COL1A1/USP6 Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(17;17)(p13;q12) which fuses the exon 1 of the COL1A1 gene upstream of a splicing variant of exon 1 of the USP6 gene. This rearrangement is associated with myositis ossificans, fibro-osseous pseudotumor of digits, and aneurysmal bone cyst and expression of this fusion gene results in overexpression of the ubiquitin carboxyl-terminal hydrolase 6 protein.

**Synonyms:** - COL1A1-USP6 Fusion Gene - COL1A1::USP6 Fusion Gene - Collagen Type I Alpha 1 Chain-Ubiquitin Specific Peptidase 6 Fusion Gene - Collagen Type I Alpha 1 Chain/Ubiquitin Specific Peptidase 6 Fusion Gene