ETV6/MDS2 Fusion Gene

Preferred Label : ETV6/MDS2 Fusion Gene;

NCIt synonyms : ETV6-MDS2 Fusion Gene; MDS2/ETV6 Fusion Gene; ETV6::MDS2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(1;12)(p36;p13) which fuses exons 1 and 2 of the ETV6 gene to exons 6 and 7 of the MDS2 gene. This fusion may be associated with myeloid disorders.;

NCIt note : The ETV6/MDS2 fusion gene has been observed in one case of chronic myelogenous leukemia with t(9;22). (Atlas of Genetics and Cytogenetics in Oncology and Haematology); The protein product of the ETV6/MDS2 fusion gene is a truncated form of the transcription factor ETV6 protein.;

Details

Origin ID

C99409;

UMLS CUI

C1846519;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 6 [OMIM gene]
- Mds2 gene [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
- ETV6 Gene [NCIt concept]
- MDS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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