| Variant ID | 1023 |
|---|---|
| Entrez Gene ID | 57634 |
| Gene | EP400 (GeneCards) |
| Location | hg19 12:132561062-132561062
hg38 12:132076517-132076517 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.132561062 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 3008 |
| Amino acid changes in protein | V > A |
| 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 | 0.5331 |
| CADD Raw score (version 1.3) | 4.805601 (Deleterious) |
| FATHMM raw prediction score | 0.99778 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.975 (Tolerated) |
| PROVEAN score | -1.46 (Tolerated) |
| MetaSVM score | 0.567 (Deleterious) |
| MetaLR score | 0.748 (Deleterious) |
| MCAP score | 0.085 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.616 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.739 |
| Deleterious probability by iFish2 | 0.3592 (Neutral) |
| Deleterious probability by DeFine | 0.9024 (Deleterious) |
| Entrez Gene ID | 57634 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EP400 (GeneCards) |
| Number of variants in EP400 in this database | 2 (view all the variants) |
| Full name | E1A binding protein p400 |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000187346 OMIM: 606265 HGNC: HGNC:11958 Ensembl: ENSG00000183495 |
| Other names | P400, CAGH32, TNRC12 |
| 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; |