| Variant ID | 892 |
|---|---|
| Entrez Gene ID | 5783 |
| Gene | PTPN13 (GeneCards) |
| Location | hg19 4:87643573-87643573
hg38 4:86722420-86722420 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.87643573 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 532 |
| Amino acid changes in protein | Q > * |
| 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 | 1.071 |
| CADD Raw score (version 1.3) | 13.117482 (Deleterious) |
| FATHMM raw prediction score | 0.98705 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.92 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.686 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.48 |
| Deleterious probability by DeFine | 0.928 (Deleterious) |
| Entrez Gene ID | 5783 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPN13 (GeneCards) |
| Number of variants in PTPN13 in this database | 4 (view all the variants) |
| Full name | protein tyrosine phosphatase, non-receptor type 13 |
| Band | 4q21.3 |
| Other IDs | Vega: OTTHUMG00000160968 OMIM: 600267 HGNC: HGNC:9646 Ensembl: ENSG00000163629 |
| Other names | PNP1, FAP-1, PTP1E, PTPL1, PTPLE, PTP-BL, hPTP1E, PTP-BAS |
| Summary | The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 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; |