This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.34
Gscore (Del):
0.11
Recurrently amplified in 1 cancer type(s)
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.54 (Driver)
Recurrently mutated in 3 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
24 (Driver)
Fusions detected in 12 cancer type(s)
Overall
Tissue specific
Functional class:
Epigenetic
JensenLab PubMed score:
142.47 (Percentile rank: 77.46%)
PubTator score:
167.22 (Percentile rank: 83.99%)
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):
N/A
Tractability (antibody):
Predicted Tractable - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence
