CBFB/MYH11 Fusion Gene

Preferred Label : CBFB/MYH11 Fusion Gene;

NCIt synonyms : CBFbeta/SMMHC Fusion Gene; CBFb-MYH11 Fusion Gene; CBFbeta-MYH11 Fusion Gene; CBFbeta-SMMHC Fusion Gene; CBFB::MYH11 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal inversion inv(16)(p13q22) which fuses the 5' portion of the CBFB gene with the 3' part of the MYH11 gene. This rearrangement is associated with acute myeloid leukemia and myelodysplastic syndrome.;

NCIt note : The CBFB/MYH11 fusion gene can result from other chromosomal aberrations involving chromosome 16, including t(16;16)(p13;q22), and del(16)(q22). This fusion gene is associated with a better prognosis than other acute myeloid leukemia-related fusions. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C101051;

UMLS CUI

C3276534;

Automatic exact mappings (from CISMeF team)
- Core-binding factor, beta subunit [OMIM gene]
- Myosin, heavy chain 11, smooth muscle [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
- CBFB/MYH11 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- CBFB-MYH11 Fusion Protein Expression [NCIt concept]
- inv(16)(p13.1;q22) [NCIt concept]
- t(16;16)(p13.1;q22) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Acute Myeloid Leukemia with inv(16)(p13.1q22); CBFB-MYH11 [NCIt concept]
- Acute Myeloid Leukemia with t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Adult Acute Myeloid Leukemia with inv(16)(p13.1q22); CBFB-MYH11 [NCIt concept]
- Adult Acute Myeloid Leukemia with t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Repression [NCIt concept]
genetic_biomarker_related_to
- inv(16)(p13.1;q22.1)(MYH11/CBFB) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]
related_to_genetic_biomarker
- CBFB Gene [NCIt concept]
- MYH11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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