SET domain, bifurcated 1

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NCBI Description of SETDB1

This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.

Community Annotation of SETDB1 Add / Edit SETDB1: Annotations

No community annotations yet for SETDB1.
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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


SETDB1 is highly significantly mutated in
SETDB1 is significantly mutated in
combined cohort
70 patients (1%)
SETDB1 is near significance in
Esophageal adenocarcinoma
3 patients (2%)
Chronic lymphocytic leukemia
2 patients (1%)
10 patients (1%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for SETDB1