| Variant ID | 1148 |
|---|---|
| Entrez Gene ID | 168400 |
| Gene | DDX53 (GeneCards) |
| Location | hg19 X:23019902-23019902
hg38 X:23001785-23001785 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.23019902 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 576 |
| Amino acid changes in protein | S > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3424689 |
| Variant occurences in COSMIC | 2(large_intestine) |
| CADD Raw score (version 1.3) | 0.406419 (Deleterious) |
| FATHMM raw prediction score | 0.17905 (Tolerated) |
| Deleterious probability by DeFine | 0.6785 (Deleterious) |
| Entrez Gene ID | 168400 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX53 (GeneCards) |
| Number of variants in DDX53 in this database | 1 (view all the variants) |
| Full name | DEAD-box helicase 53 |
| Band | Xp22.11 |
| Other IDs | Vega: OTTHUMG00000021248 HGNC: HGNC:20083 Ensembl: ENSG00000184735 |
| Other names | CAGE, CT26 |
| Summary | This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |