| Variant ID | 16892 |
|---|---|
| Entrez Gene ID | 1663 |
| Gene | DDX11 (GeneCards) |
| Location | hg19 12:31306397-31306397
hg38 12:31153463-31153463 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.31306397 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3817 |
| CADD Raw score (version 1.3) | -0.100439 (Deleterious) |
| FATHMM raw prediction score | 0.06302 (Tolerated) |
| Deleterious probability by DeFine | 0.0549 (Neutral) |
| Entrez Gene ID | 1663 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX11 (GeneCards) |
| Number of variants in DDX11 in this database | 2 (view all the variants) |
| Full name | DEAD/H-box helicase 11 |
| Band | 12p11.21 |
| Other IDs | Vega: OTTHUMG00000168435 OMIM: 601150 HGNC: HGNC:2736 Ensembl: ENSG00000013573 |
| Other names | CHL1, KRG2, WABS, CHLR1 |
| Summary | 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] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |