UQCRH/EWSR1 Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a complex chromosomal rearrangement where inversion of 22q12 is followed by a translocation t(1;22)(p34;q12) that disrupts intron 3 of the UQCRH gene. PCR analysis of tumor cDNA and genomic DNA detected a UQCRH/EWSR1 fusion transcript but it is out-of-frame and contains premature stop codons.

**Synonyms:** - EWS/UQCRH Fusion Gene - UQCRH-EWS Fusion Gene - UQCRH-EWSR1 Fusion Gene - UQCRH/EWS Fusion Gene - UQCRH::EWSR1 Fusion Gene