| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_336006 | 2 | 242295713:242295803:242312498:242312705:242343242:242343317 | 242312498:242312705 | ENSG00000006607.9 | ENST00000545004.1,ENST00000373287.4 |
| exon_skip_336007 | 2 | 242312603:242312705:242326569:242326727:242343242:242343317 | 242326569:242326727 | ENSG00000006607.9 | ENST00000464142.1 |
| exon_skip_336008 | 2 | 242312603:242312705:242334857:242334873:242343242:242343347 | 242334857:242334873 | ENSG00000006607.9 | ENST00000478489.1 |
| exon_skip_336014 | 2 | 242343242:242343347:242344213:242344256:242344670:242344818 | 242344213:242344256 | ENSG00000006607.9 | ENST00000473082.1 |
| exon_skip_336015 | 2 | 242343242:242343347:242344213:242344256:242346951:242347023 | 242344213:242344256 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000418082.1,ENST00000373287.4 |
| exon_skip_336019 | 2 | 242344213:242344256:242346951:242347030:242350447:242350545 | 242346951:242347030 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000373287.4 |
| exon_skip_336021 | 2 | 242371093:242371189:242373572:242373736:242374376:242374445 | 242373572:242373736 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000373287.4 |
| exon_skip_336022 | 2 | 242373644:242373736:242374376:242374445:242375895:242375953 | 242374376:242374445 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000413432.2,ENST00000373287.4 |
| exon_skip_336023 | 2 | 242374376:242374445:242375895:242375953:242380718:242380971 | 242375895:242375953 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000413432.2,ENST00000373287.4 |
| exon_skip_336027 | 2 | 242375895:242375953:242380718:242380971:242396161:242396337 | 242380718:242380971 | ENSG00000006607.9 | ENST00000545004.1,ENST00000264042.3,ENST00000373287.4 |
| exon_skip_336036 | 2 | 242407554:242407792:242415271:242415402:242422879:242422948 | 242415271:242415402 | ENSG00000006607.9 | ENST00000264042.3 |
| exon_skip_336041 | 2 | 242430930:242431094:242432343:242432451:242432707:242432859 | 242432343:242432451 | ENSG00000006607.9 | ENST00000264042.3,ENST00000470617.1 |
| exon_skip_336043 | 2 | 242432343:242432451:242432707:242432859:242433422:242433534 | 242432707:242432859 | ENSG00000006607.9 | ENST00000264042.3,ENST00000470617.1 |
| exon_skip_336045 | 2 | 242432807:242432859:242433422:242433556:242433891:242434255 | 242433422:242433556 | ENSG00000006607.9 | ENST00000412332.1 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_336006 | 2 | 242295713:242295803:242312498:242312705:242343242:242343317 | 242312498:242312705 | ENSG00000006607.9 | ENST00000545004.1,ENST00000373287.4 |
| exon_skip_336007 | 2 | 242312603:242312705:242326569:242326727:242343242:242343317 | 242326569:242326727 | ENSG00000006607.9 | ENST00000464142.1 |
| exon_skip_336008 | 2 | 242312603:242312705:242334857:242334873:242343242:242343347 | 242334857:242334873 | ENSG00000006607.9 | ENST00000478489.1 |
| exon_skip_336014 | 2 | 242343242:242343347:242344213:242344256:242344670:242344818 | 242344213:242344256 | ENSG00000006607.9 | ENST00000473082.1 |
| exon_skip_336015 | 2 | 242343242:242343347:242344213:242344256:242346951:242347023 | 242344213:242344256 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000418082.1 |
| exon_skip_336019 | 2 | 242344213:242344256:242346951:242347030:242350447:242350545 | 242346951:242347030 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4 |
| exon_skip_336021 | 2 | 242371093:242371189:242373572:242373736:242374376:242374445 | 242373572:242373736 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4 |
| exon_skip_336022 | 2 | 242373644:242373736:242374376:242374445:242375895:242375953 | 242374376:242374445 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000413432.2 |
| exon_skip_336023 | 2 | 242374376:242374445:242375895:242375953:242380718:242380971 | 242375895:242375953 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000413432.2 |
| exon_skip_336027 | 2 | 242375895:242375953:242380718:242380971:242396161:242396337 | 242380718:242380971 | ENSG00000006607.9 | ENST00000264042.3,ENST00000545004.1,ENST00000373287.4 |
| exon_skip_336036 | 2 | 242407554:242407792:242415271:242415402:242422879:242422948 | 242415271:242415402 | ENSG00000006607.9 | ENST00000264042.3 |
| exon_skip_336041 | 2 | 242430930:242431094:242432343:242432451:242432707:242432859 | 242432343:242432451 | ENSG00000006607.9 | ENST00000264042.3,ENST00000470617.1 |
| exon_skip_336043 | 2 | 242432343:242432451:242432707:242432859:242433422:242433534 | 242432707:242432859 | ENSG00000006607.9 | ENST00000264042.3,ENST00000470617.1 |
| exon_skip_336045 | 2 | 242432807:242432859:242433422:242433556:242433891:242434255 | 242433422:242433556 | ENSG00000006607.9 | ENST00000412332.1 |
| 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 |
| O94887 | 344 | 366 | 1 | 1054 | Chain | ID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2 |
| O94887 | 344 | 366 | 366 | 366 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O94887 | 929 | 965 | 639 | 1054 | Alternative sequence | ID=VSP_054841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O94887 | 929 | 965 | 648 | 1054 | Alternative sequence | ID=VSP_017978;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94887 | 929 | 965 | 1 | 1054 | Chain | ID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2 |
| O94887 | 929 | 965 | 929 | 1026 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| 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 |
| O94887 | 344 | 366 | 1 | 1054 | Chain | ID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2 |
| O94887 | 344 | 366 | 366 | 366 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O94887 | 929 | 965 | 639 | 1054 | Alternative sequence | ID=VSP_054841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O94887 | 929 | 965 | 648 | 1054 | Alternative sequence | ID=VSP_017978;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94887 | 929 | 965 | 1 | 1054 | Chain | ID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2 |
| O94887 | 929 | 965 | 929 | 1026 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-P4-A5EA-01 |
| Cancer type: KIRP |
| ESID: exon_skip_336045 |
| Skipped exon start: 242433423 |
| Skipped exon end: 242433556 |
| Mutation start: 242433486 |
| Mutation end: 242433487 |
| Mutation type: Frame_Shift_Ins |
| Reference seq: - |
| Mutation seq: G |
| AAchange: p.D1037fs |
exon_skip_336045_KIRP_TCGA-P4-A5EA-01.png
 |
 | Sample: TCGA-2H-A9GM-01 |
| Cancer type: ESCA |
| ESID: exon_skip_336006 |
| Skipped exon start: 242312499 |
| Skipped exon end: 242312705 |
| Mutation start: 242312706 |
| Mutation end: 242312706 |
| Mutation type: Splice_Site |
| Reference seq: G |
| Mutation seq: T |
| AAchange: . |
 | Sample: TCGA-2H-A9GM-01 |
| Cancer type: ESCA |
| ESID: exon_skip_336006 |
| Skipped exon start: 242312499 |
| Skipped exon end: 242312705 |
| Mutation start: 242312706 |
| Mutation end: 242312706 |
| Mutation type: Splice_Site |
| Reference seq: G |
| Mutation seq: T |
| AAchange: e1+1 |
exon_skip_336006_ESCA_TCGA-2H-A9GM-01.png
 |
exon_skip_99964_ESCA_TCGA-2H-A9GM-01.png
 |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LS411N_LARGE_INTESTINE | 242373573 | 242373736 | 242373660 | 242373660 | Frame_Shift_Del | T | - | p.F320fs |
| RKO_LARGE_INTESTINE | 242380719 | 242380971 | 242380947 | 242380947 | Frame_Shift_Del | C | - | p.P464fs |
| LS411N_LARGE_INTESTINE | 242433423 | 242433556 | 242433524 | 242433524 | Frame_Shift_Del | G | - | p.R1050fs |
| HEC265_ENDOMETRIUM | 242346952 | 242347030 | 242346986 | 242346987 | Frame_Shift_Ins | - | T | p.F123fs |
| NCIH513_PLEURA | 242312499 | 242312705 | 242312625 | 242312625 | Missense_Mutation | C | G | p.L35V |
| MFE280_ENDOMETRIUM | 242312499 | 242312705 | 242312657 | 242312657 | Missense_Mutation | C | G | p.H45Q |
| SARC9371_BONE | 242312499 | 242312705 | 242312688 | 242312688 | Missense_Mutation | G | A | p.E56K |
| HT115_LARGE_INTESTINE | 242344214 | 242344256 | 242344233 | 242344233 | Missense_Mutation | A | C | p.K103T |
| KPNRTBM1_AUTONOMIC_GANGLIA | 242346952 | 242347030 | 242346964 | 242346964 | Missense_Mutation | T | C | p.V115A |
| HCC2450_LUNG | 242373573 | 242373736 | 242373634 | 242373634 | Missense_Mutation | G | C | p.W310S |
| SNU1040_LARGE_INTESTINE | 242373573 | 242373736 | 242373700 | 242373700 | Missense_Mutation | C | T | p.A332V |
| HEC251_ENDOMETRIUM | 242374377 | 242374445 | 242374395 | 242374395 | Missense_Mutation | A | C | p.Q350H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 242374377 | 242374445 | 242374408 | 242374408 | Missense_Mutation | T | G | p.F355V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 242374377 | 242374445 | 242374417 | 242374417 | Missense_Mutation | A | G | p.S358G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242375896 | 242375953 | 242375936 | 242375936 | Missense_Mutation | G | A | p.A381T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242380719 | 242380971 | 242380768 | 242380768 | Missense_Mutation | C | T | p.A403V |
| OV90_OVARY | 242380719 | 242380971 | 242380926 | 242380926 | Missense_Mutation | C | T | p.P456S |
| OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242415272 | 242415402 | 242415305 | 242415305 | Missense_Mutation | C | T | p.T722I |
| CCK81_LARGE_INTESTINE | 242415272 | 242415402 | 242415314 | 242415314 | Missense_Mutation | A | G | p.H725R |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242415272 | 242415402 | 242415342 | 242415342 | Missense_Mutation | G | T | p.Q734H |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242432344 | 242432451 | 242432447 | 242432447 | Missense_Mutation | A | G | p.H964R |
| HCC44_LUNG | 242432708 | 242432859 | 242432750 | 242432750 | Missense_Mutation | G | A | p.V980M |
| ECGI10_OESOPHAGUS | 242432708 | 242432859 | 242432773 | 242432773 | Missense_Mutation | T | G | p.D987E |
| NUGC3_STOMACH | 242432708 | 242432859 | 242432789 | 242432789 | Missense_Mutation | T | C | p.Y993H |
| TE12_OESOPHAGUS | 242433423 | 242433556 | 242433458 | 242433458 | Missense_Mutation | C | G | p.A1028G |
| A253_SALIVARY_GLAND | 242433423 | 242433556 | 242433535 | 242433535 | Missense_Mutation | G | A | p.E1054K |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242344214 | 242344256 | 242344253 | 242344253 | Nonsense_Mutation | C | T | p.R110* |
| HT55_LARGE_INTESTINE | 242373573 | 242373736 | 242373666 | 242373666 | Nonsense_Mutation | A | T | p.R321* |
| NCIH2286_LUNG | 242346952 | 242347030 | 242346952 | 242346952 | Splice_Site | G | T | p.R111M |
| CL34_LARGE_INTESTINE | 242415272 | 242415402 | 242415401 | 242415401 | Splice_Site | G | T | p.R754M |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_336043 | 2 | 242432343:242432451:242432707:242432859:242433422:242433534 | 242432707:242432859 | ENST00000264042.3,ENST00000470617.1 | PRAD | rs2271030 | chr2:242432704 | G/C | 2.78e-03
|
| exon_skip_336043 | 2 | 242432343:242432451:242432707:242432859:242433422:242433534 | 242432707:242432859 | ENST00000264042.3,ENST00000470617.1 | PRAD | rs2271030 | chr2:242432704 | G/C | 2.78e-03
|
| exon_skip_336027 | 2 | 242375895:242375953:242380718:242380971:242396161:242396337 | 242380718:242380971 | ENST00000545004.1,ENST00000264042.3,ENST00000373287.4 | LIHC | rs2302015 | chr2:242380748 | T/A | 1.78e-06
|
| exon_skip_336027 | 2 | 242375895:242375953:242380718:242380971:242396161:242396337 | 242380718:242380971 | ENST00000545004.1,ENST00000264042.3,ENST00000373287.4 | LIHC | rs2302015 | chr2:242380748 | T/A | 2.47e-04
|