| Variant ID | 7351 |
|---|---|
| Entrez Gene ID | 55601 |
| Gene | DDX60 (GeneCards) |
| Location | hg19 4:169169206-169169206
hg38 4:168248055-168248055 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.169169206 G>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1106 |
| CADD Raw score (version 1.3) | -0.063187 (Deleterious) |
| FATHMM raw prediction score | 0.14595 (Tolerated) |
| Deleterious probability by DeFine | 0.4062 (Neutral) |
| Entrez Gene ID | 55601 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX60 (GeneCards) |
| Number of variants in DDX60 in this database | 2 (view all the variants) |
| Full name | DExD/H-box helicase 60 |
| Band | 4q32.3 |
| Other IDs | Vega: OTTHUMG00000161350 OMIM: 613974 HGNC: HGNC:25942 Ensembl: ENSG00000137628 |
| Other names | None |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |