RAD51B/HMGA2 Fusion Gene

Preferred Label : RAD51B/HMGA2 Fusion Gene;

NCIt synonyms : RAD51L1-HMGA2 Fusion Gene; RAD51L1/HMGA2 Fusion Gene; RAD51B-HMGA2 Fusion Gene; RAD51L1-HMGIC Fusion Gene; RAD51L1/HMGIC Fusion Gene; RAD51B::HMGA2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;14)(q14-15;q22-24) which fuses exon 5, 7, 9 or 10 of the RAD51B gene to exon 2, 4 or 5 of the HMGA2 gene. This rearrangement is associated with uterine leiomyoma.;

NCIt note : Some of the variants of the RAD51B/HMGA2 fusion gene are out of frame and do not produce a fusion protein.;

PubMed : 9892177;

Details

Origin ID

C99580;

UMLS CUI

C3484353;

Automatic exact mappings (from CISMeF team)
- High mobility group at-hook 2 [OMIM gene]
- Rad51 paralog b [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
- RAD51B/HMGA2 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- HMGA2 Gene [NCIt concept]
- RAD51B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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