ZWINT

Chr 10

ZW10 interacting kinetochore protein

Also known as: HZwint-1, KNTC2AP, SIP30, ZWINT1

This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
1.31
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.51
OE 0.88 (0.601.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.50Z-score
OE missense 1.12 (0.981.27)
166 obs / 148.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.601.31)
00.351.4
Missense OE?1.12 (0.981.27)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 17 / 19.4Missense obs/exp: 166 / 148.8Syn Z: 0.29

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

ZWINT · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →