This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.76 (Driver)
Gscore (Del):
0.16
Recurrently amplified in 1 cancer type(s)
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.12 (Driver)
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
12
Fusions detected in 8 cancer type(s)
Overall
Tissue specific
Functional class:
Epigenetic
JensenLab PubMed score:
58.11 (Percentile rank: 64.85%)
PubTator score:
83.00 (Percentile rank: 75.21%)
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.