WDFY1

Chr 2

WD repeat and FYVE domain containing 1

Also known as: FENS-1, FENS1, WDF1, ZFYVE17

NCBI Gene: 57590ENSG00000085449UniProt: Q8IWB7OMIM: 618080

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 2.49
OE 0.45 (0.28–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.43Z-score
OE missense 0.75 (0.66–0.84)
190 obs / 254.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.28–0.75)
0≤0.351.4
Missense OE?0.75 (0.66–0.84)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 11 / 24.2Missense obs/exp: 190 / 254.3Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

WDFY1 · 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