SETD1B
Chr 12ADSET domain containing 1B, histone lysine methyltransferase
Also known as: IDDSELD, KMT2G, Set1B
SETD1B encodes a histone methyltransferase that catalyzes trimethylation of histone H3 at lysine 4 (H3K4me3), a chromatin modification essential for active gene transcription and DNA repair. Mutations cause autosomal dominant intellectual developmental disorder with seizures and language delay. The gene is highly constrained against loss-of-function variants (pLI = 1.0), reflecting its critical role in transcriptional regulation during development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SETD1B · 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
External Resources
Links to major genomics databases and tools