RABEP1/PDGFRB Fusion Gene

Preferred Label : RABEP1/PDGFRB Fusion Gene;

NCIt synonyms : PDGFRB/RABPT5 Fusion Gene; RABPT5/PDGFRB Fusion Gene; RABEP1-PDGFRB Fusion Gene; RABPT5-PDGFRB Fusion Gene; RABEP1::PDGFRB Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;17)(q33;p13) which fuses most of the RABEP1 gene with the 3' part of the PDGFRB gene. This gene fusion is associated with chronic myelomonocytic leukemia.;

Details

Origin ID

C99591;

UMLS CUI

C1868261;

Automatic exact mappings (from CISMeF team)
- Platelet-derived growth factor receptor, beta [OMIM gene]
- Rabaptin, rab gtpase-binding effector 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]
gene_encodes_gene_product
- RABEP1/PDGFRB Fusion Protein [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- PDGFRB Gene [NCIt concept]
- RABEP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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