ACTB/MITF Fusion Gene

Preferred Label : ACTB/MITF Fusion Gene;

NCIt synonyms : ACTB::MITF Fusion Gene; ACTB-MITF Fusion Gene; Actin Beta-Melanocyte Inducing Transcription Factor Fusion Gene; Actin Beta::Melanocyte Inducing Transcription Factor Fusion Gene;

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

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

NCI Metathesaurus CUI : CL1926969;

PubMed : 33264137;

Details

Origin ID

C204751;

UMLS CUI

C5909960;

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

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients