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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 ANK3 |
 Gene summary |
| Gene information | Gene symbol | ANK3 | Gene ID | 288 |
| Gene name | ankyrin 3 | |
| Synonyms | ANKYRIN-G|MRT37 | |
| Cytomap | 10q21.2 | |
| Type of gene | protein-coding | |
| Description | ankyrin-3ankyrin 3, node of Ranvier (ankyrin G) | |
| Modification date | 20180523 | |
| UniProtAcc | Q12955 | |
| Context | PubMed: ANK3 [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 |
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Exon skipping events across known transcript of Ensembl for ANK3 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 ANK3 |
| 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 ANK3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49492 | 10 | 61802439:61802517:61803831:61803891:61804022:61804106 | 61803831:61803891 | ENSG00000151150.16 | ENST00000480699.1 |
| exon_skip_49496 | 10 | 61802439:61802517:61813434:61813485:61815415:61815794 | 61813434:61813485 | ENSG00000151150.16 | ENST00000502769.1 |
| exon_skip_49501 | 10 | 61819149:61819188:61819455:61819764:61822868:61823012 | 61819455:61819764 | ENSG00000151150.16 | ENST00000355288.2,ENST00000503366.1,ENST00000373820.1,ENST00000373827.2 |
| exon_skip_49503 | 10 | 61819149:61819188:61819455:61819791:61822868:61823012 | 61819455:61819791 | ENSG00000151150.16 | ENST00000514197.1 |
| exon_skip_49505 | 10 | 61823914:61824046:61827692:61827767:61840294:61840376 | 61827692:61827767 | ENSG00000151150.16 | ENST00000355288.2,ENST00000511043.1,ENST00000503366.1,ENST00000373820.1,ENST00000373827.2 |
| exon_skip_49506 | 10 | 61827692:61827767:61828394:61836206:61840294:61840376 | 61828394:61836206 | ENSG00000151150.16 | ENST00000280772.2 |
| exon_skip_49511 | 10 | 61840330:61840376:61841907:61841934:61842372:61842444 | 61841907:61841934 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373820.1 |
| exon_skip_49512 | 10 | 61865779:61865817:61867945:61868044:61868587:61868812 | 61867945:61868044 | ENSG00000151150.16 | ENST00000467420.2 |
| exon_skip_49515 | 10 | 61898721:61898845:61905725:61905779:61926348:61926411 | 61905725:61905779 | ENSG00000151150.16 | ENST00000474360.1,ENST00000503366.1 |
| exon_skip_49516 | 10 | 61898721:61898845:61905725:61905779:61926581:61926633 | 61905725:61905779 | ENSG00000151150.16 | ENST00000460468.1 |
| exon_skip_49517 | 10 | 61898721:61898845:61926348:61926411:61926581:61926633 | 61926348:61926411 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373827.2 |
| exon_skip_49518 | 10 | 61905725:61905779:61926348:61926411:61926581:61926633 | 61926348:61926411 | ENSG00000151150.16 | ENST00000474360.1,ENST00000503366.1 |
| exon_skip_49519 | 10 | 61946472:61946670:61955902:61956001:61956284:61956383 | 61955902:61956001 | ENSG00000151150.16 | ENST00000280772.2,ENST00000503366.1,ENST00000373827.2 |
| exon_skip_49520 | 10 | 61958097:61958295:61959886:61959985:61962759:61962858 | 61959886:61959985 | ENSG00000151150.16 | ENST00000280772.2,ENST00000503366.1,ENST00000373827.2 |
| exon_skip_49521 | 10 | 61973169:61973268:61994445:61994544:62021616:62021715 | 61994445:61994544 | ENSG00000151150.16 | ENST00000280772.2,ENST00000503366.1,ENST00000373827.2 |
| exon_skip_49524 | 10 | 62039295:62039397:62374943:62374982:62493020:62493082 | 62374943:62374982 | ENSG00000151150.16 | ENST00000373827.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANK3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49492 | 10 | 61802439:61802517:61803831:61803891:61804022:61804106 | 61803831:61803891 | ENSG00000151150.16 | ENST00000480699.1 |
| exon_skip_49496 | 10 | 61802439:61802517:61813434:61813485:61815415:61815794 | 61813434:61813485 | ENSG00000151150.16 | ENST00000502769.1 |
| exon_skip_49501 | 10 | 61819149:61819188:61819455:61819764:61822868:61823012 | 61819455:61819764 | ENSG00000151150.16 | ENST00000373827.2,ENST00000373820.1,ENST00000355288.2,ENST00000503366.1 |
| exon_skip_49503 | 10 | 61819149:61819188:61819455:61819791:61822868:61823012 | 61819455:61819791 | ENSG00000151150.16 | ENST00000514197.1 |
| exon_skip_49505 | 10 | 61823914:61824046:61827692:61827767:61840294:61840376 | 61827692:61827767 | ENSG00000151150.16 | ENST00000373827.2,ENST00000373820.1,ENST00000355288.2,ENST00000503366.1,ENST00000511043.1 |
| exon_skip_49506 | 10 | 61827692:61827767:61828394:61836206:61840294:61840376 | 61828394:61836206 | ENSG00000151150.16 | ENST00000280772.2 |
| exon_skip_49511 | 10 | 61840330:61840376:61841907:61841934:61842372:61842444 | 61841907:61841934 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373820.1 |
| exon_skip_49512 | 10 | 61865779:61865817:61867945:61868044:61868587:61868812 | 61867945:61868044 | ENSG00000151150.16 | ENST00000467420.2 |
| exon_skip_49515 | 10 | 61898721:61898845:61905725:61905779:61926348:61926411 | 61905725:61905779 | ENSG00000151150.16 | ENST00000503366.1,ENST00000474360.1 |
| exon_skip_49516 | 10 | 61898721:61898845:61905725:61905779:61926581:61926633 | 61905725:61905779 | ENSG00000151150.16 | ENST00000460468.1 |
| exon_skip_49517 | 10 | 61898721:61898845:61926348:61926411:61926581:61926633 | 61926348:61926411 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373827.2 |
| exon_skip_49518 | 10 | 61905725:61905779:61926348:61926411:61926581:61926633 | 61926348:61926411 | ENSG00000151150.16 | ENST00000503366.1,ENST00000474360.1 |
| exon_skip_49519 | 10 | 61946472:61946670:61955902:61956001:61956284:61956383 | 61955902:61956001 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373827.2,ENST00000503366.1 |
| exon_skip_49520 | 10 | 61958097:61958295:61959886:61959985:61962759:61962858 | 61959886:61959985 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373827.2,ENST00000503366.1 |
| exon_skip_49521 | 10 | 61973169:61973268:61994445:61994544:62021616:62021715 | 61994445:61994544 | ENSG00000151150.16 | ENST00000280772.2,ENST00000373827.2,ENST00000503366.1 |
| exon_skip_49524 | 10 | 62039295:62039397:62374943:62374982:62493020:62493082 | 62374943:62374982 | ENSG00000151150.16 | ENST00000373827.2 |
| 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 ANK3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ANK3 |
| 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 |
| 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 |
| 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 ANK3 |
| - 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. |
ANK3_CESC_exon_skip_49506_psi_boxplot.png |
ANK3_COAD_exon_skip_49506_psi_boxplot.png |
ANK3_ESCA_exon_skip_49506_psi_boxplot.png |
ANK3_HNSC_exon_skip_49506_psi_boxplot.png |
ANK3_KIRC_exon_skip_49506_psi_boxplot.png |
ANK3_KIRP_exon_skip_49506_psi_boxplot.png |
ANK3_LIHC_exon_skip_49506_psi_boxplot.png |
ANK3_LUAD_exon_skip_49506_psi_boxplot.png |
ANK3_LUSC_exon_skip_49506_psi_boxplot.png |
ANK3_PRAD_exon_skip_49506_psi_boxplot.png |
ANK3_STAD_exon_skip_49506_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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49501 | 61819456 | 61819764 | 61819641 | 61819641 | Frame_Shift_Del | G | - | p.P1621fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49503 | 61819456 | 61819791 | 61819641 | 61819641 | Frame_Shift_Del | G | - | p.P1621fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49501 | 61819456 | 61819764 | 61819651 | 61819651 | Frame_Shift_Del | G | - | p.L1618fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49503 | 61819456 | 61819791 | 61819651 | 61819651 | Frame_Shift_Del | G | - | p.L1618fs |
| LIHC | TCGA-WQ-A9G7-01 | exon_skip_49506 | 61828395 | 61836206 | 61828444 | 61828444 | Frame_Shift_Del | T | - | p.S4066fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49506 | 61828395 | 61836206 | 61828508 | 61828508 | Frame_Shift_Del | C | - | p.G4045fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61828548 | 61828548 | Frame_Shift_Del | T | - | p.S4031fs |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| COAD | TCGA-AA-3713-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| COAD | TCGA-D5-6928-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61828580 | 61828580 | Frame_Shift_Del | T | - | p.K4020fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61829082 | 61829082 | Frame_Shift_Del | T | - | p.T3853fs |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_49506 | 61828395 | 61836206 | 61829142 | 61829143 | Frame_Shift_Del | CT | - | p.T3832fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61829147 | 61829147 | Frame_Shift_Del | T | - | p.K3831fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61829290 | 61829290 | Frame_Shift_Del | T | - | p.K3783fs |
| COAD | TCGA-CM-6171-01 | exon_skip_49506 | 61828395 | 61836206 | 61829305 | 61829305 | Frame_Shift_Del | T | - | p.H3779fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61829527 | 61829527 | Frame_Shift_Del | T | - | p.K3704fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61829691 | 61829691 | Frame_Shift_Del | C | - | p.D3650fs |
| COAD | TCGA-AA-3663-01 | exon_skip_49506 | 61828395 | 61836206 | 61829817 | 61829817 | Frame_Shift_Del | T | - | p.M3608fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61829988 | 61829988 | Frame_Shift_Del | C | - | p.D3552fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61830013 | 61830013 | Frame_Shift_Del | A | - | p.F3542fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61830581 | 61830581 | Frame_Shift_Del | T | - | p.K3353fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49506 | 61828395 | 61836206 | 61830591 | 61830591 | Frame_Shift_Del | A | - | p.S3350fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61830601 | 61830601 | Frame_Shift_Del | T | - | p.K3346fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61830646 | 61830646 | Frame_Shift_Del | T | - | p.K3331fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49506 | 61828395 | 61836206 | 61830822 | 61830822 | Frame_Shift_Del | A | - | p.Y3273fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61831204 | 61831204 | Frame_Shift_Del | T | - | p.Q3145fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61831206 | 61831206 | Frame_Shift_Del | G | - | p.Q3145fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61831249 | 61831249 | Frame_Shift_Del | C | - | p.G3130fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61831290 | 61831290 | Frame_Shift_Del | T | - | p.I3118fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_49506 | 61828395 | 61836206 | 61831290 | 61831290 | Frame_Shift_Del | T | - | p.I3117fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_49506 | 61828395 | 61836206 | 61831290 | 61831290 | Frame_Shift_Del | T | - | p.I3118fs |
| BLCA | TCGA-DK-A6B2-01 | exon_skip_49506 | 61828395 | 61836206 | 61831368 | 61831368 | Frame_Shift_Del | T | - | p.T3091fs |
| KIRC | TCGA-BP-4161-01 | exon_skip_49506 | 61828395 | 61836206 | 61831858 | 61831858 | Frame_Shift_Del | T | - | p.V2928fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61832038 | 61832038 | Frame_Shift_Del | T | - | p.K2867fs |
| KIRP | TCGA-A4-A4ZT-01 | exon_skip_49506 | 61828395 | 61836206 | 61832051 | 61832054 | Frame_Shift_Del | TTGT | - | p.2862_2863del |
| KIRP | TCGA-A4-A4ZT-01 | exon_skip_49506 | 61828395 | 61836206 | 61832051 | 61832054 | Frame_Shift_Del | TTGT | - | p.N2862fs |
| KIRP | TCGA-A4-A4ZT-01 | exon_skip_49506 | 61828395 | 61836206 | 61832052 | 61832061 | Frame_Shift_Del | TGTTAGTGGC | - | p.2860_2863del |
| KIRP | TCGA-A4-A4ZT-01 | exon_skip_49506 | 61828395 | 61836206 | 61832057 | 61832061 | Frame_Shift_Del | GTGGC | - | p.2860_2861del |
| KIRP | TCGA-A4-A4ZT-01 | exon_skip_49506 | 61828395 | 61836206 | 61832057 | 61832061 | Frame_Shift_Del | GTGGC | - | p.A2860fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61832105 | 61832105 | Frame_Shift_Del | C | - | p.G2845fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49506 | 61828395 | 61836206 | 61832206 | 61832206 | Frame_Shift_Del | T | - | p.K2811fs |
| ESCA | TCGA-Z6-A9VB-01 | exon_skip_49506 | 61828395 | 61836206 | 61832417 | 61832417 | Frame_Shift_Del | T | - | p.D2741fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61832451 | 61832451 | Frame_Shift_Del | T | - | p.S2730fs |
| COAD | TCGA-AD-6889-01 | exon_skip_49506 | 61828395 | 61836206 | 61832804 | 61832804 | Frame_Shift_Del | T | - | p.K2612fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61832854 | 61832854 | Frame_Shift_Del | A | - | p.F2595fs |
| PRAD | TCGA-YL-A8SO-01 | exon_skip_49506 | 61828395 | 61836206 | 61834099 | 61834099 | Frame_Shift_Del | A | - | p.A2180fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61834398 | 61834398 | Frame_Shift_Del | T | - | p.M2081fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49506 | 61828395 | 61836206 | 61834418 | 61834418 | Frame_Shift_Del | A | - | p.L2074fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49506 | 61828395 | 61836206 | 61834765 | 61834765 | Frame_Shift_Del | A | - | p.V1958fs |
| STAD | TCGA-CG-5726-01 | exon_skip_49506 | 61828395 | 61836206 | 61835708 | 61835708 | Frame_Shift_Del | G | - | p.P1644fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49506 | 61828395 | 61836206 | 61835789 | 61835789 | Frame_Shift_Del | T | - | p.N1617fs |
| STAD | TCGA-CG-5723-01 | exon_skip_49501 | 61819456 | 61819764 | 61819650 | 61819651 | Frame_Shift_Ins | - | G | p.L1625fs |
| STAD | TCGA-CG-5723-01 | exon_skip_49503 | 61819456 | 61819791 | 61819650 | 61819651 | Frame_Shift_Ins | - | G | p.L1625fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_49506 | 61828395 | 61836206 | 61828425 | 61828426 | Frame_Shift_Ins | - | G | p.A4071fs |
| STAD | TCGA-VQ-AA6K-01 | exon_skip_49506 | 61828395 | 61836206 | 61829081 | 61829082 | Frame_Shift_Ins | - | T | p.K3853fs |
| STAD | TCGA-VQ-AA6K-01 | exon_skip_49506 | 61828395 | 61836206 | 61829081 | 61829082 | Frame_Shift_Ins | - | T | p.T3853fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_49506 | 61828395 | 61836206 | 61829705 | 61829706 | Frame_Shift_Ins | - | C | p.P3645fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_49506 | 61828395 | 61836206 | 61829973 | 61829974 | Frame_Shift_Ins | - | A | p.LQ3555fs |
| SARC | TCGA-DX-AB2G-01 | exon_skip_49506 | 61828395 | 61836206 | 61831289 | 61831290 | Frame_Shift_Ins | - | T | p.H3117fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_49506 | 61828395 | 61836206 | 61831289 | 61831290 | Frame_Shift_Ins | - | T | p.I3117fs |
| COAD | TCGA-A6-5661-01 | exon_skip_49506 | 61828395 | 61836206 | 61832104 | 61832105 | Frame_Shift_Ins | - | C | p.G2845fs |
| PRAD | TCGA-EJ-5531-01 | exon_skip_49506 | 61828395 | 61836206 | 61832387 | 61832388 | Frame_Shift_Ins | - | T | p.I2751fs |
| PRAD | TCGA-EJ-5531-01 | exon_skip_49506 | 61828395 | 61836206 | 61832387 | 61832388 | Frame_Shift_Ins | - | T | p.T2751fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_49506 | 61828395 | 61836206 | 61833102 | 61833103 | Frame_Shift_Ins | - | T | p.N2513fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_49506 | 61828395 | 61836206 | 61834175 | 61834176 | Frame_Shift_Ins | - | C | p.E2155fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_49506 | 61828395 | 61836206 | 61834216 | 61834217 | Frame_Shift_Ins | - | G | p.P2141fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_49506 | 61828395 | 61836206 | 61834217 | 61834218 | Frame_Shift_Ins | - | G | p.P2141fs |
| READ | TCGA-F5-6814-01 | exon_skip_49501 | 61819456 | 61819764 | 61819660 | 61819660 | Nonsense_Mutation | C | A | p.E1622X |
| READ | TCGA-F5-6814-01 | exon_skip_49503 | 61819456 | 61819791 | 61819660 | 61819660 | Nonsense_Mutation | C | A | p.E1622X |
| UCEC | TCGA-AX-A060-01 | exon_skip_49506 | 61828395 | 61836206 | 61828830 | 61828830 | Nonsense_Mutation | G | A | p.Q3937* |
| ESCA | TCGA-2H-A9GR-01 | exon_skip_49506 | 61828395 | 61836206 | 61829130 | 61829130 | Nonsense_Mutation | C | A | p.G3837* |
| ESCA | TCGA-2H-A9GR-01 | exon_skip_49506 | 61828395 | 61836206 | 61829130 | 61829130 | Nonsense_Mutation | C | A | p.G3837X |
| LUAD | TCGA-55-8206-01 | exon_skip_49506 | 61828395 | 61836206 | 61829658 | 61829658 | Nonsense_Mutation | G | A | p.Q3661* |
| COAD | TCGA-AA-3516-01 | exon_skip_49506 | 61828395 | 61836206 | 61829973 | 61829974 | Nonsense_Mutation | - | A | p.D3556_S3557delinsX |
| LUSC | TCGA-22-4613-01 | exon_skip_49506 | 61828395 | 61836206 | 61830138 | 61830138 | Nonsense_Mutation | G | A | p.Q3501* |
| SKCM | TCGA-EE-A2A1-06 | exon_skip_49506 | 61828395 | 61836206 | 61830301 | 61830301 | Nonsense_Mutation | C | T | p.W3446* |
| SKCM | TCGA-FS-A4FC-06 | exon_skip_49506 | 61828395 | 61836206 | 61830301 | 61830301 | Nonsense_Mutation | C | T | p.W3446* |
| SKCM | TCGA-FS-A4FC-06 | exon_skip_49506 | 61828395 | 61836206 | 61830301 | 61830301 | Nonsense_Mutation | C | T | p.W3446X |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_49506 | 61828395 | 61836206 | 61830330 | 61830330 | Nonsense_Mutation | G | A | p.Q3437* |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_49506 | 61828395 | 61836206 | 61830330 | 61830330 | Nonsense_Mutation | G | A | p.Q3437X |
| SKCM | TCGA-FS-A4F2-06 | exon_skip_49506 | 61828395 | 61836206 | 61830330 | 61830330 | Nonsense_Mutation | G | A | p.Q3437* |
| SKCM | TCGA-YG-AA3N-01 | exon_skip_49506 | 61828395 | 61836206 | 61830330 | 61830330 | Nonsense_Mutation | G | A | p.Q3437* |
| KIRP | TCGA-HE-7130-01 | exon_skip_49506 | 61828395 | 61836206 | 61830689 | 61830689 | Nonsense_Mutation | G | C | p.S3317* |
| KIRP | TCGA-HE-7130-01 | exon_skip_49506 | 61828395 | 61836206 | 61830689 | 61830689 | Nonsense_Mutation | G | C | p.S3317X |
| UCEC | TCGA-FI-A2EX-01 | exon_skip_49506 | 61828395 | 61836206 | 61830839 | 61830839 | Nonsense_Mutation | G | C | p.S3267* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_49506 | 61828395 | 61836206 | 61831800 | 61831800 | Nonsense_Mutation | G | A | p.Q2947* |
| HNSC | TCGA-CV-6941-01 | exon_skip_49506 | 61828395 | 61836206 | 61832598 | 61832598 | Nonsense_Mutation | G | A | p.Q2681* |
| STAD | TCGA-R5-A7O7-01 | exon_skip_49506 | 61828395 | 61836206 | 61832826 | 61832826 | Nonsense_Mutation | C | A | p.E2605* |
| HNSC | TCGA-BA-A6DA-01 | exon_skip_49506 | 61828395 | 61836206 | 61832871 | 61832871 | Nonsense_Mutation | C | A | p.E2590* |
| SKCM | TCGA-D3-A8GK-06 | exon_skip_49506 | 61828395 | 61836206 | 61833305 | 61833305 | Nonsense_Mutation | G | T | p.S2445* |
| THYM | TCGA-5K-AAAP-01 | exon_skip_49506 | 61828395 | 61836206 | 61833456 | 61833456 | Nonsense_Mutation | C | A | p.E2395X |
| SKCM | TCGA-EE-A29D-06 | exon_skip_49506 | 61828395 | 61836206 | 61833981 | 61833981 | Nonsense_Mutation | G | A | p.Q2220* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_49506 | 61828395 | 61836206 | 61833981 | 61833981 | Nonsense_Mutation | G | A | p.Q2220X |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_49506 | 61828395 | 61836206 | 61835108 | 61835108 | Nonsense_Mutation | G | T | p.S1844* |
| UCEC | TCGA-AP-A0LN-01 | exon_skip_49506 | 61828395 | 61836206 | 61835222 | 61835222 | Nonsense_Mutation | G | T | p.S1806* |
| CESC | TCGA-C5-A1M7-01 | exon_skip_49506 | 61828395 | 61836206 | 61835654 | 61835654 | Nonsense_Mutation | G | C | p.S1662* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_49506 | 61828395 | 61836206 | 61835772 | 61835772 | Nonsense_Mutation | G | A | p.R1623* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_49506 | 61828395 | 61836206 | 61835772 | 61835772 | Nonsense_Mutation | G | A | p.R1623X |
| LUAD | TCGA-86-8673-01 | exon_skip_49506 | 61828395 | 61836206 | 61836183 | 61836183 | Nonsense_Mutation | T | A | p.R1486* |
| SARC | TCGA-DX-AB2E-01 | exon_skip_49519 | 61955903 | 61956001 | 61955932 | 61955932 | Nonsense_Mutation | G | A | p.Q620* |
| SKCM | TCGA-EE-A29N-06 | exon_skip_49519 | 61955903 | 61956001 | 61955959 | 61955959 | Nonsense_Mutation | G | A | p.Q611* |
| COAD | TCGA-CA-6717-01 | exon_skip_49521 | 61994446 | 61994544 | 61994475 | 61994475 | Nonsense_Mutation | G | A | p.R290X |
| STAD | TCGA-CG-4442-01 | exon_skip_49505 | 61827693 | 61827767 | 61827769 | 61827769 | Splice_Site | T | C | p.G4082_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-C5-A1M7-01 |
| Cancer type: CESC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61835654 | |
| Mutation end: 61835654 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S1662* | |
exon_skip_49506_CESC_TCGA-C5-A1M7-01.png | |
 | Sample: TCGA-AA-3516-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829973 | |
| Mutation end: 61829974 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.D3556_S3557delinsX | |
exon_skip_49506_COAD_TCGA-AA-3516-01.png | |
 | Sample: TCGA-2H-A9GR-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829130 | |
| Mutation end: 61829130 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G3837X | |
| Sample: TCGA-2H-A9GR-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829130 | |
| Mutation end: 61829130 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G3837* | |
exon_skip_49506_ESCA_TCGA-2H-A9GR-01.png | |
 | Sample: TCGA-CV-6941-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832598 | |
| Mutation end: 61832598 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q2681* | |
exon_skip_49506_HNSC_TCGA-CV-6941-01.png | |
 | Sample: TCGA-HE-7130-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61830689 | |
| Mutation end: 61830689 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S3317X | |
| Sample: TCGA-HE-7130-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61830689 | |
| Mutation end: 61830689 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S3317* | |
exon_skip_22733_KIRP_TCGA-HE-7130-01.png | |
exon_skip_49506_KIRP_TCGA-HE-7130-01.png | |
exon_skip_509871_KIRP_TCGA-HE-7130-01.png | |
 | Sample: TCGA-55-8206-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829658 | |
| Mutation end: 61829658 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q3661* | |
exon_skip_49506_LUAD_TCGA-55-8206-01.png | |
 | Sample: TCGA-86-8673-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61836183 | |
| Mutation end: 61836183 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: p.R1486* | |
exon_skip_49506_LUAD_TCGA-86-8673-01.png | |
 | Sample: TCGA-22-4613-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61830138 | |
| Mutation end: 61830138 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q3501* | |
exon_skip_49506_LUSC_TCGA-22-4613-01.png | |
exon_skip_497929_LUSC_TCGA-22-4613-01.png | |
 | Sample: TCGA-EE-A2A1-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61830301 | |
| Mutation end: 61830301 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W3446* | |
exon_skip_138676_SKCM_TCGA-EE-A2A1-06.png | |
exon_skip_445458_SKCM_TCGA-EE-A2A1-06.png | |
exon_skip_49506_SKCM_TCGA-EE-A2A1-06.png | |
 | Sample: TCGA-AP-A0LN-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61835222 | |
| Mutation end: 61835222 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.S1806* | |
exon_skip_475355_UCEC_TCGA-AP-A0LN-01.png | |
exon_skip_49506_UCEC_TCGA-AP-A0LN-01.png | |
 | Sample: TCGA-FI-A2EX-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61830839 | |
| Mutation end: 61830839 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S3267* | |
exon_skip_49506_UCEC_TCGA-FI-A2EX-01.png | |
 | Sample: TCGA-AX-A060-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61828830 | |
| Mutation end: 61828830 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q3937* | |
exon_skip_19372_UCEC_TCGA-AX-A060-01.png | |
exon_skip_377023_UCEC_TCGA-AX-A060-01.png | |
exon_skip_49506_UCEC_TCGA-AX-A060-01.png | |
exon_skip_497703_UCEC_TCGA-AX-A060-01.png | |
exon_skip_516945_UCEC_TCGA-AX-A060-01.png | |
 | Sample: TCGA-A5-A0GP-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61835108 | |
| Mutation end: 61835108 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.S1844* | |
exon_skip_49506_UCEC_TCGA-A5-A0GP-01.png | |
 | Sample: TCGA-AA-3713-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61828580 | |
| Mutation end: 61828580 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.K4020fs | |
exon_skip_133096_COAD_TCGA-AA-3713-01.png | |
exon_skip_26067_COAD_TCGA-AA-3713-01.png | |
exon_skip_37475_COAD_TCGA-AA-3713-01.png | |
exon_skip_450406_COAD_TCGA-AA-3713-01.png | |
exon_skip_461886_COAD_TCGA-AA-3713-01.png | |
exon_skip_468121_COAD_TCGA-AA-3713-01.png | |
exon_skip_489166_COAD_TCGA-AA-3713-01.png | |
exon_skip_49506_COAD_TCGA-AA-3713-01.png | |
exon_skip_51251_COAD_TCGA-AA-3713-01.png | |
exon_skip_517478_COAD_TCGA-AA-3713-01.png | |
exon_skip_62245_COAD_TCGA-AA-3713-01.png | |
exon_skip_73552_COAD_TCGA-AA-3713-01.png | |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61828580 | |
| Mutation end: 61828580 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.K4020fs | |
exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135112_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135114_COAD_TCGA-AZ-6598-01.png | |
exon_skip_139080_COAD_TCGA-AZ-6598-01.png | |
exon_skip_142268_COAD_TCGA-AZ-6598-01.png | |
exon_skip_149455_COAD_TCGA-AZ-6598-01.png | |
exon_skip_300996_COAD_TCGA-AZ-6598-01.png | |
exon_skip_303809_COAD_TCGA-AZ-6598-01.png | |
exon_skip_357723_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384067_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384069_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384070_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434039_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434040_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
exon_skip_49506_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
exon_skip_84515_COAD_TCGA-AZ-6598-01.png | |
 | Sample: TCGA-D5-6928-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61828580 | |
| Mutation end: 61828580 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.K4020fs | |
exon_skip_303809_COAD_TCGA-D5-6928-01.png | |
exon_skip_345643_COAD_TCGA-D5-6928-01.png | |
exon_skip_376457_COAD_TCGA-D5-6928-01.png | |
exon_skip_458514_COAD_TCGA-D5-6928-01.png | |
exon_skip_49506_COAD_TCGA-D5-6928-01.png | |
exon_skip_55351_COAD_TCGA-D5-6928-01.png | |
exon_skip_99321_COAD_TCGA-D5-6928-01.png | |
 | Sample: TCGA-CM-6171-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829305 | |
| Mutation end: 61829305 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.H3779fs | |
exon_skip_104657_COAD_TCGA-CM-6171-01.png | |
exon_skip_154501_COAD_TCGA-CM-6171-01.png | |
exon_skip_154511_COAD_TCGA-CM-6171-01.png | |
exon_skip_154521_COAD_TCGA-CM-6171-01.png | |
exon_skip_1757_COAD_TCGA-CM-6171-01.png | |
exon_skip_306804_COAD_TCGA-CM-6171-01.png | |
exon_skip_316878_COAD_TCGA-CM-6171-01.png | |
exon_skip_316879_COAD_TCGA-CM-6171-01.png | |
exon_skip_366970_COAD_TCGA-CM-6171-01.png | |
exon_skip_366972_COAD_TCGA-CM-6171-01.png | |
exon_skip_454979_COAD_TCGA-CM-6171-01.png | |
exon_skip_49506_COAD_TCGA-CM-6171-01.png | |
exon_skip_98040_COAD_TCGA-CM-6171-01.png | |
 | Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829817 | |
| Mutation end: 61829817 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.M3608fs | |
exon_skip_18752_COAD_TCGA-AA-3663-01.png | |
exon_skip_339350_COAD_TCGA-AA-3663-01.png | |
exon_skip_339352_COAD_TCGA-AA-3663-01.png | |
exon_skip_37074_COAD_TCGA-AA-3663-01.png | |
exon_skip_379370_COAD_TCGA-AA-3663-01.png | |
exon_skip_384539_COAD_TCGA-AA-3663-01.png | |
exon_skip_384545_COAD_TCGA-AA-3663-01.png | |
exon_skip_449340_COAD_TCGA-AA-3663-01.png | |
exon_skip_49506_COAD_TCGA-AA-3663-01.png | |
exon_skip_499778_COAD_TCGA-AA-3663-01.png | |
exon_skip_84515_COAD_TCGA-AA-3663-01.png | |
 | Sample: TCGA-AD-6889-01 |
| Cancer type: COAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832804 | |
| Mutation end: 61832804 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.K2612fs | |
exon_skip_139071_COAD_TCGA-AD-6889-01.png | |
exon_skip_303809_COAD_TCGA-AD-6889-01.png | |
exon_skip_308972_COAD_TCGA-AD-6889-01.png | |
exon_skip_38931_COAD_TCGA-AD-6889-01.png | |
exon_skip_425491_COAD_TCGA-AD-6889-01.png | |
exon_skip_425492_COAD_TCGA-AD-6889-01.png | |
exon_skip_49506_COAD_TCGA-AD-6889-01.png | |
 | Sample: TCGA-Z6-A9VB-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832417 | |
| Mutation end: 61832417 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D2741fs | |
exon_skip_344506_ESCA_TCGA-Z6-A9VB-01.png | |
exon_skip_344507_ESCA_TCGA-Z6-A9VB-01.png | |
exon_skip_49506_ESCA_TCGA-Z6-A9VB-01.png | |
 | Sample: TCGA-BP-4161-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61831858 | |
| Mutation end: 61831858 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.V2928fs | |
exon_skip_49506_KIRC_TCGA-BP-4161-01.png | |
 | Sample: TCGA-A4-A4ZT-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832057 | |
| Mutation end: 61832061 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GTGGC | |
| Mutation seq: - | |
| AAchange: p.2860_2861del | |
| Sample: TCGA-A4-A4ZT-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832051 | |
| Mutation end: 61832054 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TTGT | |
| Mutation seq: - | |
| AAchange: p.2862_2863del | |
| Sample: TCGA-A4-A4ZT-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832052 | |
| Mutation end: 61832061 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TGTTAGTGGC | |
| Mutation seq: - | |
| AAchange: p.2860_2863del | |
| Sample: TCGA-A4-A4ZT-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832051 | |
| Mutation end: 61832054 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TTGT | |
| Mutation seq: - | |
| AAchange: p.N2862fs | |
| Sample: TCGA-A4-A4ZT-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832057 | |
| Mutation end: 61832061 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GTGGC | |
| Mutation seq: - | |
| AAchange: p.A2860fs | |
exon_skip_49506_KIRP_TCGA-A4-A4ZT-01.png | |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829705 | |
| Mutation end: 61829706 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P3645fs | |
| Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829973 | |
| Mutation end: 61829974 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.LQ3555fs | |
| Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61833102 | |
| Mutation end: 61833103 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.N2513fs | |
exon_skip_114200_LIHC_TCGA-BC-A112-01.png | |
exon_skip_131894_LIHC_TCGA-BC-A112-01.png | |
exon_skip_135820_LIHC_TCGA-BC-A112-01.png | |
exon_skip_138911_LIHC_TCGA-BC-A112-01.png | |
exon_skip_141587_LIHC_TCGA-BC-A112-01.png | |
exon_skip_142606_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146695_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146697_LIHC_TCGA-BC-A112-01.png | |
exon_skip_152962_LIHC_TCGA-BC-A112-01.png | |
exon_skip_155765_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1757_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1879_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1881_LIHC_TCGA-BC-A112-01.png | |
exon_skip_266_LIHC_TCGA-BC-A112-01.png | |
exon_skip_284527_LIHC_TCGA-BC-A112-01.png | |
exon_skip_286998_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293546_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293549_LIHC_TCGA-BC-A112-01.png | |
exon_skip_306900_LIHC_TCGA-BC-A112-01.png | |
exon_skip_311841_LIHC_TCGA-BC-A112-01.png | |
exon_skip_325884_LIHC_TCGA-BC-A112-01.png | |
exon_skip_326432_LIHC_TCGA-BC-A112-01.png | |
exon_skip_32825_LIHC_TCGA-BC-A112-01.png | |
exon_skip_331787_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337208_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337747_LIHC_TCGA-BC-A112-01.png | |
exon_skip_339045_LIHC_TCGA-BC-A112-01.png | |
exon_skip_344031_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35548_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35556_LIHC_TCGA-BC-A112-01.png | |
exon_skip_359720_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37056_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37483_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37491_LIHC_TCGA-BC-A112-01.png | |
exon_skip_375724_LIHC_TCGA-BC-A112-01.png | |
exon_skip_378789_LIHC_TCGA-BC-A112-01.png | |
exon_skip_386291_LIHC_TCGA-BC-A112-01.png | |
exon_skip_41850_LIHC_TCGA-BC-A112-01.png | |
exon_skip_435931_LIHC_TCGA-BC-A112-01.png | |
exon_skip_436296_LIHC_TCGA-BC-A112-01.png | |
exon_skip_438393_LIHC_TCGA-BC-A112-01.png | |
exon_skip_443977_LIHC_TCGA-BC-A112-01.png | |
exon_skip_444190_LIHC_TCGA-BC-A112-01.png | |
exon_skip_44538_LIHC_TCGA-BC-A112-01.png | |
exon_skip_449944_LIHC_TCGA-BC-A112-01.png | |
exon_skip_458520_LIHC_TCGA-BC-A112-01.png | |
exon_skip_460075_LIHC_TCGA-BC-A112-01.png | |
exon_skip_472635_LIHC_TCGA-BC-A112-01.png | |
exon_skip_489149_LIHC_TCGA-BC-A112-01.png | |
exon_skip_492152_LIHC_TCGA-BC-A112-01.png | |
exon_skip_49506_LIHC_TCGA-BC-A112-01.png | |
exon_skip_5044_LIHC_TCGA-BC-A112-01.png | |
exon_skip_512559_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514460_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514990_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55171_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55175_LIHC_TCGA-BC-A112-01.png | |
exon_skip_56847_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57586_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57892_LIHC_TCGA-BC-A112-01.png | |
exon_skip_58035_LIHC_TCGA-BC-A112-01.png | |
exon_skip_6399_LIHC_TCGA-BC-A112-01.png | |
exon_skip_77132_LIHC_TCGA-BC-A112-01.png | |
 | Sample: TCGA-YL-A8SO-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61834099 | |
| Mutation end: 61834099 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.A2180fs | |
exon_skip_49506_PRAD_TCGA-YL-A8SO-01.png | |
 | Sample: TCGA-EJ-5531-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832387 | |
| Mutation end: 61832388 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T2751fs | |
| Sample: TCGA-EJ-5531-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61832387 | |
| Mutation end: 61832388 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.I2751fs | |
exon_skip_49506_PRAD_TCGA-EJ-5531-01.png | |
 | Sample: TCGA-VQ-AA6K-01 |
| Cancer type: STAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829081 | |
| Mutation end: 61829082 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T3853fs | |
| Sample: TCGA-VQ-AA6K-01 |
| Cancer type: STAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61829081 | |
| Mutation end: 61829082 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.K3853fs | |
exon_skip_49506_STAD_TCGA-VQ-AA6K-01.png | |
 | Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61834216 | |
| Mutation end: 61834217 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.P2141fs | |
| Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61834217 | |
| Mutation end: 61834218 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.P2141fs | |
exon_skip_115627_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_285856_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_328529_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374468_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374469_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_45545_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_49506_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_507604_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_513485_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_92194_STAD_TCGA-HU-A4G8-01.png | |
 | Sample: TCGA-CG-5726-01 |
| Cancer type: STAD | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61835708 | |
| Mutation end: 61835708 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P1644fs | |
exon_skip_111498_STAD_TCGA-CG-5726-01.png | |
exon_skip_1165_STAD_TCGA-CG-5726-01.png | |
exon_skip_132841_STAD_TCGA-CG-5726-01.png | |
exon_skip_32368_STAD_TCGA-CG-5726-01.png | |
exon_skip_32369_STAD_TCGA-CG-5726-01.png | |
exon_skip_330351_STAD_TCGA-CG-5726-01.png | |
exon_skip_368289_STAD_TCGA-CG-5726-01.png | |
exon_skip_439047_STAD_TCGA-CG-5726-01.png | |
exon_skip_439048_STAD_TCGA-CG-5726-01.png | |
exon_skip_440332_STAD_TCGA-CG-5726-01.png | |
exon_skip_444132_STAD_TCGA-CG-5726-01.png | |
exon_skip_462138_STAD_TCGA-CG-5726-01.png | |
exon_skip_462144_STAD_TCGA-CG-5726-01.png | |
exon_skip_464954_STAD_TCGA-CG-5726-01.png | |
exon_skip_49506_STAD_TCGA-CG-5726-01.png | |
exon_skip_70838_STAD_TCGA-CG-5726-01.png | |
exon_skip_924_STAD_TCGA-CG-5726-01.png | |
exon_skip_94969_STAD_TCGA-CG-5726-01.png | |
 | Sample: TCGA-A5-A0GA-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61831289 | |
| Mutation end: 61831290 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.I3117fs | |
exon_skip_120818_UCEC_TCGA-A5-A0GA-01.png | |
exon_skip_49506_UCEC_TCGA-A5-A0GA-01.png | |
 | Sample: TCGA-AP-A0LH-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61828425 | |
| Mutation end: 61828426 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.A4071fs | |
| Sample: TCGA-AP-A0LH-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_49506 | |
| Skipped exon start: 61828395 | |
| Skipped exon end: 61836206 | |
| Mutation start: 61834175 | |
| Mutation end: 61834176 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.E2155fs | |
exon_skip_304690_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_304691_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_453156_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_49506_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_92984_UCEC_TCGA-AP-A0LH-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 |
| CL34_LARGE_INTESTINE | 61828395 | 61836206 | 61828889 | 61828889 | Frame_Shift_Del | T | - | p.N3917fs |
| SW756_CERVIX | 61828395 | 61836206 | 61829095 | 61829104 | Frame_Shift_Del | TCCAAGAACT | - | p.KVLG3845fs |
| CW2_LARGE_INTESTINE | 61828395 | 61836206 | 61829988 | 61829988 | Frame_Shift_Del | C | - | p.D3552fs |
| HEC151_ENDOMETRIUM | 61828395 | 61836206 | 61830646 | 61830646 | Frame_Shift_Del | T | - | p.K3331fs |
| HEC59_ENDOMETRIUM | 61828395 | 61836206 | 61830646 | 61830646 | Frame_Shift_Del | T | - | p.K3331fs |
| SNUC5_LARGE_INTESTINE | 61828395 | 61836206 | 61830646 | 61830646 | Frame_Shift_Del | T | - | p.K3331fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61831249 | 61831249 | Frame_Shift_Del | C | - | p.G3130fs |
| SKMEL24_SKIN | 61828395 | 61836206 | 61831567 | 61831568 | Frame_Shift_Del | TT | - | p.K3024fs |
| SNU520_STOMACH | 61828395 | 61836206 | 61831591 | 61831591 | Frame_Shift_Del | T | - | p.K3016fs |
| MRKNU1_BREAST | 61828395 | 61836206 | 61832053 | 61832056 | Frame_Shift_Del | GTTA | - | p.TN2861fs |
| AN3CA_ENDOMETRIUM | 61828395 | 61836206 | 61832388 | 61832388 | Frame_Shift_Del | T | - | p.I2751fs |
| SNUC5_LARGE_INTESTINE | 61828395 | 61836206 | 61832388 | 61832388 | Frame_Shift_Del | T | - | p.I2751fs |
| HCC95_LUNG | 61828395 | 61836206 | 61832870 | 61832873 | Frame_Shift_Del | TCAG | - | p.TE2589fs |
| SKMEL2_SKIN | 61828395 | 61836206 | 61834593 | 61834594 | Frame_Shift_Del | CT | - | p.RV2015fs |
| SW1710_URINARY_TRACT | 61828395 | 61836206 | 61835451 | 61835451 | Frame_Shift_Del | T | - | p.T1730fs |
| RERFGC1B_STOMACH | 61828395 | 61836206 | 61829081 | 61829082 | Frame_Shift_Ins | - | T | p.T3853fs |
| EN_ENDOMETRIUM | 61828395 | 61836206 | 61833239 | 61833240 | Frame_Shift_Ins | - | T | p.M2467fs |
| NCIH524_LUNG | 61828395 | 61836206 | 61835405 | 61835406 | Frame_Shift_Ins | - | T | p.I1745fs |
| MRKNU1_BREAST | 61828395 | 61836206 | 61835583 | 61835585 | In_Frame_Del | CTG | - | p.A1685del |
| SKMEL5_SKIN | 61827693 | 61827767 | 61827734 | 61827734 | Missense_Mutation | C | T | p.R4093K |
| MIAPACA2_PANCREAS | 61828395 | 61836206 | 61828400 | 61828400 | Missense_Mutation | C | A | p.R4080M |
| MDAMB330_BREAST | 61828395 | 61836206 | 61828438 | 61828438 | Missense_Mutation | C | G | p.K4067N |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61828461 | 61828461 | Missense_Mutation | C | T | p.E4060K |
| HEC265_ENDOMETRIUM | 61828395 | 61836206 | 61828467 | 61828467 | Missense_Mutation | T | C | p.K4058E |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61828481 | 61828481 | Missense_Mutation | G | A | p.S4053F |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61828487 | 61828487 | Missense_Mutation | G | A | p.T4051M |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61828514 | 61828514 | Missense_Mutation | G | A | p.S4042F |
| HCT15_LARGE_INTESTINE | 61828395 | 61836206 | 61828674 | 61828674 | Missense_Mutation | G | A | p.L3989F |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61828716 | 61828716 | Missense_Mutation | T | C | p.T3975A |
| MDAPCA2B_PROSTATE | 61828395 | 61836206 | 61828953 | 61828953 | Missense_Mutation | C | T | p.E3896K |
| JEG3_PLACENTA | 61828395 | 61836206 | 61828993 | 61828994 | Missense_Mutation | TG | AT | p.S3882Y |
| HEC59_ENDOMETRIUM | 61828395 | 61836206 | 61828994 | 61828994 | Missense_Mutation | G | A | p.S3882L |
| T3M10_LUNG | 61828395 | 61836206 | 61828994 | 61828994 | Missense_Mutation | G | A | p.S3882L |
| JHOS3_OVARY | 61828395 | 61836206 | 61828998 | 61828998 | Missense_Mutation | T | C | p.M3881V |
| ES2_OVARY | 61828395 | 61836206 | 61829006 | 61829006 | Missense_Mutation | G | A | p.P3878L |
| MFE319_ENDOMETRIUM | 61828395 | 61836206 | 61829224 | 61829224 | Missense_Mutation | A | T | p.N3805K |
| EW1_BONE | 61828395 | 61836206 | 61829304 | 61829304 | Missense_Mutation | G | A | p.H3779Y |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61829384 | 61829384 | Missense_Mutation | C | T | p.C3752Y |
| JHH1_LIVER | 61828395 | 61836206 | 61829404 | 61829404 | Missense_Mutation | T | C | p.I3745M |
| LOXIMVI_SKIN | 61828395 | 61836206 | 61829433 | 61829433 | Missense_Mutation | C | T | p.E3736K |
| MDST8_LARGE_INTESTINE | 61828395 | 61836206 | 61829433 | 61829433 | Missense_Mutation | C | T | p.E3736K |
| MDAMB175VII_BREAST | 61828395 | 61836206 | 61829547 | 61829547 | Missense_Mutation | T | C | p.S3698G |
| RKO_LARGE_INTESTINE | 61828395 | 61836206 | 61829604 | 61829604 | Missense_Mutation | T | C | p.T3679A |
| SARC9371_BONE | 61828395 | 61836206 | 61829607 | 61829607 | Missense_Mutation | G | A | p.P3678S |
| HEC265_ENDOMETRIUM | 61828395 | 61836206 | 61829684 | 61829684 | Missense_Mutation | C | T | p.S3652N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61829705 | 61829705 | Missense_Mutation | T | G | p.D3645A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 61828395 | 61836206 | 61829724 | 61829724 | Missense_Mutation | A | G | p.S3639P |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61829724 | 61829724 | Missense_Mutation | A | G | p.S3639P |
| LNCAPCLONEFGC_PROSTATE | 61828395 | 61836206 | 61829744 | 61829744 | Missense_Mutation | A | G | p.F3632S |
| NCIH810_LUNG | 61828395 | 61836206 | 61829790 | 61829790 | Missense_Mutation | T | C | p.I3617V |
| IGR1_SKIN | 61828395 | 61836206 | 61829889 | 61829889 | Missense_Mutation | G | A | p.P3584S |
| PANC1005_PANCREAS | 61828395 | 61836206 | 61829891 | 61829891 | Missense_Mutation | G | A | p.T3583M |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61829918 | 61829918 | Missense_Mutation | C | T | p.R3574H |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61829993 | 61829993 | Missense_Mutation | C | T | p.R3549Q |
| HUO9_BONE | 61828395 | 61836206 | 61830024 | 61830024 | Missense_Mutation | C | A | p.G3539C |
| WM35_SKIN | 61828395 | 61836206 | 61830093 | 61830093 | Missense_Mutation | G | A | p.P3516S |
| CAKI2_KIDNEY | 61828395 | 61836206 | 61830176 | 61830176 | Missense_Mutation | T | C | p.E3488G |
| SW1710_URINARY_TRACT | 61828395 | 61836206 | 61830177 | 61830177 | Missense_Mutation | C | G | p.E3488Q |
| SW48_LARGE_INTESTINE | 61828395 | 61836206 | 61830261 | 61830261 | Missense_Mutation | T | C | p.S3460G |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61830270 | 61830270 | Missense_Mutation | G | A | p.R3457C |
| SNU1_STOMACH | 61828395 | 61836206 | 61830392 | 61830392 | Missense_Mutation | T | C | p.D3416G |
| WM1799_SKIN | 61828395 | 61836206 | 61830412 | 61830413 | Missense_Mutation | GG | AA | p.A3409V |
| HCT15_LARGE_INTESTINE | 61828395 | 61836206 | 61830425 | 61830425 | Missense_Mutation | T | C | p.H3405R |
| SW1271_LUNG | 61828395 | 61836206 | 61830455 | 61830455 | Missense_Mutation | C | A | p.C3395F |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61830467 | 61830467 | Missense_Mutation | G | A | p.S3391F |
| HKA1_SKIN | 61828395 | 61836206 | 61830490 | 61830492 | Missense_Mutation | GGC | AAA | p.A3383F |
| SARC9371_BONE | 61828395 | 61836206 | 61830498 | 61830498 | Missense_Mutation | C | T | p.E3381K |
| HEC251_ENDOMETRIUM | 61828395 | 61836206 | 61830826 | 61830826 | Missense_Mutation | A | C | p.H3271Q |
| DU145_PROSTATE | 61828395 | 61836206 | 61830929 | 61830929 | Missense_Mutation | C | T | p.S3237N |
| PACADD137_PANCREAS | 61828395 | 61836206 | 61830933 | 61830933 | Missense_Mutation | C | T | p.V3236M |
| MDST8_LARGE_INTESTINE | 61828395 | 61836206 | 61830987 | 61830987 | Missense_Mutation | G | A | p.L3218F |
| LCLC103H_LUNG | 61828395 | 61836206 | 61831003 | 61831003 | Missense_Mutation | C | A | p.Q3212H |
| OC316_OVARY | 61828395 | 61836206 | 61831037 | 61831037 | Missense_Mutation | G | A | p.P3201L |
| OC314_OVARY | 61828395 | 61836206 | 61831037 | 61831037 | Missense_Mutation | G | A | p.P3201L |
| LU139_LUNG | 61828395 | 61836206 | 61831043 | 61831043 | Missense_Mutation | G | A | p.P3199L |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61831049 | 61831049 | Missense_Mutation | G | A | p.P3197L |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 61828395 | 61836206 | 61831068 | 61831068 | Missense_Mutation | C | G | p.A3191P |
| YH13_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61831068 | 61831068 | Missense_Mutation | C | T | p.A3191T |
| HCT15_LARGE_INTESTINE | 61828395 | 61836206 | 61831114 | 61831114 | Missense_Mutation | C | A | p.E3175D |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61831248 | 61831248 | Missense_Mutation | T | C | p.T3131A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61831262 | 61831262 | Missense_Mutation | T | C | p.Q3126R |
| HCT15_LARGE_INTESTINE | 61828395 | 61836206 | 61831407 | 61831407 | Missense_Mutation | C | T | p.A3078T |
| SNU81_LARGE_INTESTINE | 61828395 | 61836206 | 61831487 | 61831487 | Missense_Mutation | G | T | p.S3051Y |
| NCIH1339_LUNG | 61828395 | 61836206 | 61831580 | 61831580 | Missense_Mutation | G | A | p.S3020L |
| CP50MELB_SKIN | 61828395 | 61836206 | 61831655 | 61831655 | Missense_Mutation | G | A | p.S2995F |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61831674 | 61831674 | Missense_Mutation | C | T | p.E2989K |
| CFPAC1_PANCREAS | 61828395 | 61836206 | 61831691 | 61831691 | Missense_Mutation | G | A | p.S2983L |
| HEC251_ENDOMETRIUM | 61828395 | 61836206 | 61831702 | 61831702 | Missense_Mutation | A | C | p.F2979L |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 61828395 | 61836206 | 61831710 | 61831710 | Missense_Mutation | C | T | p.D2977N |
| SNU175_LARGE_INTESTINE | 61828395 | 61836206 | 61831724 | 61831724 | Missense_Mutation | G | A | p.S2972F |
| HEC251_ENDOMETRIUM | 61828395 | 61836206 | 61831854 | 61831854 | Missense_Mutation | A | C | p.L2929V |
| NCIH1838_LUNG | 61828395 | 61836206 | 61831874 | 61831874 | Missense_Mutation | T | G | p.K2922T |
| JHUEM7_ENDOMETRIUM | 61828395 | 61836206 | 61832027 | 61832027 | Missense_Mutation | G | A | p.S2871L |
| OVCAR5_OVARY | 61828395 | 61836206 | 61832027 | 61832027 | Missense_Mutation | G | A | p.S2871L |
| SNUC2A_LARGE_INTESTINE | 61828395 | 61836206 | 61832046 | 61832046 | Missense_Mutation | A | T | p.S2865T |
| SNUC2B_LARGE_INTESTINE | 61828395 | 61836206 | 61832046 | 61832046 | Missense_Mutation | A | T | p.S2865T |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61832054 | 61832054 | Missense_Mutation | T | C | p.N2862S |
| SKMG1_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61832191 | 61832191 | Missense_Mutation | C | A | p.M2816I |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61832297 | 61832297 | Missense_Mutation | T | G | p.Q2781P |
| NCCSTCK140_STOMACH | 61828395 | 61836206 | 61832316 | 61832316 | Missense_Mutation | C | T | p.D2775N |
| A375_SKIN | 61828395 | 61836206 | 61832342 | 61832342 | Missense_Mutation | T | G | p.K2766T |
| SNU61_LARGE_INTESTINE | 61828395 | 61836206 | 61832458 | 61832458 | Missense_Mutation | G | C | p.H2727Q |
| MEWO_SKIN | 61828395 | 61836206 | 61832472 | 61832472 | Missense_Mutation | C | T | p.E2723K |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61832577 | 61832577 | Missense_Mutation | T | C | p.T2688A |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61832589 | 61832589 | Missense_Mutation | C | T | p.D2684N |
| SNUC4_LARGE_INTESTINE | 61828395 | 61836206 | 61832705 | 61832705 | Missense_Mutation | T | C | p.E2645G |
| NCIH2009_LUNG | 61828395 | 61836206 | 61832706 | 61832706 | Missense_Mutation | C | T | p.E2645K |
| BT474_BREAST | 61828395 | 61836206 | 61832769 | 61832769 | Missense_Mutation | G | C | p.Q2624E |
| NCIH838_LUNG | 61828395 | 61836206 | 61832781 | 61832781 | Missense_Mutation | C | T | p.E2620K |
| LOVO_LARGE_INTESTINE | 61828395 | 61836206 | 61832825 | 61832825 | Missense_Mutation | T | C | p.E2605G |
| NCIH378_LUNG | 61828395 | 61836206 | 61832853 | 61832853 | Missense_Mutation | G | A | p.R2596C |
| HT115_LARGE_INTESTINE | 61828395 | 61836206 | 61833096 | 61833096 | Missense_Mutation | G | T | p.L2515I |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61833102 | 61833102 | Missense_Mutation | C | G | p.E2513Q |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61833131 | 61833131 | Missense_Mutation | C | T | p.R2503K |
| SNGM_ENDOMETRIUM | 61828395 | 61836206 | 61833219 | 61833219 | Missense_Mutation | C | T | p.D2474N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61833236 | 61833236 | Missense_Mutation | A | G | p.L2468P |
| SNU475_LIVER | 61828395 | 61836206 | 61833243 | 61833243 | Missense_Mutation | T | C | p.K2466E |
| OVCAR8_OVARY | 61828395 | 61836206 | 61833258 | 61833258 | Missense_Mutation | A | G | p.Y2461H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61833274 | 61833274 | Missense_Mutation | T | G | p.E2455D |
| NCIH513_PLEURA | 61828395 | 61836206 | 61833288 | 61833288 | Missense_Mutation | C | A | p.D2451Y |
| HEC251_ENDOMETRIUM | 61828395 | 61836206 | 61833330 | 61833330 | Missense_Mutation | T | C | p.T2437A |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61833371 | 61833371 | Missense_Mutation | C | T | p.R2423H |
| HCC2998_LARGE_INTESTINE | 61828395 | 61836206 | 61833372 | 61833372 | Missense_Mutation | G | A | p.R2423C |
| HOP92_LUNG | 61828395 | 61836206 | 61833389 | 61833389 | Missense_Mutation | G | T | p.S2417Y |
| NCIH596_LUNG | 61828395 | 61836206 | 61833429 | 61833429 | Missense_Mutation | G | C | p.P2404A |
| MEWO_SKIN | 61828395 | 61836206 | 61833498 | 61833498 | Missense_Mutation | C | T | p.D2381N |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61833549 | 61833549 | Missense_Mutation | C | T | p.D2364N |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61833570 | 61833570 | Missense_Mutation | C | T | p.E2357K |
| HEC59_ENDOMETRIUM | 61828395 | 61836206 | 61833695 | 61833695 | Missense_Mutation | T | C | p.H2315R |
| SNU324_PANCREAS | 61828395 | 61836206 | 61833792 | 61833792 | Missense_Mutation | C | T | p.G2283R |
| SARC9371_BONE | 61828395 | 61836206 | 61833863 | 61833863 | Missense_Mutation | C | T | p.G2259D |
| SARC9371_BONE | 61828395 | 61836206 | 61833866 | 61833866 | Missense_Mutation | G | A | p.P2258L |
| MCC13_SKIN | 61828395 | 61836206 | 61833869 | 61833870 | Missense_Mutation | GG | AT | p.P2257I |
| MCC13_SKIN | 61828395 | 61836206 | 61833869 | 61833869 | Missense_Mutation | G | A | p.P2257L |
| MCC13_SKIN | 61828395 | 61836206 | 61833870 | 61833870 | Missense_Mutation | G | T | p.P2257T |
| DU145_PROSTATE | 61828395 | 61836206 | 61833885 | 61833885 | Missense_Mutation | T | C | p.M2252V |
| SNU175_LARGE_INTESTINE | 61828395 | 61836206 | 61833924 | 61833924 | Missense_Mutation | G | A | p.R2239C |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61833947 | 61833947 | Missense_Mutation | T | C | p.N2231S |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61834071 | 61834071 | Missense_Mutation | C | T | p.E2190K |
| SNU175_LARGE_INTESTINE | 61828395 | 61836206 | 61834072 | 61834072 | Missense_Mutation | C | A | p.E2189D |
| HCC2998_LARGE_INTESTINE | 61828395 | 61836206 | 61834113 | 61834113 | Missense_Mutation | A | G | p.Y2176H |
| MEWO_SKIN | 61828395 | 61836206 | 61834269 | 61834269 | Missense_Mutation | G | A | p.P2124S |
| MM386_SKIN | 61828395 | 61836206 | 61834319 | 61834319 | Missense_Mutation | G | A | p.T2107I |
| HEC251_ENDOMETRIUM | 61828395 | 61836206 | 61834319 | 61834319 | Missense_Mutation | G | A | p.T2107I |
| KON_UPPER_AERODIGESTIVE_TRACT | 61828395 | 61836206 | 61834451 | 61834451 | Missense_Mutation | C | T | p.R2063K |
| HEC59_ENDOMETRIUM | 61828395 | 61836206 | 61834472 | 61834472 | Missense_Mutation | G | C | p.A2056G |
| HCC1569_BREAST | 61828395 | 61836206 | 61834580 | 61834580 | Missense_Mutation | G | A | p.A2020V |
| COLO792_SKIN | 61828395 | 61836206 | 61834601 | 61834601 | Missense_Mutation | G | A | p.P2013L |
| MZ7MEL_SKIN | 61828395 | 61836206 | 61834640 | 61834640 | Missense_Mutation | G | A | p.A2000V |
| NCIH64_LUNG | 61828395 | 61836206 | 61834654 | 61834654 | Missense_Mutation | T | A | p.E1995D |
| SNU81_LARGE_INTESTINE | 61828395 | 61836206 | 61834658 | 61834658 | Missense_Mutation | G | A | p.S1994L |
| IPC298_SKIN | 61828395 | 61836206 | 61834755 | 61834755 | Missense_Mutation | G | A | p.L1962F |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61834778 | 61834778 | Missense_Mutation | T | C | p.D1954G |
| UMUC6_URINARY_TRACT | 61828395 | 61836206 | 61834826 | 61834826 | Missense_Mutation | C | T | p.R1938K |
| HEC59_ENDOMETRIUM | 61828395 | 61836206 | 61834889 | 61834889 | Missense_Mutation | G | A | p.A1917V |
| C3A_LIVER | 61828395 | 61836206 | 61834905 | 61834905 | Missense_Mutation | G | C | p.L1912V |
| LN215_CENTRAL_NERVOUS_SYSTEM | 61828395 | 61836206 | 61834910 | 61834910 | Missense_Mutation | T | A | p.E1910V |
| SW982_SOFT_TISSUE | 61828395 | 61836206 | 61835096 | 61835096 | Missense_Mutation | G | A | p.S1848L |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61835145 | 61835145 | Missense_Mutation | G | A | p.P1832S |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61835229 | 61835229 | Missense_Mutation | G | T | p.L1804I |
| SW684_SOFT_TISSUE | 61828395 | 61836206 | 61835312 | 61835312 | Missense_Mutation | G | A | p.S1776F |
| GP5D_LARGE_INTESTINE | 61828395 | 61836206 | 61835334 | 61835334 | Missense_Mutation | T | C | p.T1769A |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 61828395 | 61836206 | 61835406 | 61835406 | Missense_Mutation | T | G | p.I1745L |
| MG63_BONE | 61828395 | 61836206 | 61835420 | 61835420 | Missense_Mutation | G | A | p.T1740M |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61835420 | 61835420 | Missense_Mutation | G | A | p.T1740M |
| HEC108_ENDOMETRIUM | 61828395 | 61836206 | 61835442 | 61835442 | Missense_Mutation | T | C | p.N1733D |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61835508 | 61835508 | Missense_Mutation | C | A | p.A1711S |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61835523 | 61835523 | Missense_Mutation | G | T | p.Q1706K |
| HARA_LUNG | 61828395 | 61836206 | 61835570 | 61835570 | Missense_Mutation | G | A | p.S1690L |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61835669 | 61835669 | Missense_Mutation | C | T | p.S1657N |
| UMC11_LUNG | 61828395 | 61836206 | 61835670 | 61835670 | Missense_Mutation | T | C | p.S1657G |
| HCC2998_LARGE_INTESTINE | 61828395 | 61836206 | 61835781 | 61835781 | Missense_Mutation | A | G | p.F1620L |
| TUHR10TKB_KIDNEY | 61828395 | 61836206 | 61835873 | 61835873 | Missense_Mutation | G | A | p.P1589L |
| SNU1040_LARGE_INTESTINE | 61828395 | 61836206 | 61835874 | 61835874 | Missense_Mutation | G | A | p.P1589S |
| ISTMES1_PLEURA | 61828395 | 61836206 | 61835921 | 61835921 | Missense_Mutation | G | A | p.S1573F |
| CAR1_LARGE_INTESTINE | 61828395 | 61836206 | 61835928 | 61835928 | Missense_Mutation | T | C | p.I1571V |
| MEWO_SKIN | 61828395 | 61836206 | 61835930 | 61835930 | Missense_Mutation | G | A | p.P1570L |
| MCC13_SKIN | 61828395 | 61836206 | 61836008 | 61836008 | Missense_Mutation | G | A | p.S1544L |
| HT115_LARGE_INTESTINE | 61828395 | 61836206 | 61836008 | 61836008 | Missense_Mutation | G | A | p.S1544L |
| NCIH1373_LUNG | 61828395 | 61836206 | 61836105 | 61836105 | Missense_Mutation | T | C | p.T1512A |
| HCC2450_LUNG | 61828395 | 61836206 | 61836137 | 61836137 | Missense_Mutation | C | G | p.R1501T |
| SW1417_LARGE_INTESTINE | 61828395 | 61836206 | 61836189 | 61836189 | Missense_Mutation | C | T | p.A1484T |
| RT112_URINARY_TRACT | 61926349 | 61926411 | 61926355 | 61926355 | Missense_Mutation | C | T | p.E870K |
| WM278_SKIN | 61926349 | 61926411 | 61926391 | 61926391 | Missense_Mutation | C | T | p.E858K |
| HPAFII_PANCREAS | 61926349 | 61926411 | 61926409 | 61926409 | Missense_Mutation | G | A | p.R852C |
| NCIH1838_LUNG | 61955903 | 61956001 | 61955953 | 61955953 | Missense_Mutation | C | A | p.V613L |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61955903 | 61956001 | 61955994 | 61955994 | Missense_Mutation | A | G | p.L599P |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61955903 | 61956001 | 61955994 | 61955994 | Missense_Mutation | A | G | p.L599P |
| NCIH378_LUNG | 61955903 | 61956001 | 61955998 | 61955998 | Missense_Mutation | C | A | p.G598W |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61959887 | 61959985 | 61959930 | 61959930 | Missense_Mutation | C | T | p.R483Q |
| SNU601_STOMACH | 61828395 | 61836206 | 61831649 | 61831649 | Nonsense_Mutation | G | T | p.S2997* |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61828395 | 61836206 | 61833039 | 61833039 | Nonsense_Mutation | C | A | p.E2534* |
| NB1_AUTONOMIC_GANGLIA | 61828395 | 61836206 | 61834359 | 61834359 | Nonsense_Mutation | C | A | p.E2094* |
| MESSA_SOFT_TISSUE | 61828395 | 61836206 | 61834531 | 61834531 | Nonsense_Mutation | G | C | p.Y2036* |
| JHUEM7_ENDOMETRIUM | 61828395 | 61836206 | 61835108 | 61835108 | Nonsense_Mutation | G | T | p.S1844* |
| HEC6_ENDOMETRIUM | 61828395 | 61836206 | 61835882 | 61835882 | Nonsense_Mutation | G | T | p.S1586* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANK3 |
| 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 ANK3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANK3 |
Top |
RelatedDrugs for ANK3 |
| 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 ANK3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ANK3 | C0005586 | Bipolar Disorder | 7 | CTD_human;PSYGENET |
| ANK3 | C0036341 | Schizophrenia | 3 | PSYGENET |
| ANK3 | C0033975 | Psychotic Disorders | 2 | PSYGENET |
| ANK3 | C0525045 | Mood Disorders | 2 | PSYGENET |
| ANK3 | C0033300 | Progeria | 1 | CTD_human |
| ANK3 | C0038220 | Status Epilepticus | 1 | CTD_human |
| ANK3 | C0178417 | Anhedonia | 1 | PSYGENET |
| ANK3 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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