| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294576 | 17 | 79801941:79801968:79803019:79803106:79803436:79803523 | 79803019:79803106 | ENSG00000185624.10 | ENST00000439918.2,ENST00000575069.1,ENST00000571617.1,ENST00000571507.1,ENST00000476482.1,ENST00000331483.4,ENST00000415593.1 |
| exon_skip_294580 | 17 | 79803019:79803106:79803436:79803618:79803746:79803867 | 79803436:79803618 | ENSG00000185624.10 | ENST00000439918.2,ENST00000575069.1,ENST00000476482.1,ENST00000331483.4,ENST00000415593.1 |
| exon_skip_294586 | 17 | 79803535:79803618:79803746:79803867:79804304:79804383 | 79803746:79803867 | ENSG00000185624.10 | ENST00000439918.2,ENST00000575069.1,ENST00000476482.1,ENST00000331483.4,ENST00000415593.1 |
| exon_skip_294589 | 17 | 79804418:79804505:79804822:79804888:79805118:79805203 | 79804822:79804888 | ENSG00000185624.10 | ENST00000415593.1 |
| exon_skip_294590 | 17 | 79804418:79804505:79804822:79804948:79805118:79805203 | 79804822:79804948 | ENSG00000185624.10 | ENST00000439918.2,ENST00000575069.1,ENST00000570907.1,ENST00000477607.2,ENST00000478034.1,ENST00000576380.1,ENST00000331483.4,ENST00000472244.1 |
| exon_skip_294592 | 17 | 79804907:79804948:79805118:79805223:79813017:79813155 | 79805118:79805223 | ENSG00000185624.10 | ENST00000439918.2,ENST00000574007.1,ENST00000575069.1,ENST00000477607.2,ENST00000478034.1,ENST00000573778.2,ENST00000576380.1,ENST00000331483.4,ENST00000472244.1 |
| exon_skip_294596 | 17 | 79805202:79805223:79813017:79813155:79817054:79817263 | 79813017:79813155 | ENSG00000185624.10 | ENST00000439918.2 |
| exon_skip_294597 | 17 | 79805202:79805223:79813017:79813155:79817056:79817091 | 79813017:79813155 | ENSG00000185624.10 | ENST00000576380.1 |
| exon_skip_294600 | 17 | 79805202:79805223:79817054:79817263:79818202:79818354 | 79817054:79817263 | ENSG00000185624.10 | ENST00000576052.1 |
| exon_skip_294605 | 17 | 79813104:79813155:79813328:79813381:79817056:79817091 | 79813328:79813381 | ENSG00000185624.10 | ENST00000576541.1 |
| exon_skip_294607 | 17 | 79813104:79813155:79813328:79813462:79817056:79817091 | 79813328:79813462 | ENSG00000185624.10 | ENST00000574007.1,ENST00000575069.1,ENST00000467086.1,ENST00000574914.1,ENST00000331483.4 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294576 | 17 | 79801941:79801968:79803019:79803106:79803436:79803523 | 79803019:79803106 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000415593.1,ENST00000571507.1,ENST00000476482.1,ENST00000439918.2,ENST00000571617.1 |
| exon_skip_294580 | 17 | 79803019:79803106:79803436:79803618:79803746:79803867 | 79803436:79803618 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000415593.1,ENST00000476482.1,ENST00000439918.2 |
| exon_skip_294586 | 17 | 79803535:79803618:79803746:79803867:79804304:79804383 | 79803746:79803867 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000415593.1,ENST00000476482.1,ENST00000439918.2 |
| exon_skip_294589 | 17 | 79804418:79804505:79804822:79804888:79805118:79805203 | 79804822:79804888 | ENSG00000185624.10 | ENST00000415593.1 |
| exon_skip_294590 | 17 | 79804418:79804505:79804822:79804948:79805118:79805203 | 79804822:79804948 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000439918.2,ENST00000478034.1,ENST00000576380.1,ENST00000477607.2,ENST00000472244.1,ENST00000570907.1 |
| exon_skip_294592 | 17 | 79804907:79804948:79805118:79805223:79813017:79813155 | 79805118:79805223 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000439918.2,ENST00000478034.1,ENST00000576380.1,ENST00000477607.2,ENST00000472244.1,ENST00000574007.1,ENST00000573778.2 |
| exon_skip_294596 | 17 | 79805202:79805223:79813017:79813155:79817054:79817263 | 79813017:79813155 | ENSG00000185624.10 | ENST00000439918.2 |
| exon_skip_294597 | 17 | 79805202:79805223:79813017:79813155:79817056:79817091 | 79813017:79813155 | ENSG00000185624.10 | ENST00000576380.1 |
| exon_skip_294600 | 17 | 79805202:79805223:79817054:79817263:79818202:79818354 | 79817054:79817263 | ENSG00000185624.10 | ENST00000576052.1 |
| exon_skip_294605 | 17 | 79813104:79813155:79813328:79813381:79817056:79817091 | 79813328:79813381 | ENSG00000185624.10 | ENST00000576541.1 |
| exon_skip_294607 | 17 | 79813104:79813155:79813328:79813462:79817056:79817091 | 79813328:79813462 | ENSG00000185624.10 | ENST00000331483.4,ENST00000575069.1,ENST00000574007.1,ENST00000574914.1,ENST00000467086.1 |
| 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 |
| P07237 | 208 | 243 | 199 | 209 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 212 | 215 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 237 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 208 | 243 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 208 | 243 | 222 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 222 | 222 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09103 |
| P07237 | 208 | 243 | 242 | 244 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 250 | 252 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 255 | 260 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 265 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 243 | 285 | 245 | 249 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 268 | 280 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 271 | 271 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09103 |
| P07237 | 243 | 285 | 242 | 244 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 281 | 285 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 453 | 482 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 453 | 482 | 349 | 475 | Domain | Note=Thioredoxin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
| P07237 | 453 | 482 | 463 | 470 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UEM |
| P07237 | 453 | 482 | 460 | 460 | Sequence conflict | Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07237 | 453 | 482 | 481 | 481 | Sequence conflict | Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07237 | 453 | 482 | 461 | 461 | Site | Note=Lowers pKa of C-terminal Cys of second active site;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P07237 | 453 | 482 | 471 | 473 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UEM |
| 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 |
| P07237 | 208 | 243 | 199 | 209 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 212 | 215 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 237 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 208 | 243 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 208 | 243 | 222 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JU5 |
| P07237 | 208 | 243 | 222 | 222 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09103 |
| P07237 | 208 | 243 | 242 | 244 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 250 | 252 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 255 | 260 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 265 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 243 | 285 | 245 | 249 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 268 | 280 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 271 | 271 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09103 |
| P07237 | 243 | 285 | 242 | 244 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 243 | 285 | 281 | 285 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJ5 |
| P07237 | 453 | 482 | 18 | 508 | Chain | ID=PRO_0000034195;Note=Protein disulfide-isomerase |
| P07237 | 453 | 482 | 349 | 475 | Domain | Note=Thioredoxin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
| P07237 | 453 | 482 | 463 | 470 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UEM |
| P07237 | 453 | 482 | 460 | 460 | Sequence conflict | Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07237 | 453 | 482 | 481 | 481 | Sequence conflict | Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07237 | 453 | 482 | 461 | 461 | Site | Note=Lowers pKa of C-terminal Cys of second active site;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P07237 | 453 | 482 | 471 | 473 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UEM |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BS-A0TJ-01 |
| Cancer type: UCEC |
| ESID: exon_skip_294586 |
| Skipped exon start: 79803747 |
| Skipped exon end: 79803867 |
| Mutation start: 79803764 |
| Mutation end: 79803764 |
| Mutation type: Frame_Shift_Del |
| Reference seq: T |
| Mutation seq: - |
| AAchange: p.N387fs |
exon_skip_156153_UCEC_TCGA-BS-A0TJ-01.png
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exon_skip_294586_UCEC_TCGA-BS-A0TJ-01.png
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 | Sample: TCGA-D1-A17U-01 |
| Cancer type: UCEC |
| ESID: exon_skip_294586 |
| Skipped exon start: 79803747 |
| Skipped exon end: 79803867 |
| Mutation start: 79803764 |
| Mutation end: 79803764 |
| Mutation type: Frame_Shift_Del |
| Reference seq: T |
| Mutation seq: - |
| AAchange: p.N387fs |
exon_skip_135111_UCEC_TCGA-D1-A17U-01.png
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exon_skip_135112_UCEC_TCGA-D1-A17U-01.png
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exon_skip_135114_UCEC_TCGA-D1-A17U-01.png
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exon_skip_286384_UCEC_TCGA-D1-A17U-01.png
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exon_skip_294586_UCEC_TCGA-D1-A17U-01.png
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exon_skip_365789_UCEC_TCGA-D1-A17U-01.png
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exon_skip_43714_UCEC_TCGA-D1-A17U-01.png
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| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CW2_LARGE_INTESTINE | 79803020 | 79803106 | 79803088 | 79803088 | Frame_Shift_Del | C | - | p.E460fs |
| SISO_CERVIX | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| SKMEL2_SKIN | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| HEC151_ENDOMETRIUM | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| HEC59_ENDOMETRIUM | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| HEC6_ENDOMETRIUM | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| RKO_LARGE_INTESTINE | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| JHUEM1_ENDOMETRIUM | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| SNU407_LARGE_INTESTINE | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803747 | 79803867 | 79803764 | 79803764 | Frame_Shift_Del | T | - | p.N387fs |
| EN_ENDOMETRIUM | 79813018 | 79813155 | 79813123 | 79813124 | Frame_Shift_Ins | - | A | p.L173fs |
| UMUC16_URINARY_TRACT | 79803020 | 79803106 | 79803025 | 79803025 | Missense_Mutation | C | G | p.D481H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803020 | 79803106 | 79803041 | 79803041 | Missense_Mutation | C | A | p.Q475H |
| UMUC16_URINARY_TRACT | 79803020 | 79803106 | 79803065 | 79803065 | Missense_Mutation | C | G | p.K467N |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803020 | 79803106 | 79803084 | 79803084 | Missense_Mutation | C | T | p.R461H |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803437 | 79803618 | 79803439 | 79803439 | Missense_Mutation | T | G | p.T453P |
| 2313287_STOMACH | 79803437 | 79803618 | 79803439 | 79803439 | Missense_Mutation | T | C | p.T453A |
| IPC298_SKIN | 79803437 | 79803618 | 79803494 | 79803495 | Missense_Mutation | GG | AA | p.A434V |
| IPC298_SKIN | 79803437 | 79803618 | 79803495 | 79803495 | Missense_Mutation | G | A | p.A434V |
| SW1353_BONE | 79803437 | 79803618 | 79803516 | 79803516 | Missense_Mutation | G | A | p.S427L |
| SNU1040_LARGE_INTESTINE | 79803437 | 79803618 | 79803529 | 79803529 | Missense_Mutation | C | T | p.A423T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803747 | 79803867 | 79803830 | 79803830 | Missense_Mutation | T | C | p.D365G |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79803747 | 79803867 | 79803842 | 79803842 | Missense_Mutation | G | A | p.P361L |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79804823 | 79804948 | 79804876 | 79804876 | Missense_Mutation | A | C | p.Y268D |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79804823 | 79804888 | 79804876 | 79804876 | Missense_Mutation | A | C | p.Y268D |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79805119 | 79805223 | 79805150 | 79805150 | Missense_Mutation | T | C | p.Q233R |
| MCC13_SKIN | 79805119 | 79805223 | 79805155 | 79805155 | Missense_Mutation | G | C | p.H231Q |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79805119 | 79805223 | 79805217 | 79805217 | Missense_Mutation | C | T | p.E211K |
| ES2_OVARY | 79813018 | 79813155 | 79813032 | 79813032 | Missense_Mutation | C | A | p.V204F |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79813018 | 79813155 | 79813095 | 79813095 | Missense_Mutation | G | A | p.P183S |
| NCIH2172_LUNG | 79813018 | 79813155 | 79813101 | 79813101 | Missense_Mutation | C | T | p.D181N |
| KMRC2_KIDNEY | 79813329 | 79813381 | 79813334 | 79813334 | Missense_Mutation | A | G | p.F161L |
| KMRC2_KIDNEY | 79813329 | 79813462 | 79813334 | 79813334 | Missense_Mutation | A | G | p.F161L |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79813329 | 79813381 | 79813348 | 79813348 | Missense_Mutation | G | A | p.A156V |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79813329 | 79813462 | 79813348 | 79813348 | Missense_Mutation | G | A | p.A156V |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79817055 | 79817263 | 79817074 | 79817074 | Missense_Mutation | G | A | p.S112F |
| A2780_OVARY | 79817055 | 79817263 | 79817089 | 79817089 | Missense_Mutation | T | C | p.N107S |
| SBC3_LUNG | 79817055 | 79817263 | 79817146 | 79817146 | Missense_Mutation | G | C | p.S88C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79817055 | 79817263 | 79817194 | 79817194 | Missense_Mutation | G | A | p.A72V |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_294576 | 17 | 79801941:79801968:79803019:79803106:79803436:79803523 | 79803019:79803106 | ENST00000439918.2,ENST00000575069.1,ENST00000571617.1,ENST00000571507.1,ENST00000476482.1,ENST00000331483.4,ENST00000415593.1 | BRCA | rs1130674 | chr17:79803101 | A/G | 5.49e-03
|
| exon_skip_294592 | 17 | 79804907:79804948:79805118:79805223:79813017:79813155 | 79805118:79805223 | ENST00000439918.2,ENST00000574007.1,ENST00000575069.1,ENST00000477607.2,ENST00000478034.1,ENST00000573778.2,ENST00000576380.1,ENST00000331483.4,ENST00000472244.1 | LGG | rs2070871 | chr17:79805134 | A/G | 2.68e-03
|