NCIt synonyms : Collagen Type I Alpha 1 Chain-Ubiquitin Specific Peptidase 6 Fusion Gene; Collagen Type I Alpha 1 Chain/Ubiquitin Specific Peptidase 6 Fusion Gene; COL1A1-USP6 Fusion Gene; COL1A1::USP6 Fusion Gene;
NCIt 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.;
Semantic type(s)