DDX11 Chromosome 12
DEAD/H-box helicase 11
Upload your DNA to see your personal genotypes for variants in DDX11.
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 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 enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAD-box helicases|DEAH-box helicases"
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000013573
Associated Conditions (9)
Warsaw breakage syndrome
Familial cancer of breast
Inborn genetic diseases
Sarcoma
DDX11-related condition
Clear cell carcinoma of kidney
Uterine carcinosarcoma
Glioma susceptibility 1
Cervical cancer
Key Variants
RS147656831
Conflicting classifications of pathogenicity
Warsaw breakage syndrome, Familial cancer of breast, Warsaw breakage syndrome
Health Risk
RS71230307
Conflicting classifications of pathogenicity
Health Risk
RS756948772
Conflicting classifications of pathogenicity
Inborn genetic diseases, Warsaw breakage syndrome, Inborn genetic diseases
Health Risk
RS757579341
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS780008058
Conflicting classifications of pathogenicity
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS1359896342
Likely pathogenic
Health Risk
RS1946792293
Likely pathogenic
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS368266910
Likely pathogenic
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS752448493
Likely pathogenic
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS774867268
Likely pathogenic
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS780059558
Likely pathogenic
Warsaw breakage syndrome, Warsaw breakage syndrome
Health Risk
RS148856317
Pathogenic
Warsaw breakage syndrome, Sarcoma, DDX11-related condition
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147656831 | Health Risk | Conflicting classifications of pathogenicity | Warsaw breakage syndrome, Familial cancer of breast, Warsaw breakage syndrome |
| RS71230307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756948772 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Warsaw breakage syndrome, Inborn genetic diseases |
| RS757579341 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780008058 | Health Risk | Conflicting classifications of pathogenicity | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS1359896342 | Health Risk | Likely pathogenic | — |
| RS1946792293 | Health Risk | Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS368266910 | Health Risk | Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS752448493 | Health Risk | Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS774867268 | Health Risk | Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS780059558 | Health Risk | Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS148856317 | Health Risk | Pathogenic | Warsaw breakage syndrome, Sarcoma, DDX11-related condition |
| RS1944933634 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS1946297931 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS1946656233 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS730880279 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS730880280 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS745501673 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS766120336 | Health Risk | Pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS781413815 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS201180239 | Health Risk | Pathogenic/Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS201968272 | Health Risk | Pathogenic/Likely pathogenic | Warsaw breakage syndrome, Sarcoma, Glioma susceptibility 1 |
| RS776627170 | Health Risk | Pathogenic/Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS778363138 | Health Risk | Pathogenic/Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |
| RS779058797 | Health Risk | Pathogenic/Likely pathogenic | Warsaw breakage syndrome, Warsaw breakage syndrome |