| Variant ID | 1044 |
|---|---|
| Entrez Gene ID | 55628 |
| Gene | ZNF407 (GeneCards) |
| Location | hg19 18:72632600-72632600
hg38 18:74920644-74920644 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.72632600 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1794 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5765 |
| CADD Raw score (version 1.3) | 5.016568 (Deleterious) |
| FATHMM raw prediction score | 0.98536 (Tolerated) |
| SIFT score | 0.046 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 1.59 (Tolerated) |
| PROVEAN score | -1.15 (Tolerated) |
| MetaSVM score | -1.157 (Tolerated) |
| MetaLR score | 0.062 (Tolerated) |
| MCAP score | 0.054 (Deleterious) |
| FitCons score | 0.741 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.825 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.102 |
| Deleterious probability by iFish2 | 0.9924 (Deleterious) |
| Deleterious probability by DeFine | 0.9659 (Deleterious) |
| Entrez Gene ID | 55628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF407 (GeneCards) |
| Number of variants in ZNF407 in this database | 10 (view all the variants) |
| Full name | zinc finger protein 407 |
| Band | 18q22.3 |
| Other IDs | Vega: OTTHUMG00000179122 OMIM: 615894 HGNC: HGNC:19904 Ensembl: ENSG00000215421 |
| Other names | None |
| Summary | This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| 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; |