | INHERITED FROM: increased sensory neuron number || abnormal cochlear hair cell number || increased cochlear hair cell number || abnormal cochlear inner hair cell number || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
81296,81296 81296 - E set domains 81296 - E set domains | 0.0802 | INHERITED FROM: abnormal amacrine cell morphology |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.1325 | INHERITED FROM: increased sensory neuron number |
47473,57850 47473 - EF-hand 57850 - RING/U-box | 0.1325 | INHERITED FROM: abnormal somatic motor system morphology || abnormal neuromuscular synapse morphology |
49313,49313 49313 - Cadherin-like 49313 - Cadherin-like | 0.2291 | INHERITED FROM: abnormal orientation of outer hair cell stereociliary bundles || abnormal outer hair cell stereociliary bundle morphology || abnormal cochlear hair cell stereociliary bundle morphology || abnormal cochlear hair cell morphology || abnormal orientation of cochlear hair cell stereociliary bundles || abnormal cochlear outer hair cell morphology |
46785,144074 46785 - "Winged helix" DNA-binding domain 144074 - E2F-DP heterodimerization region | 0.3332 | INHERITED FROM: decreased sensory neuron number || abnormal retinal ganglion cell morphology || abnormal retinal bipolar cell morphology || decreased retinal ganglion cell number |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3899 | INHERITED FROM: abnormal somatic motor system morphology || abnormal neuromuscular synapse morphology |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.5286 | INHERITED FROM: abnormal outer hair cell stereociliary bundle morphology || abnormal cochlear hair cell stereociliary bundle morphology || abnormal cochlear outer hair cell morphology |
47473,47473 47473 - EF-hand 47473 - EF-hand | 0.5323 | INHERITED FROM: abnormal somatic motor system morphology |
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.5712 | INHERITED FROM: abnormal olfactory nerve morphology |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
64593,74853 64593 - Intermediate filament protein, coiled coil region 74853 - Lamin A/C globular tail domain | 0 | Direct |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0001255 | Direct |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.0001255 | Direct |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0.00172 | Inherited |
56112,55073 56112 - Protein kinase-like (PK-like) 55073 - Nucleotide cyclase | 0.001927 | Inherited |
57716,48508 57716 - Glucocorticoid receptor-like (DNA-binding domain) 48508 - Nuclear receptor ligand-binding domain | 0.005405 | Inherited |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.02153 | Inherited |
101912,103575 101912 - Sema domain 103575 - Plexin repeat | 0.04423 | Inherited |
47413,46689 47413 - lambda repressor-like DNA-binding domains 46689 - Homeodomain-like | 0.04681 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.04681 | Inherited |
57184,49265 57184 - Growth factor receptor domain 49265 - Fibronectin type III | 0.05228 | Inherited |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.05228 | Inherited |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.05228 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.06761 | Inherited |
52058,48726 52058 - L domain-like 48726 - Immunoglobulin | 0.07058 | Inherited |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.0802 | Inherited |
81296,81296 81296 - E set domains 81296 - E set domains | 0.0802 | Inherited |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.1325 | Inherited |
47473,57850 47473 - EF-hand 57850 - RING/U-box | 0.1325 | Inherited |
49313,49313 49313 - Cadherin-like 49313 - Cadherin-like | 0.2291 | Inherited |
46785,144074 46785 - "Winged helix" DNA-binding domain 144074 - E2F-DP heterodimerization region | 0.3332 | Inherited |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3899 | Inherited |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.5286 | Inherited |
47473,47473 47473 - EF-hand 47473 - EF-hand | 0.5323 | Inherited |
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.5712 | 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) |
52058,48726,48726 52058 - L domain-like 48726 - Immunoglobulin 48726 - Immunoglobulin | 0 | DIRECT |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0001255 | DIRECT |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.0006755 | DIRECT |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0.02416 | INHERITED FROM: abnormal somatic sensory system morphology |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.03652 | INHERITED FROM: abnormal cochlear hair cell number || increased cochlear hair cell number || abnormal cochlear inner hair cell number || abnormal cochlear hair cell morphology || abnormal cochlear outer hair cell morphology || abnormal cochlear inner hair cell morphology || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.05228 | INHERITED FROM: abnormal retinal photoreceptor morphology || decreased sensory neuron number || retinal photoreceptor degeneration || decreased retinal photoreceptor cell number |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.07058 | INHERITED FROM: increased sensory neuron number || abnormal cochlear hair cell number || abnormal mechanoreceptor morphology || increased cochlear hair cell number || abnormal cochlear inner hair cell number || abnormal cochlear hair cell morphology || abnormal cochlear outer hair cell morphology || abnormal cochlear inner hair cell morphology || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains | 0.0802 | INHERITED FROM: abnormal amacrine cell morphology |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.0802 | INHERITED FROM: increased sensory neuron number || abnormal cochlear hair cell number || abnormal cochlear inner hair cell number || abnormal cochlear hair cell morphology || increased cochlear outer hair cell number || abnormal cochlear outer hair cell morphology || abnormal cochlear inner hair cell morphology || abnormal somatic sensory system morphology || increased cochlear inner hair cell number || abnormal cochlear outer hair cell number |
49313,49313,49313 49313 - Cadherin-like 49313 - Cadherin-like 49313 - Cadherin-like | 0.1221 | INHERITED FROM: abnormal orientation of outer hair cell stereociliary bundles || abnormal outer hair cell stereociliary bundle morphology || abnormal cochlear hair cell stereociliary bundle morphology || abnormal cochlear hair cell morphology || abnormal orientation of cochlear hair cell stereociliary bundles || abnormal cochlear outer hair cell morphology |
47473,47473,57850 47473 - EF-hand 47473 - EF-hand 57850 - RING/U-box | 0.1325 | INHERITED FROM: abnormal somatic motor system morphology || abnormal neuromuscular synapse morphology |
49899,57196,57196 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1362 | INHERITED FROM: abnormal retinal bipolar cell morphology || abnormal amacrine cell morphology |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.2742 | INHERITED FROM: abnormal somatic motor system morphology || abnormal neuromuscular synapse morphology |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
52058,48726,48726 52058 - L domain-like 48726 - Immunoglobulin 48726 - Immunoglobulin | 0 | Direct |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0001255 | Direct |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.0006755 | Direct |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0.02416 | Inherited |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.03652 | Inherited |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.05228 | Inherited |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.07058 | Inherited |
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains | 0.0802 | Inherited |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.0802 | Inherited |
49313,49313,49313 49313 - Cadherin-like 49313 - Cadherin-like 49313 - Cadherin-like | 0.1221 | Inherited |
47473,47473,57850 47473 - EF-hand 47473 - EF-hand 57850 - RING/U-box | 0.1325 | Inherited |
49899,57196,57196 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1362 | Inherited |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.2742 | 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
 |
Plot tree as:
| |
Download Newick format tree:
|
( 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:
| |
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.
|
  
|