DCAF10

Chr 9

DDB1 and CUL4 associated factor 10

Also known as: WDR32

The protein functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin-protein ligase complex, facilitating targeted protein degradation through ubiquitination. Mutations cause autosomal recessive intellectual disability with seizures and developmental delay. The gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.40
Clinical SummaryDCAF10
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.40LOEUF
pLI 0.804
Z-score 3.67
OE 0.17 (0.090.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.73Z-score
OE missense 0.55 (0.480.63)
158 obs / 288.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.17 (0.090.40)
00.351.4
Missense OE0.55 (0.480.63)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 4 / 23.0Missense obs/exp: 158 / 288.3Syn Z: 0.15
DN
0.3494th %ile
GOF
0.3689th %ile
LOF
0.76top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.40

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DCAF10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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