BRPF1
Chr 3ADbromodomain and PHD finger containing 1
Also known as: BR140, IDDDFP
The protein is a component of MOZ/MORF histone acetyltransferase complexes that regulate transcription by binding to catalytic MYST domains and stimulating acetyltransferase activity. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the pathogenic mechanism.
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).
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
BRPF1 · 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