| Variant ID | 1120 |
|---|---|
| Entrez Gene ID | 8638 |
| Gene | OASL (GeneCards) |
| Location | hg19 12:121469409-121469409
hg38 12:121031606-121031606 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.121469409 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 165 |
| Amino acid changes in protein | P > S |
| 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 | -1.3285 |
| CADD Raw score (version 1.3) | -0.824816 (Deleterious) |
| FATHMM raw prediction score | 0.05669 (Tolerated) |
| SIFT score | 0.654 (Tolerated) |
| LRT score | 0.127 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.935 (Tolerated) |
| PROVEAN score | -2.34 (Tolerated) |
| MetaSVM score | -1.013 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.975 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.137 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.137 |
| Deleterious probability by iFish2 | 0.0228 (Neutral) |
| Deleterious probability by DeFine | 0.7388 (Deleterious) |
| Entrez Gene ID | 8638 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OASL (GeneCards) |
| Number of variants in OASL in this database | 2 (view all the variants) |
| Full name | 2'-5'-oligoadenylate synthetase like |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000154981 OMIM: 603281 HGNC: HGNC:8090 Ensembl: ENSG00000135114 |
| Other names | OASL1, OASLd, TRIP14, TRIP-14, p59OASL, p59OASL, p59-OASL |
| Summary | None |
| 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; |