| Variant ID | 1029 |
|---|---|
| Entrez Gene ID | 115752 |
| Gene | DIS3L (GeneCards) |
| Location | hg19 15:66625451-66625451
hg38 15:66333113-66333113 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.66625451 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 906 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8662 |
| CADD Raw score (version 1.3) | 1.027437 (Deleterious) |
| FATHMM raw prediction score | 0.08866 (Tolerated) |
| SIFT score | 0.089 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.205 (Tolerated) |
| PROVEAN score | -2.11 (Tolerated) |
| MetaSVM score | -1.023 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.216 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.724 |
| Deleterious probability by iFish2 | 0.4626 (Neutral) |
| Deleterious probability by DeFine | 0.6669 (Deleterious) |
| Entrez Gene ID | 115752 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIS3L (GeneCards) |
| Number of variants in DIS3L in this database | 1 (view all the variants) |
| Full name | DIS3 like exosome 3'-5' exoribonuclease |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133181 OMIM: 614183 HGNC: HGNC:28698 Ensembl: ENSG00000166938 |
| Other names | DIS3L1 |
| Summary | The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016] |
| 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; |