ACSL6/ETV6 Fusion Gene

Preferred Label : ACSL6/ETV6 Fusion Gene;

NCIt synonyms : FACL6/ETV6 Fusion Gene; ACS2/ETV6 Fusion Gene; ACSL6-ETV6 Fusion Gene; ACS2-ETV6 Fusion Gene; FACL6-ETV6 Fusion Gene; ACSL6::ETV6 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;12)(q31;p13) which fuses the 5' portion of the ACSL6 gene and the 3' portion of the ETV6 gene. In a patient with acute myelogenous leukemia with eosinophilia, this rearrangement fused exons 1-9 of the ACSL6 gene to either intron 2 or exon 3 of the ETV6 gene and does not produce a fusion protein. In one patient with refractory anemia with excess blasts with basophilia, this rearrangement fused exon 19 of the ACSL6 gene with a site within exon 1 of the ETV6 gene and could result in the production of a fusion protein.;

PubMed : 10502316;

Details

Origin ID

C99676;

UMLS CUI

C3274862;

Automatic exact mappings (from CISMeF team)
- Acyl-coa synthetase long chain family, member 6 [OMIM gene]
- Ets variant transcription factor 6 [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_encodes_gene_product
- ACSL6/ETV6 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- ACSL6 Gene [NCIt concept]
- ETV6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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