|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for CPNE2 |
 Gene summary |
| Gene information | Gene symbol | CPNE2 | Gene ID | 221184 |
| Gene name | copine 2 | |
| Synonyms | COPN2|CPN2 | |
| Cytomap | 16q13 | |
| Type of gene | protein-coding | |
| Description | copine-2copine II | |
| Modification date | 20180523 | |
| UniProtAcc | Q96FN4 | |
| Context | PubMed: CPNE2 [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 |
Top |
Exon skipping events across known transcript of Ensembl for CPNE2 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. |
 |
Top |
Gene isoform structures and expression levels for CPNE2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CPNE2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136892 | 16 | 57126518:57126702:57127861:57128003:57144619:57144834 | 57127861:57128003 | ENSG00000140848.12 | ENST00000535318.2 |
| exon_skip_136894 | 16 | 57126518:57126702:57144619:57144834:57147199:57147264 | 57144619:57144834 | ENSG00000140848.12 | ENST00000537605.1 |
| exon_skip_136897 | 16 | 57144619:57144834:57147199:57147379:57149387:57149462 | 57147199:57147379 | ENSG00000140848.12 | ENST00000535318.2,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136899 | 16 | 57149387:57149462:57151407:57151479:57153106:57153190 | 57151407:57151479 | ENSG00000140848.12 | ENST00000535318.2,ENST00000567487.1,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136902 | 16 | 57153110:57153190:57153472:57153562:57155004:57155103 | 57153472:57153562 | ENSG00000140848.12 | ENST00000535318.2,ENST00000565766.1,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136904 | 16 | 57153472:57153562:57155004:57155103:57155585:57155672 | 57155004:57155103 | ENSG00000140848.12 | ENST00000535318.2,ENST00000565766.1,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136908 | 16 | 57157325:57157385:57159188:57159275:57159771:57159905 | 57159188:57159275 | ENSG00000140848.12 | ENST00000565766.1 |
| exon_skip_136909 | 16 | 57157325:57157385:57159771:57159905:57161760:57161815 | 57159771:57159905 | ENSG00000140848.12 | ENST00000535318.2,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136912 | 16 | 57159771:57159905:57161760:57161815:57168686:57168738 | 57161760:57161815 | ENSG00000140848.12 | ENST00000535318.2,ENST00000565766.1,ENST00000290776.8,ENST00000566042.1,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136914 | 16 | 57161760:57161815:57168686:57168738:57171060:57171160 | 57168686:57168738 | ENSG00000140848.12 | ENST00000535318.2,ENST00000565766.1,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| exon_skip_136915 | 16 | 57161760:57161815:57168686:57168738:57179996:57180233 | 57168686:57168738 | ENSG00000140848.12 | ENST00000566042.1 |
| exon_skip_136935 | 16 | 57168686:57168738:57171060:57171194:57179996:57180233 | 57171060:57171194 | ENSG00000140848.12 | ENST00000535318.2,ENST00000566910.1,ENST00000290776.8,ENST00000537605.1,ENST00000565874.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CPNE2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136892 | 16 | 57126518:57126702:57127861:57128003:57144619:57144834 | 57127861:57128003 | ENSG00000140848.12 | ENST00000535318.2 |
| exon_skip_136894 | 16 | 57126518:57126702:57144619:57144834:57147199:57147264 | 57144619:57144834 | ENSG00000140848.12 | ENST00000537605.1 |
| exon_skip_136897 | 16 | 57144619:57144834:57147199:57147379:57149387:57149462 | 57147199:57147379 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1 |
| exon_skip_136899 | 16 | 57149387:57149462:57151407:57151479:57153106:57153190 | 57151407:57151479 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000567487.1 |
| exon_skip_136902 | 16 | 57153110:57153190:57153472:57153562:57155004:57155103 | 57153472:57153562 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000565766.1 |
| exon_skip_136904 | 16 | 57153472:57153562:57155004:57155103:57155585:57155672 | 57155004:57155103 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000565766.1 |
| exon_skip_136908 | 16 | 57157325:57157385:57159188:57159275:57159771:57159905 | 57159188:57159275 | ENSG00000140848.12 | ENST00000565766.1 |
| exon_skip_136909 | 16 | 57157325:57157385:57159771:57159905:57161760:57161815 | 57159771:57159905 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1 |
| exon_skip_136912 | 16 | 57159771:57159905:57161760:57161815:57168686:57168738 | 57161760:57161815 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000565766.1,ENST00000566042.1 |
| exon_skip_136914 | 16 | 57161760:57161815:57168686:57168738:57171060:57171160 | 57168686:57168738 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000565766.1 |
| exon_skip_136915 | 16 | 57161760:57161815:57168686:57168738:57179996:57180233 | 57168686:57168738 | ENSG00000140848.12 | ENST00000566042.1 |
| exon_skip_136935 | 16 | 57168686:57168738:57171060:57171194:57179996:57180233 | 57171060:57171194 | ENSG00000140848.12 | ENST00000290776.8,ENST00000537605.1,ENST00000535318.2,ENST00000565874.1,ENST00000566910.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CPNE2 |
| 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 |
| ENST00000535318 | 57127861 | 57128003 | 5UTR-5UTR |
| ENST00000290776 | 57159771 | 57159905 | Frame-shift |
| ENST00000535318 | 57159771 | 57159905 | Frame-shift |
| ENST00000565874 | 57159771 | 57159905 | Frame-shift |
| ENST00000290776 | 57161760 | 57161815 | Frame-shift |
| ENST00000535318 | 57161760 | 57161815 | Frame-shift |
| ENST00000565874 | 57161760 | 57161815 | Frame-shift |
| ENST00000290776 | 57168686 | 57168738 | Frame-shift |
| ENST00000535318 | 57168686 | 57168738 | Frame-shift |
| ENST00000565874 | 57168686 | 57168738 | Frame-shift |
| ENST00000290776 | 57171060 | 57171194 | Frame-shift |
| ENST00000535318 | 57171060 | 57171194 | Frame-shift |
| ENST00000565874 | 57171060 | 57171194 | Frame-shift |
| ENST00000290776 | 57147199 | 57147379 | In-frame |
| ENST00000535318 | 57147199 | 57147379 | In-frame |
| ENST00000565874 | 57147199 | 57147379 | In-frame |
| ENST00000290776 | 57151407 | 57151479 | In-frame |
| ENST00000535318 | 57151407 | 57151479 | In-frame |
| ENST00000565874 | 57151407 | 57151479 | In-frame |
| ENST00000290776 | 57153472 | 57153562 | In-frame |
| ENST00000535318 | 57153472 | 57153562 | In-frame |
| ENST00000565874 | 57153472 | 57153562 | In-frame |
| ENST00000290776 | 57155004 | 57155103 | In-frame |
| ENST00000535318 | 57155004 | 57155103 | In-frame |
| ENST00000565874 | 57155004 | 57155103 | 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 |
| ENST00000535318 | 57127861 | 57128003 | 5UTR-5UTR |
| ENST00000290776 | 57159771 | 57159905 | Frame-shift |
| ENST00000535318 | 57159771 | 57159905 | Frame-shift |
| ENST00000565874 | 57159771 | 57159905 | Frame-shift |
| ENST00000290776 | 57161760 | 57161815 | Frame-shift |
| ENST00000535318 | 57161760 | 57161815 | Frame-shift |
| ENST00000565874 | 57161760 | 57161815 | Frame-shift |
| ENST00000290776 | 57168686 | 57168738 | Frame-shift |
| ENST00000535318 | 57168686 | 57168738 | Frame-shift |
| ENST00000565874 | 57168686 | 57168738 | Frame-shift |
| ENST00000290776 | 57171060 | 57171194 | Frame-shift |
| ENST00000535318 | 57171060 | 57171194 | Frame-shift |
| ENST00000565874 | 57171060 | 57171194 | Frame-shift |
| ENST00000290776 | 57147199 | 57147379 | In-frame |
| ENST00000535318 | 57147199 | 57147379 | In-frame |
| ENST00000565874 | 57147199 | 57147379 | In-frame |
| ENST00000290776 | 57151407 | 57151479 | In-frame |
| ENST00000535318 | 57151407 | 57151479 | In-frame |
| ENST00000565874 | 57151407 | 57151479 | In-frame |
| ENST00000290776 | 57153472 | 57153562 | In-frame |
| ENST00000535318 | 57153472 | 57153562 | In-frame |
| ENST00000565874 | 57153472 | 57153562 | In-frame |
| ENST00000290776 | 57155004 | 57155103 | In-frame |
| ENST00000535318 | 57155004 | 57155103 | In-frame |
| ENST00000565874 | 57155004 | 57155103 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CPNE2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000290776 | 2261 | 548 | 57147199 | 57147379 | 470 | 649 | 60 | 120 |
| ENST00000535318 | 2333 | 548 | 57147199 | 57147379 | 542 | 721 | 60 | 120 |
| ENST00000565874 | 1993 | 548 | 57147199 | 57147379 | 373 | 552 | 60 | 120 |
| ENST00000290776 | 2261 | 548 | 57151407 | 57151479 | 725 | 796 | 145 | 169 |
| ENST00000535318 | 2333 | 548 | 57151407 | 57151479 | 797 | 868 | 145 | 169 |
| ENST00000565874 | 1993 | 548 | 57151407 | 57151479 | 628 | 699 | 145 | 169 |
| ENST00000290776 | 2261 | 548 | 57153472 | 57153562 | 881 | 970 | 197 | 227 |
| ENST00000535318 | 2333 | 548 | 57153472 | 57153562 | 953 | 1042 | 197 | 227 |
| ENST00000565874 | 1993 | 548 | 57153472 | 57153562 | 784 | 873 | 197 | 227 |
| ENST00000290776 | 2261 | 548 | 57155004 | 57155103 | 971 | 1069 | 227 | 260 |
| ENST00000535318 | 2333 | 548 | 57155004 | 57155103 | 1043 | 1141 | 227 | 260 |
| ENST00000565874 | 1993 | 548 | 57155004 | 57155103 | 874 | 972 | 227 | 260 |
| 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 |
| ENST00000290776 | 2261 | 548 | 57147199 | 57147379 | 470 | 649 | 60 | 120 |
| ENST00000535318 | 2333 | 548 | 57147199 | 57147379 | 542 | 721 | 60 | 120 |
| ENST00000565874 | 1993 | 548 | 57147199 | 57147379 | 373 | 552 | 60 | 120 |
| ENST00000290776 | 2261 | 548 | 57151407 | 57151479 | 725 | 796 | 145 | 169 |
| ENST00000535318 | 2333 | 548 | 57151407 | 57151479 | 797 | 868 | 145 | 169 |
| ENST00000565874 | 1993 | 548 | 57151407 | 57151479 | 628 | 699 | 145 | 169 |
| ENST00000290776 | 2261 | 548 | 57153472 | 57153562 | 881 | 970 | 197 | 227 |
| ENST00000535318 | 2333 | 548 | 57153472 | 57153562 | 953 | 1042 | 197 | 227 |
| ENST00000565874 | 1993 | 548 | 57153472 | 57153562 | 784 | 873 | 197 | 227 |
| ENST00000290776 | 2261 | 548 | 57155004 | 57155103 | 971 | 1069 | 227 | 260 |
| ENST00000535318 | 2333 | 548 | 57155004 | 57155103 | 1043 | 1141 | 227 | 260 |
| ENST00000565874 | 1993 | 548 | 57155004 | 57155103 | 874 | 972 | 227 | 260 |
| 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 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
| 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 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 102 | Alternative sequence | ID=VSP_055536;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 10 | 115 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 60 | 120 | 100 | 100 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 145 | 169 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 197 | 227 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 1 | 548 | Chain | ID=PRO_0000144836;Note=Copine-2 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 141 | 246 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
| Q96FN4 | 227 | 260 | 247 | 304 | Region | Note=Linker region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P59108 |
Top |
SNVs in the skipped exons for CPNE2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-G3-A3CJ-01 | exon_skip_136894 | 57144620 | 57144834 | 57144690 | 57144690 | Frame_Shift_Del | G | - | p.A12fs |
| HNSC | TCGA-CV-6960-01 | exon_skip_136894 | 57144620 | 57144834 | 57144698 | 57144698 | Frame_Shift_Del | C | - | p.A15fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_136894 | 57144620 | 57144834 | 57144698 | 57144698 | Frame_Shift_Del | C | - | p.A15fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_136894 | 57144620 | 57144834 | 57144698 | 57144698 | Frame_Shift_Del | C | - | p.A15fs |
| KIRP | TCGA-5P-A9JY-01 | 57147200 | 57147379 | 57147302 | 57147317 | Frame_Shift_Del | CTCTTTGACCAGGACA | - | p.94_99del | |
| BLCA | TCGA-UY-A8OB-01 | exon_skip_136902 | 57153473 | 57153562 | 57153531 | 57153532 | Frame_Shift_Del | TG | - | p.L217fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_136935 | 57171061 | 57171194 | 57171133 | 57171133 | Frame_Shift_Del | C | - | p.S414fs |
| - 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 |
| SW48_LARGE_INTESTINE | 57144620 | 57144834 | 57144721 | 57144721 | Missense_Mutation | G | A | p.V23M |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57144620 | 57144834 | 57144721 | 57144721 | Missense_Mutation | G | A | p.V23M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57144620 | 57144834 | 57144748 | 57144748 | Missense_Mutation | G | A | p.G32S |
| ETK1_BILIARY_TRACT | 57147200 | 57147379 | 57147212 | 57147212 | Missense_Mutation | G | A | p.E65K |
| SNU1040_LARGE_INTESTINE | 57147200 | 57147379 | 57147218 | 57147218 | Missense_Mutation | G | A | p.A67T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57147200 | 57147379 | 57147239 | 57147239 | Missense_Mutation | G | A | p.A74T |
| SNU1040_LARGE_INTESTINE | 57147200 | 57147379 | 57147309 | 57147309 | Missense_Mutation | A | G | p.D97G |
| ASPC1_PANCREAS | 57147200 | 57147379 | 57147327 | 57147327 | Missense_Mutation | T | C | p.M103T |
| LK2_LUNG | 57151408 | 57151479 | 57151415 | 57151415 | Missense_Mutation | C | T | p.A148V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57151408 | 57151479 | 57151415 | 57151415 | Missense_Mutation | C | T | p.A148V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57151408 | 57151479 | 57151439 | 57151439 | Missense_Mutation | T | C | p.V156A |
| SKHEP1_LIVER | 57153473 | 57153562 | 57153547 | 57153547 | Missense_Mutation | G | A | p.M222I |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 57155005 | 57155103 | 57155021 | 57155021 | Missense_Mutation | A | C | p.Y233S |
| KYSE520_OESOPHAGUS | 57155005 | 57155103 | 57155096 | 57155096 | Missense_Mutation | G | C | p.S258T |
| MDAMB435S_SKIN | 57168687 | 57168738 | 57168726 | 57168726 | Missense_Mutation | C | T | p.P386S |
| SKMEL2_SKIN | 57171061 | 57171194 | 57171117 | 57171117 | Missense_Mutation | G | A | p.G409S |
| ABC1_LUNG | 57171061 | 57171194 | 57171163 | 57171163 | Missense_Mutation | C | T | p.A424V |
| CALU3_LUNG | 57171061 | 57171194 | 57171165 | 57171165 | Missense_Mutation | G | A | p.A425T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPNE2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPNE2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPNE2 |
Top |
RelatedDrugs for CPNE2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CPNE2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|