SPECC1/PDGFRB Fusion Gene

Preferred Label : SPECC1/PDGFRB Fusion Gene;

NCIt synonyms : CYTSB/PDGFRB Fusion Gene; HCMOGT-1/PDGFRB Fusion Gene; HCMOGT/PDGFRB Fusion Gene; HCMOGT1/PDGFRB Fusion Gene; HCMOGT-1-PDGFRB Fusion Gene; SPECC1-PDGFRB Fusion Gene; SPECC1::PDGFRB Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;17)(q33;p11.2) which fuses the 5' portion of the SPECC1 gene to the 3' portion of the PDGFRB gene. This rearrangement is associated with juvenile myelomonocytic leukemia.;

Details

Origin ID

C99833;

UMLS CUI

C1837419;

Automatic exact mappings (from CISMeF team)
- Sperm antigen with calponin homology and coiled-coil domains 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
- SPECC1/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]
- SPECC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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