ACTG1/MITF Fusion Gene

Preferred Label : ACTG1/MITF Fusion Gene;

NCIt synonyms : Actin Gamma 1-Melanocyte Inducing Transcription Factor Fusion Gene; ACTG1-MITF Fusion Gene; ACTG1::MITF Fusion Gene; Actin Gamma 1::Melanocyte Inducing Transcription Factor Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(3;17)(p14;q25) that fuses the first 3 exons of the ACTG1 gene in frame with exon 3 or 4 of the MITF gene. This fusion is associated with a subset of clear cell neoplasms with melanocytic differentiation characterized by MITF pathway activation. Expression of this fusion may also be associated with a subset of clear cell renal carcinoma.;

NCIt note : The ACTG1/MITF fusion was characterized using RNAseq; the fusion protein has not been characterized.;

NCI Metathesaurus CUI : CL1926968;

PubMed : 25401301; 33264137;

Details

Origin ID

C204752;

UMLS CUI

C5909961;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_involved_in_pathogenesis_of_disease
- Clear Cell Tumor with Melanocytic Differentiation and ACTG1-MITF Translocation [NCIt concept]
- Clear Cell Tumor with Melanocytic Differentiation and ACTIN-MITF Translocation [NCIt concept]
gene_mapped_to_disease
- Clear Cell Tumor with Melanocytic Differentiation and ACTG1-MITF Translocation [NCIt concept]
related_to_genetic_biomarker
- ACTG1 Gene [NCIt concept]
- MITF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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