DDX21

Chr 10

DExD-box helicase 21

Also known as: GUA, GURDB, II/Gu, RH, RH II/Gu, RH-II/GU, RH-II/GuA, gu-alpha

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, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]

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.
0
Active trials
37
Pubs (1 yr)
P/LP submissions
P/LP missense
0.18
LOEUF· LoF intol.
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.18LOEUF
pLI 1.000
Z-score 5.59
OE 0.07 (0.030.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.45Z-score
OE missense 0.67 (0.600.73)
283 obs / 425.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.07 (0.030.18)
00.351.4
Missense OE?0.67 (0.600.73)
00.61.4
Synonymous OE?0.84
01.21.6
LoF obs/exp: 3 / 42.2Missense obs/exp: 283 / 425.4Syn Z: 1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DDX21 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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