PRCC/TFE3 Fusion Gene

Preferred Label : PRCC/TFE3 Fusion Gene;

NCIt synonyms : PRCC-TFE3 Fusion Gene; PRCC::TFE3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(X;1)(p11.2;q21.2) which fuses the 5' half of the PRCC gene to exon 2 of the TFE3 gene. This rearrangement is associated with papillary renal cell carcinoma.;

NCIt note : The normal TFE3 transcript is lost in female patients. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99376;

UMLS CUI

C5574963;

Automatic exact mappings (from CISMeF team)
- Proline-rich mitotic checkpoint control factor [OMIM gene]
- Transcription factor for immunoglobulin heavy-chain enhancer 3 [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
- PRCC/TFE3 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(X;1)(p11.2;q21) [NCIt concept]
gene_involved_in_molecular_abnormality
- PRCC-TFE3 Fusion Protein Expression [NCIt concept]
- t(X;1)(p11.2;q21) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) [NCIt concept]
gene_mapped_to_disease
- Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) [NCIt concept]
related_to_genetic_biomarker
- PRCC Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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