ETV6/ACSL6 Fusion Gene

Preferred Label : ETV6/ACSL6 Fusion Gene;

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

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;12)(q31;p13) which fuses exon 1 of the ETV6 gene out-of-frame to either exon 1 or exon 11 or to the 3' untranslated region of the ACSL6 gene. This rearrangement was observed in one patient with refractory anemia with excess blasts with basophilia, one patient with acute myelogenous leukemia with eosinophilia, and one patient with acute eosinophilic leukemia;

PubMed : 10502316;

Details

Origin ID

C99415;

UMLS CUI

C3274723;

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]
related_to_genetic_biomarker
- ACSL6 Gene [NCIt concept]
- ETV6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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