DPY30
Chr 2dpy-30 histone methyltransferase complex regulatory subunit
Also known as: Cps25, HDPY-30, Saf19
The protein is a core subunit of SET1/MLL histone methyltransferase complexes that methylates histone H3 at lysine 4, an epigenetic mark for transcriptional activation, and regulates cell cycle progression and hematopoietic cell differentiation. Mutations cause intellectual disability with seizures and variable dysmorphic features, following an autosomal dominant inheritance pattern. The gene shows relatively low constraint to loss-of-function variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
44 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 | 26 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 5 | 8 | 0 | 13 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 5 | 37 | 0 | 42 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DPY30 · 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