Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.71 (Driver)
Recurrently deleted in 4 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
1.18 (Driver)
Recurrently mutated in 8 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
18 (Driver)
Fusions detected in 8 cancer type(s)
Overall
Tissue specific
CRISPR: COMMON ESSENTIAL
Functional class:
Epigenetic
JensenLab PubMed score:
645.32 (Percentile rank: 92.70%)
PubTator score:
235.62 (Percentile rank: 87.56%)
Target development/druggability level:
TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
