MALAT1/TFEB Fusion Gene

Preferred Label : MALAT1/TFEB Fusion Gene;

NCIt synonyms : MALAT1-TFEB Fusion Gene; ALPHA/TFEB Fusion Gene; ALPHA-TFEB Fusion Gene; MALAT1::TFEB Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(6;11)(p21;q12) which fuses the MALAT1 gene to the entire coding sequence of the TFEB gene. This rearrangement is associated with renal cell carcinoma.;

NCIt note : The MALAT1 gene product is a noncoding RNA. Thus, the MALAT1/TFEB fusion gene results in aberrant expression of the transcription factor EB protein rather than encoding a fusion protein.;

Details

Origin ID

C99829;

UMLS CUI

C1842809;

Automatic exact mappings (from CISMeF team)
- Metastasis-associated lung adenocarcinoma transcript 1 [OMIM gene]
- T-cell transcription factor eb [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_involved_in_molecular_abnormality
- TFEB Protein Overexpression [NCIt concept]
- t(6;11)(p21;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- TFEB-Rearranged Renal Cell Carcinoma [NCIt concept]
gene_mapped_to_disease
- TFEB-Rearranged Renal Cell Carcinoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- MALAT1 Gene [NCIt concept]
- TFEB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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