| Variant ID | 970 |
|---|---|
| Entrez Gene ID | 25893 |
| Gene | TRIM58 (GeneCards) |
| Location | hg19 1:248028076-248028076
hg38 1:247864774-247864774 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.248028076 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 196 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2897 |
| CADD Raw score (version 1.3) | 4.902651 (Deleterious) |
| FATHMM raw prediction score | 0.95875 (Tolerated) |
| SIFT score | 0.221 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.836 (Tolerated) |
| MutatioinAssessor score | 3.125 (Deleterious) |
| PROVEAN score | -3.09 (Deleterious) |
| MetaSVM score | -1.062 (Tolerated) |
| MetaLR score | 0.049 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.975 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.569 |
| Deleterious probability by iFish2 | 0.2539 (Neutral) |
| Deleterious probability by DeFine | 0.9193 (Deleterious) |
| Entrez Gene ID | 25893 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIM58 (GeneCards) |
| Number of variants in TRIM58 in this database | 1 (view all the variants) |
| Full name | tripartite motif containing 58 |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040203 HGNC: HGNC:24150 Ensembl: ENSG00000162722 |
| Other names | BIA2 |
| 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; |