| Variant ID | 904 |
|---|---|
| Entrez Gene ID | 2547 |
| Gene | XRCC6 (GeneCards) |
| Location | hg19 22:42032190-42032190
hg38 22:41636186-41636186 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.42032190 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 90 |
| Amino acid changes in protein | T > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5719040 |
| Variant occurences in COSMIC | 3(skin) |
| EIGEN score | 0.8864 |
| CADD Raw score (version 1.3) | 6.779024 (Deleterious) |
| FATHMM raw prediction score | 0.99476 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.145 (Deleterious) |
| PROVEAN score | -5.25 (Deleterious) |
| MetaSVM score | 0.281 (Deleterious) |
| MetaLR score | 0.582 (Deleterious) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.405 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.868 |
| Deleterious probability by iFish2 | 0.1043 (Neutral) |
| Deleterious probability by DeFine | 0.937 (Deleterious) |
| Entrez Gene ID | 2547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XRCC6 (GeneCards) |
| Number of variants in XRCC6 in this database | 3 (view all the variants) |
| Full name | X-ray repair cross complementing 6 |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000151190 OMIM: 152690 HGNC: HGNC:4055 Ensembl: ENSG00000196419 |
| Other names | ML8, KU70, TLAA, CTC75, CTCBF, G22P1 |
| Summary | The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008] |
| 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; |