Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_108213 | 14 | 75230068:75231065:75245149:75245386:75247107:75247287 | 75245149:75245386 | ENSG00000119596.13 | ENST00000238571.3,ENST00000325680.7 |
exon_skip_108215 | 14 | 75248625:75249028:75264282:75266400:75269258:75269379 | 75264282:75266400 | ENSG00000119596.13 | ENST00000238571.3,ENST00000549293.1,ENST00000325680.7 |
exon_skip_108216 | 14 | 75269258:75269379:75276082:75276500:75276612:75276705 | 75276082:75276500 | ENSG00000119596.13 | ENST00000238571.3,ENST00000552421.1,ENST00000549293.1,ENST00000325680.7 |
exon_skip_108217 | 14 | 75282905:75282968:75283273:75283393:75283633:75283810 | 75283273:75283393 | ENSG00000119596.13 | ENST00000547879.1,ENST00000552421.1,ENST00000549293.1,ENST00000325680.7 |
exon_skip_108218 | 14 | 75283940:75283980:75284933:75285017:75287759:75287840 | 75284933:75285017 | ENSG00000119596.13 | ENST00000238571.3,ENST00000547879.1,ENST00000552421.1,ENST00000549293.1,ENST00000325680.7,ENST00000554107.1 |
exon_skip_108222 | 14 | 75287759:75287840:75290958:75291010:75294074:75294735 | 75290958:75291010 | ENSG00000119596.13 | ENST00000546901.1 |
exon_skip_108223 | 14 | 75287763:75287840:75290958:75291010:75295915:75295992 | 75290958:75291010 | ENSG00000119596.13 | ENST00000552421.1,ENST00000325680.7 |
exon_skip_108225 | 14 | 75287759:75287840:75295915:75296046:75301967:75302150 | 75295915:75296046 | ENSG00000119596.13 | ENST00000549293.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_108213 | 14 | 75230068:75231065:75245149:75245386:75247107:75247287 | 75245149:75245386 | ENSG00000119596.13 | ENST00000325680.7,ENST00000238571.3 |
exon_skip_108215 | 14 | 75248625:75249028:75264282:75266400:75269258:75269379 | 75264282:75266400 | ENSG00000119596.13 | ENST00000325680.7,ENST00000238571.3,ENST00000549293.1 |
exon_skip_108216 | 14 | 75269258:75269379:75276082:75276500:75276612:75276705 | 75276082:75276500 | ENSG00000119596.13 | ENST00000552421.1,ENST00000325680.7,ENST00000238571.3,ENST00000549293.1 |
exon_skip_108217 | 14 | 75282905:75282968:75283273:75283393:75283633:75283810 | 75283273:75283393 | ENSG00000119596.13 | ENST00000552421.1,ENST00000325680.7,ENST00000549293.1,ENST00000547879.1 |
exon_skip_108218 | 14 | 75283940:75283980:75284933:75285017:75287759:75287840 | 75284933:75285017 | ENSG00000119596.13 | ENST00000552421.1,ENST00000325680.7,ENST00000238571.3,ENST00000549293.1,ENST00000547879.1,ENST00000554107.1 |
exon_skip_108222 | 14 | 75287759:75287840:75290958:75291010:75294074:75294735 | 75290958:75291010 | ENSG00000119596.13 | ENST00000546901.1 |
exon_skip_108223 | 14 | 75287763:75287840:75290958:75291010:75295915:75295992 | 75290958:75291010 | ENSG00000119596.13 | ENST00000552421.1,ENST00000325680.7 |
exon_skip_108225 | 14 | 75287759:75287840:75295915:75296046:75301967:75302150 | 75295915:75296046 | ENSG00000119596.13 | ENST00000549293.1 |
Depth of coverage in three exons | Mutation description |
| Sample: TCGA-C5-A1MN-01 |
Cancer type: CESC |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75266402 |
Mutation end: 75266402 |
Mutation type: Splice_Site |
Reference seq: T |
Mutation seq: C |
AAchange: e5+2 |
exon_skip_108215_CESC_TCGA-C5-A1MN-01.png
|
| Sample: TCGA-C5-A7CK-01 |
Cancer type: CESC |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75266120 |
Mutation end: 75266120 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.R1374* |
exon_skip_108215_CESC_TCGA-C5-A7CK-01.png
|
| Sample: TCGA-QK-A6VB-01 |
Cancer type: HNSC |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75266069 |
Mutation end: 75266069 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.R1357* |
exon_skip_108215_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_135111_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_135112_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_135114_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_315273_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_457890_HNSC_TCGA-QK-A6VB-01.png
|
exon_skip_81980_HNSC_TCGA-QK-A6VB-01.png
|
| Sample: TCGA-67-3771-01 |
Cancer type: LUAD |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75265292 |
Mutation end: 75265292 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.Q1098* |
exon_skip_108215_LUAD_TCGA-67-3771-01.png
|
exon_skip_10918_LUAD_TCGA-67-3771-01.png
|
exon_skip_137953_LUAD_TCGA-67-3771-01.png
|
exon_skip_374468_LUAD_TCGA-67-3771-01.png
|
exon_skip_517061_LUAD_TCGA-67-3771-01.png
|
exon_skip_517074_LUAD_TCGA-67-3771-01.png
|
exon_skip_7335_LUAD_TCGA-67-3771-01.png
|
exon_skip_73656_LUAD_TCGA-67-3771-01.png
|
| Sample: TCGA-FW-A3R5-06 |
Cancer type: SKCM |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75266120 |
Mutation end: 75266120 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.R1374X |
| Sample: TCGA-FW-A3R5-06 |
Cancer type: SKCM |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75266120 |
Mutation end: 75266120 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.R1374* |
exon_skip_104729_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_108215_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_109629_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_109632_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_109646_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_125176_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_285563_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_285564_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_301134_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_305744_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_311969_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_333572_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_340640_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_361593_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_432257_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_433410_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_456052_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_457524_SKCM_TCGA-FW-A3R5-06.png
|
exon_skip_58343_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_96282_SKCM_TCGA-FW-A3R5-06.png
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exon_skip_96283_SKCM_TCGA-FW-A3R5-06.png
|
| Sample: TCGA-EE-A3J7-06 |
Cancer type: SKCM |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75264455 |
Mutation end: 75264455 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.Q819X |
| Sample: TCGA-EE-A3J7-06 |
Cancer type: SKCM |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75264455 |
Mutation end: 75264455 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.Q819* |
exon_skip_108215_SKCM_TCGA-EE-A3J7-06.png
|
exon_skip_449575_SKCM_TCGA-EE-A3J7-06.png
|
| Sample: TCGA-EE-A2MR-06 |
Cancer type: SKCM |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75265376 |
Mutation end: 75265376 |
Mutation type: Nonsense_Mutation |
Reference seq: C |
Mutation seq: T |
AAchange: p.R1126* |
exon_skip_108215_SKCM_TCGA-EE-A2MR-06.png
|
exon_skip_111144_SKCM_TCGA-EE-A2MR-06.png
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exon_skip_124907_SKCM_TCGA-EE-A2MR-06.png
|
exon_skip_463685_SKCM_TCGA-EE-A2MR-06.png
|
exon_skip_8747_SKCM_TCGA-EE-A2MR-06.png
|
| Sample: TCGA-CK-5913-01 |
Cancer type: COAD |
ESID: exon_skip_108215 |
Skipped exon start: 75264283 |
Skipped exon end: 75266400 |
Mutation start: 75264441 |
Mutation end: 75264441 |
Mutation type: Frame_Shift_Del |
Reference seq: G |
Mutation seq: - |
AAchange: p.R814fs |
exon_skip_108215_COAD_TCGA-CK-5913-01.png
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exon_skip_152962_COAD_TCGA-CK-5913-01.png
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exon_skip_284290_COAD_TCGA-CK-5913-01.png
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exon_skip_304901_COAD_TCGA-CK-5913-01.png
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exon_skip_307695_COAD_TCGA-CK-5913-01.png
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exon_skip_346508_COAD_TCGA-CK-5913-01.png
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exon_skip_347690_COAD_TCGA-CK-5913-01.png
|
exon_skip_3490_COAD_TCGA-CK-5913-01.png
|
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
AN3CA_ENDOMETRIUM | 75264283 | 75266400 | 75265533 | 75265533 | Frame_Shift_Del | A | - | p.E1178fs |
HEC1_ENDOMETRIUM | 75264283 | 75266400 | 75265533 | 75265533 | Frame_Shift_Del | A | - | p.E1178fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75265720 | 75265720 | Frame_Shift_Del | G | - | p.E1240fs |
639V_URINARY_TRACT | 75276083 | 75276500 | 75276389 | 75276389 | Frame_Shift_Del | C | - | p.P906fs |
HEC59_ENDOMETRIUM | 75276083 | 75276500 | 75276413 | 75276413 | Frame_Shift_Del | C | - | p.P914fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75265723 | 75265724 | Frame_Shift_Ins | - | A | p.Y1242fs |
SNU1_STOMACH | 75264283 | 75266400 | 75265525 | 75265527 | In_Frame_Del | TGG | - | p.G1177del |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75264545 | 75264546 | In_Frame_Ins | - | AGCAGCAGCCTA | p.853_854insQQPK |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75276083 | 75276500 | 75276226 | 75276227 | In_Frame_Ins | - | CCT | p.850_850P>PP |
BB49EBV_MATCHED_NORMAL_TISSUE | 75245150 | 75245386 | 75245226 | 75245226 | Missense_Mutation | A | G | p.K317R |
BB49HNC_UPPER_AERODIGESTIVE_TRACT | 75245150 | 75245386 | 75245226 | 75245226 | Missense_Mutation | A | G | p.K317R |
CL40_LARGE_INTESTINE | 75245150 | 75245386 | 75245274 | 75245274 | Missense_Mutation | A | T | p.E333V |
CL40_LARGE_INTESTINE | 75245150 | 75245386 | 75245274 | 75245275 | Missense_Mutation | AA | TT | p.E333V |
CL40_LARGE_INTESTINE | 75245150 | 75245386 | 75245275 | 75245275 | Missense_Mutation | A | T | p.E333D |
CJM_SKIN | 75245150 | 75245386 | 75245295 | 75245295 | Missense_Mutation | G | C | p.S340T |
TIG3TD_FIBROBLAST | 75264283 | 75266400 | 75264371 | 75264371 | Missense_Mutation | G | A | p.D791N |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75264395 | 75264395 | Missense_Mutation | G | A | p.G799S |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75264395 | 75264395 | Missense_Mutation | G | A | p.G799S |
IGR1_SKIN | 75264283 | 75266400 | 75264617 | 75264617 | Missense_Mutation | C | G | p.Q873E |
TT_OESOPHAGUS | 75264283 | 75266400 | 75264695 | 75264695 | Missense_Mutation | A | G | p.N899D |
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75264744 | 75264744 | Missense_Mutation | C | T | p.S915L |
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75264801 | 75264801 | Missense_Mutation | A | G | p.Q934R |
KP2_PANCREAS | 75264283 | 75266400 | 75264836 | 75264836 | Missense_Mutation | C | T | p.P946S |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75264909 | 75264909 | Missense_Mutation | C | T | p.A970V |
UMUC3_URINARY_TRACT | 75264283 | 75266400 | 75264939 | 75264939 | Missense_Mutation | A | G | p.N980S |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75264941 | 75264941 | Missense_Mutation | G | C | p.D981H |
NCIH2081_LUNG | 75264283 | 75266400 | 75265134 | 75265134 | Missense_Mutation | T | G | p.I1045S |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 75264283 | 75266400 | 75265136 | 75265136 | Missense_Mutation | A | G | p.S1046G |
NCIH2342_LUNG | 75264283 | 75266400 | 75265377 | 75265377 | Missense_Mutation | G | A | p.R1126Q |
HOP62_LUNG | 75264283 | 75266400 | 75265507 | 75265507 | Missense_Mutation | C | G | p.F1169L |
WM793_SKIN | 75264283 | 75266400 | 75265650 | 75265650 | Missense_Mutation | G | A | p.R1217K |
MDAMB453_BREAST | 75264283 | 75266400 | 75265674 | 75265674 | Missense_Mutation | G | C | p.R1225T |
KMH2_THYROID | 75264283 | 75266400 | 75265674 | 75265674 | Missense_Mutation | G | A | p.R1225K |
NCIH1155_LUNG | 75264283 | 75266400 | 75265694 | 75265694 | Missense_Mutation | C | T | p.R1232C |
KYSE410_OESOPHAGUS | 75264283 | 75266400 | 75265738 | 75265738 | Missense_Mutation | C | G | p.D1246E |
DMS273_LUNG | 75264283 | 75266400 | 75265760 | 75265760 | Missense_Mutation | C | T | p.R1254W |
HCT116_LARGE_INTESTINE | 75264283 | 75266400 | 75265897 | 75265897 | Missense_Mutation | G | A | p.M1299I |
HEC251_ENDOMETRIUM | 75264283 | 75266400 | 75265933 | 75265933 | Missense_Mutation | T | G | p.D1311E |
NCIH1563_LUNG | 75264283 | 75266400 | 75265991 | 75265991 | Missense_Mutation | C | G | p.L1331V |
SNU1066_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75266001 | 75266001 | Missense_Mutation | T | C | p.L1334S |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75266074 | 75266074 | Missense_Mutation | G | C | p.E1358D |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266074 | 75266074 | Missense_Mutation | G | C | p.E1358D |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266074 | 75266074 | Missense_Mutation | G | C | p.E1358D |
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266074 | 75266074 | Missense_Mutation | G | C | p.E1358D |
SNU719_STOMACH | 75264283 | 75266400 | 75266088 | 75266088 | Missense_Mutation | G | A | p.R1363Q |
JHUEM1_ENDOMETRIUM | 75264283 | 75266400 | 75266096 | 75266096 | Missense_Mutation | C | T | p.R1366C |
HCC95_LUNG | 75264283 | 75266400 | 75266134 | 75266134 | Missense_Mutation | A | C | p.E1378D |
RT112_URINARY_TRACT | 75264283 | 75266400 | 75266160 | 75266160 | Missense_Mutation | G | A | p.R1387Q |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266235 | 75266235 | Missense_Mutation | G | A | p.R1412K |
BICR18_UPPER_AERODIGESTIVE_TRACT | 75264283 | 75266400 | 75266304 | 75266304 | Missense_Mutation | G | A | p.S1435N |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266304 | 75266304 | Missense_Mutation | G | A | p.S1435N |
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75264283 | 75266400 | 75266304 | 75266304 | Missense_Mutation | G | A | p.S1435N |
WM1799_SKIN | 75264283 | 75266400 | 75266342 | 75266342 | Missense_Mutation | C | T | p.L1448F |
GP5D_LARGE_INTESTINE | 75264283 | 75266400 | 75266366 | 75266366 | Missense_Mutation | A | G | p.I1456V |
DOV13_OVARY | 75276083 | 75276500 | 75276089 | 75276089 | Missense_Mutation | G | T | p.G804W |
HS294T_SKIN | 75276083 | 75276500 | 75276089 | 75276089 | Missense_Mutation | G | T | p.G804W |
CW2_LARGE_INTESTINE | 75276083 | 75276500 | 75276095 | 75276095 | Missense_Mutation | T | C | p.Y806H |
NCIH1373_LUNG | 75276083 | 75276500 | 75276111 | 75276111 | Missense_Mutation | C | T | p.P811L |
EN_ENDOMETRIUM | 75276083 | 75276500 | 75276285 | 75276285 | Missense_Mutation | A | T | p.D869V |
SNU81_LARGE_INTESTINE | 75276083 | 75276500 | 75276294 | 75276294 | Missense_Mutation | C | A | p.S872Y |
HEC59_ENDOMETRIUM | 75276083 | 75276500 | 75276345 | 75276345 | Missense_Mutation | T | C | p.F889S |
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75276083 | 75276500 | 75276416 | 75276416 | Missense_Mutation | C | T | p.P913S |
SNU1197_LARGE_INTESTINE | 75283274 | 75283393 | 75283334 | 75283334 | Missense_Mutation | A | G | p.I1170V |
HCC1395_BREAST | 75284934 | 75285017 | 75284989 | 75284989 | Missense_Mutation | C | T | p.S1295F |
HS274T_BREAST | 75295916 | 75296046 | 75295986 | 75295986 | Missense_Mutation | G | T | p.E1372D |
MFE319_ENDOMETRIUM | 75264283 | 75266400 | 75264986 | 75264986 | Nonsense_Mutation | C | T | p.Q996* |
NCIH2073_LUNG | 75264283 | 75266400 | 75265259 | 75265259 | Nonsense_Mutation | G | T | p.G1087* |
NCIH1993_LUNG | 75264283 | 75266400 | 75265259 | 75265259 | Nonsense_Mutation | G | T | p.G1087* |
JHUEM7_ENDOMETRIUM | 75264283 | 75266400 | 75265442 | 75265442 | Nonsense_Mutation | C | T | p.R1148* |
NCIH1993_LUNG | 75295916 | 75296046 | 75296045 | 75296045 | Splice_Site | G | A | p.R1392K |