| Variant ID | 1050 |
|---|---|
| Entrez Gene ID | 83889 |
| Gene | WDR87 (GeneCards) |
| Location | hg19 19:38383380-38383380
hg38 19:37892740-37892740 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.38383380 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 949 |
| Amino acid changes in protein | G > E |
| 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 | 0.6602 |
| CADD Raw score (version 1.3) | 4.804681 (Deleterious) |
| FATHMM raw prediction score | 0.71665 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.877 (Deleterious) |
| MutatioinAssessor score | 2.79 (Deleterious) |
| PROVEAN score | -5.9 (Deleterious) |
| MetaSVM score | 0.11 (Deleterious) |
| MetaLR score | 0.463 (Tolerated) |
| MCAP score | 0.155 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.23 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.989 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.382 |
| Deleterious probability by iFish2 | 0.0159 (Neutral) |
| Deleterious probability by DeFine | 0.9326 (Deleterious) |
| Entrez Gene ID | 83889 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR87 (GeneCards) |
| Number of variants in WDR87 in this database | 4 (view all the variants) |
| Full name | WD repeat domain 87 |
| Band | 19q13.13 |
| Other IDs | Vega: OTTHUMG00000048187 HGNC: HGNC:29934 Ensembl: ENSG00000171804 |
| Other names | NYD-SP11 |
| 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; |