BRPF1

Chr 3AD

bromodomain and PHD finger containing 1

Also known as: BR140, IDDDFP

NCBI Gene: 7862 ENSG00000156983 UniProt: P55201 OMIM: 602410

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with dysmorphic facies and ptosisMIM #617333

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — BRPF1