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EWSR1/PATZ1 Fusion Gene

Go to external page http://purl.obolibrary.org/obo/NCIT_C99238

A fusion gene that results from a chromosomal inversion inv(22)(q12q12) which fuses the first eight exons of the EWSR1 gene with the PATZ1 gene. This rearrangement is associated with Ewing tumor/peripheral primitive neuroectodermal tumor. [ ]

Term info

Label

EWSR1/PATZ1 Fusion Gene

Synonyms
  • EWS-ZNF278 Fusion Gene
  • EWS-ZSG Fusion Gene
  • EWS/ZNF278 Fusion Gene
  • EWS/ZSG Fusion Gene
  • EWSR1-PATZ1 Fusion Gene
  • EWSR1/PATZ1 Fusion Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

The EWSR1/PATZ1 fusion gene also arises in a complex rearrangement where inversion of 22q12 is followed by a translocation t(1;22)(p34;q12) that disrupts the UQCRH gene. PCR analysis of tumor cDNA and genomic DNA detected UQCRH/EWSR1, PATZ1/UQCRH and EWSR1/PATZ1 fusion transcripts. The UQCRH containing fusion genes produced out-of-frame transcripts containing premature stop codons. (OMIM)

Display Name

EWSR1/PATZ1 Fusion Gene

Preferred Name

EWSR1/PATZ1 Fusion Gene

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C18322, http://purl.obolibrary.org/obo/NCIT_C97876

Semantic Type

Gene or Genome

UMLS CUI

C1854595

code

C99238