| Variant ID | 994 |
|---|---|
| Entrez Gene ID | 5311 |
| Gene | PKD2 (GeneCards) |
| Location | hg19 4:88964601-88964601
hg38 4:88043449-88043449 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.88964601 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 437 |
| Amino acid changes in protein | C > W |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.161 |
| CADD Raw score (version 1.3) | 4.867089 (Deleterious) |
| FATHMM raw prediction score | 0.68085 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.215 (Deleterious) |
| PROVEAN score | -10.11 (Deleterious) |
| MetaSVM score | 0.17 (Deleterious) |
| MetaLR score | 0.581 (Deleterious) |
| MCAP score | 0.669 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.213 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.577 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.36 |
| Deleterious probability by iFish2 | 0.2096 (Neutral) |
| Deleterious probability by DeFine | 0.7622 (Deleterious) |
| Entrez Gene ID | 5311 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PKD2 (GeneCards) |
| Number of variants in PKD2 in this database | 2 (view all the variants) |
| Full name | polycystin 2, transient receptor potential cation channel |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000160982 OMIM: 173910 HGNC: HGNC:9009 Ensembl: ENSG00000118762 |
| Other names | PC2, PKD4, Pc-2, APKD2, TRPP2 |
| Summary | This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] |
| 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; |