ETV6/JAK2 Fusion Gene

Preferred Label : ETV6/JAK2 Fusion Gene;

NCIt synonyms : JAK2/ETV6 Fusion Gene; ETV6-JAK2 Fusion Gene; TEL/JAK2 Fusion Gene; TEL-JAK2 Fusion Gene; ETV6::JAK2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(9;12)(p24;p13) which fuses the 5' half of the ETV6 gene to the 3' portion of the JAK2 gene. This fusion is associated with acute myeloid and lymphoid leukemias.;

Details

Origin ID

C99416;

UMLS CUI

C3275266;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 6 [OMIM gene]
- Janus kinase 2 [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
- ETV6/JAK2 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(9;12)(p24;p13) [NCIt concept]
gene_involved_in_molecular_abnormality
- ETV6-JAK2 Fusion Protein Expression [NCIt concept]
- t(9;12)(p24;p13) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Philadelphia Chromosome Negative BCR-ABL1 Negative Chronic Myelogenous Leukemia [NCIt concept]
gene_mapped_to_disease
- Philadelphia Chromosome Negative BCR-ABL1 Negative Chronic Myelogenous Leukemia [NCIt concept]
gene_plays_role_in_process
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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