Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_292404 | 17 | 62232306:62232327:62238160:62238293:62248459:62248559 | 62238160:62238293 | ENSG00000136478.3 | ENST00000258991.3,ENST00000583097.1,ENST00000584379.1 |
exon_skip_292406 | 17 | 62248459:62248559:62254684:62254831:62265527:62265775 | 62254684:62254831 | ENSG00000136478.3 | ENST00000583501.1,ENST00000258991.3,ENST00000583097.1,ENST00000584379.1,ENST00000577489.1 |
exon_skip_292407 | 17 | 62254684:62254831:62265527:62265775:62270918:62271249 | 62265527:62265775 | ENSG00000136478.3 | ENST00000583501.1,ENST00000583097.1,ENST00000584379.1 |
exon_skip_292409 | 17 | 62254684:62254831:62265527:62265796:62270918:62271249 | 62265527:62265796 | ENSG00000136478.3 | ENST00000258991.3 |
exon_skip_292410 | 17 | 62272254:62272455:62289933:62291602:62340527:62340587 | 62289933:62291602 | ENSG00000136478.3 | ENST00000584379.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_292404 | 17 | 62232306:62232327:62238160:62238293:62248459:62248559 | 62238160:62238293 | ENSG00000136478.3 | ENST00000258991.3,ENST00000583097.1,ENST00000584379.1 |
exon_skip_292406 | 17 | 62248459:62248559:62254684:62254831:62265527:62265775 | 62254684:62254831 | ENSG00000136478.3 | ENST00000258991.3,ENST00000583097.1,ENST00000584379.1,ENST00000583501.1,ENST00000577489.1 |
exon_skip_292407 | 17 | 62254684:62254831:62265527:62265775:62270918:62271249 | 62265527:62265775 | ENSG00000136478.3 | ENST00000583097.1,ENST00000584379.1,ENST00000583501.1 |
exon_skip_292409 | 17 | 62254684:62254831:62265527:62265796:62270918:62271249 | 62265527:62265796 | ENSG00000136478.3 | ENST00000258991.3 |
exon_skip_292410 | 17 | 62272254:62272455:62289933:62291602:62340527:62340587 | 62289933:62291602 | ENSG00000136478.3 | ENST00000584379.1 |
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 |
Q8IWB9 | 808 | 857 | 1 | 1127 | Chain | ID=PRO_0000244479;Note=Testis-expressed protein 2 |
Q8IWB9 | 808 | 857 | 1 | 1127 | Chain | ID=PRO_0000244479;Note=Testis-expressed protein 2 |
Q8IWB9 | 808 | 857 | 816 | 821 | Compositional bias | Note=Poly-Glu |
Q8IWB9 | 808 | 857 | 816 | 821 | Compositional bias | Note=Poly-Glu |
Q8IWB9 | 808 | 857 | 816 | 1101 | Domain | Note=SMP-LTD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01194 |
Q8IWB9 | 808 | 857 | 816 | 1101 | Domain | Note=SMP-LTD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01194 |
Q8IWB9 | 808 | 857 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZPJ0 |
Q8IWB9 | 808 | 857 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZPJ0 |
Q8IWB9 | 808 | 857 | 835 | 835 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8IWB9 | 808 | 857 | 835 | 835 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
Q8IWB9 | 808 | 857 | 1 | 1127 | Chain | ID=PRO_0000244479;Note=Testis-expressed protein 2 |
Q8IWB9 | 808 | 857 | 1 | 1127 | Chain | ID=PRO_0000244479;Note=Testis-expressed protein 2 |
Q8IWB9 | 808 | 857 | 816 | 821 | Compositional bias | Note=Poly-Glu |
Q8IWB9 | 808 | 857 | 816 | 821 | Compositional bias | Note=Poly-Glu |
Q8IWB9 | 808 | 857 | 816 | 1101 | Domain | Note=SMP-LTD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01194 |
Q8IWB9 | 808 | 857 | 816 | 1101 | Domain | Note=SMP-LTD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01194 |
Q8IWB9 | 808 | 857 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZPJ0 |
Q8IWB9 | 808 | 857 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZPJ0 |
Q8IWB9 | 808 | 857 | 835 | 835 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8IWB9 | 808 | 857 | 835 | 835 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
SISO_CERVIX | 62289934 | 62291602 | 62290281 | 62290281 | Frame_Shift_Del | C | - | p.E433fs |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290281 | 62290281 | Frame_Shift_Del | C | - | p.E433fs |
CW2_LARGE_INTESTINE | 62289934 | 62291602 | 62290744 | 62290744 | Frame_Shift_Del | A | - | p.F278fs |
HMEL_BREAST | 62289934 | 62291602 | 62291415 | 62291416 | Frame_Shift_Del | AC | - | p.Y55fs |
HEC265_ENDOMETRIUM | 62289934 | 62291602 | 62291227 | 62291228 | Frame_Shift_Ins | - | A | p.L117fs |
HEC108_ENDOMETRIUM | 62289934 | 62291602 | 62291074 | 62291076 | In_Frame_Del | AGA | - | p.S168del |
NCIH1694_LUNG | 62254685 | 62254831 | 62254808 | 62254808 | Missense_Mutation | C | G | p.E816D |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62254685 | 62254831 | 62254820 | 62254821 | Missense_Mutation | AA | GG | p.V812A |
HEC6_ENDOMETRIUM | 62265528 | 62265796 | 62265556 | 62265556 | Missense_Mutation | G | A | p.A799V |
HEC6_ENDOMETRIUM | 62265528 | 62265775 | 62265556 | 62265556 | Missense_Mutation | G | A | p.A799V |
MEWO_SKIN | 62265528 | 62265796 | 62265580 | 62265580 | Missense_Mutation | G | A | p.P791L |
MEWO_SKIN | 62265528 | 62265775 | 62265580 | 62265580 | Missense_Mutation | G | A | p.P791L |
NCIBL1395_MATCHED_NORMAL_TISSUE | 62265528 | 62265796 | 62265611 | 62265611 | Missense_Mutation | C | A | p.G781C |
NCIBL1395_MATCHED_NORMAL_TISSUE | 62265528 | 62265775 | 62265611 | 62265611 | Missense_Mutation | C | A | p.G781C |
NCIH1395_LUNG | 62265528 | 62265796 | 62265611 | 62265611 | Missense_Mutation | C | A | p.G781C |
NCIH1395_LUNG | 62265528 | 62265775 | 62265611 | 62265611 | Missense_Mutation | C | A | p.G781C |
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62265528 | 62265796 | 62265646 | 62265646 | Missense_Mutation | C | G | p.R769P |
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62265528 | 62265775 | 62265646 | 62265646 | Missense_Mutation | C | G | p.R769P |
AN3CA_ENDOMETRIUM | 62265528 | 62265796 | 62265685 | 62265685 | Missense_Mutation | A | G | p.M756T |
AN3CA_ENDOMETRIUM | 62265528 | 62265775 | 62265685 | 62265685 | Missense_Mutation | A | G | p.M756T |
SNU1077_ENDOMETRIUM | 62265528 | 62265796 | 62265692 | 62265692 | Missense_Mutation | C | G | p.E754Q |
SNU1077_ENDOMETRIUM | 62265528 | 62265775 | 62265692 | 62265692 | Missense_Mutation | C | G | p.E754Q |
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62289981 | 62289981 | Missense_Mutation | G | T | p.H533N |
FADU_UPPER_AERODIGESTIVE_TRACT | 62289934 | 62291602 | 62290013 | 62290013 | Missense_Mutation | T | C | p.H522R |
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290014 | 62290014 | Missense_Mutation | G | A | p.H522Y |
TGBC11TKB_STOMACH | 62289934 | 62291602 | 62290016 | 62290016 | Missense_Mutation | G | A | p.A521V |
MDAMB453_BREAST | 62289934 | 62291602 | 62290154 | 62290154 | Missense_Mutation | G | A | p.T475M |
HEC108_ENDOMETRIUM | 62289934 | 62291602 | 62290212 | 62290212 | Missense_Mutation | G | T | p.L456I |
HEC6_ENDOMETRIUM | 62289934 | 62291602 | 62290250 | 62290250 | Missense_Mutation | G | A | p.P443L |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290280 | 62290280 | Missense_Mutation | T | C | p.E433G |
NCIH510_LUNG | 62289934 | 62291602 | 62290283 | 62290283 | Missense_Mutation | C | A | p.G432V |
GP5D_LARGE_INTESTINE | 62289934 | 62291602 | 62290292 | 62290292 | Missense_Mutation | T | A | p.E429V |
NCIH2286_LUNG | 62289934 | 62291602 | 62290377 | 62290377 | Missense_Mutation | C | A | p.V401F |
KNS60_CENTRAL_NERVOUS_SYSTEM | 62289934 | 62291602 | 62290467 | 62290467 | Missense_Mutation | T | G | p.K371Q |
NCIH1623_LUNG | 62289934 | 62291602 | 62290478 | 62290478 | Missense_Mutation | C | G | p.S367T |
HS706T_BONE | 62289934 | 62291602 | 62290638 | 62290638 | Missense_Mutation | C | T | p.G314S |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290700 | 62290700 | Missense_Mutation | C | T | p.R293H |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290754 | 62290754 | Missense_Mutation | C | T | p.R275H |
SNU899_UPPER_AERODIGESTIVE_TRACT | 62289934 | 62291602 | 62290791 | 62290791 | Missense_Mutation | C | A | p.A263S |
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62290812 | 62290812 | Missense_Mutation | T | C | p.T256A |
SARC9371_BONE | 62289934 | 62291602 | 62290821 | 62290821 | Missense_Mutation | G | A | p.P253S |
SNUC5_LARGE_INTESTINE | 62289934 | 62291602 | 62290899 | 62290899 | Missense_Mutation | G | A | p.R227W |
BICR56_UPPER_AERODIGESTIVE_TRACT | 62289934 | 62291602 | 62290939 | 62290939 | Missense_Mutation | C | G | p.L213F |
SKUT1_SOFT_TISSUE | 62289934 | 62291602 | 62290956 | 62290956 | Missense_Mutation | C | T | p.A208T |
LNCAPCLONEFGC_PROSTATE | 62289934 | 62291602 | 62290982 | 62290982 | Missense_Mutation | A | G | p.V199A |
OC316_OVARY | 62289934 | 62291602 | 62291139 | 62291139 | Missense_Mutation | A | T | p.S147T |
OC314_OVARY | 62289934 | 62291602 | 62291139 | 62291139 | Missense_Mutation | A | T | p.S147T |
HS281T_FIBROBLAST | 62289934 | 62291602 | 62291156 | 62291156 | Missense_Mutation | G | A | p.S141L |
HCC2998_LARGE_INTESTINE | 62289934 | 62291602 | 62291156 | 62291156 | Missense_Mutation | G | A | p.S141L |
SARC9371_BONE | 62289934 | 62291602 | 62291159 | 62291159 | Missense_Mutation | G | A | p.S140L |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62291187 | 62291187 | Missense_Mutation | G | A | p.P131S |
KPNYS_AUTONOMIC_GANGLIA | 62289934 | 62291602 | 62291248 | 62291249 | Missense_Mutation | GG | AA | p.S110F |
DMS53_LUNG | 62289934 | 62291602 | 62291294 | 62291295 | Missense_Mutation | GC | CT | p.A95R |
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62289934 | 62291602 | 62291306 | 62291306 | Missense_Mutation | G | A | p.S91L |
T98G_CENTRAL_NERVOUS_SYSTEM | 62289934 | 62291602 | 62291322 | 62291322 | Missense_Mutation | C | T | p.A86T |
HEC151_ENDOMETRIUM | 62289934 | 62291602 | 62291475 | 62291475 | Missense_Mutation | C | T | p.A35T |
NCIH2731_PLEURA | 62289934 | 62291602 | 62291475 | 62291475 | Missense_Mutation | C | T | p.A35T |
HEC108_ENDOMETRIUM | 62289934 | 62291602 | 62291540 | 62291540 | Missense_Mutation | G | A | p.T13I |
SNU1040_LARGE_INTESTINE | 62289934 | 62291602 | 62290704 | 62290704 | Nonsense_Mutation | G | A | p.R292* |
VMRCRCW_KIDNEY | 62254685 | 62254831 | 62254686 | 62254686 | Splice_Site | T | A | p.K857M |