BRD3

bromodomain containing 3, the group of Bromodomain and extra-terminal domain family|Bromodomain containing

Basic information

Region (hg38): 9:134030305-134068535

Links

ENSG00000169925

∙ NCBI:8019 ∙ OMIM:601541 ∙ HGNC:1104 ∙ Uniprot:Q15059 ∙ 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 BRD3 gene.

not_specified (64 variants)
not_provided (4 variants)
Premature_ovarian_failure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRD3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007371.4. 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					2 clinvar	2
missense			60 clinvar	5 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	5	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRD3	protein_coding	protein_coding	ENST00000303407	11	38231

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.975	0.0253	125707	0	10	125717	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.64	302	461	0.655	0.0000301	4718
Missense in Polyphen		89	191.45	0.46487		2009
Synonymous	-1.16	227	206	1.10	0.0000161	1417
Loss of Function	4.30	4	28.9	0.138	0.00000132	381

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.000118	0.0000924
European (Non-Finnish)	0.0000362	0.0000352
Middle Eastern	0.000110	0.000109
South Asian	0.0000658	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Chromatin reader that recognizes and binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling and interaction with transcription factors (PubMed:18406326, PubMed:27105114). Regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity). {ECO:0000250|UniProtKB:Q8K2F0, ECO:0000269|PubMed:18406326, ECO:0000269|PubMed:27105114}.;
Disease: DISEASE: Note=A chromosomal aberration involving BRD3 is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;9)(q14;q34) with NUT which produces a BRD3-NUT fusion protein. {ECO:0000269|PubMed:17934517}.;
Pathway: Chemical Compounds to monitor Proteins (Consensus)

Recessive Scores

pRec: 0.181

Intolerance Scores

loftool: 0.226
rvis_EVS: -0.71
rvis_percentile_EVS: 14.78

Haploinsufficiency Scores

pHI: 0.481
hipred: Y
hipred_score: 0.728
ghis: 0.546

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.792

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Brd3
Phenotype

Zebrafish Information Network

Gene name: brd3a
Affected structure: thrombocyte
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: chromatin organization;regulation of transcription by RNA polymerase II
Cellular component: nucleus
Molecular function: chromatin binding;protein binding;lysine-acetylated histone binding