PIK3R2/USP8 Fusion Gene

Preferred Label : PIK3R2/USP8 Fusion Gene;

NCIt synonyms : PIK3R2-USP8 Fusion Gene; p85-beta/HUMORF8 Fusion Gene; USP8/PIK3R2 Fusion Gene; p85-beta-HUMORF8 Fusion Gene; PIK3R2::USP8 Fusion Gene;

NCIt definition : A fusion gene that results from a rearrangement of chromosomes 15 and 19 which fuses the 5' end of the PIK3R2 gene to the 3' end of the USP8 gene. This rearrangement may be associated with chronic myeloproliferative disorder.;

NCIt note : This fusion gene may also harbor a PIK3R2 gene variant that substitutes an alanine for a serine in a site that regulates the lipid kinase activity of the phosphatidylinositol 3-kinase regulatory subunit alpha protein. (Oncogene. 1998; 16: 1767-1772.);

PubMed : 9582025;

Details

Origin ID

C99587;

UMLS CUI

C1864176;

Automatic exact mappings (from CISMeF team)
- Ubiquitin-specific protease 8 [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
- PIK3R2/USP8 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- PIK3R2 Gene [NCIt concept]
- USP8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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