DCAF13

Chr 8

DDB1 and CUL4 associated factor 13

Also known as: GM83, HSPC064, Sof1, WDSOF1

NCBI Gene: 25879 ENSG00000164934 UniProt: Q9NV06 OMIM: 616196

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables nuclear estrogen receptor binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including decidualization; epigenetic programming in the zygotic pronuclei; and spindle assembly involved in female meiosis. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Mechanism· predicted

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 OE?0.59 (0.41–0.85)

0≤0.351.4

Missense OE?1.10 (1.01–1.20)

0≤0.61.4

Synonymous OE?1.16

0≤1.21.6

LoF obs/exp: 20 / 34.1Missense obs/exp: 382 / 345.9Syn Z: -1.41

Background carrier burden — how many people carry a rare variant somewhere in DCAF13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

892 rare PASS variants

Rare truncating (LoF)

1 in 260

138 rare PASS variants

Rare synonymous (reference)

1 in 120

310 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DCAF13; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 96	1 in 280
South Asian	~43k	1 in 54	1 in 1,100
Remaining (unassigned)	~30k	1 in 50	1 in 610
European (Finnish)	~27k	1 in 160	1 in 1,600
Admixed American	~22k	1 in 37	1 in 400
African / African American	~21k	1 in 43	1 in 800
East Asian	~20k	1 in 110	1 in 380
Ashkenazi Jewish	~13k	1 in 180	1 in 800
Middle Eastern	~2,884	1 in 76	1 in 260

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 8 of 11 coding exons well covered in gnomAD exomes; exons 3, 7, 11 marginal. Genomes: all 11.? see exons ↓