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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 CPNE4 |
 Gene summary |
| Gene information | Gene symbol | CPNE4 | Gene ID | 131034 |
| Gene name | copine 4 | |
| Synonyms | COPN4|CPN4 | |
| Cytomap | 3q22.1 | |
| Type of gene | protein-coding | |
| Description | copine-4copine 8copine IV | |
| Modification date | 20180523 | |
| UniProtAcc | Q96A23 | |
| Context | PubMed: CPNE4 [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 CPNE4 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 CPNE4 |
| 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 CPNE4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388303 | 3 | 131253866:131254173:131261400:131261637:131268790:131268924 | 131261400:131261637 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388304 | 3 | 131271283:131271335:131274340:131274395:131283059:131283193 | 131274340:131274395 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388307 | 3 | 131274340:131274395:131283059:131283193:131293914:131293974 | 131283059:131283193 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388310 | 3 | 131300422:131300509:131306327:131306426:131388518:131388608 | 131306327:131306426 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388330 | 3 | 131388518:131388608:131404718:131404802:131415385:131415460 | 131404718:131404802 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388331 | 3 | 131404718:131404802:131415385:131415460:131418752:131418824 | 131415385:131415460 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000515418.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388335 | 3 | 131442429:131442469:131624107:131624288:131753410:131753603 | 131624107:131624288 | ENSG00000196353.7 | ENST00000512055.1,ENST00000505957.1,ENST00000429747.1,ENST00000511604.1 |
| exon_skip_388336 | 3 | 131442429:131442469:131624107:131624288:131756400:131756554 | 131624107:131624288 | ENSG00000196353.7 | ENST00000512332.1,ENST00000502818.1 |
| exon_skip_388343 | 3 | 131624107:131624288:131753410:131753603:131756400:131756563 | 131753410:131753603 | ENSG00000196353.7 | ENST00000505957.1 |
| exon_skip_388346 | 3 | 131624107:131624288:131753410:131754286:131756400:131756554 | 131753410:131754286 | ENSG00000196353.7 | ENST00000512055.1 |
| exon_skip_388348 | 3 | 131624107:131624288:131756400:131756554:131758368:131758449 | 131756400:131756554 | ENSG00000196353.7 | ENST00000512332.1 |
| exon_skip_388358 | 3 | 131756547:131756554:131758368:131758449:131759034:131759067 | 131758368:131758449 | ENSG00000196353.7 | ENST00000506687.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CPNE4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388303 | 3 | 131253866:131254173:131261400:131261637:131268790:131268924 | 131261400:131261637 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388304 | 3 | 131271283:131271335:131274340:131274395:131283059:131283193 | 131274340:131274395 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388307 | 3 | 131274340:131274395:131283059:131283193:131293914:131293974 | 131283059:131283193 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388310 | 3 | 131300422:131300509:131306327:131306426:131388518:131388608 | 131306327:131306426 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388330 | 3 | 131388518:131388608:131404718:131404802:131415385:131415460 | 131404718:131404802 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388331 | 3 | 131404718:131404802:131415385:131415460:131418752:131418824 | 131415385:131415460 | ENSG00000196353.7 | ENST00000512055.1,ENST00000515418.1,ENST00000429747.1,ENST00000512332.1,ENST00000511604.1,ENST00000502818.1 |
| exon_skip_388335 | 3 | 131442429:131442469:131624107:131624288:131753410:131753603 | 131624107:131624288 | ENSG00000196353.7 | ENST00000512055.1,ENST00000429747.1,ENST00000511604.1,ENST00000505957.1 |
| exon_skip_388336 | 3 | 131442429:131442469:131624107:131624288:131756400:131756554 | 131624107:131624288 | ENSG00000196353.7 | ENST00000512332.1,ENST00000502818.1 |
| exon_skip_388343 | 3 | 131624107:131624288:131753410:131753603:131756400:131756563 | 131753410:131753603 | ENSG00000196353.7 | ENST00000505957.1 |
| exon_skip_388346 | 3 | 131624107:131624288:131753410:131754286:131756400:131756554 | 131753410:131754286 | ENSG00000196353.7 | ENST00000512055.1 |
| exon_skip_388358 | 3 | 131756547:131756554:131758368:131758449:131759034:131759067 | 131758368:131758449 | ENSG00000196353.7 | ENST00000506687.1 |
| 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 CPNE4 |
| 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 |
| ENST00000429747 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000511604 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000512055 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000512055 | 131753410 | 131754286 | 3UTR-3UTR |
| ENST00000429747 | 131274340 | 131274395 | Frame-shift |
| ENST00000511604 | 131274340 | 131274395 | Frame-shift |
| ENST00000512055 | 131274340 | 131274395 | Frame-shift |
| ENST00000429747 | 131283059 | 131283193 | Frame-shift |
| ENST00000511604 | 131283059 | 131283193 | Frame-shift |
| ENST00000512055 | 131283059 | 131283193 | Frame-shift |
| ENST00000429747 | 131261400 | 131261637 | In-frame |
| ENST00000511604 | 131261400 | 131261637 | In-frame |
| ENST00000512055 | 131261400 | 131261637 | In-frame |
| ENST00000429747 | 131306327 | 131306426 | In-frame |
| ENST00000511604 | 131306327 | 131306426 | In-frame |
| ENST00000512055 | 131306327 | 131306426 | In-frame |
| ENST00000429747 | 131404718 | 131404802 | In-frame |
| ENST00000511604 | 131404718 | 131404802 | In-frame |
| ENST00000512055 | 131404718 | 131404802 | In-frame |
| ENST00000429747 | 131415385 | 131415460 | In-frame |
| ENST00000511604 | 131415385 | 131415460 | In-frame |
| ENST00000512055 | 131415385 | 131415460 | 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 |
| ENST00000429747 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000511604 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000512055 | 131624107 | 131624288 | 3UTR-3CDS |
| ENST00000512055 | 131753410 | 131754286 | 3UTR-3UTR |
| ENST00000429747 | 131274340 | 131274395 | Frame-shift |
| ENST00000511604 | 131274340 | 131274395 | Frame-shift |
| ENST00000512055 | 131274340 | 131274395 | Frame-shift |
| ENST00000429747 | 131283059 | 131283193 | Frame-shift |
| ENST00000511604 | 131283059 | 131283193 | Frame-shift |
| ENST00000512055 | 131283059 | 131283193 | Frame-shift |
| ENST00000429747 | 131261400 | 131261637 | In-frame |
| ENST00000511604 | 131261400 | 131261637 | In-frame |
| ENST00000512055 | 131261400 | 131261637 | In-frame |
| ENST00000429747 | 131306327 | 131306426 | In-frame |
| ENST00000511604 | 131306327 | 131306426 | In-frame |
| ENST00000512055 | 131306327 | 131306426 | In-frame |
| ENST00000429747 | 131404718 | 131404802 | In-frame |
| ENST00000511604 | 131404718 | 131404802 | In-frame |
| ENST00000512055 | 131404718 | 131404802 | In-frame |
| ENST00000429747 | 131415385 | 131415460 | In-frame |
| ENST00000511604 | 131415385 | 131415460 | In-frame |
| ENST00000512055 | 131415385 | 131415460 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CPNE4 |
| 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 |
| ENST00000429747 | 2581 | 557 | 131415385 | 131415460 | 868 | 942 | 144 | 169 |
| ENST00000511604 | 2520 | 557 | 131415385 | 131415460 | 1010 | 1084 | 144 | 169 |
| ENST00000512055 | 5448 | 557 | 131415385 | 131415460 | 2560 | 2634 | 144 | 169 |
| ENST00000429747 | 2581 | 557 | 131404718 | 131404802 | 943 | 1026 | 169 | 197 |
| ENST00000511604 | 2520 | 557 | 131404718 | 131404802 | 1085 | 1168 | 169 | 197 |
| ENST00000512055 | 5448 | 557 | 131404718 | 131404802 | 2635 | 2718 | 169 | 197 |
| ENST00000429747 | 2581 | 557 | 131306327 | 131306426 | 1117 | 1215 | 227 | 260 |
| ENST00000511604 | 2520 | 557 | 131306327 | 131306426 | 1259 | 1357 | 227 | 260 |
| ENST00000512055 | 5448 | 557 | 131306327 | 131306426 | 2809 | 2907 | 227 | 260 |
| ENST00000429747 | 2581 | 557 | 131261400 | 131261637 | 1738 | 1974 | 434 | 513 |
| ENST00000511604 | 2520 | 557 | 131261400 | 131261637 | 1880 | 2116 | 434 | 513 |
| ENST00000512055 | 5448 | 557 | 131261400 | 131261637 | 3430 | 3666 | 434 | 513 |
| 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 |
| ENST00000429747 | 2581 | 557 | 131415385 | 131415460 | 868 | 942 | 144 | 169 |
| ENST00000511604 | 2520 | 557 | 131415385 | 131415460 | 1010 | 1084 | 144 | 169 |
| ENST00000512055 | 5448 | 557 | 131415385 | 131415460 | 2560 | 2634 | 144 | 169 |
| ENST00000429747 | 2581 | 557 | 131404718 | 131404802 | 943 | 1026 | 169 | 197 |
| ENST00000511604 | 2520 | 557 | 131404718 | 131404802 | 1085 | 1168 | 169 | 197 |
| ENST00000512055 | 5448 | 557 | 131404718 | 131404802 | 2635 | 2718 | 169 | 197 |
| ENST00000429747 | 2581 | 557 | 131306327 | 131306426 | 1117 | 1215 | 227 | 260 |
| ENST00000511604 | 2520 | 557 | 131306327 | 131306426 | 1259 | 1357 | 227 | 260 |
| ENST00000512055 | 5448 | 557 | 131306327 | 131306426 | 2809 | 2907 | 227 | 260 |
| ENST00000429747 | 2581 | 557 | 131261400 | 131261637 | 1738 | 1974 | 434 | 513 |
| ENST00000511604 | 2520 | 557 | 131261400 | 131261637 | 1880 | 2116 | 434 | 513 |
| ENST00000512055 | 5448 | 557 | 131261400 | 131261637 | 3430 | 3666 | 434 | 513 |
| 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 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| 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 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 144 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 169 | 197 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 1 | 557 | Chain | ID=PRO_0000144841;Note=Copine-4 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q96A23 | 434 | 513 | 305 | 507 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
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SNVs in the skipped exons for CPNE4 |
| - 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. |
| - 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-A39Y-01 | exon_skip_388307 | 131283060 | 131283193 | 131283082 | 131283082 | Frame_Shift_Del | C | - | p.E347fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_388310 | 131306328 | 131306426 | 131306398 | 131306398 | Frame_Shift_Del | C | - | p.G237fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_388330 | 131404719 | 131404802 | 131404764 | 131404764 | Frame_Shift_Del | A | - | p.F182fs |
| LUAD | TCGA-55-8205-01 | exon_skip_388303 | 131261401 | 131261637 | 131261465 | 131261465 | Nonsense_Mutation | G | T | p.S492* |
| LUAD | TCGA-50-6594-01 | exon_skip_388307 | 131283060 | 131283193 | 131283074 | 131283074 | Nonsense_Mutation | G | T | p.C349* |
| STAD | TCGA-BR-4201-01 | exon_skip_388307 | 131283060 | 131283193 | 131283121 | 131283121 | Nonsense_Mutation | G | A | p.Q334* |
| STAD | TCGA-BR-4201-01 | exon_skip_388307 | 131283060 | 131283193 | 131283121 | 131283121 | Nonsense_Mutation | G | A | p.Q334X |
| CESC | TCGA-EA-A3QD-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R213* |
| STAD | TCGA-BR-4361-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195* |
| STAD | TCGA-BR-4361-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195X |
| STAD | TCGA-BR-A4CS-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195* |
| STAD | TCGA-BR-A4CS-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195X |
| UCS | TCGA-N5-A4RT-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195* |
| UCS | TCGA-N5-A4RT-01 | exon_skip_388330 | 131404719 | 131404802 | 131404727 | 131404727 | Nonsense_Mutation | G | A | p.R195X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH1975_LUNG | 131261401 | 131261637 | 131261427 | 131261427 | Missense_Mutation | A | G | p.F505L |
| UMC11_LUNG | 131261401 | 131261637 | 131261505 | 131261505 | Missense_Mutation | C | T | p.D479N |
| CW2_LARGE_INTESTINE | 131261401 | 131261637 | 131261574 | 131261574 | Missense_Mutation | C | T | p.A456T |
| HEC108_ENDOMETRIUM | 131261401 | 131261637 | 131261579 | 131261579 | Missense_Mutation | C | T | p.R454Q |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131261401 | 131261637 | 131261580 | 131261580 | Missense_Mutation | G | C | p.R454G |
| SNU175_LARGE_INTESTINE | 131274341 | 131274395 | 131274364 | 131274364 | Missense_Mutation | C | T | p.A365T |
| MDST8_LARGE_INTESTINE | 131283060 | 131283193 | 131283082 | 131283082 | Missense_Mutation | C | T | p.E347K |
| KM12_LARGE_INTESTINE | 131283060 | 131283193 | 131283139 | 131283139 | Missense_Mutation | G | A | p.H328Y |
| GCT_SOFT_TISSUE | 131306328 | 131306426 | 131306340 | 131306340 | Missense_Mutation | C | T | p.M256I |
| SW1417_LARGE_INTESTINE | 131306328 | 131306426 | 131306355 | 131306355 | Missense_Mutation | C | A | p.E251D |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131306328 | 131306426 | 131306410 | 131306410 | Missense_Mutation | C | A | p.W233L |
| HEC1_ENDOMETRIUM | 131404719 | 131404802 | 131404723 | 131404723 | Missense_Mutation | G | A | p.T196I |
| BEN_LUNG | 131404719 | 131404802 | 131404726 | 131404726 | Missense_Mutation | C | A | p.R195L |
| AU565_BREAST | 131404719 | 131404802 | 131404751 | 131404751 | Missense_Mutation | C | T | p.D187N |
| NCIH520_LUNG | 131415386 | 131415460 | 131415443 | 131415443 | Missense_Mutation | T | A | p.L150F |
| EN_ENDOMETRIUM | 131624108 | 131624288 | 131624118 | 131624118 | Missense_Mutation | T | A | p.Q57L |
| NCIH2135_LUNG | 131624108 | 131624288 | 131624151 | 131624152 | Missense_Mutation | GG | TT | p.P46N |
| 639V_URINARY_TRACT | 131624108 | 131624288 | 131624196 | 131624196 | Missense_Mutation | G | A | p.A31V |
| CP66MEL_SKIN | 131624108 | 131624288 | 131624209 | 131624209 | Missense_Mutation | C | T | p.E27K |
| NCIH2087_LUNG | 131261401 | 131261637 | 131261632 | 131261632 | Nonsense_Mutation | G | T | p.Y436* |
| TE9_OESOPHAGUS | 131306328 | 131306426 | 131306410 | 131306410 | Nonsense_Mutation | C | T | p.W233* |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131274341 | 131274395 | 131274341 | 131274341 | Splice_Site | C | T | p.T372T |
| NCIH2172_LUNG | 131283060 | 131283193 | 131283060 | 131283060 | Splice_Site | C | T | p.S354N |
| MCC13_SKIN | 131404719 | 131404802 | 131404802 | 131404802 | Splice_Site | C | T | p.D170N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPNE4 |
| 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 CPNE4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPNE4 |
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RelatedDrugs for CPNE4 |
| 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 CPNE4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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