This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
1.49 (Driver)
Recurrently deleted in 5 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
1.18 (Driver)
Recurrently mutated in 6 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
8
Fusions detected in 4 cancer type(s)
Overall
Tissue specific
CRISPR: COMMON ESSENTIAL
Functional class:
Enzyme
JensenLab PubMed score:
132.31 (Percentile rank: 76.43%)
PubTator score:
226.09 (Percentile rank: 87.12%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
