DDX10

Chr 11

DEAD-box helicase 10

Also known as: Dbp4, HRH-J8

NCBI Gene: 1662 ENSG00000178105 UniProt: Q13206

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.95LOEUF

pLI 0.000

Z-score 1.83

OE 0.71 (0.53–0.95)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.30Z-score

OE missense 0.96 (0.89–1.04)

441 obs / 459.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.71 (0.53–0.95)

0≤0.351.4

Missense OE?0.96 (0.89–1.04)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 32 / 45.3Missense obs/exp: 441 / 459.3Syn Z: -0.68

Background carrier burden — how many people carry a rare variant somewhere in DDX10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 55

1,120 rare PASS variants

Rare truncating (LoF)

1 in 250

161 rare PASS variants

Rare synonymous (reference)

1 in 110

393 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DDX10; 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 71	1 in 790
South Asian	~43k	1 in 35	1 in 390
Remaining (unassigned)	~30k	1 in 48	1 in 410
European (Finnish)	~27k	1 in 140	1 in 940
Admixed American	~22k	1 in 36	1 in 400
African / African American	~21k	1 in 35	1 in 610
East Asian	~20k	1 in 60	1 in 610
Ashkenazi Jewish	~13k	1 in 280	1 in 1,700
Middle Eastern	~2,884	1 in 46	≈ 1 in 700

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): 14 of 18 coding exons well covered in gnomAD exomes; exons 2, 9, 11, 12 marginal. Genomes: all 18.? see exons ↓