Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_346593 | 2 | 218668588:218669326:218672797:218672830:218673325:218673394 | 218672797:218672830 | ENSG00000079308.12 | ENST00000430930.1,ENST00000490566.1,ENST00000419504.1,ENST00000446688.1,ENST00000171887.4 |
exon_skip_346594 | 2 | 218673325:218673394:218674545:218674714:218674970:218675027 | 218674545:218674714 | ENSG00000079308.12 | ENST00000430930.1,ENST00000490566.1,ENST00000419504.1,ENST00000446688.1,ENST00000171887.4 |
exon_skip_346595 | 2 | 218677090:218677168:218677937:218678027:218678407:218678539 | 218677937:218678027 | ENSG00000079308.12 | ENST00000419504.1 |
exon_skip_346596 | 2 | 218677090:218677168:218677937:218678030:218678407:218678539 | 218677937:218678030 | ENSG00000079308.12 | ENST00000430930.1,ENST00000490566.1,ENST00000446688.1,ENST00000171887.4 |
exon_skip_346597 | 2 | 218686462:218686661:218694566:218694605:218695089:218695113 | 218694566:218694605 | ENSG00000079308.12 | ENST00000171887.4 |
exon_skip_346602 | 2 | 218686462:218686661:218695089:218695113:218696177:218696270 | 218695089:218695113 | ENSG00000079308.12 | ENST00000419504.1 |
exon_skip_346603 | 2 | 218686462:218686661:218696177:218696270:218699813:218699889 | 218696177:218696270 | ENSG00000079308.12 | ENST00000430930.1,ENST00000446688.1 |
exon_skip_346604 | 2 | 218694566:218694605:218695089:218695113:218696177:218696270 | 218695089:218695113 | ENSG00000079308.12 | ENST00000171887.4 |
exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENSG00000079308.12 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 |
exon_skip_346620 | 2 | 218713606:218713810:218745620:218745737:218747068:218747134 | 218745620:218745737 | ENSG00000079308.12 | ENST00000430930.1,ENST00000446903.1,ENST00000413554.1,ENST00000419504.1,ENST00000171887.4 |
exon_skip_346623 | 2 | 218713606:218713810:218745620:218747134:218749757:218749887 | 218745620:218747134 | ENSG00000079308.12 | ENST00000479185.1 |
exon_skip_346636 | 2 | 218747068:218747134:218749757:218749887:218750466:218750533 | 218749757:218749887 | ENSG00000079308.12 | ENST00000430930.1,ENST00000310858.6,ENST00000446903.1,ENST00000413554.1,ENST00000419504.1,ENST00000171887.4,ENST00000453356.1,ENST00000479185.1 |
exon_skip_346640 | 2 | 218757670:218757735:218758161:218758284:218759728:218759779 | 218758161:218758284 | ENSG00000079308.12 | ENST00000430930.1,ENST00000310858.6,ENST00000446903.1,ENST00000413554.1,ENST00000419504.1,ENST00000171887.4,ENST00000492338.2 |
exon_skip_346641 | 2 | 218762615:218762692:218765185:218765235:218766432:218766546 | 218765185:218765235 | ENSG00000079308.12 | ENST00000449814.1,ENST00000439083.1 |
exon_skip_346642 | 2 | 218762615:218762692:218765185:218765235:218771057:218771108 | 218765185:218765235 | ENSG00000079308.12 | ENST00000413280.1,ENST00000423413.1,ENST00000430930.1,ENST00000446903.1,ENST00000419504.1,ENST00000171887.4 |
exon_skip_346646 | 2 | 218765185:218765235:218766432:218766546:218771057:218771108 | 218766432:218766546 | ENSG00000079308.12 | ENST00000449814.1 |
exon_skip_346648 | 2 | 218771057:218771108:218771932:218771974:218784917:218784932 | 218771932:218771974 | ENSG00000079308.12 | ENST00000413280.1,ENST00000449814.1,ENST00000423413.1,ENST00000430930.1,ENST00000446903.1,ENST00000419504.1,ENST00000171887.4 |
exon_skip_346649 | 2 | 218771932:218771974:218784917:218784959:218808587:218808793 | 218784917:218784959 | ENSG00000079308.12 | ENST00000449814.1 |
exon_skip_346650 | 2 | 218771932:218771974:218784917:218784959:218843487:218843525 | 218784917:218784959 | ENSG00000079308.12 | ENST00000413280.1,ENST00000446903.1 |
exon_skip_346655 | 2 | 218784917:218784959:218843487:218843525:218855664:218855752 | 218843487:218843525 | ENSG00000079308.12 | ENST00000446903.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_346593 | 2 | 218668588:218669326:218672797:218672830:218673325:218673394 | 218672797:218672830 | ENSG00000079308.12 | ENST00000171887.4,ENST00000446688.1,ENST00000490566.1,ENST00000419504.1,ENST00000430930.1 |
exon_skip_346594 | 2 | 218673325:218673394:218674545:218674714:218674970:218675027 | 218674545:218674714 | ENSG00000079308.12 | ENST00000171887.4,ENST00000446688.1,ENST00000490566.1,ENST00000419504.1,ENST00000430930.1 |
exon_skip_346595 | 2 | 218677090:218677168:218677937:218678027:218678407:218678539 | 218677937:218678027 | ENSG00000079308.12 | ENST00000419504.1 |
exon_skip_346596 | 2 | 218677090:218677168:218677937:218678030:218678407:218678539 | 218677937:218678030 | ENSG00000079308.12 | ENST00000171887.4,ENST00000446688.1,ENST00000490566.1,ENST00000430930.1 |
exon_skip_346597 | 2 | 218686462:218686661:218694566:218694605:218695089:218695113 | 218694566:218694605 | ENSG00000079308.12 | ENST00000171887.4 |
exon_skip_346602 | 2 | 218686462:218686661:218695089:218695113:218696177:218696270 | 218695089:218695113 | ENSG00000079308.12 | ENST00000419504.1 |
exon_skip_346603 | 2 | 218686462:218686661:218696177:218696270:218699813:218699889 | 218696177:218696270 | ENSG00000079308.12 | ENST00000446688.1,ENST00000430930.1 |
exon_skip_346604 | 2 | 218694566:218694605:218695089:218695113:218696177:218696270 | 218695089:218695113 | ENSG00000079308.12 | ENST00000171887.4 |
exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1 |
exon_skip_346620 | 2 | 218713606:218713810:218745620:218745737:218747068:218747134 | 218745620:218745737 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1,ENST00000446903.1,ENST00000413554.1 |
exon_skip_346623 | 2 | 218713606:218713810:218745620:218747134:218749757:218749887 | 218745620:218747134 | ENSG00000079308.12 | ENST00000479185.1 |
exon_skip_346636 | 2 | 218747068:218747134:218749757:218749887:218750466:218750533 | 218749757:218749887 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1,ENST00000446903.1,ENST00000479185.1,ENST00000413554.1,ENST00000310858.6,ENST00000453356.1 |
exon_skip_346640 | 2 | 218757670:218757735:218758161:218758284:218759728:218759779 | 218758161:218758284 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1,ENST00000446903.1,ENST00000413554.1,ENST00000310858.6,ENST00000492338.2 |
exon_skip_346641 | 2 | 218762615:218762692:218765185:218765235:218766432:218766546 | 218765185:218765235 | ENSG00000079308.12 | ENST00000439083.1,ENST00000449814.1 |
exon_skip_346642 | 2 | 218762615:218762692:218765185:218765235:218771057:218771108 | 218765185:218765235 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1,ENST00000446903.1,ENST00000413280.1,ENST00000423413.1 |
exon_skip_346646 | 2 | 218765185:218765235:218766432:218766546:218771057:218771108 | 218766432:218766546 | ENSG00000079308.12 | ENST00000449814.1 |
exon_skip_346648 | 2 | 218771057:218771108:218771932:218771974:218784917:218784932 | 218771932:218771974 | ENSG00000079308.12 | ENST00000171887.4,ENST00000419504.1,ENST00000430930.1,ENST00000446903.1,ENST00000413280.1,ENST00000423413.1,ENST00000449814.1 |
exon_skip_346649 | 2 | 218771932:218771974:218784917:218784959:218808587:218808793 | 218784917:218784959 | ENSG00000079308.12 | ENST00000449814.1 |
exon_skip_346650 | 2 | 218771932:218771974:218784917:218784959:218843487:218843525 | 218784917:218784959 | ENSG00000079308.12 | ENST00000446903.1,ENST00000413280.1 |
exon_skip_346655 | 2 | 218784917:218784959:218843487:218843525:218855664:218855752 | 218843487:218843525 | ENSG00000079308.12 | ENST00000446903.1 |
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 |
Q9HBL0 | 73 | 114 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 73 | 114 | 4 | 176 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
Q9HBL0 | 312 | 351 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 312 | 351 | 338 | 338 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 352 | 385 | Alternative sequence | ID=VSP_056336;Note=In isoform 2. EVVGHTQGPLDGSLYAKVKKKDSLHGSTGAVNAT->DGNKQNTNSQSIGSISGGLEDQYTWPDTHWPSQS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 351 | 877 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 351 | 877 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 351 | 877 | 651 | 667 | Compositional bias | Note=Gln-rich |
Q9HBL0 | 351 | 877 | 364 | 364 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 366 | 366 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 378 | 378 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 379 | 379 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 433 | 433 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 621 | 621 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HBL0 | 351 | 877 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q9HBL0 | 351 | 877 | 764 | 764 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 769 | 769 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 794 | 794 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 860 | 860 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 466 | 466 | Natural variant | ID=VAR_047067;Note=R->C;Dbxref=dbSNP:rs3815849 |
Q9HBL0 | 351 | 877 | 528 | 528 | Natural variant | ID=VAR_047068;Note=T->I;Dbxref=dbSNP:rs3796033 |
Q9HBL0 | 1007 | 1020 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1007 | 1020 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 1516 | 1547 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1516 | 1547 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 1516 | 1547 | 1463 | 1572 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
Q9HBL0 | 1677 | 1687 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1677 | 1687 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
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 |
Q9HBL0 | 73 | 114 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 73 | 114 | 4 | 176 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
Q9HBL0 | 312 | 351 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 312 | 351 | 338 | 338 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 352 | 385 | Alternative sequence | ID=VSP_056336;Note=In isoform 2. EVVGHTQGPLDGSLYAKVKKKDSLHGSTGAVNAT->DGNKQNTNSQSIGSISGGLEDQYTWPDTHWPSQS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 351 | 877 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 351 | 877 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 351 | 877 | 651 | 667 | Compositional bias | Note=Gln-rich |
Q9HBL0 | 351 | 877 | 364 | 364 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 366 | 366 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 378 | 378 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 379 | 379 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 433 | 433 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 621 | 621 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HBL0 | 351 | 877 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
Q9HBL0 | 351 | 877 | 764 | 764 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 769 | 769 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 794 | 794 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 860 | 860 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q9HBL0 | 351 | 877 | 466 | 466 | Natural variant | ID=VAR_047067;Note=R->C;Dbxref=dbSNP:rs3815849 |
Q9HBL0 | 351 | 877 | 528 | 528 | Natural variant | ID=VAR_047068;Note=T->I;Dbxref=dbSNP:rs3796033 |
Q9HBL0 | 1007 | 1020 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1007 | 1020 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 1516 | 1547 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1516 | 1547 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Q9HBL0 | 1516 | 1547 | 1463 | 1572 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
Q9HBL0 | 1677 | 1687 | 386 | 1735 | Alternative sequence | ID=VSP_056337;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HBL0 | 1677 | 1687 | 1 | 1735 | Chain | ID=PRO_0000215900;Note=Tensin-1 |
Depth of coverage in three exons | Mutation description |
| Sample: TCGA-E9-A1RF-01 |
Cancer type: BRCA |
ESID: exon_skip_346623 |
Skipped exon start: 218745621 |
Skipped exon end: 218747134 |
Mutation start: 218745658 |
Mutation end: 218745658 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.R115* |
| Sample: TCGA-E9-A1RF-01 |
Cancer type: BRCA |
ESID: exon_skip_346620 |
Skipped exon start: 218745621 |
Skipped exon end: 218745737 |
Mutation start: 218745658 |
Mutation end: 218745658 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.R115* |
exon_skip_346623_BRCA_TCGA-E9-A1RF-01.png
|
exon_skip_356010_BRCA_TCGA-E9-A1RF-01.png
|
| Sample: TCGA-BR-6565-01 |
Cancer type: STAD |
ESID: exon_skip_346623 |
Skipped exon start: 218745621 |
Skipped exon end: 218747134 |
Mutation start: 218747129 |
Mutation end: 218747129 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.R293X |
| Sample: TCGA-BR-6565-01 |
Cancer type: STAD |
ESID: exon_skip_346623 |
Skipped exon start: 218745621 |
Skipped exon end: 218747134 |
Mutation start: 218747129 |
Mutation end: 218747129 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.R293* |
exon_skip_140664_STAD_TCGA-BR-6565-01.png
|
exon_skip_346623_STAD_TCGA-BR-6565-01.png
|
| Sample: TCGA-BC-A3KG-01 |
Cancer type: LIHC |
ESID: exon_skip_346623 |
Skipped exon start: 218745621 |
Skipped exon end: 218747134 |
Mutation start: 218747075 |
Mutation end: 218747075 |
Mutation type: Frame_Shift_Del |
Reference seq: T |
Mutation seq: - |
AAchange: p.I311fs |
exon_skip_107008_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_107009_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_107010_LIHC_TCGA-BC-A3KG-01.png
|
exon_skip_10760_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_11532_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_123519_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_17069_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_300924_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_346623_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_374970_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_387350_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_423555_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_441299_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_441300_LIHC_TCGA-BC-A3KG-01.png
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| Sample: TCGA-64-1680-01 |
Cancer type: LUAD |
ESID: exon_skip_346610 |
Skipped exon start: 218712233 |
Skipped exon end: 218713810 |
Mutation start: 218713071 |
Mutation end: 218713072 |
Mutation type: Frame_Shift_Ins |
Reference seq: - |
Mutation seq: G |
AAchange: p.R598fs |
exon_skip_346610_LUAD_TCGA-64-1680-01.png
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exon_skip_73998_LUAD_TCGA-64-1680-01.png
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Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
DU145_PROSTATE | 218696178 | 218696270 | 218696258 | 218696258 | Frame_Shift_Del | G | - | p.P973fs |
LIM1215_LARGE_INTESTINE | 218696178 | 218696270 | 218696258 | 218696258 | Frame_Shift_Del | G | - | p.P973fs |
SISO_CERVIX | 218712233 | 218713810 | 218713076 | 218713076 | Frame_Shift_Del | G | - | p.H597fs |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713076 | 218713076 | Frame_Shift_Del | G | - | p.H597fs |
SISO_CERVIX | 218712233 | 218713810 | 218713270 | 218713270 | Frame_Shift_Del | C | - | p.G532fs |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713270 | 218713270 | Frame_Shift_Del | C | - | p.G532fs |
SKOV3_OVARY | 218712233 | 218713810 | 218713456 | 218713456 | Frame_Shift_Del | C | - | p.G470fs |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218696178 | 218696270 | 218696257 | 218696258 | Frame_Shift_Ins | - | G | p.P973fs |
CW2_LARGE_INTESTINE | 218712233 | 218713810 | 218712954 | 218712955 | Frame_Shift_Ins | - | C | p.G637fs |
MKN7_STOMACH | 218674546 | 218674714 | 218674590 | 218674590 | Missense_Mutation | G | T | p.F1639L |
CORL32_LUNG | 218674546 | 218674714 | 218674693 | 218674693 | Missense_Mutation | T | C | p.N1605S |
NCIH2073_LUNG | 218696178 | 218696270 | 218696216 | 218696216 | Missense_Mutation | G | A | p.P987L |
NCIH2347_LUNG | 218696178 | 218696270 | 218696256 | 218696256 | Missense_Mutation | C | A | p.G974C |
OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218696178 | 218696270 | 218696264 | 218696264 | Missense_Mutation | G | C | p.S971C |
MM415_SKIN | 218712233 | 218713810 | 218712292 | 218712292 | Missense_Mutation | G | A | p.S858F |
SKOV3_OVARY | 218712233 | 218713810 | 218712338 | 218712338 | Missense_Mutation | T | C | p.T843A |
NCIH1770_LUNG | 218712233 | 218713810 | 218712377 | 218712377 | Missense_Mutation | G | A | p.P830S |
NCIH2106_LUNG | 218712233 | 218713810 | 218712377 | 218712377 | Missense_Mutation | G | A | p.P830S |
SW620_LARGE_INTESTINE | 218712233 | 218713810 | 218712407 | 218712407 | Missense_Mutation | G | A | p.P820S |
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218712436 | 218712436 | Missense_Mutation | T | C | p.H810R |
NCIH1573_LUNG | 218712233 | 218713810 | 218712500 | 218712500 | Missense_Mutation | G | A | p.P789S |
IPC298_SKIN | 218712233 | 218713810 | 218712503 | 218712503 | Missense_Mutation | G | A | p.P788S |
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218712524 | 218712524 | Missense_Mutation | G | A | p.R781W |
PK59_PANCREAS | 218712233 | 218713810 | 218712524 | 218712524 | Missense_Mutation | G | A | p.R781W |
NCIH1734_LUNG | 218712233 | 218713810 | 218712572 | 218712572 | Missense_Mutation | C | A | p.G765C |
IALM_LUNG | 218712233 | 218713810 | 218712586 | 218712586 | Missense_Mutation | G | A | p.T760I |
SNU719_STOMACH | 218712233 | 218713810 | 218712721 | 218712721 | Missense_Mutation | A | G | p.L715P |
NCIH650_LUNG | 218712233 | 218713810 | 218712742 | 218712742 | Missense_Mutation | G | C | p.S708C |
WM35_SKIN | 218712233 | 218713810 | 218712776 | 218712776 | Missense_Mutation | G | A | p.P697S |
IGROV1_OVARY | 218712233 | 218713810 | 218712802 | 218712802 | Missense_Mutation | G | T | p.T688N |
KYSE150_OESOPHAGUS | 218712233 | 218713810 | 218712815 | 218712815 | Missense_Mutation | G | A | p.P684S |
NCIH1436_LUNG | 218712233 | 218713810 | 218712848 | 218712848 | Missense_Mutation | C | G | p.E673Q |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218712946 | 218712946 | Missense_Mutation | C | T | p.R640Q |
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218712947 | 218712947 | Missense_Mutation | G | A | p.R640W |
M980513_SKIN | 218712233 | 218713810 | 218712959 | 218712959 | Missense_Mutation | C | T | p.G636R |
NCIH522_LUNG | 218712233 | 218713810 | 218713012 | 218713012 | Missense_Mutation | C | T | p.R618H |
KP3_PANCREAS | 218712233 | 218713810 | 218713022 | 218713022 | Missense_Mutation | C | T | p.G615S |
NCIH2291_LUNG | 218712233 | 218713810 | 218713031 | 218713031 | Missense_Mutation | C | T | p.D612N |
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713139 | 218713139 | Missense_Mutation | C | T | p.A576T |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713157 | 218713157 | Missense_Mutation | C | T | p.A570T |
MIAPACA2_PANCREAS | 218712233 | 218713810 | 218713237 | 218713237 | Missense_Mutation | C | A | p.G543V |
MZ7MEL_SKIN | 218712233 | 218713810 | 218713274 | 218713274 | Missense_Mutation | C | T | p.G531R |
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713277 | 218713277 | Missense_Mutation | C | T | p.E530K |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713378 | 218713378 | Missense_Mutation | C | T | p.R496Q |
SNU478_BILIARY_TRACT | 218712233 | 218713810 | 218713453 | 218713453 | Missense_Mutation | G | A | p.S471L |
KM12_LARGE_INTESTINE | 218712233 | 218713810 | 218713465 | 218713465 | Missense_Mutation | G | A | p.P467L |
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713530 | 218713530 | Missense_Mutation | A | T | p.S445R |
TE15_OESOPHAGUS | 218712233 | 218713810 | 218713532 | 218713532 | Missense_Mutation | T | G | p.S445R |
SNU81_LARGE_INTESTINE | 218712233 | 218713810 | 218713610 | 218713610 | Missense_Mutation | C | T | p.D419N |
KNS62_LUNG | 218712233 | 218713810 | 218713651 | 218713651 | Missense_Mutation | T | C | p.D405G |
HEC151_ENDOMETRIUM | 218712233 | 218713810 | 218713654 | 218713654 | Missense_Mutation | C | T | p.S404N |
SEKI_SKIN | 218712233 | 218713810 | 218713708 | 218713708 | Missense_Mutation | C | T | p.R386H |
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218745621 | 218747134 | 218745672 | 218745672 | Missense_Mutation | G | A | p.R335C |
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218745621 | 218745737 | 218745672 | 218745672 | Missense_Mutation | G | A | p.R335C |
KNS42_CENTRAL_NERVOUS_SYSTEM | 218745621 | 218747134 | 218745698 | 218745698 | Missense_Mutation | T | G | p.D326A |
KNS42_CENTRAL_NERVOUS_SYSTEM | 218745621 | 218745737 | 218745698 | 218745698 | Missense_Mutation | T | G | p.D326A |
SW579_THYROID | 218745621 | 218747134 | 218747086 | 218747086 | Missense_Mutation | C | T | p.G307E |
CGTHW1_THYROID | 218745621 | 218747134 | 218747086 | 218747086 | Missense_Mutation | C | T | p.G307E |
BICR18_UPPER_AERODIGESTIVE_TRACT | 218745621 | 218747134 | 218747118 | 218747118 | Missense_Mutation | C | G | p.E296D |
LS411N_LARGE_INTESTINE | 218749758 | 218749887 | 218749854 | 218749854 | Missense_Mutation | C | T | p.A259T |
SARC9371_BONE | 218758162 | 218758284 | 218758178 | 218758178 | Missense_Mutation | A | C | p.V109G |
JHUEM2_ENDOMETRIUM | 218677938 | 218678027 | 218677977 | 218677977 | Nonsense_Mutation | C | A | p.G1535* |
JHUEM2_ENDOMETRIUM | 218677938 | 218678030 | 218677977 | 218677977 | Nonsense_Mutation | C | A | p.G1535* |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 218712233 | 218713810 | 218713390 | 218713390 | Nonsense_Mutation | A | T | p.L492* |
ES2_OVARY | 218712233 | 218713810 | 218713453 | 218713453 | Nonsense_Mutation | G | T | p.S471* |
HCT15_LARGE_INTESTINE | 218758162 | 218758284 | 218758204 | 218758204 | Nonsense_Mutation | C | T | p.W100* |
MDST8_LARGE_INTESTINE | 218758162 | 218758284 | 218758205 | 218758205 | Nonsense_Mutation | C | T | p.W100* |
BICR18_UPPER_AERODIGESTIVE_TRACT | 218674546 | 218674714 | 218674713 | 218674713 | Splice_Site | G | A | p.A1598A |
BICR18_UPPER_AERODIGESTIVE_TRACT | 218696178 | 218696270 | 218696179 | 218696179 | Splice_Site | T | A | p.G999G |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1364641 | chr2:218712606 | G/A | 1.56e-05
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exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1364641 | chr2:218712606 | G/A | 1.57e-05
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exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1364642 | chr2:218712726 | A/G | 2.24e-05
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exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1364642 | chr2:218712726 | A/G | 2.26e-05
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exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1004814 | chr2:218712306 | C/T | 3.03e-05
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exon_skip_346610 | 2 | 218700737:218700934:218712232:218713810:218745620:218745737 | 218712232:218713810 | ENST00000430930.1,ENST00000419504.1,ENST00000171887.4 | BRCA | rs1004814 | chr2:218712306 | C/T | 3.05e-05
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