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EWSR1/FLI1 Fusion Gene

Go to external page http://purl.obolibrary.org/obo/NCIT_C99202

A fusion gene that results from a chromosomal translocation t(11;22)(q24;q12) which fuses the first seven or ten exons of the EWSR1 gene with exon 5, 6 or 8 of the FLI1 gene. This rearrangement is associated with Ewing tumor/peripheral primitive neuroectodermal tumor. [ ]

Term info

Label

EWSR1/FLI1 Fusion Gene

Synonyms
  • EWS-FLI1 Fusion Gene
  • EWS/FLI1 Fusion Gene
  • EWSR1-FLI1 Fusion Gene
  • EWSR1/FLI1 Fusion Gene
  • FLI1/EWS Fusion Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

The EWSR1/FLI1 fusion gene is found in 85% of cases of Ewing tumors. In the most common fusion (type 1), exon 7 of the EWSR1 gene is fused in frame to exon 6 of the FLI1 gene; in type 2, EWSR1 exon 7 is fused in frame to FLI1 exon 5. (Atlas of Genetics and Cytogenetics in Oncology and Haematology)

Display Name

EWSR1/FLI1 Fusion Gene

Preferred Name

EWSR1/FLI1 Fusion Gene

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C18322, http://purl.obolibrary.org/obo/NCIT_C18321

Semantic Type

Gene or Genome

UMLS CUI

C1860425

code

C99202