BAZ1B

Chr 7

bromodomain adjacent to zinc finger domain 1B

Also known as: WBSCR10, WBSCR9, WSTF

NCBI Gene: 9031 ENSG00000009954 UniProt: Q9UIG0 OMIM: 605681

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in BAZ1B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

1,432 rare PASS variants

Rare truncating (LoF)

1 in 5,500

53 rare PASS variants

Rare synonymous (reference)

1 in 95

718 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BAZ1B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 78	1 in 5,000
South Asian	~43k	1 in 51	1 in 4,200
Remaining (unassigned)	~30k	1 in 62	1 in 5,900
European (Finnish)	~27k	1 in 180	≈ 1 in 27,000
Admixed American	~22k	1 in 59	1 in 2,700
African / African American	~21k	1 in 53	≈ 1 in 13,000
East Asian	~20k	1 in 74	≈ 1 in 18,000
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 54	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.