SKA1

Chr 18

spindle and kinetochore associated complex subunit 1

Also known as: C18orf24

NCBI Gene: 220134ENSG00000154839UniProt: Q96BD8

Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore; negative regulation of mitotic spindle assembly checkpoint signaling; and positive regulation of microtubule polymerization. Located in centrosome; kinetochore; and mitotic spindle microtubule. Part of SKA complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
DN
Mechanism· predicted
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?
1.22LOEUF
pLI 0.000
Z-score 1.00
OE 0.70 (0.42–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.02Z-score
OE missense 0.75 (0.63–0.89)
95 obs / 127.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.42–1.22)
0≤0.351.4
Missense OE?0.75 (0.63–0.89)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 9 / 12.9Missense obs/exp: 95 / 127.2Syn Z: 0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SKA1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients