RNF130 wt Allele

Preferred Label : RNF130 wt Allele;

NCIt synonyms : GOLIATH; G1RZFP; GP; Ring Finger Protein 130 wt Allele; G1RP;

NCIt definition : Human RNF130 wild-type allele is located in the vicinity of 5q35.3 and is approximately 153 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RNF130 protein, plays a role in protein ubiquitylation. A fusion of this gene and the BRAF gene may be associated with pilocytic astrocytoma.;

GenBank Accession Number : AF155650;

Details

Origin ID

C111932;

UMLS CUI

C3811116;

Automatic exact mappings (from CISMeF team)
- Primary care physician (occupation) [SNOMED CT concept]
- Ring finger protein 130 [OMIM gene]
- family doctor [Q-code]
OMIM relation
- Ring finger protein 130 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.3 [NCIt concept]
gene_plays_role_in_process
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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