BRPF1 bromodomain and PHD finger containing 1
Gene ID: 7862, updated on 17-Aug-2024Gene type: protein coding
Also known as: BR140; IDDDFP
- See all available tests in GTR for this gene
- Go to complete Gene record for BRPF1
- Go to Variation Viewer for BRPF1 variants
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
Copy number response
Description |
---|
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-23) ClinGen Genome Curation PagePubMedTriplosensitivity 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
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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