BRD1

Chr 22

bromodomain containing 1

ENSG00000100425 UniProt: O95696 OMIM: 604589

This gene encodes a bromodomain-containing protein that serves as a scaffold subunit of histone acetyltransferase complexes and regulates gene expression by directing histone H3 acetylation, particularly in hematopoiesis and erythroid differentiation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.245), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis (PubMed:16387653, PubMed:21753189, PubMed:21880731). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac), thereby promoting erythroid differentiation (PubMed:21753189)

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.24

Clinical Summary— BRD1

⚡

Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.24LOEUF

pLI 0.999

Z-score 5.64

OE 0.12 (0.07–0.24)

Highly constrained

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

Missense Constraint?

2.76Z-score

OE missense 0.71 (0.66–0.76)

501 obs / 707.6 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.12 (0.07–0.24)

0≤0.351.4

Missense OE?0.71 (0.66–0.76)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 6 / 48.3Missense obs/exp: 501 / 707.6Syn Z: -2.34

This gene — mechanism propensity

0.3793th %ile

GOF

0.3590th %ile

LOF

0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.24

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.