FOXH1

Chr 8

forkhead box H1

Also known as: FAST-1, FAST1

NCBI Gene: 8928ENSG00000160973UniProt: O75593OMIM: 603621

FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADLimitednot for standalone diagnostic reporting
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.042
Z-score 1.93
OE 0.37 (0.18–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-2.55Z-score
OE missense 1.53 (1.39–1.69)
278 obs / 181.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.37 (0.18–0.84)
0≤0.351.4
Missense OE?1.53 (1.39–1.69)
0≤0.61.4
Synonymous OE?1.37
0≤1.21.6
LoF obs/exp: 4 / 10.9Missense obs/exp: 278 / 181.5Syn Z: -2.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FOXH1 · 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