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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PTPN13 |
 Gene summary |
| Gene information | Gene symbol | PTPN13 | Gene ID | 5783 |
| Gene name | protein tyrosine phosphatase, non-receptor type 13 | |
| Synonyms | FAP-1|PNP1|PTP-BAS|PTP-BL|PTP1E|PTPL1|PTPLE|hPTP1E | |
| Cytomap | 4q21.3 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 13fas-associated protein-tyrosine phosphatase 1hPTPE1protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)protein-tyrosine phosphatase 1Eprotein-tyrosine phosphatas | |
| Modification date | 20180519 | |
| UniProtAcc | Q12923 | |
| Context | PubMed: PTPN13 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PTPN13 | GO:0006470 | protein dephosphorylation | 17657516 |
| PTPN13 | GO:0014066 | regulation of phosphatidylinositol 3-kinase signaling | 23604317 |
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Exon skipping events across known transcript of Ensembl for PTPN13 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for PTPN13 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PTPN13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424800 | 4 | 87515884:87515942:87556404:87556524:87593517:87593696 | 87556404:87556524 | ENSG00000163629.8 | ENST00000436978.1,ENST00000411767.2,ENST00000316707.6,ENST00000502971.1 |
| exon_skip_424801 | 4 | 87556404:87556524:87593517:87593696:87607862:87607928 | 87593517:87593696 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6,ENST00000502971.1,ENST00000507902.1 |
| exon_skip_424802 | 4 | 87593517:87593696:87607862:87607928:87610157:87610214 | 87607862:87607928 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6,ENST00000502971.1,ENST00000507902.1 |
| exon_skip_424809 | 4 | 87610157:87610343:87614739:87614827:87622393:87622954 | 87614739:87614827 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424814 | 4 | 87614739:87614827:87622393:87622954:87637682:87637778 | 87622393:87622954 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424816 | 4 | 87643364:87643587:87653552:87653627:87653744:87653919 | 87653552:87653627 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424817 | 4 | 87656746:87656899:87662786:87662969:87666118:87666281 | 87662786:87662969 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424818 | 4 | 87662786:87662969:87666118:87666281:87671622:87672040 | 87666118:87666281 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2 |
| exon_skip_424821 | 4 | 87666118:87666281:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000316707.6 |
| exon_skip_424822 | 4 | 87672179:87672277:87674161:87674218:87679412:87679502 | 87674161:87674218 | ENSG00000163629.8 | ENST00000511467.1,ENST00000436978.1,ENST00000411767.2 |
| exon_skip_424824 | 4 | 87672179:87672277:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000427191.2 |
| exon_skip_424825 | 4 | 87674161:87674218:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000511467.1,ENST00000436978.1,ENST00000411767.2 |
| exon_skip_424827 | 4 | 87680094:87680226:87683879:87684343:87685745:87685877 | 87683879:87684343 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424828 | 4 | 87687584:87687670:87688969:87689129:87690921:87691136 | 87688969:87689129 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424832 | 4 | 87688969:87689129:87690921:87691136:87691253:87691352 | 87690921:87691136 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424836 | 4 | 87690921:87691136:87691253:87691352:87692323:87692688 | 87691253:87691352 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424838 | 4 | 87703353:87703415:87705617:87705711:87706383:87706521 | 87705617:87705711 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| exon_skip_424841 | 4 | 87718026:87718082:87720253:87720357:87724861:87725010 | 87720253:87720357 | ENSG00000163629.8 | ENST00000511467.1,ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000316707.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTPN13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424800 | 4 | 87515884:87515942:87556404:87556524:87593517:87593696 | 87556404:87556524 | ENSG00000163629.8 | ENST00000436978.1,ENST00000502971.1,ENST00000316707.6,ENST00000411767.2 |
| exon_skip_424801 | 4 | 87556404:87556524:87593517:87593696:87607862:87607928 | 87593517:87593696 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000502971.1,ENST00000316707.6,ENST00000411767.2,ENST00000507902.1,ENST00000511467.1 |
| exon_skip_424802 | 4 | 87593517:87593696:87607862:87607928:87610157:87610214 | 87607862:87607928 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000502971.1,ENST00000316707.6,ENST00000411767.2,ENST00000507902.1,ENST00000511467.1 |
| exon_skip_424809 | 4 | 87610157:87610343:87614739:87614827:87622393:87622954 | 87614739:87614827 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424814 | 4 | 87614739:87614827:87622393:87622954:87637682:87637778 | 87622393:87622954 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424816 | 4 | 87643364:87643587:87653552:87653627:87653744:87653919 | 87653552:87653627 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424817 | 4 | 87656746:87656899:87662786:87662969:87666118:87666281 | 87662786:87662969 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424818 | 4 | 87662786:87662969:87666118:87666281:87671622:87672040 | 87666118:87666281 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424821 | 4 | 87666118:87666281:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000316707.6 |
| exon_skip_424822 | 4 | 87672179:87672277:87674161:87674218:87679412:87679502 | 87674161:87674218 | ENSG00000163629.8 | ENST00000436978.1,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424824 | 4 | 87672179:87672277:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000427191.2 |
| exon_skip_424825 | 4 | 87674161:87674218:87679412:87679502:87679830:87679938 | 87679412:87679502 | ENSG00000163629.8 | ENST00000436978.1,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424827 | 4 | 87680094:87680226:87683879:87684343:87685745:87685877 | 87683879:87684343 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424828 | 4 | 87687584:87687670:87688969:87689129:87690921:87691136 | 87688969:87689129 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424832 | 4 | 87688969:87689129:87690921:87691136:87691253:87691352 | 87690921:87691136 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424836 | 4 | 87690921:87691136:87691253:87691352:87692323:87692688 | 87691253:87691352 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424838 | 4 | 87703353:87703415:87705617:87705711:87706383:87706521 | 87705617:87705711 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| exon_skip_424841 | 4 | 87718026:87718082:87720253:87720357:87724861:87725010 | 87720253:87720357 | ENSG00000163629.8 | ENST00000427191.2,ENST00000436978.1,ENST00000316707.6,ENST00000411767.2,ENST00000511467.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PTPN13 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000411767 | 87556404 | 87556524 | 5CDS-5UTR |
| ENST00000411767 | 87593517 | 87593696 | Frame-shift |
| ENST00000411767 | 87614739 | 87614827 | Frame-shift |
| ENST00000411767 | 87666118 | 87666281 | Frame-shift |
| ENST00000411767 | 87683879 | 87684343 | Frame-shift |
| ENST00000411767 | 87688969 | 87689129 | Frame-shift |
| ENST00000411767 | 87690921 | 87691136 | Frame-shift |
| ENST00000411767 | 87705617 | 87705711 | Frame-shift |
| ENST00000411767 | 87720253 | 87720357 | Frame-shift |
| ENST00000411767 | 87607862 | 87607928 | In-frame |
| ENST00000411767 | 87622393 | 87622954 | In-frame |
| ENST00000411767 | 87653552 | 87653627 | In-frame |
| ENST00000411767 | 87662786 | 87662969 | In-frame |
| ENST00000411767 | 87674161 | 87674218 | In-frame |
| ENST00000411767 | 87679412 | 87679502 | In-frame |
| ENST00000411767 | 87691253 | 87691352 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000411767 | 87556404 | 87556524 | 5CDS-5UTR |
| ENST00000411767 | 87593517 | 87593696 | Frame-shift |
| ENST00000411767 | 87614739 | 87614827 | Frame-shift |
| ENST00000411767 | 87666118 | 87666281 | Frame-shift |
| ENST00000411767 | 87683879 | 87684343 | Frame-shift |
| ENST00000411767 | 87688969 | 87689129 | Frame-shift |
| ENST00000411767 | 87690921 | 87691136 | Frame-shift |
| ENST00000411767 | 87705617 | 87705711 | Frame-shift |
| ENST00000411767 | 87720253 | 87720357 | Frame-shift |
| ENST00000411767 | 87607862 | 87607928 | In-frame |
| ENST00000411767 | 87622393 | 87622954 | In-frame |
| ENST00000411767 | 87653552 | 87653627 | In-frame |
| ENST00000411767 | 87662786 | 87662969 | In-frame |
| ENST00000411767 | 87674161 | 87674218 | In-frame |
| ENST00000411767 | 87679412 | 87679502 | In-frame |
| ENST00000411767 | 87691253 | 87691352 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PTPN13 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000411767 | 8136 | 2485 | 87607862 | 87607928 | 358 | 423 | 98 | 120 |
| ENST00000411767 | 8136 | 2485 | 87622393 | 87622954 | 698 | 1258 | 211 | 398 |
| ENST00000411767 | 8136 | 2485 | 87653552 | 87653627 | 1672 | 1746 | 536 | 561 |
| ENST00000411767 | 8136 | 2485 | 87662786 | 87662969 | 2368 | 2550 | 768 | 829 |
| ENST00000411767 | 8136 | 2485 | 87674161 | 87674218 | 3230 | 3286 | 1055 | 1074 |
| ENST00000411767 | 8136 | 2485 | 87679412 | 87679502 | 3287 | 3376 | 1074 | 1104 |
| ENST00000411767 | 8136 | 2485 | 87691253 | 87691352 | 4768 | 4866 | 1568 | 1601 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000411767 | 8136 | 2485 | 87607862 | 87607928 | 358 | 423 | 98 | 120 |
| ENST00000411767 | 8136 | 2485 | 87622393 | 87622954 | 698 | 1258 | 211 | 398 |
| ENST00000411767 | 8136 | 2485 | 87653552 | 87653627 | 1672 | 1746 | 536 | 561 |
| ENST00000411767 | 8136 | 2485 | 87662786 | 87662969 | 2368 | 2550 | 768 | 829 |
| ENST00000411767 | 8136 | 2485 | 87674161 | 87674218 | 3230 | 3286 | 1055 | 1074 |
| ENST00000411767 | 8136 | 2485 | 87679412 | 87679502 | 3287 | 3376 | 1074 | 1104 |
| ENST00000411767 | 8136 | 2485 | 87691253 | 87691352 | 4768 | 4866 | 1568 | 1601 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for PTPN13 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424801 | 87593518 | 87593696 | 87593559 | 87593559 | Frame_Shift_Del | C | - | p.P53fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424802 | 87607863 | 87607928 | 87607897 | 87607897 | Frame_Shift_Del | G | - | p.W110fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_424802 | 87607863 | 87607928 | 87607897 | 87607897 | Frame_Shift_Del | G | - | p.W110fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424802 | 87607863 | 87607928 | 87607897 | 87607897 | Frame_Shift_Del | G | - | p.W110fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424802 | 87607863 | 87607928 | 87607897 | 87607897 | Frame_Shift_Del | G | - | p.W110fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_424817 | 87662787 | 87662969 | 87662803 | 87662803 | Frame_Shift_Del | C | - | p.T774fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424817 | 87662787 | 87662969 | 87662819 | 87662819 | Frame_Shift_Del | T | - | p.H779fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_424817 | 87662787 | 87662969 | 87662834 | 87662834 | Frame_Shift_Del | C | - | p.H784fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424818 | 87666119 | 87666281 | 87666138 | 87666138 | Frame_Shift_Del | A | - | p.Q836fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424827 | 87683880 | 87684343 | 87684035 | 87684035 | Frame_Shift_Del | G | - | p.G1238fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424828 | 87688970 | 87689129 | 87689079 | 87689079 | Frame_Shift_Del | A | - | p.E1485fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424828 | 87688970 | 87689129 | 87689079 | 87689079 | Frame_Shift_Del | A | - | p.E1485fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424828 | 87688970 | 87689129 | 87689105 | 87689105 | Frame_Shift_Del | A | - | p.K1494fs |
| STAD | TCGA-BR-6452-01 | exon_skip_424832 | 87690922 | 87691136 | 87690974 | 87690974 | Frame_Shift_Del | T | - | p.S1514fs |
| STAD | TCGA-BR-6452-01 | exon_skip_424832 | 87690922 | 87691136 | 87690974 | 87690974 | Frame_Shift_Del | T | - | p.S1519fs |
| COAD | TCGA-CM-6171-01 | exon_skip_424832 | 87690922 | 87691136 | 87691032 | 87691032 | Frame_Shift_Del | A | - | p.V1514fs |
| STAD | TCGA-CG-5726-01 | exon_skip_424832 | 87690922 | 87691136 | 87691032 | 87691032 | Frame_Shift_Del | A | - | p.K1534fs |
| STAD | TCGA-CG-5726-01 | exon_skip_424832 | 87690922 | 87691136 | 87691032 | 87691032 | Frame_Shift_Del | A | - | p.V1538fs |
| STAD | TCGA-BR-8360-01 | exon_skip_424836 | 87691254 | 87691352 | 87691300 | 87691301 | Frame_Shift_Del | TT | - | p.L1584fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424836 | 87691254 | 87691352 | 87691333 | 87691333 | Frame_Shift_Del | A | - | p.E1600fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_424802 | 87607863 | 87607928 | 87607896 | 87607897 | Frame_Shift_Ins | - | G | p.W110fs |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_424814 | 87622394 | 87622954 | 87622936 | 87622936 | Nonsense_Mutation | G | T | p.E393* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_424814 | 87622394 | 87622954 | 87622936 | 87622936 | Nonsense_Mutation | G | T | p.E393X |
| UCEC | TCGA-AP-A051-01 | exon_skip_424814 | 87622394 | 87622954 | 87622954 | 87622954 | Nonsense_Mutation | G | T | p.E399* |
| KIRC | TCGA-BP-5168-01 | exon_skip_424825 exon_skip_424824 exon_skip_424821 | 87679413 | 87679502 | 87679432 | 87679432 | Nonsense_Mutation | G | A | p.W1081* |
| KIRC | TCGA-BP-5168-01 | exon_skip_424825 exon_skip_424824 exon_skip_424821 | 87679413 | 87679502 | 87679432 | 87679432 | Nonsense_Mutation | G | A | p.W1081X |
| STAD | TCGA-HU-A4GT-01 | exon_skip_424827 | 87683880 | 87684343 | 87684104 | 87684104 | Nonsense_Mutation | C | T | p.Q1260* |
| STAD | TCGA-HU-A4GT-01 | exon_skip_424827 | 87683880 | 87684343 | 87684104 | 87684104 | Nonsense_Mutation | C | T | p.Q1260X |
| ESCA | TCGA-Z6-A8JD-01 | exon_skip_424827 | 87683880 | 87684343 | 87684273 | 87684273 | Nonsense_Mutation | C | G | p.S1316* |
| ESCA | TCGA-Z6-A8JD-01 | exon_skip_424827 | 87683880 | 87684343 | 87684273 | 87684273 | Nonsense_Mutation | C | G | p.S1316X |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_424827 | 87683880 | 87684343 | 87684281 | 87684281 | Nonsense_Mutation | G | T | p.G1319* |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_424832 | 87690922 | 87691136 | 87690933 | 87690933 | Nonsense_Mutation | G | T | p.E1506X |
| UCEC | TCGA-AP-A056-01 | exon_skip_424832 | 87690922 | 87691136 | 87690981 | 87690981 | Nonsense_Mutation | C | T | p.R1522* |
| BRCA | TCGA-A8-A093-01 | exon_skip_424841 | 87720254 | 87720357 | 87720273 | 87720273 | Nonsense_Mutation | G | T | p.E2146* |
| KIRC | TCGA-CJ-4639-01 | exon_skip_424817 | 87662787 | 87662969 | 87662970 | 87662970 | Splice_Site | G | T | . |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_424817 | 87662787 | 87662969 | 87662971 | 87662971 | Splice_Site | T | C | e15+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LS180_LARGE_INTESTINE | 87622394 | 87622954 | 87622607 | 87622607 | Frame_Shift_Del | A | - | p.E283fs |
| EN_ENDOMETRIUM | 87683880 | 87684343 | 87684171 | 87684172 | Frame_Shift_Ins | - | T | p.S1283fs |
| HCT15_LARGE_INTESTINE | 87556405 | 87556524 | 87556415 | 87556415 | Missense_Mutation | C | G | p.H2Q |
| HEC251_ENDOMETRIUM | 87556405 | 87556524 | 87556470 | 87556470 | Missense_Mutation | A | G | p.I21V |
| MFE319_ENDOMETRIUM | 87556405 | 87556524 | 87556495 | 87556495 | Missense_Mutation | C | T | p.A29V |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 87593518 | 87593696 | 87593581 | 87593581 | Missense_Mutation | C | T | p.P60L |
| HEC1A_ENDOMETRIUM | 87614740 | 87614827 | 87614806 | 87614806 | Missense_Mutation | C | G | p.R205G |
| HEC1_ENDOMETRIUM | 87614740 | 87614827 | 87614806 | 87614806 | Missense_Mutation | C | G | p.R205G |
| NEC8_TESTIS | 87614740 | 87614827 | 87614806 | 87614806 | Missense_Mutation | C | G | p.R205G |
| HEC108_ENDOMETRIUM | 87622394 | 87622954 | 87622415 | 87622415 | Missense_Mutation | T | C | p.V219A |
| SNU81_LARGE_INTESTINE | 87622394 | 87622954 | 87622501 | 87622501 | Missense_Mutation | G | T | p.D248Y |
| COLO680N_OESOPHAGUS | 87622394 | 87622954 | 87622538 | 87622538 | Missense_Mutation | C | T | p.S260L |
| ISTMES1_PLEURA | 87622394 | 87622954 | 87622541 | 87622541 | Missense_Mutation | A | C | p.D261A |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87622394 | 87622954 | 87622549 | 87622549 | Missense_Mutation | G | A | p.G264R |
| AN3CA_ENDOMETRIUM | 87622394 | 87622954 | 87622570 | 87622570 | Missense_Mutation | A | G | p.T271A |
| HCC2998_LARGE_INTESTINE | 87622394 | 87622954 | 87622625 | 87622625 | Missense_Mutation | G | A | p.G289D |
| LOVO_LARGE_INTESTINE | 87622394 | 87622954 | 87622724 | 87622724 | Missense_Mutation | G | A | p.R322H |
| NCIH2286_LUNG | 87622394 | 87622954 | 87622738 | 87622738 | Missense_Mutation | G | A | p.E327K |
| CME1_SOFT_TISSUE | 87622394 | 87622954 | 87622792 | 87622792 | Missense_Mutation | T | A | p.S345T |
| NCIH650_LUNG | 87622394 | 87622954 | 87622804 | 87622804 | Missense_Mutation | A | G | p.I349V |
| KPMRTRY_SOFT_TISSUE | 87622394 | 87622954 | 87622805 | 87622805 | Missense_Mutation | T | C | p.I349T |
| HCT15_LARGE_INTESTINE | 87622394 | 87622954 | 87622889 | 87622889 | Missense_Mutation | C | A | p.A377D |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87622394 | 87622954 | 87622939 | 87622939 | Missense_Mutation | G | A | p.A394T |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87653553 | 87653627 | 87653572 | 87653572 | Missense_Mutation | T | G | p.F543C |
| CAL148_BREAST | 87653553 | 87653627 | 87653589 | 87653589 | Missense_Mutation | G | A | p.E549K |
| NCIH1836_LUNG | 87653553 | 87653627 | 87653600 | 87653600 | Missense_Mutation | A | G | p.I552M |
| NCIN87_STOMACH | 87662787 | 87662969 | 87662886 | 87662886 | Missense_Mutation | G | A | p.V802I |
| HCC2998_LARGE_INTESTINE | 87662787 | 87662969 | 87662954 | 87662954 | Missense_Mutation | G | T | p.K824N |
| NCIH2030_LUNG | 87666119 | 87666281 | 87666187 | 87666187 | Missense_Mutation | G | T | p.K852N |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87666119 | 87666281 | 87666194 | 87666194 | Missense_Mutation | C | A | p.Q855K |
| SNU1197_LARGE_INTESTINE | 87666119 | 87666281 | 87666249 | 87666249 | Missense_Mutation | C | A | p.A873E |
| LOVO_LARGE_INTESTINE | 87683880 | 87684343 | 87683925 | 87683925 | Missense_Mutation | T | C | p.M1200T |
| NCIH345_LUNG | 87683880 | 87684343 | 87683943 | 87683943 | Missense_Mutation | T | G | p.M1206R |
| OVCAR8_OVARY | 87683880 | 87684343 | 87683990 | 87683990 | Missense_Mutation | C | G | p.R1222G |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87683880 | 87684343 | 87684036 | 87684036 | Missense_Mutation | G | A | p.G1237E |
| HUG1N_STOMACH | 87683880 | 87684343 | 87684075 | 87684075 | Missense_Mutation | G | A | p.R1250K |
| COLO668_LUNG | 87683880 | 87684343 | 87684086 | 87684086 | Missense_Mutation | G | A | p.A1254T |
| NCIH1793_LUNG | 87683880 | 87684343 | 87684209 | 87684209 | Missense_Mutation | A | G | p.T1295A |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 87683880 | 87684343 | 87684210 | 87684210 | Missense_Mutation | C | T | p.T1295I |
| ONCODG1_OVARY | 87683880 | 87684343 | 87684213 | 87684213 | Missense_Mutation | T | C | p.F1296S |
| NIHOVCAR3_OVARY | 87683880 | 87684343 | 87684213 | 87684213 | Missense_Mutation | T | C | p.F1296S |
| HCC1569_BREAST | 87683880 | 87684343 | 87684243 | 87684243 | Missense_Mutation | A | G | p.K1306R |
| KMH2_THYROID | 87683880 | 87684343 | 87684323 | 87684323 | Missense_Mutation | G | C | p.D1333H |
| HT115_LARGE_INTESTINE | 87688970 | 87689129 | 87689051 | 87689051 | Missense_Mutation | G | T | p.D1471Y |
| CHLA06ATRT_SOFT_TISSUE | 87688970 | 87689129 | 87689078 | 87689078 | Missense_Mutation | G | A | p.E1480K |
| LNCAPCLONEFGC_PROSTATE | 87690922 | 87691136 | 87691002 | 87691002 | Missense_Mutation | G | A | p.E1524K |
| CAR1_LARGE_INTESTINE | 87690922 | 87691136 | 87691057 | 87691057 | Missense_Mutation | C | T | p.A1542V |
| C80_LARGE_INTESTINE | 87690922 | 87691136 | 87691108 | 87691108 | Missense_Mutation | G | A | p.G1559E |
| TE4_OESOPHAGUS | 87691254 | 87691352 | 87691311 | 87691311 | Missense_Mutation | C | T | p.P1588S |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87691254 | 87691352 | 87691341 | 87691341 | Missense_Mutation | A | G | p.T1598A |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 87720254 | 87720357 | 87720267 | 87720267 | Missense_Mutation | C | T | p.P2139S |
| TUHR4TKB_KIDNEY | 87720254 | 87720357 | 87720286 | 87720286 | Missense_Mutation | A | T | p.D2145V |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87614740 | 87614827 | 87614806 | 87614806 | Nonsense_Mutation | C | T | p.R205* |
| HEC1A_ENDOMETRIUM | 87622394 | 87622954 | 87622483 | 87622483 | Nonsense_Mutation | G | T | p.G242* |
| C33A_CERVIX | 87622394 | 87622954 | 87622903 | 87622903 | Nonsense_Mutation | C | T | p.R382* |
| SW480_LARGE_INTESTINE | 87662787 | 87662969 | 87662826 | 87662826 | Nonsense_Mutation | C | T | p.R782* |
| MELJUSO_SKIN | 87662787 | 87662969 | 87662841 | 87662841 | Nonsense_Mutation | A | T | p.K787* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPN13 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPN13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPN13 |
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RelatedDrugs for PTPN13 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PTPN13 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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