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FLASH GENE
Symbol USP6 contributors: mct/pgu - updated : 09-02-2015
HGNC name ubiquitin specific protease 6 (Tre-2 oncogene)
HGNC id 12629
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   translocation    
translocated at high frequency in aneurysmal bone cyst (ABC), a pediatric osseous neoplasm
tumoral fusion      
t(16;17)(q22;p13) the most frequent chromosomal aberration with translocation generating a CDH11-USP6 fusion gene in aneurysmal bone cyst
tumoral   translocation    
t(17;17) resulting in a COL1A1-USP6 chimeric gene in aneurysmal bone cyst
tumoral     --over  
attenuated osteoblast maturation caused by USP6 overexpression may contribute to the bone loss/destruction observed in aneurysmal bone cyst
tumoral fusion      
rearrangements of both USP6 and SS18, but histologic features were consistent with aneurysmal bone cyst throughout the lesion
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS