DCAF16

Chr 4

DDB1 and CUL4 associated factor 16

Also known as: C4orf30

NCBI Gene: 54876ENSG00000163257UniProt: Q9NXF7OMIM: 620524

Predicted to be involved in epigenetic regulation of gene expression. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.48
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.48LOEUF
pLI 0.000
Z-score 0.62
OE 0.76 (0.41–1.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.84–1.16)
105 obs / 106.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.41–1.48)
0≤0.351.4
Missense OE?0.99 (0.84–1.16)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 6 / 7.9Missense obs/exp: 105 / 106.1Syn Z: -1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCAF16 · 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