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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 CDH17 |
 Gene summary |
| Gene information | Gene symbol | CDH17 | Gene ID | 1015 |
| Gene name | cadherin 17 | |
| Synonyms | CDH16|HPT-1|HPT1 | |
| Cytomap | 8q22.1 | |
| Type of gene | protein-coding | |
| Description | cadherin-17HPT-1 cadherinLI cadherincadherin 17, LI cadherin (liver-intestine)cadherin-16human intestinal peptide-associated transporter HPT-1human peptide transporter 1intestinal peptide-associated transporter HPT-1liver-intestine cadherin | |
| Modification date | 20180523 | |
| UniProtAcc | Q12864 | |
| Context | PubMed: CDH17 [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 CDH17 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 CDH17 |
| 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 CDH17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490894 | 8 | 95140467:95140568:95142853:95142967:95143103:95143220 | 95142853:95142967 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490895 | 8 | 95140467:95140568:95143103:95143220:95158155:95158395 | 95143103:95143220 | ENSG00000079112.5 | ENST00000441892.2 |
| exon_skip_490897 | 8 | 95143103:95143220:95158155:95158395:95160971:95161102 | 95158155:95158395 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2,ENST00000441892.2 |
| exon_skip_490901 | 8 | 95160971:95161102:95164095:95164340:95172198:95172390 | 95164095:95164340 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2,ENST00000441892.2 |
| exon_skip_490905 | 8 | 95182624:95182775:95183081:95183213:95186024:95186224 | 95183081:95183213 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490908 | 8 | 95183081:95183213:95186024:95186224:95186329:95186488 | 95186024:95186224 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490913 | 8 | 95186024:95186224:95186329:95186488:95188768:95188907 | 95186329:95186488 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490915 | 8 | 95201414:95201513:95206862:95206933:95220710:95220783 | 95206862:95206933 | ENSG00000079112.5 | ENST00000441892.2 |
| exon_skip_490916 | 8 | 95206862:95206933:95209457:95209559:95220710:95220783 | 95209457:95209559 | ENSG00000079112.5 | ENST00000521491.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDH17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490894 | 8 | 95140467:95140568:95142853:95142967:95143103:95143220 | 95142853:95142967 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490895 | 8 | 95140467:95140568:95143103:95143220:95158155:95158395 | 95143103:95143220 | ENSG00000079112.5 | ENST00000441892.2 |
| exon_skip_490897 | 8 | 95143103:95143220:95158155:95158395:95160971:95161102 | 95158155:95158395 | ENSG00000079112.5 | ENST00000027335.3,ENST00000441892.2,ENST00000450165.2 |
| exon_skip_490901 | 8 | 95160971:95161102:95164095:95164340:95172198:95172390 | 95164095:95164340 | ENSG00000079112.5 | ENST00000027335.3,ENST00000441892.2,ENST00000450165.2 |
| exon_skip_490905 | 8 | 95182624:95182775:95183081:95183213:95186024:95186224 | 95183081:95183213 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490908 | 8 | 95183081:95183213:95186024:95186224:95186329:95186488 | 95186024:95186224 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490913 | 8 | 95186024:95186224:95186329:95186488:95188768:95188907 | 95186329:95186488 | ENSG00000079112.5 | ENST00000027335.3,ENST00000450165.2 |
| exon_skip_490915 | 8 | 95201414:95201513:95206862:95206933:95220710:95220783 | 95206862:95206933 | ENSG00000079112.5 | ENST00000441892.2 |
| exon_skip_490916 | 8 | 95206862:95206933:95209457:95209559:95220710:95220783 | 95209457:95209559 | ENSG00000079112.5 | ENST00000521491.1 |
| 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 CDH17 |
| 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 |
| ENST00000027335 | 95164095 | 95164340 | Frame-shift |
| ENST00000450165 | 95164095 | 95164340 | Frame-shift |
| ENST00000027335 | 95186024 | 95186224 | Frame-shift |
| ENST00000450165 | 95186024 | 95186224 | Frame-shift |
| ENST00000027335 | 95142853 | 95142967 | In-frame |
| ENST00000450165 | 95142853 | 95142967 | In-frame |
| ENST00000027335 | 95158155 | 95158395 | In-frame |
| ENST00000450165 | 95158155 | 95158395 | In-frame |
| ENST00000027335 | 95183081 | 95183213 | In-frame |
| ENST00000450165 | 95183081 | 95183213 | In-frame |
| ENST00000027335 | 95186329 | 95186488 | In-frame |
| ENST00000450165 | 95186329 | 95186488 | 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 |
| ENST00000027335 | 95164095 | 95164340 | Frame-shift |
| ENST00000450165 | 95164095 | 95164340 | Frame-shift |
| ENST00000027335 | 95186024 | 95186224 | Frame-shift |
| ENST00000450165 | 95186024 | 95186224 | Frame-shift |
| ENST00000027335 | 95142853 | 95142967 | In-frame |
| ENST00000450165 | 95142853 | 95142967 | In-frame |
| ENST00000027335 | 95158155 | 95158395 | In-frame |
| ENST00000450165 | 95158155 | 95158395 | In-frame |
| ENST00000027335 | 95183081 | 95183213 | In-frame |
| ENST00000450165 | 95183081 | 95183213 | In-frame |
| ENST00000027335 | 95186329 | 95186488 | In-frame |
| ENST00000450165 | 95186329 | 95186488 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CDH17 |
| 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 |
| ENST00000027335 | 3710 | 832 | 95186329 | 95186488 | 550 | 708 | 141 | 194 |
| ENST00000450165 | 2642 | 832 | 95186329 | 95186488 | 551 | 709 | 141 | 194 |
| ENST00000027335 | 3710 | 832 | 95183081 | 95183213 | 909 | 1040 | 261 | 305 |
| ENST00000450165 | 2642 | 832 | 95183081 | 95183213 | 910 | 1041 | 261 | 305 |
| ENST00000027335 | 3710 | 832 | 95158155 | 95158395 | 2053 | 2292 | 642 | 722 |
| ENST00000450165 | 2642 | 832 | 95158155 | 95158395 | 2054 | 2293 | 642 | 722 |
| ENST00000027335 | 3710 | 832 | 95142853 | 95142967 | 2410 | 2523 | 761 | 799 |
| ENST00000450165 | 2642 | 832 | 95142853 | 95142967 | 2411 | 2524 | 761 | 799 |
| 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 |
| ENST00000027335 | 3710 | 832 | 95186329 | 95186488 | 550 | 708 | 141 | 194 |
| ENST00000450165 | 2642 | 832 | 95186329 | 95186488 | 551 | 709 | 141 | 194 |
| ENST00000027335 | 3710 | 832 | 95183081 | 95183213 | 909 | 1040 | 261 | 305 |
| ENST00000450165 | 2642 | 832 | 95183081 | 95183213 | 910 | 1041 | 261 | 305 |
| ENST00000027335 | 3710 | 832 | 95158155 | 95158395 | 2053 | 2292 | 642 | 722 |
| ENST00000450165 | 2642 | 832 | 95158155 | 95158395 | 2054 | 2293 | 642 | 722 |
| ENST00000027335 | 3710 | 832 | 95142853 | 95142967 | 2410 | 2523 | 761 | 799 |
| ENST00000450165 | 2642 | 832 | 95142853 | 95142967 | 2411 | 2524 | 761 | 799 |
| 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 |
| Q12864 | 141 | 194 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 141 | 194 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 141 | 194 | 129 | 244 | Domain | Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 141 | 194 | 129 | 244 | Domain | Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 141 | 194 | 149 | 149 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 149 | 149 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 184 | 184 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 184 | 184 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 261 | 305 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 261 | 305 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 261 | 305 | 245 | 340 | Domain | Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 261 | 305 | 245 | 340 | Domain | Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 261 | 305 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 261 | 305 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 642 | 722 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 642 | 722 | 567 | 667 | Domain | Note=Cadherin 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 567 | 667 | Domain | Note=Cadherin 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 722 | 722 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 722 | 722 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 761 | 799 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 761 | 799 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 761 | 799 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 761 | 799 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 788 | 808 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 788 | 808 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q12864 | 141 | 194 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 141 | 194 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 141 | 194 | 129 | 244 | Domain | Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 141 | 194 | 129 | 244 | Domain | Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 141 | 194 | 149 | 149 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 149 | 149 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 184 | 184 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 184 | 184 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 141 | 194 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 261 | 305 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 261 | 305 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 261 | 305 | 245 | 340 | Domain | Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 261 | 305 | 245 | 340 | Domain | Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 261 | 305 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 261 | 305 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 642 | 722 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 642 | 722 | 567 | 667 | Domain | Note=Cadherin 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 567 | 667 | Domain | Note=Cadherin 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 642 | 722 | 722 | 722 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 722 | 722 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 642 | 722 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 761 | 799 | 23 | 832 | Chain | ID=PRO_0000003812;Note=Cadherin-17 |
| Q12864 | 761 | 799 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 761 | 799 | 668 | 777 | Domain | Note=Cadherin 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q12864 | 761 | 799 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 23 | 787 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 788 | 808 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12864 | 761 | 799 | 788 | 808 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CDH17 |
| - 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. |
CDH17_COAD_exon_skip_490897_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-DD-A1EG-01 | exon_skip_490897 | 95158156 | 95158395 | 95158162 | 95158162 | Frame_Shift_Del | T | - | p.I721fs |
| LUAD | TCGA-69-A59K-01 | exon_skip_490897 | 95158156 | 95158395 | 95158285 | 95158285 | Frame_Shift_Del | G | - | p.L680fs |
| COAD | TCGA-D5-6540-01 | exon_skip_490897 | 95158156 | 95158395 | 95158391 | 95158391 | Frame_Shift_Del | C | - | p.S645fs |
| KIRP | TCGA-BQ-7058-01 | exon_skip_490897 | 95158156 | 95158395 | 95158391 | 95158391 | Frame_Shift_Del | C | - | p.G644fs |
| KIRP | TCGA-BQ-7058-01 | exon_skip_490897 | 95158156 | 95158395 | 95158391 | 95158391 | Frame_Shift_Del | C | - | p.S645fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490905 | 95183082 | 95183213 | 95183144 | 95183144 | Frame_Shift_Del | A | - | p.S285fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490905 | 95183082 | 95183213 | 95183196 | 95183196 | Frame_Shift_Del | G | - | p.P267fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490913 | 95186330 | 95186488 | 95186357 | 95186357 | Frame_Shift_Del | T | - | p.T186fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_490913 | 95186330 | 95186488 | 95186357 | 95186357 | Frame_Shift_Del | T | - | p.T186fs |
| STAD | TCGA-BR-4184-01 | exon_skip_490913 | 95186330 | 95186488 | 95186357 | 95186357 | Frame_Shift_Del | T | - | p.T186fs |
| BLCA | TCGA-GC-A6I3-01 | exon_skip_490901 | 95164096 | 95164340 | 95164112 | 95164112 | Nonsense_Mutation | C | A | p.E594* |
| LGG | TCGA-DU-6392-01 | exon_skip_490905 | 95183082 | 95183213 | 95183096 | 95183096 | Nonsense_Mutation | C | A | p.E301* |
| PRAD | TCGA-G9-6342-01 | exon_skip_490905 | 95183082 | 95183213 | 95183129 | 95183129 | Nonsense_Mutation | C | A | p.G290* |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_490908 | 95186025 | 95186224 | 95186159 | 95186159 | Nonsense_Mutation | C | A | p.G217* |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_490908 | 95186025 | 95186224 | 95186187 | 95186187 | Nonsense_Mutation | A | T | p.Y207* |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_490908 | 95186025 | 95186224 | 95186219 | 95186219 | Nonsense_Mutation | G | A | p.Q197* |
| STAD | TCGA-CD-5813-01 | exon_skip_490913 | 95186330 | 95186488 | 95186360 | 95186360 | Nonsense_Mutation | T | A | p.K185* |
| STAD | TCGA-CD-5813-01 | exon_skip_490913 | 95186330 | 95186488 | 95186360 | 95186360 | Nonsense_Mutation | T | A | p.K185X |
| STAD | TCGA-BR-4191-01 | exon_skip_490913 | 95186330 | 95186488 | 95186418 | 95186418 | Nonsense_Mutation | G | C | p.Y165* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D5-6540-01 |
| Cancer type: COAD | |
| ESID: exon_skip_490897 | |
| Skipped exon start: 95158156 | |
| Skipped exon end: 95158395 | |
| Mutation start: 95158391 | |
| Mutation end: 95158391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S645fs | |
exon_skip_149086_COAD_TCGA-D5-6540-01.png | |
exon_skip_32368_COAD_TCGA-D5-6540-01.png | |
exon_skip_32369_COAD_TCGA-D5-6540-01.png | |
exon_skip_366741_COAD_TCGA-D5-6540-01.png | |
exon_skip_4028_COAD_TCGA-D5-6540-01.png | |
exon_skip_421552_COAD_TCGA-D5-6540-01.png | |
exon_skip_460550_COAD_TCGA-D5-6540-01.png | |
exon_skip_462427_COAD_TCGA-D5-6540-01.png | |
exon_skip_490897_COAD_TCGA-D5-6540-01.png | |
exon_skip_57346_COAD_TCGA-D5-6540-01.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 |
| KYAE1_OESOPHAGUS | 95186025 | 95186224 | 95186089 | 95186097 | In_Frame_Del | TTCCAAATA | - | p.NIW237del |
| MDST8_LARGE_INTESTINE | 95142854 | 95142967 | 95142911 | 95142911 | Missense_Mutation | C | T | p.G781R |
| EPLC272H_LUNG | 95142854 | 95142967 | 95142944 | 95142944 | Missense_Mutation | C | G | p.G770R |
| C3A_LIVER | 95142854 | 95142967 | 95142955 | 95142955 | Missense_Mutation | C | G | p.S766T |
| SNUC5_LARGE_INTESTINE | 95158156 | 95158395 | 95158167 | 95158167 | Missense_Mutation | G | T | p.S719Y |
| NCIH820_LUNG | 95158156 | 95158395 | 95158213 | 95158213 | Missense_Mutation | T | C | p.T704A |
| HUH1_LIVER | 95158156 | 95158395 | 95158214 | 95158214 | Missense_Mutation | A | T | p.F703L |
| NCIH1573_LUNG | 95158156 | 95158395 | 95158256 | 95158256 | Missense_Mutation | C | A | p.E689D |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 95158156 | 95158395 | 95158369 | 95158369 | Missense_Mutation | C | G | p.E652Q |
| HCT15_LARGE_INTESTINE | 95158156 | 95158395 | 95158392 | 95158392 | Missense_Mutation | C | T | p.G644E |
| NCIH322_LUNG | 95164096 | 95164340 | 95164115 | 95164115 | Missense_Mutation | G | T | p.P593T |
| SARC9371_BONE | 95164096 | 95164340 | 95164115 | 95164115 | Missense_Mutation | G | A | p.P593S |
| HEC59_ENDOMETRIUM | 95164096 | 95164340 | 95164139 | 95164139 | Missense_Mutation | C | T | p.V585M |
| HCC2998_LARGE_INTESTINE | 95164096 | 95164340 | 95164141 | 95164141 | Missense_Mutation | T | G | p.K584T |
| KPNRTBM1_AUTONOMIC_GANGLIA | 95164096 | 95164340 | 95164217 | 95164217 | Missense_Mutation | C | T | p.D559N |
| IM95_STOMACH | 95164096 | 95164340 | 95164217 | 95164217 | Missense_Mutation | C | T | p.D559N |
| NCIH1155_LUNG | 95164096 | 95164340 | 95164294 | 95164294 | Missense_Mutation | G | A | p.A533V |
| COLO794_SKIN | 95164096 | 95164340 | 95164334 | 95164334 | Missense_Mutation | C | T | p.D520N |
| COLO800_SKIN | 95164096 | 95164340 | 95164334 | 95164334 | Missense_Mutation | C | T | p.D520N |
| NCIH345_LUNG | 95183082 | 95183213 | 95183137 | 95183137 | Missense_Mutation | T | G | p.D287A |
| TE9_OESOPHAGUS | 95183082 | 95183213 | 95183201 | 95183201 | Missense_Mutation | C | A | p.D266Y |
| UMC11_LUNG | 95186025 | 95186224 | 95186030 | 95186030 | Missense_Mutation | T | A | p.T260S |
| KM12_LARGE_INTESTINE | 95186025 | 95186224 | 95186066 | 95186066 | Missense_Mutation | C | T | p.V248M |
| HT1197_URINARY_TRACT | 95186025 | 95186224 | 95186140 | 95186140 | Missense_Mutation | G | A | p.S223F |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95186330 | 95186488 | 95186356 | 95186356 | Missense_Mutation | G | A | p.T186M |
| LN405_CENTRAL_NERVOUS_SYSTEM | 95186330 | 95186488 | 95186356 | 95186356 | Missense_Mutation | G | A | p.T186M |
| NCIH2172_LUNG | 95186330 | 95186488 | 95186395 | 95186395 | Missense_Mutation | A | T | p.M173K |
| CAL148_BREAST | 95186330 | 95186488 | 95186459 | 95186459 | Missense_Mutation | C | A | p.D152Y |
| MKN74_STOMACH | 95186330 | 95186488 | 95186465 | 95186465 | Missense_Mutation | C | T | p.A150T |
| MKN28_STOMACH | 95186330 | 95186488 | 95186465 | 95186465 | Missense_Mutation | C | T | p.A150T |
| A431_SKIN | 95206863 | 95206933 | 95206904 | 95206904 | Nonsense_Mutation | G | A | p.Q4* |
| DU145_PROSTATE | 95158156 | 95158395 | 95158157 | 95158157 | Splice_Site | A | G | p.N722N |
| WM88_SKIN | 95164096 | 95164340 | 95164096 | 95164096 | Splice_Site | C | T | p.S599N |
| CHL1_SKIN | 95186025 | 95186224 | 95186224 | 95186224 | Splice_Site | C | A | p.G195V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDH17 |
| 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 CDH17 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDH17 |
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RelatedDrugs for CDH17 |
| 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 CDH17 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CDH17 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| CDH17 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| CDH17 | C0264423 | Asthma, Occupational | 1 | CTD_human |
| CDH17 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| CDH17 | C1839839 | MAJOR AFFECTIVE DISORDER 2 | 1 | PSYGENET |
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