BAZ1B

Chr 7

bromodomain adjacent to zinc finger domain 1B

Also known as: WBSCR10, WBSCR9, WSTF

NCBI Gene: 9031 ENSG00000009954 UniProt: Q9UIG0

This gene encodes a chromatin remodeling protein that regulates transcription and DNA repair through ATP-dependent nucleosome repositioning and histone phosphorylation. BAZ1B is deleted in Williams-Beuren syndrome, a multisystem developmental disorder affecting cardiovascular, neurodevelopmental, and behavioral domains that typically presents in early childhood. The gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.11

Clinical Summary— BAZ1B

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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.

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ClinVar Variants

145 VUS of 210 total submissions

Explore recent and relevant literature in Research Assistant →

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?

0.11LOEUF

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?

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?

LoF OE?0.04 (0.02–0.11)

0≤0.351.4

Missense OE?0.63 (0.59–0.68)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 3 / 71.0Missense obs/exp: 508 / 805.3Syn Z: -0.32

This gene — mechanism propensity

0.2199th %ile

GOF

0.1999th %ile

LOF

0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.11

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

210 submitted variants in ClinVar

ClinVar

Classification Summary

VUS145

Likely Benign38

Benign5

145

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	4	140	0	1	145
Likely Benign	0	7	4	27	38
Benign	0	1	0	4	5
Total	4	148	4	32	188

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

View in ClinVar →

163 pathogenic / likely-pathogenic (of 170) ClinVar copy-number / structural variants overlap BAZ1B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →