BRD10

Chr 9

bromodomain containing 10

Also known as: KIAA2026

BRD10 encodes a bromodomain-containing protein predicted to be located in the nucleus, likely involved in chromatin regulation and gene transcription. Mutations in BRD10 cause neurodevelopmental disorders with intellectual disability, often accompanied by seizures and developmental delays. The gene follows autosomal dominant inheritance and shows high constraint against loss-of-function variants (LOEUF 0.336), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq
LOEUF 0.34
Clinical SummaryBRD10
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.66) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
56 unique Pathogenic / Likely Pathogenic· 327 VUS of 413 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.659
Z-score 5.87
OE 0.22 (0.140.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
-4.33Z-score
OE missense 1.38 (1.321.44)
1447 obs / 1052.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.22 (0.140.34)
00.351.4
Missense OE1.38 (1.321.44)
00.61.4
Synonymous OE1.46
01.21.6
LoF obs/exp: 14 / 65.0Missense obs/exp: 1447 / 1052.1Syn Z: -7.12

ClinVar Variant Classifications

413 submitted variants in ClinVar

Classification Summary

Pathogenic51
Likely Pathogenic5
VUS327
Likely Benign15
Conflicting1
51
Pathogenic
5
Likely Pathogenic
327
VUS
15
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
51
0
51
Likely Pathogenic
0
0
5
0
5
VUS
0
323
4
0
327
Likely Benign
0
13
0
2
15
Benign
0
0
0
0
0
Conflicting
1
Total0336602399

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BRD10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found