DDX41

Chr 5AD

DEAD-box helicase 41

Also known as: ABS, MPLPF

NCBI Gene: 51428ENSG00000183258UniProt: Q9UJV9OMIM: 608170

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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}MIM #616871
AD

Clinical highlights

Gene-disease validity (ClinGen)
DDX41-related hematologic malignancy predisposition syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
74
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
LOF*
Mechanism· G2P
📖
GeneReview available — DDX41
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.81
OE 0.50 (0.34–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.28Z-score
OE missense 0.68 (0.61–0.75)
272 obs / 400.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.50 (0.34–0.74)
0≤0.351.4
Missense OE?0.68 (0.61–0.75)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 18 / 36.3Missense obs/exp: 272 / 400.7Syn Z: -2.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDX41 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients