ZW10

Chr 11

zw10 kinetochore protein

Also known as: HZW10, KNTC1AP

NCBI Gene: 9183 ENSG00000086827 UniProt: O43264

This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ZW10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

892 rare PASS variants

Rare truncating (LoF)

1 in 1,300

125 rare PASS variants

Rare synonymous (reference)

1 in 140

333 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZW10. 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 74	1 in 2,000
South Asian	~43k	1 in 57	1 in 2,400
Remaining (unassigned)	~30k	1 in 54	1 in 1,700
European (Finnish)	~27k	1 in 120	1 in 490
Admixed American	~22k	1 in 67	1 in 800
African / African American	~21k	1 in 68	1 in 780
East Asian	~20k	1 in 74	1 in 2,500
Ashkenazi Jewish	~13k	1 in 270	1 in 1,500
Middle Eastern	~2,884	1 in 67	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.