FANK1

Chr 10

fibronectin type III and ankyrin repeat domains 1

Also known as: HSD13

NCBI Gene: 92565ENSG00000203780UniProt: Q8TC84

Involved in regulation of DNA-templated transcription and regulation of apoptotic process. Located in chromatin; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 0.94
OE 0.78 (0.53–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.89 (0.78–1.01)
173 obs / 194.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.53–1.18)
0≤0.351.4
Missense OE?0.89 (0.78–1.01)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 16 / 20.6Missense obs/exp: 173 / 194.8Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FANK1 · 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