BRPF1 Chromosome 3
Bromodomain and PHD finger containing 1
Upload your DNA to see your personal genotypes for variants in BRPF1.
What This Gene Does
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]
Gene Info
Gene Group
"PHD finger proteins|PWWP domain containing|Bromodomain containing"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000156983
Associated Conditions (8)
Intellectual developmental disorder with dysmorphic facies and ptosis
Inborn genetic diseases
Neurodevelopmental disorder
BRPF1-related disorder
Sudden unexplained death in childhood
Global developmental delay
Intellectual disability
See cases
Key Variants
RS1359599082
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS1553695038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374585008
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755029735
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS762904815
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases
Health Risk
RS781638484
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS1553697341
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS1559662068
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS1559662077
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS2076901423
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS2076994968
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
RS2077062359
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2076997522 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2077000019 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2077001976 | Health Risk | Pathogenic | — |
| RS2077071992 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2077100499 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2125500187 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis, BRPF1-related disorder |
| RS2125500524 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2125504232 | Health Risk | Pathogenic | — |
| RS2125504267 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2125507908 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2125508404 | Health Risk | Pathogenic | See cases, See cases |
| RS2125511510 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2125513364 | Health Risk | Pathogenic | — |
| RS2125514693 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471447399 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471447986 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471448650 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471469955 | Health Risk | Pathogenic | BRPF1-related disorder, BRPF1-related disorder |
| RS2471470636 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2471470926 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471470951 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471485111 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2471496829 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2471501529 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471501626 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2471502469 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471506555 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2471519931 | Health Risk | Pathogenic | — |
| RS759029777 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS886041090 | Health Risk | Pathogenic | Intellectual disability, Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual disability |
| RS1057519513 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, See cases, Intellectual developmental disorder with dysmorphic facies and ptosis |
| RS2076988126 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2125501418 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis |