| Variant ID | 934 |
|---|---|
| Entrez Gene ID | 11016 |
| Gene | ATF7 (GeneCards) |
| Location | hg19 12:53917165-53917165
hg38 12:53523381-53523381 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.53917165 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 377 |
| Amino acid changes in protein | E > * |
| 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 | 1.2097 |
| CADD Raw score (version 1.3) | 13.736322 (Deleterious) |
| FATHMM raw prediction score | 0.99408 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.31 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.295 |
| Deleterious probability by DeFine | 0.9663 (Deleterious) |
| Entrez Gene ID | 11016 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATF7 (GeneCards) |
| Number of variants in ATF7 in this database | 3 (view all the variants) |
| Full name | activating transcription factor 7 |
| Band | 12q13.13 |
| Other IDs | Vega: OTTHUMG00000169776 OMIM: 606371 HGNC: HGNC:792 Ensembl: ENSG00000170653 |
| Other names | ATFA |
| 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; |