TMPRSS2/ETV1 Fusion Gene

Preferred Label : TMPRSS2/ETV1 Fusion Gene;

NCIt synonyms : TMPRSS2-ETV1 Fusion Gene; ETV1/TMPRSS2 Fusion Gene; TMPRSS2::ETV1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(7;21)(p21;q22) which fuses the 5' end of the TMPRSS2 gene with exon 4 of the ETV1 gene. This rearrangement is associated with prostate carcinoma and androgen-dependent expression of this fusion gene results in overexpression of ETS translocation variant 1 protein activity.;

NCI Metathesaurus CUI : CL433245;

Détails

Origin ID

C99517;

UMLS CUI

C5574992;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 1 [OMIM gene]
- Transmembrane serine protease 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Transmembrane serine protease 2 [OMIM gene]
- transmembrane serine protease 2 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_has_abnormality
- ETS Family Gene Rearrangement [NCIt concept]
related_to_genetic_biomarker
- ETV1 Gene [NCIt concept]
- TMPRSS2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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