STOX1

protein-coding

storkhead box 1

Gene summary

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]

Previous symbols:

C10orf24

MANE transcript

NM_152709.5

Inheritance

—

ClinVar variants

U:133B:27

Top phenotype

STOX1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.82

Max pathogenic AF

—

Genomic locus

chr10:68,827,531-68,895,432

External References & Databases

Ensembl (ENSG00000165730)

Transcript & Mutation Effects

hg38 • Region Span ~67.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to STOX1 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 144

not providedTotal: 13

STOX1-related disorderTotal: 4

Preeclampsia/eclampsia 4Total: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152709.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	7 clinvar	1 clinvar	9
missense			131 clinvar	17 clinvar	2 clinvar	150
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	133	24	3	160

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152709.5	RefSeq	NP_689922.3	4	MANE Select
ENST00000298596.11	Ensembl	ENSP00000298596.6	4	MANE Select
NM_001130159.3	RefSeq	NP_001123631.1	4	Standard
NM_001130160.3	RefSeq	NP_001123632.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle
positive regulation of cell population proliferation
regulation of gene expression
positive regulation of gene expression
negative regulation of gene expression

Molecular Function

RNA polymerase II regulatory region sequence-specific DNA binding
protein binding

Cellular Component

fibrillar center
nucleus
nucleoplasm
cytoplasm
centrosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000298596
Coding exons: 4
Length: 67891
Individuals with no LoFs: 124777
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 124792
p: 0.0000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.336	438	458	0.956	0.0000235	6502
Missense (PolyPhen)		94	99.141	0.94815		1621
Synonymous	-0.0254	168	168	1.00	0.00000899	1935
Loss of Function	0.974	28	34.1	0.820	0.00000216	428

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00039	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity). {ECO:0000250|UniProtKB:B2RQL2, ECO:0000269|PubMed:24738702}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.645
RVIS EVS: 1.45
RVIS percentile EVS: 95.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.122

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium