DEUP1

Chr 11

deuterosome assembly protein 1

Also known as: CCDC67

NCBI Gene: 159989 ENSG00000165325 UniProt: Q05D60 OMIM: 617148

Enables identical protein binding activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm. Predicted to be active in centriole and deuterosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.99LOEUF

pLI 0.000

Z-score 1.60

OE 0.70 (0.51–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.24Z-score

OE missense 0.96 (0.87–1.06)

263 obs / 274.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.51–0.99)

0≤0.351.4

Missense OE?0.96 (0.87–1.06)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 24 / 34.1Missense obs/exp: 263 / 274.0Syn Z: -0.72

Background carrier burden — how many people carry a rare variant somewhere in DEUP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 59

800 rare PASS variants

Rare truncating (LoF)

1 in 150

195 rare PASS variants

Rare synonymous (reference)

1 in 120

264 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DEUP1; 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 84	1 in 270
South Asian	~43k	1 in 68	1 in 190
Remaining (unassigned)	~30k	1 in 51	1 in 150
European (Finnish)	~27k	1 in 280	1 in 540
Admixed American	~22k	1 in 58	1 in 320
African / African American	~21k	1 in 71	1 in 480
East Asian	~20k	1 in 80	1 in 280
Ashkenazi Jewish	~13k	1 in 150	1 in 700
Middle Eastern	~2,884	1 in 50	1 in 190

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 13 coding exons well covered in gnomAD exomes; exons 4, 6, 9, 11, 13 marginal. Genomes: all 13.? see exons ↓