Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_81810 | 12 | 49717386:49717535:49717627:49717729:49719283:49719288 | 49717627:49717729 | ENSG00000135451.8 | ENST00000546776.1 |
exon_skip_81811 | 12 | 49717386:49717535:49717627:49717820:49717937:49718175 | 49717627:49717820 | ENSG00000135451.8 | ENST00000380327.5 |
exon_skip_81813 | 12 | 49717386:49717535:49717627:49717820:49718013:49718199 | 49717627:49717820 | ENSG00000135451.8 | ENST00000548311.1 |
exon_skip_81814 | 12 | 49717386:49717535:49717627:49717820:49719283:49719288 | 49717627:49717820 | ENSG00000135451.8 | ENST00000551567.1,ENST00000547807.1,ENST00000551245.1,ENST00000551192.1,ENST00000257909.3 |
exon_skip_81828 | 12 | 49717386:49717535:49719283:49719441:49719529:49719667 | 49719283:49719441 | ENSG00000135451.8 | ENST00000546735.1 |
exon_skip_81834 | 12 | 49719529:49719667:49719858:49719941:49720450:49720503 | 49719858:49719941 | ENSG00000135451.8 | ENST00000546776.1,ENST00000547807.1,ENST00000551245.1,ENST00000550346.1,ENST00000551192.1,ENST00000546735.1,ENST00000257909.3,ENST00000548817.1 |
exon_skip_81835 | 12 | 49719858:49719941:49720450:49720503:49721009:49721110 | 49720450:49720503 | ENSG00000135451.8 | ENST00000547807.1 |
exon_skip_81836 | 12 | 49720991:49721113:49722709:49722838:49722943:49723027 | 49722709:49722838 | ENSG00000135451.8 | ENST00000547923.1,ENST00000551245.1,ENST00000551192.1,ENST00000549891.1,ENST00000546735.1,ENST00000257909.3 |
exon_skip_81844 | 12 | 49723177:49723237:49723639:49723774:49723927:49724257 | 49723639:49723774 | ENSG00000135451.8 | ENST00000547923.1,ENST00000551245.1,ENST00000257909.3 |
exon_skip_81866 | 12 | 49723639:49723774:49723927:49724356:49724443:49724726 | 49723927:49724356 | ENSG00000135451.8 | ENST00000547923.1 |
exon_skip_81872 | 12 | 49723645:49723774:49723927:49724726:49724996:49725190 | 49723927:49724726 | ENSG00000135451.8 | ENST00000257909.3 |
exon_skip_81885 | 12 | 49724344:49724356:49724443:49724726:49724996:49725190 | 49724443:49724726 | ENSG00000135451.8 | ENST00000547923.1 |
exon_skip_81890 | 12 | 49724443:49724726:49724996:49725190:49725355:49725453 | 49724996:49725190 | ENSG00000135451.8 | ENST00000547923.1,ENST00000257909.3 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_81810 | 12 | 49717386:49717535:49717627:49717729:49719283:49719288 | 49717627:49717729 | ENSG00000135451.8 | ENST00000546776.1 |
exon_skip_81813 | 12 | 49717386:49717535:49717627:49717820:49718013:49718199 | 49717627:49717820 | ENSG00000135451.8 | ENST00000548311.1 |
exon_skip_81814 | 12 | 49717386:49717535:49717627:49717820:49719283:49719288 | 49717627:49717820 | ENSG00000135451.8 | ENST00000551245.1,ENST00000257909.3,ENST00000551192.1,ENST00000547807.1,ENST00000551567.1 |
exon_skip_81828 | 12 | 49717386:49717535:49719283:49719441:49719529:49719667 | 49719283:49719441 | ENSG00000135451.8 | ENST00000546735.1 |
exon_skip_81834 | 12 | 49719529:49719667:49719858:49719941:49720450:49720503 | 49719858:49719941 | ENSG00000135451.8 | ENST00000551245.1,ENST00000550346.1,ENST00000546735.1,ENST00000546776.1,ENST00000257909.3,ENST00000551192.1,ENST00000547807.1,ENST00000548817.1 |
exon_skip_81835 | 12 | 49719858:49719941:49720450:49720503:49721009:49721110 | 49720450:49720503 | ENSG00000135451.8 | ENST00000547807.1 |
exon_skip_81836 | 12 | 49720991:49721113:49722709:49722838:49722943:49723027 | 49722709:49722838 | ENSG00000135451.8 | ENST00000551245.1,ENST00000549891.1,ENST00000546735.1,ENST00000257909.3,ENST00000551192.1,ENST00000547923.1 |
exon_skip_81844 | 12 | 49723177:49723237:49723639:49723774:49723927:49724257 | 49723639:49723774 | ENSG00000135451.8 | ENST00000551245.1,ENST00000257909.3,ENST00000547923.1 |
exon_skip_81872 | 12 | 49723645:49723774:49723927:49724726:49724996:49725190 | 49723927:49724726 | ENSG00000135451.8 | ENST00000257909.3 |
exon_skip_81885 | 12 | 49724344:49724356:49724443:49724726:49724996:49725190 | 49724443:49724726 | ENSG00000135451.8 | ENST00000547923.1 |
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 |
Q12815 | 297 | 340 | 113 | 778 | Alternative sequence | ID=VSP_055063;Note=In isoform 3. EAPGTIEFVADPAALATILSGEGVKSCHLGRQPSLAKRVLVRGSQGGTTQRVQGVRASAYLAPRTPTHRLDPARASCFSRLEGPGPRGRTLCPQRLQALISPSGPSFHPSTRPSFQELRRETAGSSRTSVSQASGLLLETPVQPAFSLPKGEREVVTHSDEGGVASLGLAQRVPLRENREMSHTRDSHDSHLMPSPAPVAQPLPGHVVPCPSPFGRAQRVPS |
Q12815 | 297 | 340 | 145 | 778 | Alternative sequence | ID=VSP_042821;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q12815 | 297 | 340 | 1 | 778 | Chain | ID=PRO_0000065636;Note=Tastin |
Q12815 | 297 | 340 | 324 | 324 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q12815 | 297 | 340 | 334 | 334 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,E |
Q12815 | 388 | 433 | 113 | 778 | Alternative sequence | ID=VSP_055063;Note=In isoform 3. EAPGTIEFVADPAALATILSGEGVKSCHLGRQPSLAKRVLVRGSQGGTTQRVQGVRASAYLAPRTPTHRLDPARASCFSRLEGPGPRGRTLCPQRLQALISPSGPSFHPSTRPSFQELRRETAGSSRTSVSQASGLLLETPVQPAFSLPKGEREVVTHSDEGGVASLGLAQRVPLRENREMSHTRDSHDSHLMPSPAPVAQPLPGHVVPCPSPFGRAQRVPS |
Q12815 | 388 | 433 | 145 | 778 | Alternative sequence | ID=VSP_042821;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q12815 | 388 | 433 | 1 | 778 | Chain | ID=PRO_0000065636;Note=Tastin |
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 |
Q12815 | 297 | 340 | 113 | 778 | Alternative sequence | ID=VSP_055063;Note=In isoform 3. EAPGTIEFVADPAALATILSGEGVKSCHLGRQPSLAKRVLVRGSQGGTTQRVQGVRASAYLAPRTPTHRLDPARASCFSRLEGPGPRGRTLCPQRLQALISPSGPSFHPSTRPSFQELRRETAGSSRTSVSQASGLLLETPVQPAFSLPKGEREVVTHSDEGGVASLGLAQRVPLRENREMSHTRDSHDSHLMPSPAPVAQPLPGHVVPCPSPFGRAQRVPS |
Q12815 | 297 | 340 | 145 | 778 | Alternative sequence | ID=VSP_042821;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q12815 | 297 | 340 | 1 | 778 | Chain | ID=PRO_0000065636;Note=Tastin |
Q12815 | 297 | 340 | 324 | 324 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q12815 | 297 | 340 | 334 | 334 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,E |
Q12815 | 388 | 433 | 113 | 778 | Alternative sequence | ID=VSP_055063;Note=In isoform 3. EAPGTIEFVADPAALATILSGEGVKSCHLGRQPSLAKRVLVRGSQGGTTQRVQGVRASAYLAPRTPTHRLDPARASCFSRLEGPGPRGRTLCPQRLQALISPSGPSFHPSTRPSFQELRRETAGSSRTSVSQASGLLLETPVQPAFSLPKGEREVVTHSDEGGVASLGLAQRVPLRENREMSHTRDSHDSHLMPSPAPVAQPLPGHVVPCPSPFGRAQRVPS |
Q12815 | 388 | 433 | 145 | 778 | Alternative sequence | ID=VSP_042821;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q12815 | 388 | 433 | 1 | 778 | Chain | ID=PRO_0000065636;Note=Tastin |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49724444 | 49724726 | 49724677 | 49724677 | Frame_Shift_Del | C | - | p.S683fs |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49723928 | 49724726 | 49724677 | 49724677 | Frame_Shift_Del | C | - | p.S683fs |
NCIH292_LUNG | 49723928 | 49724726 | 49724076 | 49724084 | In_Frame_Del | AGCATAACT | - | p.483_486EHNS>A |
NCIH292_LUNG | 49723928 | 49724356 | 49724076 | 49724084 | In_Frame_Del | AGCATAACT | - | p.483_486EHNS>A |
TUHR4TKB_KIDNEY | 49717628 | 49717820 | 49717665 | 49717665 | Missense_Mutation | C | A | p.P61H |
TUHR4TKB_KIDNEY | 49717628 | 49717729 | 49717665 | 49717665 | Missense_Mutation | C | A | p.P61H |
SARC9371_BONE | 49717628 | 49717820 | 49717754 | 49717754 | Missense_Mutation | C | T | p.P91S |
KM12_LARGE_INTESTINE | 49717628 | 49717820 | 49717797 | 49717797 | Missense_Mutation | G | A | p.G105E |
HCC1599_MATCHED_NORMAL_TISSUE | 49719284 | 49719441 | 49719353 | 49719353 | Missense_Mutation | T | A | p.V136E |
SARC9371_BONE | 49719859 | 49719941 | 49719895 | 49719895 | Missense_Mutation | C | T | p.R224C |
MFE319_ENDOMETRIUM | 49722710 | 49722838 | 49722714 | 49722714 | Missense_Mutation | G | A | p.S299N |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49722710 | 49722838 | 49722734 | 49722734 | Missense_Mutation | C | T | p.P306S |
22RV1_PROSTATE | 49722710 | 49722838 | 49722747 | 49722747 | Missense_Mutation | C | A | p.P310H |
VMRCLCD_LUNG | 49722710 | 49722838 | 49722752 | 49722752 | Missense_Mutation | G | A | p.A312T |
CJM_SKIN | 49723640 | 49723774 | 49723645 | 49723645 | Missense_Mutation | G | C | p.Q390H |
SNU1040_LARGE_INTESTINE | 49723640 | 49723774 | 49723679 | 49723679 | Missense_Mutation | A | G | p.I402V |
CA922_UPPER_AERODIGESTIVE_TRACT | 49723640 | 49723774 | 49723683 | 49723683 | Missense_Mutation | G | C | p.R403T |
HEC1A_ENDOMETRIUM | 49723640 | 49723774 | 49723731 | 49723731 | Missense_Mutation | C | A | p.P419H |
HEC1_ENDOMETRIUM | 49723640 | 49723774 | 49723731 | 49723731 | Missense_Mutation | C | A | p.P419H |
HEC1B_ENDOMETRIUM | 49723640 | 49723774 | 49723731 | 49723731 | Missense_Mutation | C | A | p.P419H |
NCIH358_LUNG | 49723928 | 49724726 | 49724018 | 49724018 | Missense_Mutation | G | T | p.D464Y |
NCIH358_LUNG | 49723928 | 49724356 | 49724018 | 49724018 | Missense_Mutation | G | T | p.D464Y |
NBTU110_AUTONOMIC_GANGLIA | 49723928 | 49724726 | 49724027 | 49724027 | Missense_Mutation | G | A | p.E467K |
NBTU110_AUTONOMIC_GANGLIA | 49723928 | 49724356 | 49724027 | 49724027 | Missense_Mutation | G | A | p.E467K |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49723928 | 49724726 | 49724078 | 49724078 | Missense_Mutation | C | T | p.H484Y |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49723928 | 49724356 | 49724078 | 49724078 | Missense_Mutation | C | T | p.H484Y |
MDAMB453_BREAST | 49723928 | 49724726 | 49724157 | 49724157 | Missense_Mutation | G | A | p.G510E |
MDAMB453_BREAST | 49723928 | 49724356 | 49724157 | 49724157 | Missense_Mutation | G | A | p.G510E |
LN405_CENTRAL_NERVOUS_SYSTEM | 49723928 | 49724726 | 49724157 | 49724157 | Missense_Mutation | G | A | p.G510E |
LN405_CENTRAL_NERVOUS_SYSTEM | 49723928 | 49724356 | 49724157 | 49724157 | Missense_Mutation | G | A | p.G510E |
HCT15_LARGE_INTESTINE | 49723928 | 49724726 | 49724167 | 49724167 | Missense_Mutation | G | T | p.Q513H |
HCT15_LARGE_INTESTINE | 49723928 | 49724356 | 49724167 | 49724167 | Missense_Mutation | G | T | p.Q513H |
ES6_BONE | 49723928 | 49724726 | 49724169 | 49724169 | Missense_Mutation | C | T | p.P514L |
ES6_BONE | 49723928 | 49724356 | 49724169 | 49724169 | Missense_Mutation | C | T | p.P514L |
G361_SKIN | 49723928 | 49724726 | 49724189 | 49724189 | Missense_Mutation | G | A | p.G521R |
G361_SKIN | 49723928 | 49724356 | 49724189 | 49724189 | Missense_Mutation | G | A | p.G521R |
SNU1040_LARGE_INTESTINE | 49723928 | 49724726 | 49724213 | 49724213 | Missense_Mutation | A | C | p.S529R |
SNU1040_LARGE_INTESTINE | 49723928 | 49724356 | 49724213 | 49724213 | Missense_Mutation | A | C | p.S529R |
TCCSUP_URINARY_TRACT | 49723928 | 49724726 | 49724339 | 49724339 | Missense_Mutation | C | T | p.R571C |
TCCSUP_URINARY_TRACT | 49723928 | 49724356 | 49724339 | 49724339 | Missense_Mutation | C | T | p.R571C |
NCIH1155_LUNG | 49723928 | 49724726 | 49724379 | 49724379 | Missense_Mutation | C | T | p.A584V |
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49723928 | 49724726 | 49724396 | 49724396 | Missense_Mutation | G | C | p.E590Q |
HCC2998_LARGE_INTESTINE | 49723928 | 49724726 | 49724396 | 49724396 | Missense_Mutation | G | A | p.E590K |
SNU16_STOMACH | 49723928 | 49724726 | 49724403 | 49724403 | Missense_Mutation | A | G | p.Y592C |
RKN_SOFT_TISSUE | 49723928 | 49724726 | 49724412 | 49724412 | Missense_Mutation | T | C | p.I595T |
HCC1428_BREAST | 49723928 | 49724726 | 49724412 | 49724412 | Missense_Mutation | T | G | p.I595S |
DU145_PROSTATE | 49723928 | 49724726 | 49724424 | 49724424 | Missense_Mutation | T | C | p.I599T |
KP4_PANCREAS | 49724444 | 49724726 | 49724439 | 49724439 | Missense_Mutation | G | C | p.R604P |
KP4_PANCREAS | 49723928 | 49724726 | 49724439 | 49724439 | Missense_Mutation | G | C | p.R604P |
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49724444 | 49724726 | 49724439 | 49724439 | Missense_Mutation | G | A | p.R604H |
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49723928 | 49724726 | 49724439 | 49724439 | Missense_Mutation | G | A | p.R604H |
NCIH513_PLEURA | 49724444 | 49724726 | 49724528 | 49724528 | Missense_Mutation | G | T | p.G634W |
NCIH513_PLEURA | 49723928 | 49724726 | 49724528 | 49724528 | Missense_Mutation | G | T | p.G634W |
SLR26_KIDNEY | 49724444 | 49724726 | 49724540 | 49724540 | Missense_Mutation | A | G | p.R638G |
SLR26_KIDNEY | 49723928 | 49724726 | 49724540 | 49724540 | Missense_Mutation | A | G | p.R638G |
MZ7MEL_SKIN | 49724444 | 49724726 | 49724693 | 49724693 | Missense_Mutation | C | T | p.L689F |
MZ7MEL_SKIN | 49723928 | 49724726 | 49724693 | 49724693 | Missense_Mutation | C | T | p.L689F |
SNGM_ENDOMETRIUM | 49724997 | 49725190 | 49725021 | 49725021 | Missense_Mutation | C | T | p.T708I |
LS513_LARGE_INTESTINE | 49724997 | 49725190 | 49725059 | 49725059 | Missense_Mutation | G | A | p.A721T |
HCC1588_LUNG | 49724997 | 49725190 | 49725059 | 49725059 | Missense_Mutation | G | A | p.A721T |
TTC642_SOFT_TISSUE | 49724997 | 49725190 | 49725059 | 49725059 | Missense_Mutation | G | A | p.A721T |
HSC3_UPPER_AERODIGESTIVE_TRACT | 49724997 | 49725190 | 49725092 | 49725092 | Missense_Mutation | G | A | p.D732N |
TOV21G_OVARY | 49724997 | 49725190 | 49725156 | 49725156 | Missense_Mutation | C | A | p.P753H |
HEC265_ENDOMETRIUM | 49724997 | 49725190 | 49725164 | 49725164 | Missense_Mutation | A | G | p.T756A |