| Variant ID | 860 |
|---|---|
| Entrez Gene ID | 1857 |
| Gene | DVL3 (GeneCards) |
| Location | hg19 3:183882683-183882683
hg38 3:184164895-184164895 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.183882683 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 188 |
| Amino acid changes in protein | S > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3438 |
| CADD Raw score (version 1.3) | 5.157799 (Deleterious) |
| FATHMM raw prediction score | 0.94197 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.38 (Tolerated) |
| PROVEAN score | -2.5 (Deleterious) |
| MetaSVM score | -1.129 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.713 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.252 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.742 |
| Deleterious probability by iFish2 | 0.8523 (Deleterious) |
| Deleterious probability by DeFine | 0.9422 (Deleterious) |
| Entrez Gene ID | 1857 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DVL3 (GeneCards) |
| Number of variants in DVL3 in this database | 2 (view all the variants) |
| Full name | dishevelled segment polarity protein 3 |
| Band | 3q27.1 |
| Other IDs | Vega: OTTHUMG00000156841 OMIM: 601368 HGNC: HGNC:3087 Ensembl: ENSG00000161202 |
| Other names | DRS3 |
| Summary | This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] |
| 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; |