BRD4

Chr 19

bromodomain containing 4

Also known as: CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP

NCBI Gene: 23476ENSG00000141867UniProt: O60885

The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCornelia de Lange syndrome 6

Clinical highlights

Gene-disease validity (ClinGen)
syndromic intellectual disability · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
676
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.05
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — BRD4
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.05LOEUF
pLI 1.000
Z-score 7.27
OE 0.00 (0.00–0.05)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.59Z-score
OE missense 0.64 (0.60–0.69)
519 obs / 805.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.05)
0≤0.351.4
Missense OE?0.64 (0.60–0.69)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 0 / 61.5Missense obs/exp: 519 / 805.3Syn Z: -3.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BRD4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients