| Variant ID | 1135 |
|---|---|
| Entrez Gene ID | 148066 |
| Gene | ZNRF4 (GeneCards) |
| Location | hg19 19:5456266-5456266
hg38 19:5456255-5456255 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.5456266 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 255 |
| Amino acid changes in protein | S > F |
| 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 | -0.5588 |
| CADD Raw score (version 1.3) | 2.419905 (Deleterious) |
| FATHMM raw prediction score | 0.042 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0.005 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -1.45 (Tolerated) |
| MetaSVM score | -0.998 (Tolerated) |
| MetaLR score | 0.015 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.403 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.746 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.033 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.614 |
| Deleterious probability by iFish2 | 0.0174 (Neutral) |
| Deleterious probability by DeFine | 0.9114 (Deleterious) |
| Entrez Gene ID | 148066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNRF4 (GeneCards) |
| Number of variants in ZNRF4 in this database | 1 (view all the variants) |
| Full name | zinc and ring finger 4 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180356 OMIM: 612063 HGNC: HGNC:17726 Ensembl: ENSG00000105428 |
| Other names | spzn, RNF204, Ssrzf1, SPERIZIN |
| 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; |