FOXK1
Chr 7forkhead box K1
Also known as: FOXK1L
FOXK1 encodes a forkhead transcription factor that regulates glucose metabolism, autophagy, and muscle cell differentiation by binding to specific DNA sequences and either activating or repressing target genes. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and variable features including seizures and muscular abnormalities. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants (pLI=0.81, LOEUF=0.40).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
163 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 91 | 13 | 0 | 104 |
Likely Benign | 0 | 4 | 0 | 3 | 7 |
Benign | 0 | 1 | 1 | 4 | 6 |
Conflicting | — | 1 | |||
| Total | 0 | 96 | 48 | 7 | 152 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOXK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools