SETD6
Chr 16SET domain containing 6, protein lysine methyltransferase
This gene encodes a methyltransferase that monomethylates histone H2AZ and the RELA subunit of NF-kappa-B, thereby regulating transcription and maintaining embryonic stem cell self-renewal. Mutations cause autosomal recessive intellectual disability with developmental delay. The gene shows minimal constraint against loss-of-function variants based on population genetic data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
168 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 19 | 0 | 20 |
Likely Pathogenic | 0 | 2 | 4 | 0 | 6 |
VUS | 2 | 99 | 9 | 0 | 110 |
Likely Benign | 0 | 4 | 7 | 7 | 18 |
Benign | 0 | 0 | 2 | 2 | 4 |
| Total | 3 | 105 | 41 | 9 | 158 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SETD6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools