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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 TRIO |
 Gene summary |
| Gene information | Gene symbol | TRIO | Gene ID | 7204 |
| Gene name | trio Rho guanine nucleotide exchange factor | |
| Synonyms | ARHGEF23|MEBAS|MRD44|tgat | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | triple functional domain proteinPTPRF-interacting proteintriple functional domain (PTPRF interacting) | |
| Modification date | 20180527 | |
| UniProtAcc | O75962 | |
| Context | PubMed: TRIO [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 TRIO 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 TRIO |
| 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 TRIO |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434014 | 5 | 14143945:14143991:14270933:14271008:14280430:14280545 | 14270933:14271008 | ENSG00000038382.13 | ENST00000537187.1,ENST00000502816.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434016 | 5 | 14297180:14297372:14304569:14304701:14316621:14316852 | 14304569:14304701 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000509967.2,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434018 | 5 | 14316621:14316852:14330886:14331009:14336644:14336836 | 14330886:14331009 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000509967.2,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434020 | 5 | 14397151:14397263:14398988:14399179:14401071:14401173 | 14398988:14399179 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434025 | 5 | 14399132:14399179:14401071:14401173:14405956:14406099 | 14401071:14401173 | ENSG00000038382.13 | ENST00000537187.1,ENST00000509354.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434030 | 5 | 14462863:14463034:14465653:14465749:14471426:14471575 | 14465653:14465749 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434032 | 5 | 14474120:14474206:14477002:14477072:14479369:14479459 | 14477002:14477072 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434033 | 5 | 14477002:14477072:14479369:14479459:14480027:14480120 | 14479369:14479459 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434034 | 5 | 14481342:14481393:14481649:14481727:14482690:14482882 | 14481649:14481727 | ENSG00000038382.13 | ENST00000537187.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434035 | 5 | 14482726:14482882:14485177:14485355:14487572:14487839 | 14485177:14485355 | ENSG00000038382.13 | ENST00000537187.1,ENST00000510281.1,ENST00000513206.1,ENST00000515144.1,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434039 | 5 | 14485284:14485355:14487572:14487839:14492675:14492923 | 14487572:14487839 | ENSG00000038382.13 | ENST00000512070.2 |
| exon_skip_434040 | 5 | 14485284:14485355:14487572:14488369:14492675:14492923 | 14487572:14488369 | ENSG00000038382.13 | ENST00000513206.1,ENST00000344204.4 |
| exon_skip_434059 | 5 | 14498627:14498749:14502687:14502766:14531852:14532235 | 14502687:14502766 | ENSG00000038382.13 | ENST00000513206.1 |
| exon_skip_434066 | 5 | 14502687:14502766:14504501:14504702:14507230:14507369 | 14504501:14504702 | ENSG00000038382.13 | ENST00000537187.1,ENST00000344135.5,ENST00000344204.4,ENST00000512070.2 |
| exon_skip_434067 | 5 | 14502687:14502766:14504501:14504702:14507988:14508442 | 14504501:14504702 | ENSG00000038382.13 | ENST00000508717.1 |
| exon_skip_434098 | 5 | 14504501:14504702:14507230:14507369:14507988:14508442 | 14507230:14507369 | ENSG00000038382.13 | ENST00000537187.1,ENST00000344135.5,ENST00000344204.4,ENST00000512070.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TRIO |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434016 | 5 | 14297180:14297372:14304569:14304701:14316621:14316852 | 14304569:14304701 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000509967.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434018 | 5 | 14316621:14316852:14330886:14331009:14336644:14336836 | 14330886:14331009 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000509967.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434020 | 5 | 14397151:14397263:14398988:14399179:14401071:14401173 | 14398988:14399179 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434030 | 5 | 14462863:14463034:14465653:14465749:14471426:14471575 | 14465653:14465749 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434032 | 5 | 14474120:14474206:14477002:14477072:14479369:14479459 | 14477002:14477072 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434033 | 5 | 14477002:14477072:14479369:14479459:14480027:14480120 | 14479369:14479459 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434034 | 5 | 14481342:14481393:14481649:14481727:14482690:14482882 | 14481649:14481727 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1 |
| exon_skip_434035 | 5 | 14482726:14482882:14485177:14485355:14487572:14487839 | 14485177:14485355 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000513206.1,ENST00000515144.1,ENST00000510281.1 |
| exon_skip_434039 | 5 | 14485284:14485355:14487572:14487839:14492675:14492923 | 14487572:14487839 | ENSG00000038382.13 | ENST00000512070.2 |
| exon_skip_434040 | 5 | 14485284:14485355:14487572:14488369:14492675:14492923 | 14487572:14488369 | ENSG00000038382.13 | ENST00000344204.4,ENST00000513206.1 |
| exon_skip_434059 | 5 | 14498627:14498749:14502687:14502766:14531852:14532235 | 14502687:14502766 | ENSG00000038382.13 | ENST00000513206.1 |
| exon_skip_434066 | 5 | 14502687:14502766:14504501:14504702:14507230:14507369 | 14504501:14504702 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000344135.5 |
| exon_skip_434067 | 5 | 14502687:14502766:14504501:14504702:14507988:14508442 | 14504501:14504702 | ENSG00000038382.13 | ENST00000508717.1 |
| exon_skip_434098 | 5 | 14504501:14504702:14507230:14507369:14507988:14508442 | 14507230:14507369 | ENSG00000038382.13 | ENST00000344204.4,ENST00000537187.1,ENST00000512070.2,ENST00000344135.5 |
| 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 TRIO |
| 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 |
| ENST00000344204 | 14398988 | 14399179 | Frame-shift |
| ENST00000344204 | 14477002 | 14477072 | Frame-shift |
| ENST00000344204 | 14485177 | 14485355 | Frame-shift |
| ENST00000344204 | 14487572 | 14488369 | Frame-shift |
| ENST00000344204 | 14507230 | 14507369 | Frame-shift |
| ENST00000344204 | 14270933 | 14271008 | In-frame |
| ENST00000344204 | 14304569 | 14304701 | In-frame |
| ENST00000344204 | 14330886 | 14331009 | In-frame |
| ENST00000344204 | 14401071 | 14401173 | In-frame |
| ENST00000344204 | 14465653 | 14465749 | In-frame |
| ENST00000344204 | 14479369 | 14479459 | In-frame |
| ENST00000344204 | 14481649 | 14481727 | In-frame |
| ENST00000344204 | 14504501 | 14504702 | 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 |
| ENST00000344204 | 14398988 | 14399179 | Frame-shift |
| ENST00000344204 | 14477002 | 14477072 | Frame-shift |
| ENST00000344204 | 14485177 | 14485355 | Frame-shift |
| ENST00000344204 | 14487572 | 14488369 | Frame-shift |
| ENST00000344204 | 14507230 | 14507369 | Frame-shift |
| ENST00000344204 | 14304569 | 14304701 | In-frame |
| ENST00000344204 | 14330886 | 14331009 | In-frame |
| ENST00000344204 | 14465653 | 14465749 | In-frame |
| ENST00000344204 | 14479369 | 14479459 | In-frame |
| ENST00000344204 | 14481649 | 14481727 | In-frame |
| ENST00000344204 | 14504501 | 14504702 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TRIO |
| 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 |
| ENST00000344204 | 11117 | 3097 | 14270933 | 14271008 | 182 | 256 | 52 | 77 |
| ENST00000344204 | 11117 | 3097 | 14304569 | 14304701 | 1393 | 1524 | 456 | 500 |
| ENST00000344204 | 11117 | 3097 | 14330886 | 14331009 | 1756 | 1878 | 577 | 618 |
| ENST00000344204 | 11117 | 3097 | 14401071 | 14401173 | 4639 | 4740 | 1538 | 1572 |
| ENST00000344204 | 11117 | 3097 | 14465653 | 14465749 | 5692 | 5787 | 1889 | 1921 |
| ENST00000344204 | 11117 | 3097 | 14479369 | 14479459 | 6178 | 6267 | 2051 | 2081 |
| ENST00000344204 | 11117 | 3097 | 14481649 | 14481727 | 6412 | 6489 | 2129 | 2155 |
| ENST00000344204 | 11117 | 3097 | 14504501 | 14504702 | 8436 | 8636 | 2804 | 2870 |
| 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 |
| ENST00000344204 | 11117 | 3097 | 14304569 | 14304701 | 1393 | 1524 | 456 | 500 |
| ENST00000344204 | 11117 | 3097 | 14330886 | 14331009 | 1756 | 1878 | 577 | 618 |
| ENST00000344204 | 11117 | 3097 | 14465653 | 14465749 | 5692 | 5787 | 1889 | 1921 |
| ENST00000344204 | 11117 | 3097 | 14479369 | 14479459 | 6178 | 6267 | 2051 | 2081 |
| ENST00000344204 | 11117 | 3097 | 14481649 | 14481727 | 6412 | 6489 | 2129 | 2155 |
| ENST00000344204 | 11117 | 3097 | 14504501 | 14504702 | 8436 | 8636 | 2804 | 2870 |
| 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 |
| O75962 | 52 | 77 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 52 | 77 | 1 | 59 | Alternative sequence | ID=VSP_037860;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O75962 | 52 | 77 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 52 | 77 | 65 | 210 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| O75962 | 456 | 500 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 456 | 500 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 577 | 618 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 577 | 618 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 577 | 618 | 538 | 644 | Repeat | Note=Spectrin 2 |
| O75962 | 1538 | 1572 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 1538 | 1572 | 1529 | 1538 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1538 | 1572 | 1542 | 1545 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1538 | 1572 | 1549 | 1552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2NZ8 |
| O75962 | 1538 | 1572 | 1554 | 1562 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1538 | 1572 | 1569 | 1572 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1538 | 1572 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 1538 | 1572 | 1480 | 1591 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| O75962 | 1538 | 1572 | 1539 | 1541 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1538 | 1572 | 1565 | 1567 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NTY |
| O75962 | 1889 | 1921 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 1889 | 1921 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2051 | 2081 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 2051 | 2081 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2051 | 2081 | 1969 | 2145 | Domain | Note=DH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O75962 | 2129 | 2155 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 2129 | 2155 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2129 | 2155 | 1969 | 2145 | Domain | Note=DH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O75962 | 2804 | 2870 | 2564 | 3097 | Alternative sequence | ID=VSP_037862;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 |
| O75962 | 2804 | 2870 | 2825 | 2825 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O75962 | 2804 | 2870 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2804 | 2870 | 2796 | 3052 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O75962 | 2804 | 2870 | 2802 | 2810 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| 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 |
| O75962 | 456 | 500 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 456 | 500 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 577 | 618 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 577 | 618 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 577 | 618 | 538 | 644 | Repeat | Note=Spectrin 2 |
| O75962 | 1889 | 1921 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 1889 | 1921 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2051 | 2081 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 2051 | 2081 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2051 | 2081 | 1969 | 2145 | Domain | Note=DH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O75962 | 2129 | 2155 | 1 | 2501 | Alternative sequence | ID=VSP_023306;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75962 | 2129 | 2155 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2129 | 2155 | 1969 | 2145 | Domain | Note=DH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O75962 | 2804 | 2870 | 2564 | 3097 | Alternative sequence | ID=VSP_037862;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 |
| O75962 | 2804 | 2870 | 2825 | 2825 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O75962 | 2804 | 2870 | 1 | 3097 | Chain | ID=PRO_0000080978;Note=Triple functional domain protein |
| O75962 | 2804 | 2870 | 2796 | 3052 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O75962 | 2804 | 2870 | 2802 | 2810 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for TRIO |
| - 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. |
TRIO_COAD_exon_skip_434040_psi_boxplot.png |
TRIO_LIHC_exon_skip_434040_psi_boxplot.png |
TRIO_SKCM_exon_skip_434040_psi_boxplot.png |
TRIO_STAD_exon_skip_434040_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 |
| COAD | TCGA-AZ-6598-01 | exon_skip_434014 | 14270934 | 14271008 | 14270941 | 14270941 | Frame_Shift_Del | A | - | p.R55fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434016 | 14304570 | 14304701 | 14304621 | 14304621 | Frame_Shift_Del | C | - | p.P474fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434016 | 14304570 | 14304701 | 14304638 | 14304638 | Frame_Shift_Del | C | - | p.D479fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434020 | 14398989 | 14399179 | 14398998 | 14398998 | Frame_Shift_Del | A | - | p.E1478fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_434032 | 14477003 | 14477072 | 14477004 | 14477004 | Frame_Shift_Del | T | - | p.D2028fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_434032 | 14477003 | 14477072 | 14477004 | 14477004 | Frame_Shift_Del | T | - | p.L2031fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_434032 | 14477003 | 14477072 | 14477004 | 14477004 | Frame_Shift_Del | T | - | p.D2028fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_434032 | 14477003 | 14477072 | 14477004 | 14477004 | Frame_Shift_Del | T | - | p.D2028_splice |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_434032 | 14477003 | 14477072 | 14477044 | 14477044 | Frame_Shift_Del | A | - | p.E2042fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434035 | 14485178 | 14485355 | 14485326 | 14485326 | Frame_Shift_Del | T | - | p.I2269fs |
| COAD | TCGA-A6-5665-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| COAD | TCGA-A6-5665-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| COAD | TCGA-G4-6588-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| COAD | TCGA-G4-6588-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| LIHC | TCGA-FV-A3I1-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| LIHC | TCGA-FV-A3I1-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| SKCM | TCGA-EE-A20F-06 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| SKCM | TCGA-EE-A20F-06 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| STAD | TCGA-BR-7707-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| STAD | TCGA-BR-7707-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| STAD | TCGA-CG-4442-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| STAD | TCGA-CG-4442-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487781 | Frame_Shift_Del | C | - | p.H2348fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_434040 | 14487573 | 14488369 | 14488156 | 14488156 | Frame_Shift_Del | C | - | p.F2473fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_434040 | 14487573 | 14488369 | 14488156 | 14488156 | Frame_Shift_Del | C | - | p.F2473fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_434035 | 14485178 | 14485355 | 14485344 | 14485345 | Frame_Shift_Ins | - | T | p.I2275fs |
| COAD | TCGA-AM-5820-01 | exon_skip_434039 | 14487573 | 14487839 | 14487780 | 14487781 | Frame_Shift_Ins | - | C | p.H2348fs |
| COAD | TCGA-AM-5820-01 | exon_skip_434040 | 14487573 | 14488369 | 14487780 | 14487781 | Frame_Shift_Ins | - | C | p.H2348fs |
| LUAD | TCGA-17-Z043-01 | exon_skip_434039 | 14487573 | 14487839 | 14487780 | 14487781 | Frame_Shift_Ins | - | C | p.P2348fs |
| LUAD | TCGA-17-Z043-01 | exon_skip_434040 | 14487573 | 14488369 | 14487780 | 14487781 | Frame_Shift_Ins | - | C | p.P2348fs |
| STAD | TCGA-BR-4362-01 | exon_skip_434039 | 14487573 | 14487839 | 14487781 | 14487782 | Frame_Shift_Ins | - | C | p.H2348fs |
| STAD | TCGA-BR-4362-01 | exon_skip_434040 | 14487573 | 14488369 | 14487781 | 14487782 | Frame_Shift_Ins | - | C | p.H2348fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_434040 | 14487573 | 14488369 | 14488155 | 14488156 | Frame_Shift_Ins | - | C | p.F2473fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_434040 | 14487573 | 14488369 | 14488155 | 14488156 | Frame_Shift_Ins | - | CC | p.F2473fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_434040 | 14487573 | 14488369 | 14488156 | 14488157 | Frame_Shift_Ins | - | CC | p.F2473fs |
| CHOL | TCGA-3X-AAV9-01 | exon_skip_434020 | 14398989 | 14399179 | 14399006 | 14399006 | Nonsense_Mutation | G | T | p.E1481* |
| BLCA | TCGA-GD-A3OP-01 | exon_skip_434020 | 14398989 | 14399179 | 14399069 | 14399069 | Nonsense_Mutation | C | T | p.R1502* |
| UCEC | TCGA-AP-A056-01 | exon_skip_434020 | 14398989 | 14399179 | 14399069 | 14399069 | Nonsense_Mutation | C | T | p.R1502* |
| LUAD | TCGA-44-6777-01 | exon_skip_434033 | 14479370 | 14479459 | 14479403 | 14479403 | Nonsense_Mutation | C | T | p.Q2063* |
| COAD | TCGA-AU-6004-01 | exon_skip_434040 | 14487573 | 14488369 | 14488223 | 14488223 | Nonsense_Mutation | C | T | p.R2496X |
| UCEC | TCGA-B5-A11J-01 | exon_skip_434066 exon_skip_434067 | 14504502 | 14504702 | 14504623 | 14504623 | Nonsense_Mutation | C | T | p.Q2845* |
| LUAD | TCGA-73-4659-01 | exon_skip_434018 | 14330887 | 14331009 | 14331009 | 14331010 | Splice_Site | GG | TT | p.Q618_splice |
| COAD | TCGA-CM-4743-01 | exon_skip_434030 | 14465654 | 14465749 | 14465652 | 14465652 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AU-6004-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14488223 | |
| Mutation end: 14488223 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R2496X | |
exon_skip_121002_COAD_TCGA-AU-6004-01.png | |
exon_skip_137953_COAD_TCGA-AU-6004-01.png | |
exon_skip_300676_COAD_TCGA-AU-6004-01.png | |
exon_skip_336630_COAD_TCGA-AU-6004-01.png | |
exon_skip_422717_COAD_TCGA-AU-6004-01.png | |
exon_skip_434040_COAD_TCGA-AU-6004-01.png | |
exon_skip_454598_COAD_TCGA-AU-6004-01.png | |
exon_skip_55853_COAD_TCGA-AU-6004-01.png | |
 | Sample: TCGA-AM-5820-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487780 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.H2348fs | |
| Sample: TCGA-AM-5820-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487780 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.H2348fs | |
exon_skip_115380_COAD_TCGA-AM-5820-01.png | |
exon_skip_353131_COAD_TCGA-AM-5820-01.png | |
exon_skip_353132_COAD_TCGA-AM-5820-01.png | |
exon_skip_378789_COAD_TCGA-AM-5820-01.png | |
exon_skip_434039_COAD_TCGA-AM-5820-01.png | |
exon_skip_434040_COAD_TCGA-AM-5820-01.png | |
exon_skip_444819_COAD_TCGA-AM-5820-01.png | |
exon_skip_457351_COAD_TCGA-AM-5820-01.png | |
exon_skip_457353_COAD_TCGA-AM-5820-01.png | |
exon_skip_457357_COAD_TCGA-AM-5820-01.png | |
exon_skip_476604_COAD_TCGA-AM-5820-01.png | |
exon_skip_476606_COAD_TCGA-AM-5820-01.png | |
exon_skip_47704_COAD_TCGA-AM-5820-01.png | |
exon_skip_56024_COAD_TCGA-AM-5820-01.png | |
 | Sample: TCGA-A6-5665-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-A6-5665-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_11611_COAD_TCGA-A6-5665-01.png | |
exon_skip_11615_COAD_TCGA-A6-5665-01.png | |
exon_skip_11638_COAD_TCGA-A6-5665-01.png | |
exon_skip_11641_COAD_TCGA-A6-5665-01.png | |
exon_skip_141199_COAD_TCGA-A6-5665-01.png | |
exon_skip_145709_COAD_TCGA-A6-5665-01.png | |
exon_skip_290233_COAD_TCGA-A6-5665-01.png | |
exon_skip_297638_COAD_TCGA-A6-5665-01.png | |
exon_skip_303317_COAD_TCGA-A6-5665-01.png | |
exon_skip_339648_COAD_TCGA-A6-5665-01.png | |
exon_skip_347690_COAD_TCGA-A6-5665-01.png | |
exon_skip_389258_COAD_TCGA-A6-5665-01.png | |
exon_skip_389265_COAD_TCGA-A6-5665-01.png | |
exon_skip_434039_COAD_TCGA-A6-5665-01.png | |
exon_skip_434040_COAD_TCGA-A6-5665-01.png | |
exon_skip_438605_COAD_TCGA-A6-5665-01.png | |
exon_skip_91135_COAD_TCGA-A6-5665-01.png | |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434014 | |
| Skipped exon start: 14270934 | |
| Skipped exon end: 14271008 | |
| Mutation start: 14270941 | |
| Mutation end: 14270941 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.R55fs | |
| Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135112_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135114_COAD_TCGA-AZ-6598-01.png | |
exon_skip_139080_COAD_TCGA-AZ-6598-01.png | |
exon_skip_142268_COAD_TCGA-AZ-6598-01.png | |
exon_skip_149455_COAD_TCGA-AZ-6598-01.png | |
exon_skip_300996_COAD_TCGA-AZ-6598-01.png | |
exon_skip_303809_COAD_TCGA-AZ-6598-01.png | |
exon_skip_357723_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384067_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384069_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384070_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434039_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434040_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
exon_skip_49506_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
exon_skip_84515_COAD_TCGA-AZ-6598-01.png | |
 | Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_135806_COAD_TCGA-G4-6588-01.png | |
exon_skip_136696_COAD_TCGA-G4-6588-01.png | |
exon_skip_313058_COAD_TCGA-G4-6588-01.png | |
exon_skip_322889_COAD_TCGA-G4-6588-01.png | |
exon_skip_322890_COAD_TCGA-G4-6588-01.png | |
exon_skip_330818_COAD_TCGA-G4-6588-01.png | |
exon_skip_382354_COAD_TCGA-G4-6588-01.png | |
exon_skip_386802_COAD_TCGA-G4-6588-01.png | |
exon_skip_4028_COAD_TCGA-G4-6588-01.png | |
exon_skip_434039_COAD_TCGA-G4-6588-01.png | |
exon_skip_434040_COAD_TCGA-G4-6588-01.png | |
exon_skip_5121_COAD_TCGA-G4-6588-01.png | |
exon_skip_5861_COAD_TCGA-G4-6588-01.png | |
exon_skip_68768_COAD_TCGA-G4-6588-01.png | |
exon_skip_76742_COAD_TCGA-G4-6588-01.png | |
 | Sample: TCGA-FV-A3I1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-FV-A3I1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_434039_LIHC_TCGA-FV-A3I1-01.png | |
exon_skip_434040_LIHC_TCGA-FV-A3I1-01.png | |
exon_skip_6331_LIHC_TCGA-FV-A3I1-01.png | |
 | Sample: TCGA-EE-A20F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-EE-A20F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_434039_SKCM_TCGA-EE-A20F-06.png | |
exon_skip_434040_SKCM_TCGA-EE-A20F-06.png | |
 | Sample: TCGA-CG-4442-01 |
| Cancer type: STAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-CG-4442-01 |
| Cancer type: STAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
exon_skip_290005_STAD_TCGA-CG-4442-01.png | |
exon_skip_290006_STAD_TCGA-CG-4442-01.png | |
exon_skip_316510_STAD_TCGA-CG-4442-01.png | |
exon_skip_316513_STAD_TCGA-CG-4442-01.png | |
exon_skip_325884_STAD_TCGA-CG-4442-01.png | |
exon_skip_326643_STAD_TCGA-CG-4442-01.png | |
exon_skip_326644_STAD_TCGA-CG-4442-01.png | |
exon_skip_326646_STAD_TCGA-CG-4442-01.png | |
exon_skip_335781_STAD_TCGA-CG-4442-01.png | |
exon_skip_335783_STAD_TCGA-CG-4442-01.png | |
exon_skip_434039_STAD_TCGA-CG-4442-01.png | |
exon_skip_434040_STAD_TCGA-CG-4442-01.png | |
exon_skip_494000_STAD_TCGA-CG-4442-01.png | |
exon_skip_86786_STAD_TCGA-CG-4442-01.png | |
 | Sample: TCGA-CD-A4MG-01 |
| Cancer type: STAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14488155 | |
| Mutation end: 14488156 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.F2473fs | |
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_140893_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_149455_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_27769_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_373886_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_4028_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_434040_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_452918_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_460764_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_460769_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_464126_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_467032_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_477308_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_493826_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_493827_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_499045_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_63587_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_74321_STAD_TCGA-CD-A4MG-01.png | |
 | Sample: TCGA-AM-5820-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487780 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.H2348fs | |
| Sample: TCGA-AM-5820-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487780 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.H2348fs | |
| exon_skip_115380_COAD_TCGA-AM-5820-01.png | |
| exon_skip_353131_COAD_TCGA-AM-5820-01.png | |
| exon_skip_353132_COAD_TCGA-AM-5820-01.png | |
| exon_skip_378789_COAD_TCGA-AM-5820-01.png | |
| exon_skip_434039_COAD_TCGA-AM-5820-01.png | |
| exon_skip_434040_COAD_TCGA-AM-5820-01.png | |
| exon_skip_444819_COAD_TCGA-AM-5820-01.png | |
| exon_skip_457351_COAD_TCGA-AM-5820-01.png | |
| exon_skip_457353_COAD_TCGA-AM-5820-01.png | |
| exon_skip_457357_COAD_TCGA-AM-5820-01.png | |
| exon_skip_476604_COAD_TCGA-AM-5820-01.png | |
| exon_skip_476606_COAD_TCGA-AM-5820-01.png | |
| exon_skip_47704_COAD_TCGA-AM-5820-01.png | |
| exon_skip_56024_COAD_TCGA-AM-5820-01.png | |
 | Sample: TCGA-A6-5665-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-A6-5665-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_11611_COAD_TCGA-A6-5665-01.png | |
| exon_skip_11615_COAD_TCGA-A6-5665-01.png | |
| exon_skip_11638_COAD_TCGA-A6-5665-01.png | |
| exon_skip_11641_COAD_TCGA-A6-5665-01.png | |
| exon_skip_141199_COAD_TCGA-A6-5665-01.png | |
| exon_skip_145709_COAD_TCGA-A6-5665-01.png | |
| exon_skip_290233_COAD_TCGA-A6-5665-01.png | |
| exon_skip_297638_COAD_TCGA-A6-5665-01.png | |
| exon_skip_303317_COAD_TCGA-A6-5665-01.png | |
| exon_skip_339648_COAD_TCGA-A6-5665-01.png | |
| exon_skip_347690_COAD_TCGA-A6-5665-01.png | |
| exon_skip_389258_COAD_TCGA-A6-5665-01.png | |
| exon_skip_389265_COAD_TCGA-A6-5665-01.png | |
| exon_skip_434039_COAD_TCGA-A6-5665-01.png | |
| exon_skip_434040_COAD_TCGA-A6-5665-01.png | |
| exon_skip_438605_COAD_TCGA-A6-5665-01.png | |
| exon_skip_91135_COAD_TCGA-A6-5665-01.png | |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434014 | |
| Skipped exon start: 14270934 | |
| Skipped exon end: 14271008 | |
| Mutation start: 14270941 | |
| Mutation end: 14270941 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.R55fs | |
| Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_135112_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_135114_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_139080_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_142268_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_149455_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_300996_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_303809_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_357723_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_384067_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_384069_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_384070_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_434039_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_434040_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_49506_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_84515_COAD_TCGA-AZ-6598-01.png | |
 | Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_135806_COAD_TCGA-G4-6588-01.png | |
| exon_skip_136696_COAD_TCGA-G4-6588-01.png | |
| exon_skip_313058_COAD_TCGA-G4-6588-01.png | |
| exon_skip_322889_COAD_TCGA-G4-6588-01.png | |
| exon_skip_322890_COAD_TCGA-G4-6588-01.png | |
| exon_skip_330818_COAD_TCGA-G4-6588-01.png | |
| exon_skip_382354_COAD_TCGA-G4-6588-01.png | |
| exon_skip_386802_COAD_TCGA-G4-6588-01.png | |
| exon_skip_4028_COAD_TCGA-G4-6588-01.png | |
| exon_skip_434039_COAD_TCGA-G4-6588-01.png | |
| exon_skip_434040_COAD_TCGA-G4-6588-01.png | |
| exon_skip_5121_COAD_TCGA-G4-6588-01.png | |
| exon_skip_5861_COAD_TCGA-G4-6588-01.png | |
| exon_skip_68768_COAD_TCGA-G4-6588-01.png | |
| exon_skip_76742_COAD_TCGA-G4-6588-01.png | |
 | Sample: TCGA-FV-A3I1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-FV-A3I1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_434039_LIHC_TCGA-FV-A3I1-01.png | |
| exon_skip_434040_LIHC_TCGA-FV-A3I1-01.png | |
| exon_skip_6331_LIHC_TCGA-FV-A3I1-01.png | |
 | Sample: TCGA-EE-A20F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-EE-A20F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_434039_SKCM_TCGA-EE-A20F-06.png | |
| exon_skip_434040_SKCM_TCGA-EE-A20F-06.png | |
 | Sample: TCGA-CG-4442-01 |
| Cancer type: STAD | |
| ESID: exon_skip_434039 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14487839 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| Sample: TCGA-CG-4442-01 |
| Cancer type: STAD | |
| ESID: exon_skip_434040 | |
| Skipped exon start: 14487573 | |
| Skipped exon end: 14488369 | |
| Mutation start: 14487781 | |
| Mutation end: 14487781 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.H2348fs | |
| exon_skip_290005_STAD_TCGA-CG-4442-01.png | |
| exon_skip_290006_STAD_TCGA-CG-4442-01.png | |
| exon_skip_316510_STAD_TCGA-CG-4442-01.png | |
| exon_skip_316513_STAD_TCGA-CG-4442-01.png | |
| exon_skip_325884_STAD_TCGA-CG-4442-01.png | |
| exon_skip_326643_STAD_TCGA-CG-4442-01.png | |
| exon_skip_326644_STAD_TCGA-CG-4442-01.png | |
| exon_skip_326646_STAD_TCGA-CG-4442-01.png | |
| exon_skip_335781_STAD_TCGA-CG-4442-01.png | |
| exon_skip_335783_STAD_TCGA-CG-4442-01.png | |
| exon_skip_434039_STAD_TCGA-CG-4442-01.png | |
| exon_skip_434040_STAD_TCGA-CG-4442-01.png | |
| exon_skip_494000_STAD_TCGA-CG-4442-01.png | |
| exon_skip_86786_STAD_TCGA-CG-4442-01.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 |
| GP5D_LARGE_INTESTINE | 14270934 | 14271008 | 14270941 | 14270941 | Frame_Shift_Del | A | - | p.R55fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14487839 | 14487671 | 14487671 | Frame_Shift_Del | G | - | p.G2312fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14487671 | 14487671 | Frame_Shift_Del | G | - | p.G2312fs |
| HEC59_ENDOMETRIUM | 14487573 | 14487839 | 14487781 | 14487782 | Frame_Shift_Del | CC | - | p.P2350fs |
| HEC59_ENDOMETRIUM | 14487573 | 14488369 | 14487781 | 14487782 | Frame_Shift_Del | CC | - | p.P2350fs |
| GP5D_LARGE_INTESTINE | 14487573 | 14488369 | 14487869 | 14487869 | Frame_Shift_Del | C | - | p.P2379fs |
| C33A_CERVIX | 14487573 | 14488369 | 14487917 | 14487917 | Frame_Shift_Del | C | - | p.P2395fs |
| GP5D_LARGE_INTESTINE | 14487573 | 14488369 | 14488156 | 14488156 | Frame_Shift_Del | C | - | p.F2473fs |
| GP2D_LARGE_INTESTINE | 14487573 | 14488369 | 14488156 | 14488156 | Frame_Shift_Del | C | - | p.F2473fs |
| SNU1040_LARGE_INTESTINE | 14487573 | 14488369 | 14488156 | 14488156 | Frame_Shift_Del | C | - | p.F2473fs |
| TEN_ENDOMETRIUM | 14487573 | 14487839 | 14487610 | 14487611 | In_Frame_Ins | - | GGG | p.2292_2292G>GG |
| TEN_ENDOMETRIUM | 14487573 | 14488369 | 14487610 | 14487611 | In_Frame_Ins | - | GGG | p.2292_2292G>GG |
| MKN74_STOMACH | 14270934 | 14271008 | 14270969 | 14270969 | Missense_Mutation | G | T | p.V65F |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14270934 | 14271008 | 14270991 | 14270991 | Missense_Mutation | A | G | p.K72R |
| SNU719_STOMACH | 14330887 | 14331009 | 14330896 | 14330896 | Missense_Mutation | T | C | p.W581R |
| NCIH1568_LUNG | 14330887 | 14331009 | 14330912 | 14330912 | Missense_Mutation | G | A | p.G586E |
| MDAMB231_BREAST | 14330887 | 14331009 | 14330953 | 14330953 | Missense_Mutation | C | G | p.L600V |
| NCIH1770_LUNG | 14330887 | 14331009 | 14330979 | 14330979 | Missense_Mutation | A | T | p.K608N |
| NCIH2106_LUNG | 14330887 | 14331009 | 14330979 | 14330979 | Missense_Mutation | A | T | p.K608N |
| HEC108_ENDOMETRIUM | 14398989 | 14399179 | 14399106 | 14399106 | Missense_Mutation | T | C | p.M1514T |
| JHH2_LIVER | 14398989 | 14399179 | 14399163 | 14399163 | Missense_Mutation | A | G | p.Y1533C |
| KYSE520_OESOPHAGUS | 14465654 | 14465749 | 14465658 | 14465658 | Missense_Mutation | C | T | p.S1891F |
| HCC2998_LARGE_INTESTINE | 14465654 | 14465749 | 14465736 | 14465736 | Missense_Mutation | T | C | p.V1917A |
| KM12_LARGE_INTESTINE | 14479370 | 14479459 | 14479387 | 14479387 | Missense_Mutation | G | A | p.M2057I |
| ABC1_LUNG | 14479370 | 14479459 | 14479440 | 14479440 | Missense_Mutation | A | G | p.Y2075C |
| HCC2998_LARGE_INTESTINE | 14479370 | 14479459 | 14479440 | 14479440 | Missense_Mutation | A | G | p.Y2075C |
| 639V_URINARY_TRACT | 14481650 | 14481727 | 14481710 | 14481710 | Missense_Mutation | C | T | p.R2150W |
| BHY_UPPER_AERODIGESTIVE_TRACT | 14481650 | 14481727 | 14481711 | 14481711 | Missense_Mutation | G | A | p.R2150Q |
| NCIH526_LUNG | 14485178 | 14485355 | 14485201 | 14485201 | Missense_Mutation | A | C | p.E2227D |
| HCC1569_BREAST | 14485178 | 14485355 | 14485260 | 14485260 | Missense_Mutation | A | C | p.E2247A |
| HEC108_ENDOMETRIUM | 14485178 | 14485355 | 14485268 | 14485268 | Missense_Mutation | A | G | p.I2250V |
| OCUBM_BREAST | 14485178 | 14485355 | 14485296 | 14485296 | Missense_Mutation | G | T | p.R2259L |
| NCIH513_PLEURA | 14485178 | 14485355 | 14485341 | 14485341 | Missense_Mutation | G | A | p.R2274H |
| HEC151_ENDOMETRIUM | 14487573 | 14487839 | 14487623 | 14487623 | Missense_Mutation | G | A | p.G2296S |
| HEC151_ENDOMETRIUM | 14487573 | 14488369 | 14487623 | 14487623 | Missense_Mutation | G | A | p.G2296S |
| TE4_OESOPHAGUS | 14487573 | 14487839 | 14487635 | 14487635 | Missense_Mutation | G | A | p.G2300R |
| TE4_OESOPHAGUS | 14487573 | 14488369 | 14487635 | 14487635 | Missense_Mutation | G | A | p.G2300R |
| HLE_LIVER | 14487573 | 14487839 | 14487672 | 14487673 | Missense_Mutation | GG | TT | p.G2312V |
| HLE_LIVER | 14487573 | 14488369 | 14487672 | 14487673 | Missense_Mutation | GG | TT | p.G2312V |
| MEWO_SKIN | 14487573 | 14487839 | 14487786 | 14487786 | Missense_Mutation | C | T | p.P2350L |
| MEWO_SKIN | 14487573 | 14488369 | 14487786 | 14487786 | Missense_Mutation | C | T | p.P2350L |
| HCC2450_LUNG | 14487573 | 14487839 | 14487801 | 14487801 | Missense_Mutation | C | A | p.S2355Y |
| HCC2450_LUNG | 14487573 | 14488369 | 14487801 | 14487801 | Missense_Mutation | C | A | p.S2355Y |
| NCIH250_LUNG | 14487573 | 14488369 | 14487848 | 14487848 | Missense_Mutation | A | C | p.T2371P |
| EW16_BONE | 14487573 | 14488369 | 14487849 | 14487849 | Missense_Mutation | C | G | p.T2371S |
| KYSE410_OESOPHAGUS | 14487573 | 14488369 | 14487861 | 14487861 | Missense_Mutation | C | T | p.S2375F |
| KYSE410_OESOPHAGUS | 14487573 | 14488369 | 14487861 | 14487862 | Missense_Mutation | CC | TT | p.S2375F |
| NCIH2286_LUNG | 14487573 | 14488369 | 14487875 | 14487875 | Missense_Mutation | G | T | p.G2380C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14487878 | 14487878 | Missense_Mutation | G | A | p.A2381T |
| A388_SKIN | 14487573 | 14488369 | 14487909 | 14487909 | Missense_Mutation | G | A | p.S2391N |
| HEC108_ENDOMETRIUM | 14487573 | 14488369 | 14487924 | 14487924 | Missense_Mutation | G | A | p.G2396D |
| GP2D_LARGE_INTESTINE | 14487573 | 14488369 | 14488002 | 14488002 | Missense_Mutation | C | T | p.A2422V |
| GP5D_LARGE_INTESTINE | 14487573 | 14488369 | 14488002 | 14488002 | Missense_Mutation | C | T | p.A2422V |
| HEC108_ENDOMETRIUM | 14487573 | 14488369 | 14488068 | 14488068 | Missense_Mutation | T | C | p.L2444P |
| KYSE450_OESOPHAGUS | 14487573 | 14488369 | 14488070 | 14488070 | Missense_Mutation | C | T | p.P2445S |
| HEC59_ENDOMETRIUM | 14487573 | 14488369 | 14488070 | 14488070 | Missense_Mutation | C | T | p.P2445S |
| JHH7_LIVER | 14487573 | 14488369 | 14488073 | 14488073 | Missense_Mutation | C | T | p.L2446F |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14488073 | 14488073 | Missense_Mutation | C | T | p.L2446F |
| NCIH2595_PLEURA | 14487573 | 14488369 | 14488092 | 14488092 | Missense_Mutation | G | C | p.G2452A |
| KYSE270_OESOPHAGUS | 14487573 | 14488369 | 14488133 | 14488133 | Missense_Mutation | C | T | p.P2466S |
| MEWO_SKIN | 14487573 | 14488369 | 14488155 | 14488155 | Missense_Mutation | T | C | p.F2473S |
| CALU1_LUNG | 14487573 | 14488369 | 14488160 | 14488160 | Missense_Mutation | C | A | p.P2475T |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14488160 | 14488160 | Missense_Mutation | C | G | p.P2475A |
| IPC298_SKIN | 14487573 | 14488369 | 14488192 | 14488192 | Missense_Mutation | C | A | p.F2485L |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 14487573 | 14488369 | 14488248 | 14488248 | Missense_Mutation | G | T | p.G2504V |
| RH30_SOFT_TISSUE | 14487573 | 14488369 | 14488301 | 14488301 | Missense_Mutation | G | T | p.D2522Y |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 14487573 | 14488369 | 14488301 | 14488301 | Missense_Mutation | G | T | p.D2522Y |
| SJRH30_SOFT_TISSUE | 14487573 | 14488369 | 14488301 | 14488301 | Missense_Mutation | G | T | p.D2522Y |
| MDAMB231_BREAST | 14502688 | 14502766 | 14502720 | 14502720 | Missense_Mutation | A | G | p.K2789E |
| HSC1_SKIN | 14502688 | 14502766 | 14502724 | 14502724 | Missense_Mutation | A | G | p.D2790G |
| LN229_CENTRAL_NERVOUS_SYSTEM | 14502688 | 14502766 | 14502762 | 14502762 | Missense_Mutation | G | A | p.G2803S |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14504502 | 14504702 | 14504518 | 14504518 | Missense_Mutation | G | A | p.V2810I |
| SMSCTR_SOFT_TISSUE | 14504502 | 14504702 | 14504521 | 14504521 | Missense_Mutation | A | G | p.K2811E |
| NCIH2804_PLEURA | 14504502 | 14504702 | 14504593 | 14504593 | Missense_Mutation | G | A | p.D2835N |
| SKRC20_KIDNEY | 14504502 | 14504702 | 14504606 | 14504606 | Missense_Mutation | A | G | p.H2839R |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14504502 | 14504702 | 14504630 | 14504630 | Missense_Mutation | T | C | p.L2847P |
| ECC12_STOMACH | 14504502 | 14504702 | 14504650 | 14504650 | Missense_Mutation | G | A | p.G2854S |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 14504502 | 14504702 | 14504662 | 14504662 | Missense_Mutation | A | C | p.T2858P |
| HCC1395_BREAST | 14507231 | 14507369 | 14507244 | 14507244 | Missense_Mutation | C | T | p.R2876C |
| SNU1_STOMACH | 14507231 | 14507369 | 14507329 | 14507329 | Missense_Mutation | G | A | p.R2904Q |
| SNU1040_LARGE_INTESTINE | 14398989 | 14399179 | 14399069 | 14399069 | Nonsense_Mutation | C | T | p.R1502* |
| IPC298_SKIN | 14487573 | 14487839 | 14487773 | 14487773 | Nonsense_Mutation | C | T | p.R2346* |
| IPC298_SKIN | 14487573 | 14488369 | 14487773 | 14487773 | Nonsense_Mutation | C | T | p.R2346* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14488223 | 14488223 | Nonsense_Mutation | C | T | p.R2496* |
| OVK18_OVARY | 14487573 | 14488369 | 14488349 | 14488349 | Nonsense_Mutation | C | T | p.Q2538* |
| SNU1040_LARGE_INTESTINE | 14507231 | 14507369 | 14507265 | 14507265 | Nonsense_Mutation | C | T | p.R2883* |
| MZ7MEL_SKIN | 14270934 | 14271008 | 14270934 | 14270934 | Splice_Site | G | A | p.G53E |
| OVK18_OVARY | 14477003 | 14477072 | 14477003 | 14477004 | Splice_Site | - | T | p.F2029fs |
| CW2_LARGE_INTESTINE | 14477003 | 14477072 | 14477003 | 14477004 | Splice_Site | - | T | p.F2029fs |
| SNU1040_LARGE_INTESTINE | 14477003 | 14477072 | 14477003 | 14477004 | Splice_Site | - | T | p.F2029fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14487839 | 14487573 | 14487573 | Splice_Site | C | T | p.A2279V |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14487573 | 14488369 | 14487573 | 14487573 | Splice_Site | C | T | p.A2279V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRIO |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRIO |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRIO |
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RelatedDrugs for TRIO |
| 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 |
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RelatedDiseases for TRIO |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TRIO | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| TRIO | C0023903 | Liver neoplasms | 1 | CTD_human |
| TRIO | C0032927 | Precancerous Conditions | 1 | CTD_human |
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