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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for GCC2 |
 Gene summary |
| Gene information | Gene symbol | GCC2 | Gene ID | 9648 |
| Gene name | GRIP and coiled-coil domain containing 2 | |
| Synonyms | GCC185|RANBP2L4|REN53 | |
| Cytomap | 2q12.3 | |
| Type of gene | protein-coding | |
| Description | GRIP and coiled-coil domain-containing protein 2185 kDa Golgi coiled-coil proteinCLL-associated antigen KW-11CTCL tumor antigen se1-1GCC protein, 185-kDGolgi coiled-coil protein GCC185Ran-binding protein 2-like 4renal carcinoma antigen NY-REN-53 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IWJ2 | |
| Context | PubMed: GCC2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for GCC2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for GCC2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GCC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328482 | 2 | 109066088:109066145:109067483:109067568:109068854:109068922 | 109067483:109067568 | ENSG00000135968.15 | ENST00000409821.1,ENST00000309863.6 |
| exon_skip_328483 | 2 | 109066088:109066145:109068854:109068922:109085435:109085540 | 109068854:109068922 | ENSG00000135968.15 | ENST00000482325.1 |
| exon_skip_328484 | 2 | 109068854:109068922:109079043:109079141:109085435:109085540 | 109079043:109079141 | ENSG00000135968.15 | ENST00000478207.1 |
| exon_skip_328488 | 2 | 109085435:109085540:109086106:109088572:109089282:109089355 | 109086106:109088572 | ENSG00000135968.15 | ENST00000482325.1,ENST00000409896.1,ENST00000309863.6 |
| exon_skip_328493 | 2 | 109088300:109088572:109089282:109089355:109091990:109092091 | 109089282:109089355 | ENSG00000135968.15 | ENST00000482325.1,ENST00000309863.6 |
| exon_skip_328497 | 2 | 109098165:109098272:109098742:109098907:109099517:109099612 | 109098742:109098907 | ENSG00000135968.15 | ENST00000482325.1,ENST00000393321.2,ENST00000309863.6,ENST00000447558.1 |
| exon_skip_328498 | 2 | 109098742:109098907:109099517:109099622:109100604:109100767 | 109099517:109099622 | ENSG00000135968.15 | ENST00000482325.1,ENST00000393321.2,ENST00000309863.6 |
| exon_skip_328500 | 2 | 109102286:109102364:109102890:109103104:109104154:109104276 | 109102890:109103104 | ENSG00000135968.15 | ENST00000393321.2 |
| exon_skip_328502 | 2 | 109102286:109102364:109102966:109103104:109104154:109104276 | 109102966:109103104 | ENSG00000135968.15 | ENST00000482325.1,ENST00000309863.6 |
| exon_skip_328504 | 2 | 109102966:109103104:109104154:109104276:109106293:109106470 | 109104154:109104276 | ENSG00000135968.15 | ENST00000482325.1,ENST00000393321.2,ENST00000309863.6 |
| exon_skip_328506 | 2 | 109113425:109113565:109116008:109116210:109124015:109125853 | 109116008:109116210 | ENSG00000135968.15 | ENST00000482325.1,ENST00000480863.1,ENST00000309863.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GCC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328482 | 2 | 109066088:109066145:109067483:109067568:109068854:109068922 | 109067483:109067568 | ENSG00000135968.15 | ENST00000309863.6,ENST00000409821.1 |
| exon_skip_328483 | 2 | 109066088:109066145:109068854:109068922:109085435:109085540 | 109068854:109068922 | ENSG00000135968.15 | ENST00000482325.1 |
| exon_skip_328484 | 2 | 109068854:109068922:109079043:109079141:109085435:109085540 | 109079043:109079141 | ENSG00000135968.15 | ENST00000478207.1 |
| exon_skip_328488 | 2 | 109085435:109085540:109086106:109088572:109089282:109089355 | 109086106:109088572 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1,ENST00000409896.1 |
| exon_skip_328493 | 2 | 109088300:109088572:109089282:109089355:109091990:109092091 | 109089282:109089355 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1 |
| exon_skip_328497 | 2 | 109098165:109098272:109098742:109098907:109099517:109099612 | 109098742:109098907 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1,ENST00000447558.1,ENST00000393321.2 |
| exon_skip_328498 | 2 | 109098742:109098907:109099517:109099622:109100604:109100767 | 109099517:109099622 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1,ENST00000393321.2 |
| exon_skip_328500 | 2 | 109102286:109102364:109102890:109103104:109104154:109104276 | 109102890:109103104 | ENSG00000135968.15 | ENST00000393321.2 |
| exon_skip_328502 | 2 | 109102286:109102364:109102966:109103104:109104154:109104276 | 109102966:109103104 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1 |
| exon_skip_328504 | 2 | 109102966:109103104:109104154:109104276:109106293:109106470 | 109104154:109104276 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1,ENST00000393321.2 |
| exon_skip_328506 | 2 | 109113425:109113565:109116008:109116210:109124015:109125853 | 109116008:109116210 | ENSG00000135968.15 | ENST00000309863.6,ENST00000482325.1,ENST00000480863.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GCC2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000309863 | 109067483 | 109067568 | Frame-shift |
| ENST00000309863 | 109089282 | 109089355 | Frame-shift |
| ENST00000309863 | 109104154 | 109104276 | Frame-shift |
| ENST00000309863 | 109116008 | 109116210 | Frame-shift |
| ENST00000309863 | 109086106 | 109088572 | In-frame |
| ENST00000309863 | 109098742 | 109098907 | In-frame |
| ENST00000309863 | 109099517 | 109099622 | In-frame |
| ENST00000309863 | 109102966 | 109103104 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000309863 | 109067483 | 109067568 | Frame-shift |
| ENST00000309863 | 109089282 | 109089355 | Frame-shift |
| ENST00000309863 | 109104154 | 109104276 | Frame-shift |
| ENST00000309863 | 109116008 | 109116210 | Frame-shift |
| ENST00000309863 | 109086106 | 109088572 | In-frame |
| ENST00000309863 | 109098742 | 109098907 | In-frame |
| ENST00000309863 | 109099517 | 109099622 | In-frame |
| ENST00000309863 | 109102966 | 109103104 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GCC2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000309863 | 7554 | 1684 | 109086106 | 109088572 | 1036 | 3501 | 107 | 929 |
| ENST00000309863 | 7554 | 1684 | 109098742 | 109098907 | 3895 | 4059 | 1060 | 1115 |
| ENST00000309863 | 7554 | 1684 | 109099517 | 109099622 | 4060 | 4164 | 1115 | 1150 |
| ENST00000309863 | 7554 | 1684 | 109102966 | 109103104 | 4507 | 4644 | 1264 | 1310 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000309863 | 7554 | 1684 | 109086106 | 109088572 | 1036 | 3501 | 107 | 929 |
| ENST00000309863 | 7554 | 1684 | 109098742 | 109098907 | 3895 | 4059 | 1060 | 1115 |
| ENST00000309863 | 7554 | 1684 | 109099517 | 109099622 | 4060 | 4164 | 1115 | 1150 |
| ENST00000309863 | 7554 | 1684 | 109102966 | 109103104 | 4507 | 4644 | 1264 | 1310 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q8IWJ2 | 107 | 929 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 107 | 929 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 107 | 929 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 107 | 929 | 236 | 236 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| Q8IWJ2 | 1060 | 1115 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1060 | 1115 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1060 | 1115 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1115 | 1150 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1115 | 1150 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1115 | 1150 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1115 | 1150 | 1134 | 1134 | Natural variant | ID=VAR_046635;Note=Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2718698 |
| Q8IWJ2 | 1264 | 1310 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1264 | 1310 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1264 | 1310 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1264 | 1310 | 1298 | 1298 | Natural variant | ID=VAR_016101;Note=R->G;Dbxref=dbSNP:rs1061202 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q8IWJ2 | 107 | 929 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 107 | 929 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 107 | 929 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 107 | 929 | 236 | 236 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| Q8IWJ2 | 1060 | 1115 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1060 | 1115 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1060 | 1115 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1115 | 1150 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1115 | 1150 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1115 | 1150 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1115 | 1150 | 1134 | 1134 | Natural variant | ID=VAR_046635;Note=Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs2718698 |
| Q8IWJ2 | 1264 | 1310 | 46 | 1684 | Alternative sequence | ID=VSP_040107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:15489334,PMID:9205841 |
| Q8IWJ2 | 1264 | 1310 | 1 | 1684 | Chain | ID=PRO_0000190074;Note=GRIP and coiled-coil domain-containing protein 2 |
| Q8IWJ2 | 1264 | 1310 | 110 | 1618 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWJ2 | 1264 | 1310 | 1298 | 1298 | Natural variant | ID=VAR_016101;Note=R->G;Dbxref=dbSNP:rs1061202 |
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SNVs in the skipped exons for GCC2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
GCC2_COAD_exon_skip_328488_psi_boxplot.png |
GCC2_ESCA_exon_skip_328482_psi_boxplot.png |
GCC2_ESCA_exon_skip_328488_psi_boxplot.png |
GCC2_LGG_exon_skip_328488_psi_boxplot.png |
GCC2_LIHC_exon_skip_328488_psi_boxplot.png |
GCC2_LUAD_exon_skip_328488_psi_boxplot.png |
GCC2_SKCM_exon_skip_328488_psi_boxplot.png |
GCC2_STAD_exon_skip_328488_psi_boxplot.png |
GCC2_UCEC_exon_skip_328488_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109086180 | 109086180 | Frame_Shift_Del | A | - | p.E132fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109086188 | 109086188 | Frame_Shift_Del | A | - | p.K135fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_328488 | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.N233fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_328488 | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_328488 | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_328488 | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_328488 | 109086107 | 109088572 | 109086542 | 109086542 | Frame_Shift_Del | A | - | p.K253fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109086706 | 109086706 | Frame_Shift_Del | A | - | p.S307fs |
| LGG | TCGA-E1-A7YJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109086787 | 109086790 | Frame_Shift_Del | CAAA | - | p.VK334fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109086874 | 109086874 | Frame_Shift_Del | A | - | p.L363fs |
| LUAD | TCGA-05-4398-01 | exon_skip_328488 | 109086107 | 109088572 | 109087055 | 109087056 | Frame_Shift_Del | AG | - | p.R424fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109087248 | 109087248 | Frame_Shift_Del | A | - | p.E488fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109087638 | 109087638 | Frame_Shift_Del | A | - | p.E618fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109087753 | 109087753 | Frame_Shift_Del | A | - | p.L656fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| STAD | TCGA-BR-4201-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| STAD | TCGA-BR-4361-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| STAD | TCGA-BR-4362-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| STAD | TCGA-BR-8382-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_328488 | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| COAD | TCGA-AD-6889-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| COAD | TCGA-D5-6928-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| GBM | TCGA-19-5953-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| STAD | TCGA-BR-6452-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109087914 | 109087914 | Frame_Shift_Del | T | - | p.V710fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109088158 | 109088158 | Frame_Shift_Del | A | - | p.A791fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109088331 | 109088331 | Frame_Shift_Del | A | - | p.E849fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328488 | 109086107 | 109088572 | 109088352 | 109088352 | Frame_Shift_Del | C | - | p.A856fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328488 | 109086107 | 109088572 | 109088391 | 109088391 | Frame_Shift_Del | A | - | p.E869fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328488 | 109086107 | 109088572 | 109088418 | 109088418 | Frame_Shift_Del | T | - | p.L879fs |
| STAD | TCGA-BR-4257-01 | exon_skip_328493 | 109089283 | 109089355 | 109089309 | 109089309 | Frame_Shift_Del | A | - | p.V938fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328497 | 109098743 | 109098907 | 109098879 | 109098879 | Frame_Shift_Del | A | - | p.E1106fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328497 | 109098743 | 109098907 | 109098890 | 109098890 | Frame_Shift_Del | A | - | p.K1110fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328498 | 109099518 | 109099622 | 109099572 | 109099572 | Frame_Shift_Del | C | - | p.Q1134fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328498 | 109099518 | 109099622 | 109099617 | 109099617 | Frame_Shift_Del | A | - | p.K1150fs |
| KIRC | TCGA-A3-3357-01 | exon_skip_328504 | 109104155 | 109104276 | 109104197 | 109104197 | Frame_Shift_Del | G | - | p.K1324fs |
| KIRC | TCGA-A3-3357-01 | exon_skip_328504 | 109104155 | 109104276 | 109104197 | 109104197 | Frame_Shift_Del | G | - | p.V1325fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_328506 | 109116009 | 109116210 | 109116050 | 109116050 | Frame_Shift_Del | G | - | p.E1608fs |
| BLCA | TCGA-K4-A3WS-01 | exon_skip_328488 | 109086107 | 109088572 | 109086923 | 109086924 | Frame_Shift_Ins | - | G | p.R380fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_328488 | 109086107 | 109088572 | 109087114 | 109087115 | Frame_Shift_Ins | - | T | p.TF443fs |
| BLCA | TCGA-GV-A40E-01 | exon_skip_328488 | 109086107 | 109088572 | 109087883 | 109087884 | Frame_Shift_Ins | - | A | p.E700fs |
| GBM | TCGA-41-2571-01 | exon_skip_328488 | 109086107 | 109088572 | 109087883 | 109087884 | Frame_Shift_Ins | - | A | p.E700fs |
| UCEC | TCGA-A5-A0GD-01 | exon_skip_328488 | 109086107 | 109088572 | 109087913 | 109087914 | Frame_Shift_Ins | - | T | p.V710fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_328506 | 109116009 | 109116210 | 109116025 | 109116026 | Frame_Shift_Ins | - | A | p.I1600fs |
| UCEC | TCGA-D1-A16X-01 | exon_skip_328483 | 109068855 | 109068922 | 109068866 | 109068866 | Nonsense_Mutation | G | T | p.E54* |
| STAD | TCGA-BR-8680-01 | exon_skip_328488 | 109086107 | 109088572 | 109086173 | 109086173 | Nonsense_Mutation | G | T | p.E130* |
| STAD | TCGA-BR-8680-01 | exon_skip_328488 | 109086107 | 109088572 | 109086173 | 109086173 | Nonsense_Mutation | G | T | p.E130X |
| SKCM | TCGA-EB-A3Y7-01 | exon_skip_328488 | 109086107 | 109088572 | 109086302 | 109086302 | Nonsense_Mutation | C | T | p.Q173* |
| SKCM | TCGA-EB-A3Y7-01 | exon_skip_328488 | 109086107 | 109088572 | 109086302 | 109086302 | Nonsense_Mutation | C | T | p.Q173X |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_328488 | 109086107 | 109088572 | 109086302 | 109086302 | Nonsense_Mutation | C | T | p.Q173* |
| BLCA | TCGA-G2-A2EF-01 | exon_skip_328488 | 109086107 | 109088572 | 109086467 | 109086467 | Nonsense_Mutation | C | T | p.Q228* |
| BRCA | TCGA-D8-A27M-01 | exon_skip_328488 | 109086107 | 109088572 | 109086705 | 109086705 | Nonsense_Mutation | C | A | p.S307* |
| LGG | TCGA-DU-6392-01 | exon_skip_328488 | 109086107 | 109088572 | 109086935 | 109086935 | Nonsense_Mutation | G | T | p.E384* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_328488 | 109086107 | 109088572 | 109087091 | 109087091 | Nonsense_Mutation | G | T | p.E436* |
| SKCM | TCGA-EE-A2MF-06 | exon_skip_328488 | 109086107 | 109088572 | 109087301 | 109087301 | Nonsense_Mutation | G | T | p.E506* |
| SKCM | TCGA-EE-A2MF-06 | exon_skip_328488 | 109086107 | 109088572 | 109087301 | 109087301 | Nonsense_Mutation | G | T | p.E506X |
| CESC | TCGA-JW-A5VL-01 | exon_skip_328488 | 109086107 | 109088572 | 109087433 | 109087433 | Nonsense_Mutation | C | T | p.Q550* |
| BLCA | TCGA-H4-A2HQ-01 | exon_skip_328488 | 109086107 | 109088572 | 109087478 | 109087478 | Nonsense_Mutation | C | T | p.Q565* |
| ESCA | TCGA-JY-A93F-01 | exon_skip_328488 | 109086107 | 109088572 | 109087535 | 109087535 | Nonsense_Mutation | G | T | p.E584* |
| ESCA | TCGA-JY-A93F-01 | exon_skip_328488 | 109086107 | 109088572 | 109087535 | 109087535 | Nonsense_Mutation | G | T | p.E584X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_328488 | 109086107 | 109088572 | 109087535 | 109087535 | Nonsense_Mutation | G | T | p.E584* |
| ACC | TCGA-OR-A5JA-01 | exon_skip_328488 | 109086107 | 109088572 | 109087646 | 109087646 | Nonsense_Mutation | G | T | p.E621* |
| READ | TCGA-AG-A002-01 | exon_skip_328488 | 109086107 | 109088572 | 109088435 | 109088435 | Nonsense_Mutation | G | T | p.E884X |
| STAD | TCGA-BR-4201-01 | exon_skip_328488 | 109086107 | 109088572 | 109088540 | 109088540 | Nonsense_Mutation | C | T | p.R919* |
| STAD | TCGA-BR-4201-01 | exon_skip_328488 | 109086107 | 109088572 | 109088540 | 109088540 | Nonsense_Mutation | C | T | p.R919X |
| STAD | TCGA-BR-8680-01 | exon_skip_328488 | 109086107 | 109088572 | 109088540 | 109088540 | Nonsense_Mutation | C | T | p.R919* |
| STAD | TCGA-BR-8680-01 | exon_skip_328488 | 109086107 | 109088572 | 109088540 | 109088540 | Nonsense_Mutation | C | T | p.R919X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_328498 | 109099518 | 109099622 | 109099602 | 109099602 | Nonsense_Mutation | G | T | p.E1144* |
| THYM | TCGA-4V-A9QJ-01 | exon_skip_328500 | 109102891 | 109103104 | 109103081 | 109103081 | Nonsense_Mutation | C | T | p.Q1303X |
| THYM | TCGA-4V-A9QJ-01 | exon_skip_328502 | 109102967 | 109103104 | 109103081 | 109103081 | Nonsense_Mutation | C | T | p.Q1303X |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_328504 | 109104155 | 109104276 | 109104200 | 109104200 | Nonsense_Mutation | C | T | p.R1326* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_328504 | 109104155 | 109104276 | 109104200 | 109104200 | Nonsense_Mutation | C | T | p.R1326X |
| UCEC | TCGA-B5-A11H-01 | exon_skip_328504 | 109104155 | 109104276 | 109104200 | 109104200 | Nonsense_Mutation | C | T | p.R1326* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_328506 | 109116009 | 109116210 | 109116051 | 109116051 | Nonsense_Mutation | C | T | p.R1609* |
| ESCA | TCGA-L5-A8NT-01 | exon_skip_328482 | 109067484 | 109067568 | 109067483 | 109067483 | Splice_Site | G | A | . |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_328482 | 109067484 | 109067568 | 109067569 | 109067569 | Splice_Site | G | A | . |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_328482 | 109067484 | 109067568 | 109067569 | 109067569 | Splice_Site | G | A | e3+1 |
| LUAD | TCGA-38-4631-01 | exon_skip_328482 | 109067484 | 109067568 | 109067569 | 109067569 | Splice_Site | G | C | p.E50_splice |
| ESCA | TCGA-R6-A6Y0-01 | exon_skip_328488 | 109086107 | 109088572 | 109086106 | 109086106 | Splice_Site | G | T | . |
| ESCA | TCGA-R6-A6Y0-01 | exon_skip_328488 | 109086107 | 109088572 | 109086106 | 109086106 | Splice_Site | G | T | e6-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-R6-A6Y0-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086106 | |
| Mutation end: 109086106 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-R6-A6Y0-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086106 | |
| Mutation end: 109086106 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: e6-1 | |
exon_skip_308211_ESCA_TCGA-R6-A6Y0-01.png | |
exon_skip_328488_ESCA_TCGA-R6-A6Y0-01.png | |
exon_skip_332068_ESCA_TCGA-R6-A6Y0-01.png | |
 | Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086173 | |
| Mutation end: 109086173 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E130X | |
| Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109088540 | |
| Mutation end: 109088540 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R919X | |
| Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086173 | |
| Mutation end: 109086173 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E130* | |
| Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109088540 | |
| Mutation end: 109088540 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R919* | |
exon_skip_106946_STAD_TCGA-BR-8680-01.png | |
exon_skip_107215_STAD_TCGA-BR-8680-01.png | |
exon_skip_122567_STAD_TCGA-BR-8680-01.png | |
exon_skip_122573_STAD_TCGA-BR-8680-01.png | |
exon_skip_144294_STAD_TCGA-BR-8680-01.png | |
exon_skip_26878_STAD_TCGA-BR-8680-01.png | |
exon_skip_30156_STAD_TCGA-BR-8680-01.png | |
exon_skip_324648_STAD_TCGA-BR-8680-01.png | |
exon_skip_326437_STAD_TCGA-BR-8680-01.png | |
exon_skip_326558_STAD_TCGA-BR-8680-01.png | |
exon_skip_326569_STAD_TCGA-BR-8680-01.png | |
exon_skip_328488_STAD_TCGA-BR-8680-01.png | |
exon_skip_335090_STAD_TCGA-BR-8680-01.png | |
exon_skip_389166_STAD_TCGA-BR-8680-01.png | |
exon_skip_40432_STAD_TCGA-BR-8680-01.png | |
exon_skip_40460_STAD_TCGA-BR-8680-01.png | |
exon_skip_40461_STAD_TCGA-BR-8680-01.png | |
exon_skip_436498_STAD_TCGA-BR-8680-01.png | |
exon_skip_466512_STAD_TCGA-BR-8680-01.png | |
exon_skip_478774_STAD_TCGA-BR-8680-01.png | |
exon_skip_484956_STAD_TCGA-BR-8680-01.png | |
exon_skip_64135_STAD_TCGA-BR-8680-01.png | |
exon_skip_64136_STAD_TCGA-BR-8680-01.png | |
exon_skip_64137_STAD_TCGA-BR-8680-01.png | |
exon_skip_69365_STAD_TCGA-BR-8680-01.png | |
exon_skip_69375_STAD_TCGA-BR-8680-01.png | |
exon_skip_75101_STAD_TCGA-BR-8680-01.png | |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086477 | |
| Mutation end: 109086477 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.N233fs | |
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png | |
 | Sample: TCGA-HF-A5NB-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109087914 | |
| Mutation end: 109087914 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.V710fs | |
| Sample: TCGA-HF-A5NB-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086477 | |
| Mutation end: 109086477 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.Q231fs | |
exon_skip_141199_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_20156_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_309972_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_314760_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_314762_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_328008_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_328488_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_343108_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_348822_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_390969_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_39582_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_428975_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_470473_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_93891_STAD_TCGA-HF-A5NB-01.png | |
 | Sample: TCGA-VQ-A8P2-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109086477 | |
| Mutation end: 109086477 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.Q231fs | |
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png | |
 | Sample: TCGA-BR-6452-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109087914 | |
| Mutation end: 109087914 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.V710fs | |
exon_skip_106795_STAD_TCGA-BR-6452-01.png | |
exon_skip_108765_STAD_TCGA-BR-6452-01.png | |
exon_skip_108766_STAD_TCGA-BR-6452-01.png | |
exon_skip_121160_STAD_TCGA-BR-6452-01.png | |
exon_skip_23930_STAD_TCGA-BR-6452-01.png | |
exon_skip_285856_STAD_TCGA-BR-6452-01.png | |
exon_skip_287166_STAD_TCGA-BR-6452-01.png | |
exon_skip_289814_STAD_TCGA-BR-6452-01.png | |
exon_skip_294522_STAD_TCGA-BR-6452-01.png | |
exon_skip_306852_STAD_TCGA-BR-6452-01.png | |
exon_skip_32096_STAD_TCGA-BR-6452-01.png | |
exon_skip_323984_STAD_TCGA-BR-6452-01.png | |
exon_skip_328488_STAD_TCGA-BR-6452-01.png | |
exon_skip_346425_STAD_TCGA-BR-6452-01.png | |
exon_skip_346426_STAD_TCGA-BR-6452-01.png | |
exon_skip_346508_STAD_TCGA-BR-6452-01.png | |
exon_skip_363933_STAD_TCGA-BR-6452-01.png | |
exon_skip_36702_STAD_TCGA-BR-6452-01.png | |
exon_skip_374468_STAD_TCGA-BR-6452-01.png | |
exon_skip_374469_STAD_TCGA-BR-6452-01.png | |
exon_skip_3814_STAD_TCGA-BR-6452-01.png | |
exon_skip_3815_STAD_TCGA-BR-6452-01.png | |
exon_skip_38648_STAD_TCGA-BR-6452-01.png | |
exon_skip_42656_STAD_TCGA-BR-6452-01.png | |
exon_skip_434406_STAD_TCGA-BR-6452-01.png | |
exon_skip_450406_STAD_TCGA-BR-6452-01.png | |
exon_skip_489149_STAD_TCGA-BR-6452-01.png | |
exon_skip_495200_STAD_TCGA-BR-6452-01.png | |
exon_skip_496317_STAD_TCGA-BR-6452-01.png | |
exon_skip_503611_STAD_TCGA-BR-6452-01.png | |
exon_skip_515792_STAD_TCGA-BR-6452-01.png | |
exon_skip_516330_STAD_TCGA-BR-6452-01.png | |
exon_skip_98550_STAD_TCGA-BR-6452-01.png | |
 | Sample: TCGA-BR-4361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109087884 | |
| Mutation end: 109087884 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E700fs | |
exon_skip_110606_STAD_TCGA-BR-4361-01.png | |
exon_skip_293444_STAD_TCGA-BR-4361-01.png | |
exon_skip_30776_STAD_TCGA-BR-4361-01.png | |
exon_skip_30782_STAD_TCGA-BR-4361-01.png | |
exon_skip_30792_STAD_TCGA-BR-4361-01.png | |
exon_skip_309972_STAD_TCGA-BR-4361-01.png | |
exon_skip_326683_STAD_TCGA-BR-4361-01.png | |
exon_skip_328488_STAD_TCGA-BR-4361-01.png | |
exon_skip_365627_STAD_TCGA-BR-4361-01.png | |
exon_skip_425876_STAD_TCGA-BR-4361-01.png | |
exon_skip_43854_STAD_TCGA-BR-4361-01.png | |
exon_skip_439047_STAD_TCGA-BR-4361-01.png | |
exon_skip_439048_STAD_TCGA-BR-4361-01.png | |
exon_skip_442657_STAD_TCGA-BR-4361-01.png | |
exon_skip_447822_STAD_TCGA-BR-4361-01.png | |
exon_skip_489149_STAD_TCGA-BR-4361-01.png | |
exon_skip_59757_STAD_TCGA-BR-4361-01.png | |
exon_skip_80320_STAD_TCGA-BR-4361-01.png | |
 | Sample: TCGA-BR-8382-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109087884 | |
| Mutation end: 109087884 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E700fs | |
exon_skip_328488_STAD_TCGA-BR-8382-01.png | |
exon_skip_356108_STAD_TCGA-BR-8382-01.png | |
exon_skip_447012_STAD_TCGA-BR-8382-01.png | |
exon_skip_447029_STAD_TCGA-BR-8382-01.png | |
exon_skip_449340_STAD_TCGA-BR-8382-01.png | |
exon_skip_517514_STAD_TCGA-BR-8382-01.png | |
 | Sample: TCGA-HU-A4H3-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328488 | |
| Skipped exon start: 109086107 | |
| Skipped exon end: 109088572 | |
| Mutation start: 109087884 | |
| Mutation end: 109087884 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E700fs | |
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_8059_STAD_TCGA-HU-A4H3-01.png | |
 | Sample: TCGA-Z6-A8JE-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_328482 | |
| Skipped exon start: 109067484 | |
| Skipped exon end: 109067568 | |
| Mutation start: 109067569 | |
| Mutation end: 109067569 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
| Sample: TCGA-Z6-A8JE-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_328482 | |
| Skipped exon start: 109067484 | |
| Skipped exon end: 109067568 | |
| Mutation start: 109067569 | |
| Mutation end: 109067569 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e3+1 | |
exon_skip_328482_ESCA_TCGA-Z6-A8JE-01.png | |
exon_skip_355288_ESCA_TCGA-Z6-A8JE-01.png | |
exon_skip_355289_ESCA_TCGA-Z6-A8JE-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| 22RV1_PROSTATE | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| 2313287_STOMACH | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| IM95_STOMACH | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| CW2_LARGE_INTESTINE | 109086107 | 109088572 | 109086477 | 109086477 | Frame_Shift_Del | A | - | p.Q231fs |
| SNUC4_LARGE_INTESTINE | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| SNU407_LARGE_INTESTINE | 109086107 | 109088572 | 109087884 | 109087884 | Frame_Shift_Del | A | - | p.E700fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109088390 | 109088390 | Frame_Shift_Del | G | - | p.E869fs |
| HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109086476 | 109086477 | Frame_Shift_Ins | - | A | p.Q231fs |
| NCIH1437_LUNG | 109086107 | 109088572 | 109086476 | 109086477 | Frame_Shift_Ins | - | A | p.Q231fs |
| HEPG2_LIVER | 109086107 | 109088572 | 109086910 | 109086911 | Frame_Shift_Ins | - | T | p.F376fs |
| JHUEM2_ENDOMETRIUM | 109086107 | 109088572 | 109088157 | 109088158 | Frame_Shift_Ins | - | A | p.AK791fs |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109086966 | 109086968 | In_Frame_Del | AAG | - | p.E396del |
| KM12_LARGE_INTESTINE | 109089283 | 109089355 | 109089302 | 109089304 | In_Frame_Del | CTT | - | p.S937del |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109067484 | 109067568 | 109067527 | 109067527 | Missense_Mutation | A | G | p.K36R |
| HT115_LARGE_INTESTINE | 109068855 | 109068922 | 109068868 | 109068868 | Missense_Mutation | A | C | p.E54D |
| COLO668_LUNG | 109086107 | 109088572 | 109086209 | 109086209 | Missense_Mutation | C | T | p.R142C |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109086210 | 109086210 | Missense_Mutation | G | A | p.R142H |
| KE39_STOMACH | 109086107 | 109088572 | 109086353 | 109086353 | Missense_Mutation | A | T | p.I190F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109086438 | 109086438 | Missense_Mutation | A | G | p.Q218R |
| HEC251_ENDOMETRIUM | 109086107 | 109088572 | 109086520 | 109086520 | Missense_Mutation | A | C | p.K245N |
| AU565_BREAST | 109086107 | 109088572 | 109086533 | 109086533 | Missense_Mutation | G | C | p.E250Q |
| LS180_LARGE_INTESTINE | 109086107 | 109088572 | 109086552 | 109086552 | Missense_Mutation | T | G | p.M256R |
| HEC6_ENDOMETRIUM | 109086107 | 109088572 | 109086647 | 109086647 | Missense_Mutation | G | A | p.E288K |
| IGR1_SKIN | 109086107 | 109088572 | 109086659 | 109086659 | Missense_Mutation | C | A | p.Q292K |
| JHUEM7_ENDOMETRIUM | 109086107 | 109088572 | 109086688 | 109086688 | Missense_Mutation | T | A | p.N301K |
| HT115_LARGE_INTESTINE | 109086107 | 109088572 | 109086847 | 109086847 | Missense_Mutation | G | T | p.E354D |
| JHOS4_OVARY | 109086107 | 109088572 | 109086955 | 109086955 | Missense_Mutation | A | C | p.L390F |
| NCIH2126_LUNG | 109086107 | 109088572 | 109086965 | 109086965 | Missense_Mutation | A | G | p.K394E |
| ETK1_BILIARY_TRACT | 109086107 | 109088572 | 109086998 | 109086998 | Missense_Mutation | A | C | p.K405Q |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109086999 | 109086999 | Missense_Mutation | A | C | p.K405T |
| HEC251_ENDOMETRIUM | 109086107 | 109088572 | 109087038 | 109087038 | Missense_Mutation | C | A | p.T418N |
| DSH1_URINARY_TRACT | 109086107 | 109088572 | 109087096 | 109087096 | Missense_Mutation | A | G | p.I437M |
| NCIH889_LUNG | 109086107 | 109088572 | 109087317 | 109087317 | Missense_Mutation | A | G | p.Q511R |
| CP66EBV_MATCHED_NORMAL_TISSUE | 109086107 | 109088572 | 109087348 | 109087348 | Missense_Mutation | G | C | p.Q521H |
| CP66MEL_SKIN | 109086107 | 109088572 | 109087348 | 109087348 | Missense_Mutation | G | C | p.Q521H |
| HCC1171_LUNG | 109086107 | 109088572 | 109087400 | 109087400 | Missense_Mutation | C | T | p.R539C |
| SH10TC_STOMACH | 109086107 | 109088572 | 109087437 | 109087437 | Missense_Mutation | A | C | p.Q551P |
| TE9_OESOPHAGUS | 109086107 | 109088572 | 109087841 | 109087841 | Missense_Mutation | G | A | p.E686K |
| HTCC3_THYROID | 109086107 | 109088572 | 109087863 | 109087863 | Missense_Mutation | A | G | p.E693G |
| HCC1195_LUNG | 109086107 | 109088572 | 109087899 | 109087899 | Missense_Mutation | G | C | p.S705T |
| IM95_STOMACH | 109086107 | 109088572 | 109087956 | 109087956 | Missense_Mutation | T | C | p.I724T |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109088015 | 109088015 | Missense_Mutation | C | G | p.L744V |
| IGROV1_OVARY | 109086107 | 109088572 | 109088045 | 109088045 | Missense_Mutation | T | C | p.F754L |
| SF268_CENTRAL_NERVOUS_SYSTEM | 109086107 | 109088572 | 109088083 | 109088083 | Missense_Mutation | G | A | p.M766I |
| SNUC2A_LARGE_INTESTINE | 109086107 | 109088572 | 109088106 | 109088106 | Missense_Mutation | G | A | p.S774N |
| JHUEM1_ENDOMETRIUM | 109086107 | 109088572 | 109088196 | 109088196 | Missense_Mutation | G | A | p.R804H |
| HCC2450_LUNG | 109086107 | 109088572 | 109088294 | 109088294 | Missense_Mutation | G | A | p.E837K |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 109086107 | 109088572 | 109088403 | 109088403 | Missense_Mutation | T | C | p.L873P |
| MCC13_SKIN | 109086107 | 109088572 | 109088541 | 109088541 | Missense_Mutation | G | A | p.R919Q |
| NCIH1734_LUNG | 109086107 | 109088572 | 109088541 | 109088541 | Missense_Mutation | G | T | p.R919L |
| OAW28_OVARY | 109086107 | 109088572 | 109088560 | 109088560 | Missense_Mutation | G | C | p.L925F |
| A549_LUNG | 109098743 | 109098907 | 109098901 | 109098901 | Missense_Mutation | G | T | p.K1113N |
| RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109099518 | 109099622 | 109099575 | 109099575 | Missense_Mutation | A | C | p.K1135Q |
| EN_ENDOMETRIUM | 109102891 | 109103104 | 109103013 | 109103013 | Missense_Mutation | A | G | p.H1280R |
| EN_ENDOMETRIUM | 109102967 | 109103104 | 109103013 | 109103013 | Missense_Mutation | A | G | p.H1280R |
| HEC108_ENDOMETRIUM | 109102891 | 109103104 | 109103058 | 109103058 | Missense_Mutation | A | G | p.Y1295C |
| HEC108_ENDOMETRIUM | 109102967 | 109103104 | 109103058 | 109103058 | Missense_Mutation | A | G | p.Y1295C |
| SNU245_BILIARY_TRACT | 109102891 | 109103104 | 109103066 | 109103066 | Missense_Mutation | A | G | p.R1298G |
| SNU245_BILIARY_TRACT | 109102967 | 109103104 | 109103066 | 109103066 | Missense_Mutation | A | G | p.R1298G |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 109102891 | 109103104 | 109103082 | 109103082 | Missense_Mutation | A | C | p.Q1303P |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 109102967 | 109103104 | 109103082 | 109103082 | Missense_Mutation | A | C | p.Q1303P |
| NCIH2722_PLEURA | 109102891 | 109103104 | 109103091 | 109103091 | Missense_Mutation | G | A | p.C1306Y |
| NCIH2722_PLEURA | 109102967 | 109103104 | 109103091 | 109103091 | Missense_Mutation | G | A | p.C1306Y |
| HT1376_URINARY_TRACT | 109104155 | 109104276 | 109104257 | 109104257 | Missense_Mutation | G | A | p.E1345K |
| CW2_LARGE_INTESTINE | 109116009 | 109116210 | 109116060 | 109116060 | Missense_Mutation | T | A | p.S1612T |
| 639V_URINARY_TRACT | 109116009 | 109116210 | 109116073 | 109116073 | Missense_Mutation | T | C | p.L1616P |
| SNU175_LARGE_INTESTINE | 109116009 | 109116210 | 109116090 | 109116090 | Missense_Mutation | G | A | p.V1622I |
| GSS_STOMACH | 109116009 | 109116210 | 109116130 | 109116130 | Missense_Mutation | G | A | p.R1635K |
| NCIH23_LUNG | 109116009 | 109116210 | 109116157 | 109116157 | Missense_Mutation | C | T | p.T1644M |
| MFE319_ENDOMETRIUM | 109116009 | 109116210 | 109116196 | 109116196 | Missense_Mutation | C | T | p.A1657V |
| SNGM_ENDOMETRIUM | 109086107 | 109088572 | 109087235 | 109087235 | Nonsense_Mutation | C | T | p.R484* |
| JHUEM7_ENDOMETRIUM | 109086107 | 109088572 | 109087724 | 109087724 | Nonsense_Mutation | G | T | p.E647* |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109086107 | 109088572 | 109088264 | 109088264 | Nonsense_Mutation | G | T | p.E827* |
| HEC251_ENDOMETRIUM | 109086107 | 109088572 | 109088540 | 109088540 | Nonsense_Mutation | C | T | p.R919* |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109099518 | 109099622 | 109099539 | 109099539 | Nonsense_Mutation | G | T | p.E1123* |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 109104155 | 109104276 | 109104200 | 109104200 | Nonsense_Mutation | C | T | p.R1326* |
| NCIH82_LUNG | 109086107 | 109088572 | 109088572 | 109088572 | Splice_Site | G | T | p.K929N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GCC2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GCC2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GCC2 |
Top |
RelatedDrugs for GCC2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GCC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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