BRD1

Chr 22

bromodomain containing 1

Also known as: BRL, BRPF2

NCBI Gene: 23774 ENSG00000100425 UniProt: O95696

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.

ResearchSummary from RefSeq, UniProt

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]

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.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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