Overview

Variant ID 993
Entrez Gene ID 5783
Gene PTPN13 (GeneCards)
Location hg19 4:87622902-87622902
hg38 4:86701749-86701749
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000004.11:g.87622902 C>T (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 381
Amino acid changes in protein I > I
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.421
CADD Raw score (version 1.3) 1.364973 (Deleterious)
FATHMM raw prediction score 0.96268 (Tolerated)
Deleterious probability by DeFine 0.8006 (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 #1

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

Publication #1: 27788131

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;