DDI1

Chr 11

DDI proteasomal shuttling factor 1

NCBI Gene: 414301 ENSG00000170967 UniProt: Q8WTU0 OMIM: 620870

Predicted to enable aspartic-type endopeptidase activity. Involved in several processes, including cellular response to hydroxyurea; regulation of DNA stability; and regulation of protein stability. Predicted to be active in cytoplasm. [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

1.64

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.64LOEUF

pLI 0.000

Z-score -0.15

OE 1.05 (0.68–1.64)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.07Z-score

OE missense 0.99 (0.89–1.10)

233 obs / 236.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.05 (0.68–1.64)

0≤0.351.4

Missense OE?0.99 (0.89–1.10)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 13 / 12.4Missense obs/exp: 233 / 236.0Syn Z: -1.20

Background carrier burden — how many people carry a rare variant somewhere in DDI1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 77

533 rare PASS variants

Rare truncating (LoF)

1 in 1,700

65 rare PASS variants

Rare synonymous (reference)

1 in 250

241 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DDI1. 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 150	1 in 2,800
South Asian	~43k	1 in 76	1 in 790
Remaining (unassigned)	~30k	1 in 95	1 in 1,700
European (Finnish)	~27k	1 in 950	≈ 1 in 6,700
Admixed American	~22k	1 in 96	1 in 1,400
African / African American	~21k	1 in 87	1 in 1,000
East Asian	~20k	1 in 92	1 in 640
Ashkenazi Jewish	~13k	1 in 410	none seen
Middle Eastern	~2,884	1 in 68	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓