DIRC3/HSPBAP1 Fusion Gene

Preferred Label : DIRC3/HSPBAP1 Fusion Gene;

NCIt synonyms : DIRC3-HSPBAP1 Fusion Gene; DIRC3::HSPBAP1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;3)(q35;q21) which fuses the first 2 exons of the DIRC3 gene with the second coding exon of the HSPBAP1 gene. This rearrangement is associated with familial renal cell carcinoma.;

NCIt note : The DIRC3 gene product is a non-coding RNA; thus, the DIRC3/HSPBAP1 fusion gene product is an N-terminally truncated form of the HSPB1-associated protein 1. The truncated protein is missing the first 36 amino acids and includes the JmjC and HSP27-interacting domains.;

Details

Origin ID

C99830;

UMLS CUI

C1842347;

Automatic exact mappings (from CISMeF team)
- Disrupted in renal carcinoma 3 [OMIM gene]
- Heat-shock 27-kd protein-associated protein 1 [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]
related_to_genetic_biomarker
- DIRC3 Gene [NCIt concept]
- HSPBAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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