MITF/CREM Fusion Gene

Preferred Label : MITF/CREM Fusion Gene;

NCIt synonyms : Melanocyte Inducing Transcription Factor::cAMP Responsive Element Modulator Fusion Gene; MITF::CREM Fusion Gene; Melanocyte Inducing Transcription Factor-cAMP Responsive Element Modulator Fusion Gene; MITF-CREM Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation involving the short arms of chromosomes 3 (3p) and 10 (10p) that fuses the first 6 exons of the MITF gene in frame with exon 6 or 7 of the CREM gene. This fusion is associated with a subset of clear cell neoplasms with melanocytic differentiation characterized by MITF pathway activation.;

NCIt note : The MITF/CREM fusion was characterized using RNAseq; the fusion protein has not been characterized. Additionally, the reciprocal fusion was also detected, but appeared to be expressed at lower levels.;

NCI Metathesaurus CUI : CL1926967;

PubMed : 37057373; 33462743;

Details

Origin ID

C204753;

UMLS CUI

C5909962;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_involved_in_pathogenesis_of_disease
- Clear Cell Tumor with Melanocytic Differentiation and MITF-CREM Translocation [NCIt concept]
gene_mapped_to_disease
- Clear Cell Tumor with Melanocytic Differentiation and MITF-CREM Translocation [NCIt concept]
related_to_genetic_biomarker
- CREM Gene [NCIt concept]
- MITF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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