DTX4

Chr 11

deltex E3 ubiquitin ligase 4

Also known as: RNF155

NCBI Gene: 23220 ENSG00000110042 UniProt: Q9Y2E6 OMIM: 616110

Enables ubiquitin protein ligase activity. Involved in negative regulation of innate immune response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein K48-linked ubiquitination. Is active in centrosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.48LOEUF

pLI 0.217

Z-score 3.47

OE 0.24 (0.13–0.48)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.67Z-score

OE missense 0.76 (0.69–0.84)

284 obs / 374.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.24 (0.13–0.48)

0≤0.351.4

Missense OE?0.76 (0.69–0.84)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 6 / 24.6Missense obs/exp: 284 / 374.9Syn Z: -0.02

Background carrier burden — how many people carry a rare variant somewhere in DTX4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 79

749 rare PASS variants

Rare truncating (LoF)

1 in 2,500

71 rare PASS variants

Rare synonymous (reference)

1 in 150

338 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DTX4. 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 120	1 in 2,200
South Asian	~43k	1 in 81	1 in 3,000
Remaining (unassigned)	~30k	1 in 56	1 in 3,300
European (Finnish)	~27k	1 in 240	1 in 2,900
Admixed American	~22k	1 in 79	1 in 3,600
African / African American	~21k	1 in 69	≈ 1 in 8,200
East Asian	~20k	1 in 110	1 in 2,700
Ashkenazi Jewish	~13k	1 in 230	none seen
Middle Eastern	~2,884	1 in 73	none seen

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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓