SETD1A
Chr 16ADSET domain containing 1A, histone lysine methyltransferase
Also known as: EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A
This protein is a histone methyltransferase that catalyzes mono-, di-, and trimethylation of histone H3 at lysine 4, a chromatin modification that marks transcription start sites of active genes. Loss-of-function mutations cause autosomal dominant early-onset epilepsy with or without developmental delay, and neurodevelopmental disorder with speech impairment and dysmorphic facies. The pathogenic mechanism involves haploinsufficiency disrupting normal gene transcription regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
SETD1A · 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