This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.14
Gscore (Del):
0.00
Recurrently amplified in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.09
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
9
Fusions detected in 7 cancer type(s)
Overall
Tissue specific
CRISPR: COMMON ESSENTIAL
Functional class:
Enzyme
JensenLab PubMed score:
83.29 (Percentile rank: 69.97%)
PubTator score:
61.04 (Percentile rank: 70.92%)
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.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands