| Variant ID | 1140 |
|---|---|
| Entrez Gene ID | 25888 |
| Gene | ZNF473 (GeneCards) |
| Location | hg19 19:50549801-50549801
hg38 19:50046544-50046544 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.50549801 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 701 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8216 |
| CADD Raw score (version 1.3) | 1.572268 (Deleterious) |
| FATHMM raw prediction score | 0.00623 (Tolerated) |
| SIFT score | 0.352 (Tolerated) |
| LRT score | 0.734 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.735 (Tolerated) |
| PROVEAN score | -4.77 (Deleterious) |
| MetaSVM score | -0.936 (Tolerated) |
| MetaLR score | 0.005 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.659 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.99 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.915 |
| Deleterious probability by iFish2 | 0.0249 (Neutral) |
| Deleterious probability by DeFine | 0.736 (Deleterious) |
| Entrez Gene ID | 25888 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF473 (GeneCards) |
| Number of variants in ZNF473 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 473 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183054 OMIM: 617908 HGNC: HGNC:23239 Ensembl: ENSG00000142528 |
| Other names | ZN473, ZFP100 |
| Summary | This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016] |
| 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; |