EPC1
Chr 10enhancer of polycomb 1
Also known as: Epl1
The EPC1 protein is a component of the NuA4 histone acetyltransferase complex that acetylates histones H4 and H2A to regulate gene transcription and plays a direct role in DNA double-strand break repair through homologous recombination. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, behavioral abnormalities, and variable features including seizures and autism spectrum disorder. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic when they occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
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
105 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 | 0 | 0 | 11 | 0 | 11 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 2 | 68 | 3 | 0 | 73 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 2 | 70 | 16 | 1 | 89 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EPC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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