| Variant ID | 830 |
|---|---|
| Entrez Gene ID | 5791 |
| Gene | PTPRE (GeneCards) |
| Location | hg19 10:129839210-129839210
hg38 10:128040946-128040946 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.129839210 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 22 |
| Amino acid changes in protein | G > D |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9499 |
| CADD Raw score (version 1.3) | 0.833818 (Deleterious) |
| FATHMM raw prediction score | 0.02315 (Tolerated) |
| SIFT score | 0.152 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | 0.19 (Tolerated) |
| MetaSVM score | -0.906 (Tolerated) |
| MetaLR score | 0.006 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.294 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.057 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.017 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.155 |
| Deleterious probability by iFish2 | 0.1083 (Neutral) |
| Deleterious probability by DeFine | 0.7526 (Deleterious) |
| Entrez Gene ID | 5791 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRE (GeneCards) |
| Number of variants in PTPRE in this database | 1 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type E |
| Band | 10q26.2 |
| Other IDs | Vega: OTTHUMG00000019254 OMIM: 600926 HGNC: HGNC:9669 Ensembl: ENSG00000132334 |
| Other names | PTPE, HPTPE, R-PTP-EPSILON |
| 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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015] |
| 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; |