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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 PTPRM |
 Gene summary |
| Gene information | Gene symbol | PTPRM | Gene ID | 5797 |
| Gene name | protein tyrosine phosphatase, receptor type M | |
| Synonyms | PTPRL1|R-PTP-MU|RPTPM|RPTPU|hR-PTPu | |
| Cytomap | 18p11.23 | |
| Type of gene | protein-coding | |
| Description | receptor-type tyrosine-protein phosphatase muprotein tyrosine phosphatase muprotein tyrosine phosphatase, receptor type, mu polypeptide | |
| Modification date | 20180522 | |
| UniProtAcc | P28827 | |
| Context | PubMed: PTPRM [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 |
| PTPRM | GO:0006470 | protein dephosphorylation | 8393854|10809770 |
| PTPRM | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 8393854 |
| PTPRM | GO:0007165 | signal transduction | 15080886 |
| PTPRM | GO:0031175 | neuron projection development | 16380380 |
| PTPRM | GO:0031290 | retinal ganglion cell axon guidance | 15080886 |
| PTPRM | GO:0042493 | response to drug | 18566238 |
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Exon skipping events across known transcript of Ensembl for PTPRM 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 PTPRM |
| 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 PTPRM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295426 | 18 | 7567816:7567889:7774146:7774269:7888103:7888375 | 7774146:7774269 | ENSG00000173482.12 | ENST00000332175.8,ENST00000400060.4 |
| exon_skip_295432 | 18 | 7906502:7906581:7926565:7926681:7949178:7949353 | 7926565:7926681 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000400060.4 |
| exon_skip_295435 | 18 | 7955118:7955412:8069683:8069992:8076452:8076562 | 8069683:8069992 | ENSG00000173482.12 | ENST00000444013.1,ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000400060.4 |
| exon_skip_295436 | 18 | 8076452:8076562:8085668:8085870:8088746:8088849 | 8085668:8085870 | ENSG00000173482.12 | ENST00000444013.1,ENST00000578571.1,ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000400060.4 |
| exon_skip_295438 | 18 | 8114788:8114825:8122239:8122314:8143644:8143776 | 8122239:8122314 | ENSG00000173482.12 | ENST00000583289.1 |
| exon_skip_295440 | 18 | 8244055:8244207:8247842:8247917:8253224:8253412 | 8247842:8247917 | ENSG00000173482.12 | ENST00000444013.1,ENST00000332175.8,ENST00000400053.4 |
| exon_skip_295441 | 18 | 8247871:8247917:8248147:8248174:8252485:8252497 | 8248147:8248174 | ENSG00000173482.12 | ENST00000580170.1 |
| exon_skip_295443 | 18 | 8247871:8247917:8248147:8248174:8296365:8296453 | 8248147:8248174 | ENSG00000173482.12 | ENST00000577468.1 |
| exon_skip_295446 | 18 | 8247871:8247917:8253224:8253412:8296365:8296453 | 8253224:8253412 | ENSG00000173482.12 | ENST00000444013.1,ENST00000332175.8,ENST00000400053.4 |
| exon_skip_295449 | 18 | 8248147:8248174:8252485:8252497:8253224:8253412 | 8252485:8252497 | ENSG00000173482.12 | ENST00000580170.1 |
| exon_skip_295454 | 18 | 8343420:8343518:8370887:8371004:8376043:8376198 | 8370887:8371004 | ENSG00000173482.12 | ENST00000444013.1,ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000577827.1,ENST00000400060.4 |
| exon_skip_295455 | 18 | 8370930:8371004:8371757:8371808:8376043:8376198 | 8371757:8371808 | ENSG00000173482.12 | ENST00000583153.1 |
| exon_skip_295464 | 18 | 8379164:8379338:8380293:8380425:8384558:8384684 | 8380293:8380425 | ENSG00000173482.12 | ENST00000444013.1,ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000577827.1,ENST00000400060.4 |
| exon_skip_295467 | 18 | 8387069:8387233:8394473:8394609:8406106:8406160 | 8394473:8394609 | ENSG00000173482.12 | ENST00000444013.1,ENST00000580170.1,ENST00000332175.8,ENST00000400053.4,ENST00000577827.1,ENST00000400060.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTPRM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295426 | 18 | 7567816:7567889:7774146:7774269:7888103:7888375 | 7774146:7774269 | ENSG00000173482.12 | ENST00000332175.8,ENST00000400060.4 |
| exon_skip_295432 | 18 | 7906502:7906581:7926565:7926681:7949178:7949353 | 7926565:7926681 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4 |
| exon_skip_295435 | 18 | 7955118:7955412:8069683:8069992:8076452:8076562 | 8069683:8069992 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4,ENST00000444013.1 |
| exon_skip_295436 | 18 | 8076452:8076562:8085668:8085870:8088746:8088849 | 8085668:8085870 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4,ENST00000444013.1,ENST00000578571.1 |
| exon_skip_295438 | 18 | 8114788:8114825:8122239:8122314:8143644:8143776 | 8122239:8122314 | ENSG00000173482.12 | ENST00000583289.1 |
| exon_skip_295440 | 18 | 8244055:8244207:8247842:8247917:8253224:8253412 | 8247842:8247917 | ENSG00000173482.12 | ENST00000332175.8,ENST00000400053.4,ENST00000444013.1 |
| exon_skip_295441 | 18 | 8247871:8247917:8248147:8248174:8252485:8252497 | 8248147:8248174 | ENSG00000173482.12 | ENST00000580170.1 |
| exon_skip_295443 | 18 | 8247871:8247917:8248147:8248174:8296365:8296453 | 8248147:8248174 | ENSG00000173482.12 | ENST00000577468.1 |
| exon_skip_295446 | 18 | 8247871:8247917:8253224:8253412:8296365:8296453 | 8253224:8253412 | ENSG00000173482.12 | ENST00000332175.8,ENST00000400053.4,ENST00000444013.1 |
| exon_skip_295449 | 18 | 8248147:8248174:8252485:8252497:8253224:8253412 | 8252485:8252497 | ENSG00000173482.12 | ENST00000580170.1 |
| exon_skip_295454 | 18 | 8343420:8343518:8370887:8371004:8376043:8376198 | 8370887:8371004 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4,ENST00000444013.1,ENST00000577827.1 |
| exon_skip_295455 | 18 | 8370930:8371004:8371757:8371808:8376043:8376198 | 8371757:8371808 | ENSG00000173482.12 | ENST00000583153.1 |
| exon_skip_295464 | 18 | 8379164:8379338:8380293:8380425:8384558:8384684 | 8380293:8380425 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4,ENST00000444013.1,ENST00000577827.1 |
| exon_skip_295467 | 18 | 8387069:8387233:8394473:8394609:8406106:8406160 | 8394473:8394609 | ENSG00000173482.12 | ENST00000580170.1,ENST00000332175.8,ENST00000400060.4,ENST00000400053.4,ENST00000444013.1,ENST00000577827.1 |
| 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 PTPRM |
| 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 |
| ENST00000332175 | 7926565 | 7926681 | Frame-shift |
| ENST00000332175 | 8085668 | 8085870 | Frame-shift |
| ENST00000332175 | 8253224 | 8253412 | Frame-shift |
| ENST00000332175 | 8394473 | 8394609 | Frame-shift |
| ENST00000332175 | 7774146 | 7774269 | In-frame |
| ENST00000332175 | 8069683 | 8069992 | In-frame |
| ENST00000332175 | 8247842 | 8247917 | In-frame |
| ENST00000332175 | 8370887 | 8371004 | In-frame |
| ENST00000332175 | 8380293 | 8380425 | 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 |
| ENST00000332175 | 7926565 | 7926681 | Frame-shift |
| ENST00000332175 | 8085668 | 8085870 | Frame-shift |
| ENST00000332175 | 8253224 | 8253412 | Frame-shift |
| ENST00000332175 | 8394473 | 8394609 | Frame-shift |
| ENST00000332175 | 7774146 | 7774269 | In-frame |
| ENST00000332175 | 8069683 | 8069992 | In-frame |
| ENST00000332175 | 8247842 | 8247917 | In-frame |
| ENST00000332175 | 8370887 | 8371004 | In-frame |
| ENST00000332175 | 8380293 | 8380425 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PTPRM |
| 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 |
| ENST00000332175 | 6112 | 1452 | 7774146 | 7774269 | 1111 | 1233 | 24 | 65 |
| ENST00000332175 | 6112 | 1452 | 8069683 | 8069992 | 2170 | 2478 | 377 | 480 |
| ENST00000332175 | 6112 | 1452 | 8247842 | 8247917 | 3490 | 3564 | 817 | 842 |
| ENST00000332175 | 6112 | 1452 | 8370887 | 8371004 | 4053 | 4169 | 1005 | 1044 |
| ENST00000332175 | 6112 | 1452 | 8380293 | 8380425 | 4785 | 4916 | 1249 | 1293 |
| 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 |
| ENST00000332175 | 6112 | 1452 | 7774146 | 7774269 | 1111 | 1233 | 24 | 65 |
| ENST00000332175 | 6112 | 1452 | 8069683 | 8069992 | 2170 | 2478 | 377 | 480 |
| ENST00000332175 | 6112 | 1452 | 8247842 | 8247917 | 3490 | 3564 | 817 | 842 |
| ENST00000332175 | 6112 | 1452 | 8370887 | 8371004 | 4053 | 4169 | 1005 | 1044 |
| ENST00000332175 | 6112 | 1452 | 8380293 | 8380425 | 4785 | 4916 | 1249 | 1293 |
| 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 |
| P28827 | 24 | 65 | 29 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 42 | 45 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 49 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 24 | 65 | 27 | 36 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:16456543;Dbxref=PMID:16456543 |
| P28827 | 24 | 65 | 22 | 184 | Domain | Note=MAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 |
| P28827 | 24 | 65 | 33 | 36 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 39 | 39 | Natural variant | ID=VAR_046634;Note=S->R;Dbxref=dbSNP:rs35224276 |
| P28827 | 24 | 65 | 21 | 742 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 24 | 65 | 53 | 55 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 377 | 480 | 384 | 391 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 396 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 410 | 412 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 414 | 434 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 443 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 454 | 462 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 467 | 469 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 473 | 476 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 377 | 480 | 284 | 379 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P28827 | 377 | 480 | 382 | 480 | Domain | Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P28827 | 377 | 480 | 406 | 406 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 414 | 414 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 454 | 454 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 405 | 408 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 21 | 742 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 817 | 842 | 842 | 842 | Alternative sequence | ID=VSP_046677;Note=In isoform 2. P->PDPFVPTAILVPIN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P28827 | 817 | 842 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 817 | 842 | 821 | 821 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P28827 | 817 | 842 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 1005 | 1044 | 1014 | 1019 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 1022 | 1032 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 1035 | 1044 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 1005 | 1044 | 900 | 1154 | Domain | Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
| P28827 | 1005 | 1044 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 1249 | 1293 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 1249 | 1293 | 1186 | 1448 | Domain | Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
| P28827 | 1249 | 1293 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P28827 | 24 | 65 | 29 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 42 | 45 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 49 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 24 | 65 | 27 | 36 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:16456543;Dbxref=PMID:16456543 |
| P28827 | 24 | 65 | 22 | 184 | Domain | Note=MAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 |
| P28827 | 24 | 65 | 33 | 36 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 24 | 65 | 39 | 39 | Natural variant | ID=VAR_046634;Note=S->R;Dbxref=dbSNP:rs35224276 |
| P28827 | 24 | 65 | 21 | 742 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 24 | 65 | 53 | 55 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C9A |
| P28827 | 377 | 480 | 384 | 391 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 396 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 410 | 412 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 414 | 434 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 443 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 454 | 462 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 467 | 469 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 473 | 476 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 377 | 480 | 284 | 379 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P28827 | 377 | 480 | 382 | 480 | Domain | Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P28827 | 377 | 480 | 406 | 406 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 414 | 414 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 454 | 454 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 377 | 480 | 405 | 408 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V5Y |
| P28827 | 377 | 480 | 21 | 742 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 817 | 842 | 842 | 842 | Alternative sequence | ID=VSP_046677;Note=In isoform 2. P->PDPFVPTAILVPIN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P28827 | 817 | 842 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 817 | 842 | 821 | 821 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P28827 | 817 | 842 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 1005 | 1044 | 1014 | 1019 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 1022 | 1032 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 1035 | 1044 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM |
| P28827 | 1005 | 1044 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 1005 | 1044 | 900 | 1154 | Domain | Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
| P28827 | 1005 | 1044 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P28827 | 1249 | 1293 | 21 | 1452 | Chain | ID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu |
| P28827 | 1249 | 1293 | 1186 | 1448 | Domain | Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
| P28827 | 1249 | 1293 | 765 | 1452 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PTPRM |
| - 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. |
PTPRM_KIRP_exon_skip_295426_psi_boxplot.png |
PTPRM_SKCM_exon_skip_295454_psi_boxplot.png |
| - 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 |
| KIRC | TCGA-AK-3426-01 | exon_skip_295432 | 7926566 | 7926681 | 7926652 | 7926656 | Frame_Shift_Del | ACCGT | - | p.211_213del |
| KIRC | TCGA-B2-3923-01 | exon_skip_295432 | 7926566 | 7926681 | 7926652 | 7926656 | Frame_Shift_Del | ACCGT | - | p.211_213del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295436 | 8085669 | 8085870 | 8085765 | 8085765 | Frame_Shift_Del | T | - | p.F551fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295436 | 8085669 | 8085870 | 8085845 | 8085845 | Frame_Shift_Del | A | - | p.T576fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_295440 | 8247843 | 8247917 | 8247872 | 8247872 | Frame_Shift_Del | A | - | p.K828fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295441 exon_skip_295443 | 8248148 | 8248174 | 8248169 | 8248169 | Frame_Shift_Del | T | - | p.I850fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295446 | 8253225 | 8253412 | 8253270 | 8253270 | Frame_Shift_Del | C | - | p.S858fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_295467 | 8394474 | 8394609 | 8394556 | 8394556 | Frame_Shift_Del | T | - | p.F1418fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_295436 | 8085669 | 8085870 | 8085764 | 8085765 | Frame_Shift_Ins | - | T | p.L549fs |
| COAD | TCGA-CA-6717-01 | exon_skip_295435 | 8069684 | 8069992 | 8069839 | 8069839 | Nonsense_Mutation | C | T | p.R430X |
| LGG | TCGA-DU-6392-01 | exon_skip_295435 | 8069684 | 8069992 | 8069839 | 8069839 | Nonsense_Mutation | C | T | p.R430* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_295435 | 8069684 | 8069992 | 8069839 | 8069839 | Nonsense_Mutation | C | T | p.R430* |
| BLCA | TCGA-XF-A9T5-01 | exon_skip_295435 | 8069684 | 8069992 | 8069870 | 8069870 | Nonsense_Mutation | C | G | p.S440* |
| LUSC | TCGA-60-2724-01 | exon_skip_295435 | 8069684 | 8069992 | 8069965 | 8069965 | Nonsense_Mutation | G | T | p.E472* |
| STAD | TCGA-HF-A5NB-01 | exon_skip_295436 | 8085669 | 8085870 | 8085807 | 8085807 | Nonsense_Mutation | C | T | p.R564* |
| STAD | TCGA-HF-A5NB-01 | exon_skip_295436 | 8085669 | 8085870 | 8085807 | 8085807 | Nonsense_Mutation | C | T | p.R564X |
| KIRP | TCGA-UZ-A9PO-01 | exon_skip_295464 | 8380294 | 8380425 | 8380303 | 8380303 | Nonsense_Mutation | C | T | p.Q1266X |
| SARC | TCGA-DX-A48V-01 | exon_skip_295464 | 8380294 | 8380425 | 8380423 | 8380423 | Nonsense_Mutation | C | T | p.Q1293* |
| SARC | TCGA-DX-A48V-01 | exon_skip_295464 | 8380294 | 8380425 | 8380423 | 8380423 | Nonsense_Mutation | C | T | p.Q1307* |
| KIRP | TCGA-Y8-A897-01 | exon_skip_295426 | 7774147 | 7774269 | 7774145 | 7774145 | Splice_Site | A | C | . |
| CESC | TCGA-FU-A23K-01 | exon_skip_295449 | 8252486 | 8252497 | 8252485 | 8252485 | Splice_Site | G | T | e18-1 |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_295454 | 8370888 | 8371004 | 8370887 | 8370887 | Splice_Site | G | A | . |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_295464 | 8380294 | 8380425 | 8380293 | 8380293 | Splice_Site | G | T | . |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_295464 | 8380294 | 8380425 | 8380293 | 8380293 | Splice_Site | G | T | e29-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2MD-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_295454 | |
| Skipped exon start: 8370888 | |
| Skipped exon end: 8371004 | |
| Mutation start: 8370887 | |
| Mutation end: 8370887 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_141897_SKCM_TCGA-EE-A2MD-06.png | |
exon_skip_295454_SKCM_TCGA-EE-A2MD-06.png | |
exon_skip_447822_SKCM_TCGA-EE-A2MD-06.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_295443 | |
| Skipped exon start: 8248148 | |
| Skipped exon end: 8248174 | |
| Mutation start: 8248169 | |
| Mutation end: 8248169 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I850fs | |
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 | Sample: TCGA-Y8-A897-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_295426 | |
| Skipped exon start: 7774147 | |
| Skipped exon end: 7774269 | |
| Mutation start: 7774145 | |
| Mutation end: 7774145 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_295426_KIRP_TCGA-Y8-A897-01.png | |
| - 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 |
| HCC366_LUNG | 8394474 | 8394609 | 8394556 | 8394556 | Frame_Shift_Del | T | - | p.F1418fs |
| HKA1_SKIN | 8069684 | 8069992 | 8069731 | 8069731 | Missense_Mutation | C | T | p.R394W |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 8069684 | 8069992 | 8069752 | 8069752 | Missense_Mutation | G | A | p.E401K |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 8069684 | 8069992 | 8069752 | 8069752 | Missense_Mutation | G | A | p.E401K |
| ES1_BONE | 8069684 | 8069992 | 8069809 | 8069809 | Missense_Mutation | T | C | p.C420R |
| KYSE520_OESOPHAGUS | 8069684 | 8069992 | 8069927 | 8069927 | Missense_Mutation | T | G | p.L459R |
| 2313287_STOMACH | 8069684 | 8069992 | 8069948 | 8069948 | Missense_Mutation | G | A | p.G466D |
| SLR26_KIDNEY | 8069684 | 8069992 | 8069985 | 8069985 | Missense_Mutation | T | A | p.D478E |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8085669 | 8085870 | 8085778 | 8085778 | Missense_Mutation | A | G | p.Y554C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8085669 | 8085870 | 8085795 | 8085795 | Missense_Mutation | T | G | p.S560A |
| SCMCRM2_SOFT_TISSUE | 8085669 | 8085870 | 8085843 | 8085843 | Missense_Mutation | A | G | p.T576A |
| HEC251_ENDOMETRIUM | 8085669 | 8085870 | 8085867 | 8085867 | Missense_Mutation | T | G | p.S584A |
| HOS_BONE | 8247843 | 8247917 | 8247900 | 8247900 | Missense_Mutation | C | A | p.P837H |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8253225 | 8253412 | 8253242 | 8253242 | Missense_Mutation | G | A | p.A849T |
| YD8_UPPER_AERODIGESTIVE_TRACT | 8253225 | 8253412 | 8253248 | 8253248 | Missense_Mutation | G | A | p.D851N |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 8253225 | 8253412 | 8253257 | 8253257 | Missense_Mutation | A | G | p.S854G |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8253225 | 8253412 | 8253275 | 8253275 | Missense_Mutation | A | G | p.T860A |
| A101D_SKIN | 8253225 | 8253412 | 8253311 | 8253311 | Missense_Mutation | C | G | p.Q872E |
| HS294T_SKIN | 8253225 | 8253412 | 8253311 | 8253311 | Missense_Mutation | C | G | p.Q872E |
| SCMCRM2_SOFT_TISSUE | 8253225 | 8253412 | 8253323 | 8253323 | Missense_Mutation | C | A | p.L876I |
| FTC238_THYROID | 8253225 | 8253412 | 8253332 | 8253332 | Missense_Mutation | G | A | p.A879T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8253225 | 8253412 | 8253332 | 8253332 | Missense_Mutation | G | A | p.A879T |
| FTC133_THYROID | 8253225 | 8253412 | 8253332 | 8253332 | Missense_Mutation | G | A | p.A879T |
| A2058_SKIN | 8253225 | 8253412 | 8253395 | 8253395 | Missense_Mutation | T | A | p.F900I |
| EN_ENDOMETRIUM | 8370888 | 8371004 | 8370904 | 8370904 | Missense_Mutation | A | G | p.Y1011C |
| GP5D_LARGE_INTESTINE | 8370888 | 8371004 | 8370918 | 8370918 | Missense_Mutation | A | G | p.T1016A |
| NCIH2009_LUNG | 8370888 | 8371004 | 8370982 | 8370982 | Missense_Mutation | T | A | p.I1037K |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8370888 | 8371004 | 8370999 | 8370999 | Missense_Mutation | G | A | p.E1043K |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8394474 | 8394609 | 8394478 | 8394478 | Missense_Mutation | G | A | p.G1392R |
| SNU16_STOMACH | 8394474 | 8394609 | 8394505 | 8394505 | Missense_Mutation | G | A | p.A1401T |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 8394474 | 8394609 | 8394550 | 8394550 | Missense_Mutation | G | T | p.D1416Y |
| MEWO_SKIN | 8394474 | 8394609 | 8394601 | 8394601 | Missense_Mutation | G | A | p.D1433N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPRM |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRM |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRM |
Top |
RelatedDrugs for PTPRM |
| 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 |
Top |
RelatedDiseases for PTPRM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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