FOXQ1

Chr 6

forkhead box Q1

Also known as: HFH1

NCBI Gene: 94234ENSG00000164379UniProt: Q9C009

FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]

196
ClinVar variants
67
Pathogenic / LP
0.62
pLI score
0
Active trials
Clinical Summary— FOXQ1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.62) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
67 Pathogenic / Likely Pathogenic· 118 VUS of 196 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.96LOEUF
pLI 0.618
Z-score 1.62
OE 0.00 (0.00–0.96)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.81Z-score
OE missense 0.79 (0.67–0.94)
97 obs / 122.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.96)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.79 (0.67–0.94)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 0 / 3.1Missense obs/exp: 97 / 122.2Syn Z: -0.22

ClinVar Variant Classifications

196 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic62
Likely Pathogenic5
VUS118
Likely Benign7
Benign2
Conflicting1
62
Pathogenic
5
Likely Pathogenic
118
VUS
7
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
62
0
62
Likely Pathogenic
0
0
5
0
5
VUS
0
111
7
0
118
Likely Benign
0
3
2
2
7
Benign
0
1
0
1
2
Conflicting
—1
Total0115763195

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FOXQ1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
FORKHEAD BOX Q1; FOXQ1
MIM #612788 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/β-catenin signalling pathway.
Wu J et al.·Oncogene
2024
High serum LDL promotes EMT and stemness through LDLR/FOXQ1/NF-κB1 pathway in epithelial ovarian cancer.
Tang S et al.·Oncogene
2025
FOXQ1-mediated SIRT1 upregulation enhances stemness and radio-resistance of colorectal cancer cells and restores intestinal microbiota function by promoting β-catenin nuclear translocation.
Yang M et al.·J Exp Clin Cancer Res
2022
FOXQ1 is overexpressed in colorectal cancer and enhances tumorigenicity and tumor growth.
Kaneda H et al.·Cancer Res
2010
Expression and Clinical Significance of FOXQ1, MMP11, and CST1 in Colorectal Cancer.
Chu J et al.·Clin Lab
2026
Epigenetic activation of secretory phenotypes in senescence by the FOXQ1-SIRT4-GDH signaling.
Sun X et al.·Cell Death Dis
2023
Foxq1 promotes metastasis of nasopharyngeal carcinoma by inducing vasculogenic mimicry via the EGFR signaling pathway.
Luo Y et al.·Cell Death Dis
2021
FOXQ1 regulates senescence-associated inflammation via activation of SIRT1 expression.
Wang P et al.·Cell Death Dis
2017
HNRNPA2B1 promotes oral squamous cell carcinogenesis via m(6)A-dependent stabilization of FOXQ1 mRNA stability.
Wang X et al.·IUBMB Life
2024
FOXM1 and FOXQ1 Are Promising Prognostic Biomarkers and Novel Targets of Tumor-Suppressive miR-342 in Human Colorectal Cancer.
Weng W et al.·Clin Cancer Res
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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