STOX1

Chr 10

storkhead box 1

Also known as: C10orf24

Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of mitotic cell cycle phase transition; positive regulation of protein phosphorylation; and regulation of gene expression. Located in centrosome; cytosol; and nuclear lumen. Implicated in pre-eclampsia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPre-eclampsia/eclampsia 4
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 0.97
OE 0.82 (0.611.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.34Z-score
OE missense 0.96 (0.881.03)
438 obs / 458.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.611.12)
00.351.4
Missense OE?0.96 (0.881.03)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 28 / 34.1Missense obs/exp: 438 / 458.2Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

STOX1 · 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.

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