BRD1

Chr 22

bromodomain containing 1

Also known as: BRL, BRPF2

NCBI Gene: 23774ENSG00000100425UniProt: O95696

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

324
ClinVar variants
136
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
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.
📋
ClinVar Variants
136 Pathogenic / Likely Pathogenic· 136 VUS of 324 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
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?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.12 (0.07–0.24)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.71 (0.66–0.76)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17
0≤1.21.6
LoF obs/exp: 6 / 48.3Missense obs/exp: 501 / 707.6Syn Z: -2.34

ClinVar Variant Classifications

324 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic134
Likely Pathogenic2
VUS136
Likely Benign22
Benign12
134
Pathogenic
2
Likely Pathogenic
136
VUS
22
Likely Benign
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
134
0
134
Likely Pathogenic
0
0
2
0
2
VUS
0
95
41
0
136
Likely Benign
0
6
2
14
22
Benign
0
5
1
6
12
Total010618020306

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BRD1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Expression Characteristics and Clinical Correlations of BRD1 in Colorectal Cancer Samples.
Li Z et al.·Technol Cancer Res Treat
2021
DNA Methylation Analysis of BRD1 Promoter Regions and the Schizophrenia rs138880 Risk Allele.
Dyrvig M et al.·PLoS One
2017
Further immunohistochemical characterization of BRD1 a new susceptibility gene for schizophrenia and bipolar affective disorder.
Bjarkam CR et al.·Brain Struct Funct
2009
Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.
Garcia FAO et al.·Cold Spring Harb Mol Case Stud
2023
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.
Mitz AR et al.·Clin Genet
2024Review
Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.
Boccuto L et al.·Genes (Basel)
2022
Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1(+/-) mice.
Qvist P et al.·Sci Rep
2018
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.·Breast Cancer Res
2021Functional
Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia.
Shah S et al.·Genes (Basel)
2023
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions.
Tolomeo D et al.·Cancer Genet
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
KAT6A acetyltransferase accelerates colorectal cancer progression through upregulating BRD1 protein expression via acetylation modification.
Liang Y et al.·Cancer Cell Int
2025🔓 Open Access
BRD1 deficiency affects SREBF1-related lipid metabolism through regulating H3K9ac/H3K9me3 transition to inhibit HCC progression.
Zhang M et al.·Cell Death Dis
2025🔓 Open Access
NIT2 dampens BRD1 phase separation and restrains oxidative phosphorylation to enhance chemosensitivity in gastric cancer.
Wang Z et al.·Sci Transl Med
2024
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation.
Paternoster V et al.·Transl Psychiatry
2022🔓 Open Access
Inactivation of the Schizophrenia-associated BRD1 gene in Brain Causes Failure-to-thrive, Seizure Susceptibility and Abnormal Histone H3 Acetylation and N-tail Clipping.
Paternoster V et al.·Mol Neurobiol
2021
Top 5 resultsSearch Europe PMC ↗

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