BRD8

bromodomain containing 8, the group of Bromodomain containing|Tip60/Nua4 histone acetyltransferase complex subunits

Basic information

Region (hg38): 5:138139770-138178953

Links

ENSG00000112983

∙ NCBI:10902 ∙ OMIM:602848 ∙ HGNC:19874 ∙ Uniprot:Q9H0E9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BRD8 gene.

not_specified (109 variants)
not_provided (4 variants)

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. These statistics are base on transcript: NM_000139199.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			107 clinvar	2 clinvar	3 clinvar	112
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	2	3

Loading clinvar variants...

GnomAD

Source: gnomAD

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: dbNSFP

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