| Variant ID | 785 |
|---|---|
| Entrez Gene ID | 57623 |
| Gene | ZFAT (GeneCards) |
| Location | hg19 8:135649922-135649922
hg38 8:134637679-134637679 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.135649922 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 65 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5974 |
| CADD Raw score (version 1.3) | 6.245623 (Deleterious) |
| FATHMM raw prediction score | 0.97735 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.255 (Deleterious) |
| PROVEAN score | -3.27 (Deleterious) |
| MetaSVM score | -0.267 (Tolerated) |
| MetaLR score | 0.415 (Tolerated) |
| MCAP score | 0.12 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.843 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.468 |
| Deleterious probability by iFish2 | 0.2424 (Neutral) |
| Deleterious probability by DeFine | 0.962 (Deleterious) |
| Entrez Gene ID | 57623 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZFAT (GeneCards) |
| Number of variants in ZFAT in this database | 6 (view all the variants) |
| Full name | zinc finger and AT-hook domain containing |
| Band | 8q24.22 |
| Other IDs | Vega: OTTHUMG00000164321 OMIM: 610931 HGNC: HGNC:19899 Ensembl: ENSG00000066827 |
| Other names | AITD3, ZFAT1, ZNF406 |
| Summary | This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] |
| 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; |