DCAF17

Chr 2AR

DDB1 and CUL4 associated factor 17

Also known as: C20orf37, C2orf37

NCBI Gene: 80067ENSG00000115827UniProt: Q5H9S7OMIM: 612515

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Woodhouse-Sakati syndromeMIM #241080
AR

Clinical highlights

Gene-disease validity (ClinGen)
Woodhouse-Sakati syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — DCAF17
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.30
OE 0.53 (0.35–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.82Z-score
OE missense 0.86 (0.77–0.96)
230 obs / 267.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.35–0.82)
0≤0.351.4
Missense OE?0.86 (0.77–0.96)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 15 / 28.2Missense obs/exp: 230 / 267.5Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCAF17 · 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