| Variant ID | 1105 |
|---|---|
| Entrez Gene ID | 254048 |
| Gene | UBN2 (GeneCards) |
| Location | hg19 7:138978658-138978658
hg38 7:139293912-139293912 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.138978658 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1309 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2776 |
| CADD Raw score (version 1.3) | 3.67187 (Deleterious) |
| FATHMM raw prediction score | 0.80141 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| MutationTaster score | 0.988 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.33 (Tolerated) |
| MetaSVM score | -0.963 (Tolerated) |
| MetaLR score | 0.113 (Tolerated) |
| MCAP score | 0.038 (Deleterious) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.149 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.252 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| Deleterious probability by iFish2 | 0.0047 (Neutral) |
| Deleterious probability by DeFine | 0.1299 (Neutral) |
| Entrez Gene ID | 254048 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBN2 (GeneCards) |
| Number of variants in UBN2 in this database | 1 (view all the variants) |
| Full name | ubinuclein 2 |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000157623 OMIM: 613841 HGNC: HGNC:21931 Ensembl: ENSG00000157741 |
| Other names | None |
| 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; |