Terminology Service for NFDI4Health

SPECC1/PDGFRB Fusion Gene

Go to external page http://purl.obolibrary.org/obo/NCIT_C99833


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. [ ]

Term info

Label

SPECC1/PDGFRB Fusion Gene

Synonyms
  • CYTSB/PDGFRB Fusion Gene
  • HCMOGT-1-PDGFRB Fusion Gene
  • HCMOGT-1/PDGFRB Fusion Gene
  • HCMOGT/PDGFRB Fusion Gene
  • HCMOGT1/PDGFRB Fusion Gene
  • SPECC1-PDGFRB Fusion Gene
  • SPECC1/PDGFRB Fusion Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

SPECC1/PDGFRB Fusion Gene

Preferred Name

SPECC1/PDGFRB Fusion Gene

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C24667, http://purl.obolibrary.org/obo/NCIT_C97531

Semantic Type

Gene or Genome

UMLS CUI

C1837419

code

C99833