| Variant ID | 1002 |
|---|---|
| Entrez Gene ID | 5796 |
| Gene | PTPRK (GeneCards) |
| Location | hg19 6:128306968-128306968
hg38 6:127985823-127985823 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.128306968 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1072 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1304 |
| CADD Raw score (version 1.3) | 6.857679 (Deleterious) |
| FATHMM raw prediction score | 0.99259 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.945 (Deleterious) |
| PROVEAN score | -8.18 (Deleterious) |
| MetaSVM score | -0.056 (Tolerated) |
| MetaLR score | 0.379 (Tolerated) |
| MCAP score | 0.284 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.425 |
| Deleterious probability by iFish2 | 0.9758 (Deleterious) |
| Deleterious probability by DeFine | 0.9536 (Deleterious) |
| Entrez Gene ID | 5796 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRK (GeneCards) |
| Number of variants in PTPRK in this database | 8 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type K |
| Band | 6q22.33 |
| Other IDs | Vega: OTTHUMG00000015536 OMIM: 602545 HGNC: HGNC:9674 Ensembl: ENSG00000152894 |
| Other names | R-PTP-kappa |
| Summary | The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] |
| 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; |