BRPF3

Chr 6

bromodomain and PHD finger containing 3

NCBI Gene: 27154ENSG00000096070UniProt: Q9ULD4

Contributes to histone acetyltransferase activity. Involved in positive regulation of DNA replication. Located in nucleus. Part of MOZ/MORF histone acetyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.18
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.18LOEUF
pLI 1.000
Z-score 5.72
OE 0.07 (0.03–0.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.91Z-score
OE missense 0.70 (0.65–0.75)
516 obs / 738.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.07 (0.03–0.18)
0≤0.351.4
Missense OE?0.70 (0.65–0.75)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 3 / 43.9Missense obs/exp: 516 / 738.2Syn Z: 1.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BRPF3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients