BRD8
bromodomain containing 8, the group of Bromodomain containing|Tip60/Nua4 histone acetyltransferase complex subunits
Basic information
Region (hg38): 5:138139770-138178953
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRD8 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 41 | 44 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 41 | 0 | 3 |
Variants in BRD8
This is a list of pathogenic ClinVar variants found in the BRD8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-138140146-G-T | not specified | Uncertain significance (Jan 02, 2024) | ||
| 5-138140812-G-C | not specified | Uncertain significance (Oct 03, 2022) | ||
| 5-138145198-C-A | not specified | Uncertain significance (Sep 27, 2021) | ||
| 5-138145223-G-C | Benign (Feb 26, 2018) | |||
| 5-138145841-A-C | Benign (Dec 31, 2019) | |||
| 5-138149668-G-T | not specified | Uncertain significance (Dec 14, 2021) | ||
| 5-138149730-T-C | not specified | Uncertain significance (Apr 19, 2023) | ||
| 5-138149752-A-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 5-138150770-T-C | not specified | Uncertain significance (May 21, 2024) | ||
| 5-138150927-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
| 5-138152562-C-A | not specified | Uncertain significance (Feb 05, 2024) | ||
| 5-138152588-G-A | not specified | Uncertain significance (Mar 07, 2024) | ||
| 5-138152591-C-G | not specified | Uncertain significance (Jun 27, 2022) | ||
| 5-138152606-T-C | not specified | Uncertain significance (Mar 20, 2024) | ||
| 5-138152646-C-A | not specified | Uncertain significance (Jul 14, 2021) | ||
| 5-138152651-A-G | Benign (Dec 31, 2019) | |||
| 5-138152745-C-T | not specified | Uncertain significance (Jan 22, 2024) | ||
| 5-138161052-T-C | not specified | Uncertain significance (Oct 06, 2021) | ||
| 5-138163200-T-C | not specified | Uncertain significance (Apr 13, 2022) | ||
| 5-138163301-G-A | not specified | Uncertain significance (Mar 20, 2023) | ||
| 5-138164131-A-C | not specified | Uncertain significance (May 24, 2023) | ||
| 5-138164367-A-G | not specified | Uncertain significance (Oct 03, 2022) | ||
| 5-138164409-G-A | not specified | Uncertain significance (Sep 28, 2021) | ||
| 5-138164724-A-G | not specified | Uncertain significance (May 26, 2023) | ||
| 5-138164779-T-C | not specified | Uncertain significance (Dec 27, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BRD8 | protein_coding | protein_coding | ENST00000254900 | 27 | 39221 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.56e-7 | 1.00 | 125686 | 1 | 60 | 125747 | 0.000243 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.03 | 446 | 666 | 0.670 | 0.0000333 | 8120 |
| Missense in Polyphen | 81 | 204.3 | 0.39647 | 2453 | ||
| Synonymous | 0.349 | 227 | 234 | 0.971 | 0.0000119 | 2385 |
| Loss of Function | 4.75 | 24 | 65.5 | 0.367 | 0.00000351 | 761 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000922 | 0.0000905 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000383 | 0.000381 |
| Finnish | 0.000100 | 0.0000924 |
| European (Non-Finnish) | 0.000132 | 0.000132 |
| Middle Eastern | 0.000383 | 0.000381 |
| South Asian | 0.00112 | 0.00108 |
| Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1- like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. {ECO:0000269|PubMed:10517671, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:24463511}.;
- Pathway
- Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization
(Consensus)
Recessive Scores
- pRec
- 0.115
Intolerance Scores
- loftool
- 0.870
- rvis_EVS
- 0.16
- rvis_percentile_EVS
- 64.92
Haploinsufficiency Scores
- pHI
- 0.173
- hipred
- Y
- hipred_score
- 0.618
- ghis
- 0.546
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.815
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Brd8
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;signal transduction;cell surface receptor signaling pathway;intracellular receptor signaling pathway;regulation of growth;histone H4 acetylation;histone H2A acetylation;positive regulation of transcription by RNA polymerase II
- Cellular component
- Swr1 complex;nucleus;nucleoplasm;mitochondrion;NuA4 histone acetyltransferase complex
- Molecular function
- DNA-binding transcription factor activity;nuclear receptor activity