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COL1A1/PDGFB Fusion Gene

Go to external page http://purl.obolibrary.org/obo/NCIT_C99196

A fusion gene that results from a chromosomal translocation t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22) which fuses the COL1A1 gene with exon 2 of the PDGFRB gene. This fusion is associated with Dermatofibrosarcoma protuberans. [ ]

Term info

Label

COL1A1/PDGFB Fusion Gene

Synonyms
  • COL1A1-PDGFB Fusion Gene
  • COL1A1/PDGFB Fusion Gene
  • PDGFB/COL1A1 Fusion Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

There are multiple possible breakpoints for the COL1A1 gene.

Display Name

COL1A1/PDGFB Fusion Gene

Preferred Name

COL1A1/PDGFB Fusion Gene

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C18278, http://purl.obolibrary.org/obo/NCIT_C29949

Semantic Type

Gene or Genome

UMLS CUI

C1861000

code

C99196