TFE3/ASPSCR1 Fusion Gene

Preferred Label : TFE3/ASPSCR1 Fusion Gene;

NCIt synonyms : TFE3-ASPSCR1 Fusion Gene; TFE3::ASPSCR1 Fusion Gene;

NCIt definition : A fusion gene that results from chromosomal translocation t(X;17)(p11.2;q25) or der(X)t(X;17)(p11;q25) which fuses exon 2 or 3 of the TFE gene to the 3' half of the ASPSCR1 gene. This fusion is associated with both alveolar soft part sarcoma and primary renal cell carcinoma.;

NCIt note : The TFE3/ASPSCR1 fusion transcript is found more often in patients with renal cell carcinoma and rarely in patients with alveolar soft part sarcoma.;

Détails

Origin ID

C99685;

UMLS CUI

C1853489;

Automatic exact mappings (from CISMeF team)
- Aspscr1 tether for slc2a4, ubx domain-containing [OMIM gene]
- Transcription factor for immunoglobulin heavy-chain enhancer 3 [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_has_abnormality
- t(X;17)(p11.2;q25) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(X;17)(p11.2;q25) [NCIt concept]
related_to_genetic_biomarker
- ASPSCR1 Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

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

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