mutLBSgeneDB |
Gene summary for PTPN13 |
Gene summary |
Basic gene Info. | Gene symbol | PTPN13 |
Gene name | protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) | |
Synonyms | FAP-1|PNP1|PTP-BAS|PTP-BL|PTP1E|PTPL1|PTPLE|hPTP1E | |
Cytomap | UCSC genome browser: 4q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_006264.2, NM_080683.2,NM_080684.2,NM_080685.2, | |
Description | fas-associated protein-tyrosine phosphatase 1hPTPE1protein-tyrosine phosphatase 1Eprotein-tyrosine phosphatase PTPL1tyrosine-protein phosphatase non-receptor type 13 | |
Modification date | 20141207 | |
dbXrefs | MIM : 600267 | |
HGNC : HGNC | ||
Ensembl : ENSG00000163629 | ||
HPRD : 02602 | ||
Vega : OTTHUMG00000160968 | ||
Protein | UniProt: Q12923 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PTPN13 | |
BioGPS: 5783 | ||
Pathway | NCI Pathway Interaction Database: PTPN13 | |
KEGG: PTPN13 | ||
REACTOME: PTPN13 | ||
Pathway Commons: PTPN13 | ||
Context | iHOP: PTPN13 | |
ligand binding site mutation search in PubMed: PTPN13 | ||
UCL Cancer Institute: PTPN13 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006470 | protein dephosphorylation | 17657516 | GO:0014066 | regulation of phosphatidylinositol 3-kinase signaling | 23604317 |
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Ligand binding site mutations for PTPN13 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | Q2310 | Q2310E | BRCA | 1 | C2408 | T2406M | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for PTPN13 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | C2408 | T2406M | -1.1262271 | Q2310 | Q2310E | -0.13933515 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for PTPN13 from PDB |
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Differential gene expression and gene-gene network for PTPN13 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for PTPN13 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0031117 | Peripheral Nervous System Diseases | 2 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PTPN13 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of PTPN13 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PO4 | PHOSPHATE ION | 1wch | A | C2408 | PO4 | PHOSPHATE ION | 1wch | A | Q2310 |
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Conservation information for LBS of PTPN13 |
Multiple alignments for Q12923 in multiple species |
LBS | AA sequence | # species | Species |
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