BAZ1B

Chr 7

bromodomain adjacent to zinc finger domain 1B

Also known as: WBSCR10, WBSCR9, WSTF

NCBI Gene: 9031ENSG00000009954UniProt: Q9UIG0

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

351
ClinVar variants
160
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— BAZ1B
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
160 Pathogenic / Likely Pathogenic· 148 VUS of 351 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.11LOEUF
pLI 1.000
Z-score 7.48
OE 0.04 (0.02–0.11)
Highly constrained

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

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.72Z-score
OE missense 0.63 (0.59–0.68)
508 obs / 805.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.04 (0.02–0.11)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.63 (0.59–0.68)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 3 / 71.0Missense obs/exp: 508 / 805.3Syn Z: -0.32

ClinVar Variant Classifications

351 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic154
Likely Pathogenic6
VUS148
Likely Benign38
Benign5
154
Pathogenic
6
Likely Pathogenic
148
VUS
38
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
154
0
154
Likely Pathogenic
0
0
6
0
6
VUS
1
136
10
1
148
Likely Benign
0
7
4
27
38
Benign
0
1
0
4
5
Total114417432351

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

View in ClinVar →

Protein Context — Lollipop Plot

BAZ1B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Williams syndrome.
Kozel BA et al.·Nat Rev Dis Primers
2021Review
Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.
Serrano-Juárez CA et al.·Neuropsychol Rev
2023Review
Animal models of Williams syndrome.
Osborne LR·Am J Med Genet C Semin Med Genet
2010Review
Polygenic Risk of Hypertriglyceridemia Is Modified by BMI.
Esteve-Luque V et al.·Int J Mol Sci
2022
Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
Zhou J et al.·BMC Med Genomics
2022Functional
Profiling Kinase Activities for Precision Oncology in Diffuse Gastric Cancer.
Singh S et al.·OMICS
2024
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z et al.·BMC Musculoskelet Disord
2020
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C et al.·Eur J Hum Genet
2014
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Ferrero GB et al.·Eur J Hum Genet
2010Case report
High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
Cavallo F et al.·Mol Autism
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools