ZWILCH

Chr 15

zwilch kinetochore protein

Also known as: KNTC1AP, hZwilch

NCBI Gene: 55055 ENSG00000174442 UniProt: Q9H900

Involved in mitotic spindle assembly checkpoint signaling and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of Genome Resources, Jul 2025]

Research

Involved in mitotic spindle assembly checkpoint signaling and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.02LOEUF

pLI 0.000

Z-score 1.46

OE 0.73 (0.53–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.39Z-score

OE missense 1.06 (0.97–1.17)

317 obs / 298.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.73 (0.53–1.02)

0≤0.351.4

Missense OE?1.06 (0.97–1.17)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 25 / 34.2Missense obs/exp: 317 / 298.2Syn Z: -0.63

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 71

739 rare PASS variants

Rare truncating (LoF)

1 in 1,200

157 rare PASS variants

Rare synonymous (reference)

1 in 210

259 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZWILCH. 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 120	1 in 1,300
South Asian	~43k	1 in 54	1 in 860
Remaining (unassigned)	~30k	1 in 52	1 in 570
European (Finnish)	~27k	1 in 170	1 in 2,700
Admixed American	~22k	1 in 72	1 in 800
African / African American	~21k	1 in 61	1 in 680
East Asian	~20k	1 in 98	1 in 1,200
Ashkenazi Jewish	~13k	1 in 480	≈ 1 in 6,400
Middle Eastern	~2,884	1 in 53	≈ 1 in 960

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.

Exome coverage (gnomAD): 16 of 18 coding exons well covered in gnomAD exomes; exons 6, 14 marginal. Genomes: all 18.? see exons ↓