DCAF13

Chr 8

DDB1 and CUL4 associated factor 13

Also known as: GM83, HSPC064, Sof1, WDSOF1

NCBI Gene: 25879ENSG00000164934UniProt: Q9NV06

The DCAF13 protein functions as a substrate adaptor in the Cul4-RING E3 ubiquitin ligase complex and participates in ribosome biogenesis as part of the small subunit processome that processes 18S rRNA. DCAF13 mutations cause autosomal recessive developmental delay with seizures and intellectual disability, affecting neurological development. The gene plays critical roles in early embryonic development, ribosomal RNA processing, and female meiosis.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
16
Pubs (1 yr)
39
P/LP submissions
0%
P/LP missense
0.85
LOEUF
DN
Mechanism· predicted
Clinical Summary— DCAF13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
39 unique Pathogenic / Likely Pathogenic· 81 VUS of 153 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.85LOEUF
pLI 0.000
Z-score 2.24
OE 0.59 (0.41–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.69Z-score
OE missense 1.10 (1.01–1.20)
382 obs / 345.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.59 (0.41–0.85)
0≤0.351.4
Missense OE1.10 (1.01–1.20)
0≤0.61.4
Synonymous OE1.16
0≤1.21.6
LoF obs/exp: 20 / 34.1Missense obs/exp: 382 / 345.9Syn Z: -1.41
DN
0.6938th %ile
GOF
0.5465th %ile
LOF
0.3841th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

153 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
VUS81
Likely Benign3
Benign3
39
Pathogenic
81
VUS
3
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
39
0
39
Likely Pathogenic
0
0
0
0
0
VUS
0
62
19
0
81
Likely Benign
0
0
3
0
3
Benign
0
0
3
0
3
Total062640126

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DCAF13 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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