| Variant ID | 789 |
|---|---|
| Entrez Gene ID | 80063 |
| Gene | ATF7IP2 (GeneCards) |
| Location | hg19 16:10532037-10532037
hg38 16:10438180-10438180 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.10532037 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 347 |
| Amino acid changes in protein | R > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7071 |
| CADD Raw score (version 1.3) | 6.145883 (Deleterious) |
| FATHMM raw prediction score | 0.91593 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.989 (Deleterious) |
| MutatioinAssessor score | 1.895 (Tolerated) |
| PROVEAN score | -3.21 (Deleterious) |
| MetaSVM score | -0.659 (Tolerated) |
| MetaLR score | 0.233 (Tolerated) |
| MCAP score | 0.034 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.809 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.012 |
| Deleterious probability by iFish2 | 0.5045 (Deleterious) |
| Deleterious probability by DeFine | 0.9426 (Deleterious) |
| Entrez Gene ID | 80063 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATF7IP2 (GeneCards) |
| Number of variants in ATF7IP2 in this database | 1 (view all the variants) |
| Full name | activating transcription factor 7 interacting protein 2 |
| Band | 16p13.2-p13.13 |
| Other IDs | Vega: OTTHUMG00000129749 OMIM: 613645 HGNC: HGNC:20397 Ensembl: ENSG00000166669 |
| Other names | MCAF2 |
| Summary | None |
| Individual ID | 27788131.01 (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; |