BRPF1 bromodomain and PHD finger containing 1

Gene ID: 7862, updated on 12-Nov-2024
Gene type: protein coding
Also known as: BR140; IDDDFP

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual developmental disorder with dysmorphic facies and ptosis MedGen: C4310617OMIM: 617333GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-23) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-08-23) ClinGen Genome Curation Page

Genomic context

Location:: 3p25.3

Sequence:: Chromosome: 3; NC_000003.12 (9731735..9748015)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BRPF1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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