JADE1
Chr 4jade family PHD finger 1
Also known as: PHF17
The JADE1 protein functions as a scaffold subunit of histone acetyltransferase complexes that acetylate histone H4, regulating DNA replication initiation and promoting apoptosis. Mutations cause autosomal dominant intellectual disability with seizures and dysmorphic features, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
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
110 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 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 74 | 3 | 0 | 77 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 1 | 2 | 2 | 5 |
| Total | 0 | 75 | 32 | 2 | 109 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
JADE1 · 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