DDX41 Chromosome 5
DEAD-box helicase 41
Upload your DNA to see your personal genotypes for variants in DDX41.
What This Gene Does
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]
Gene Info
Gene Group
"DEAD-box helicases|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000183258
Associated Conditions (9)
DDX41-related disorder
DDX41-related hematologic malignancy predisposition syndrome
Inborn genetic diseases
Myelodysplastic syndrome
Bone marrow hypocellularity
Myelodysplasia
Acute myeloid leukemia
Inherited acute myeloid leukemia
Focal segmental glomerulosclerosis 9
Key Variants
RS1014402897
Conflicting classifications of pathogenicity
DDX41-related disorder, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
Health Risk
RS1038728566
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1162015461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1175013945
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1234975047
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1245318068
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1248764875
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1289634533
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1356103698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138435584
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS139112542
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS139780256
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
Health Risk
All Variants (127)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2127436963 | Health Risk | Pathogenic | — |
| RS2532074787 | Health Risk | Pathogenic | DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome |
| RS2532075844 | Health Risk | Pathogenic | — |
| RS2532079821 | Health Risk | Pathogenic | — |
| RS2532083882 | Health Risk | Pathogenic | — |
| RS2532088551 | Health Risk | Pathogenic | — |
| RS372190702 | Health Risk | Pathogenic | DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome |
| RS754907965 | Health Risk | Pathogenic | DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases |
| RS759501764 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS766117035 | Health Risk | Pathogenic | Myelodysplasia, DDX41-related hematologic malignancy predisposition syndrome, Myelodysplasia |
| RS866179648 | Health Risk | Pathogenic | Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder |
| RS899399494 | Health Risk | Pathogenic | Inherited acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases |
| RS915284509 | Health Risk | Pathogenic | — |
| RS1170971274 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, Inborn genetic diseases |
| RS141601766 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Bone marrow hypocellularity, Myelodysplasia |
| RS1554111533 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554111683 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome |
| RS1761145210 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |
| RS199675507 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |
| RS377745714 | Health Risk | Pathogenic/Likely pathogenic | Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases |
| RS746278774 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases |
| RS747672157 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, Inborn genetic diseases |
| RS753425379 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |
| RS760059747 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |
| RS762890562 | Health Risk | Pathogenic/Likely pathogenic | Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder |
| RS780643002 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |
| RS869320762 | Health Risk | Pathogenic/Likely pathogenic | DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome |