DCAF17

Chr 2AR

DDB1 and CUL4 associated factor 17

Also known as: C20orf37, C2orf37

NCBI Gene: 80067 ENSG00000115827 UniProt: Q5H9S7 OMIM: 612515

The protein is a nuclear transmembrane protein that associates with the cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations cause Woodhouse-Sakati syndrome, inherited in an autosomal recessive pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.821 OMIM phenotype

Clinical Summary— DCAF17

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Gene-Disease Validity (ClinGen)

Woodhouse-Sakati syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

59 unique Pathogenic / Likely Pathogenic· 170 VUS of 594 total submissions

Explore recent and relevant literature in Research Assistant →

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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

594 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38

Likely Pathogenic21

VUS170

Likely Benign275

Benign60

Conflicting21

Pathogenic

Likely Pathogenic

170

VUS

275

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	32	2	4	0	38
Likely Pathogenic	20	1	0	0	21
VUS	2	108	60	0	170
Likely Benign	0	3	153	119	275
Benign	0	1	56	3	60
Conflicting	—				21
Total	54	115	273	122	585

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

View in ClinVar →

21 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap DCAF17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →