HMGA2/ALDH2 Fusion Gene

Preferred Label : HMGA2/ALDH2 Fusion Gene;

NCIt synonyms : HMGIC-ALDH2 Fusion Gene; ALDH2/HMGIC Fusion Gene; HMGA2-ALDH2 Fusion Gene; HMGIC/ALDH2 Fusion Gene; HMGA2::ALDH2 Fusion Gene;

NCIt definition : A fusion gene that results from paracentric inversion of chromosome 12 which juxtaposes the first 3 exons of the HGMA2 gene with exon 13 and part of the 3' untranslated region of the ALDH2 gene. This fusion is associated with benign uterine leiomyoma.;

NCIt note : The fusion of the 3' untranslated region of the ALDH2 to the shortened HGMA2 gene may contribute to the stabilization of the HMGA2/ALDH2 mRNA transcript. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99428;

UMLS CUI

C1863487;

Automatic exact mappings (from CISMeF team)
- Aldehyde dehydrogenase 2 family [OMIM Phenotype]
- High mobility group at-hook 2 [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
- HMGA2/ALDH2 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- ALDH2 Gene [NCIt concept]
- HMGA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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