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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 CPNE3 |
 Gene summary |
| Gene information | Gene symbol | CPNE3 | Gene ID | 8895 |
| Gene name | copine 3 | |
| Synonyms | CPN3|PRO1071 | |
| Cytomap | 8q21.3 | |
| Type of gene | protein-coding | |
| Description | copine-3copine III | |
| Modification date | 20180523 | |
| UniProtAcc | O75131 | |
| Context | PubMed: CPNE3 [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 |
| CPNE3 | GO:0038128 | ERBB2 signaling pathway | 20010870 |
| CPNE3 | GO:0071277 | cellular response to calcium ion | 20010870|21087455 |
| CPNE3 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
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Exon skipping events across known transcript of Ensembl for CPNE3 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 CPNE3 |
| 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 CPNE3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484402 | 8 | 87526731:87526769:87527689:87527727:87537104:87537225 | 87527689:87527727 | ENSG00000085719.7 | ENST00000523001.1 |
| exon_skip_484403 | 8 | 87526731:87526769:87527689:87527727:87540763:87540799 | 87527689:87527727 | ENSG00000085719.7 | ENST00000521271.1 |
| exon_skip_484405 | 8 | 87527689:87527727:87533831:87533942:87540763:87540799 | 87533831:87533942 | ENSG00000085719.7 | ENST00000523469.1 |
| exon_skip_484408 | 8 | 87527689:87527727:87536936:87537042:87540763:87540799 | 87536936:87537042 | ENSG00000085719.7 | ENST00000520814.1 |
| exon_skip_484410 | 8 | 87527689:87527727:87537104:87537225:87540763:87540799 | 87537104:87537225 | ENSG00000085719.7 | ENST00000523001.1 |
| exon_skip_484413 | 8 | 87540763:87540905:87541172:87541352:87543382:87543457 | 87541172:87541352 | ENSG00000085719.7 | ENST00000517771.1,ENST00000523469.1,ENST00000523072.1,ENST00000523001.1,ENST00000521271.1,ENST00000198765.4 |
| exon_skip_484414 | 8 | 87543382:87543457:87544736:87544808:87549790:87549874 | 87544736:87544808 | ENSG00000085719.7 | ENST00000523072.1,ENST00000521271.1,ENST00000198765.4 |
| exon_skip_484415 | 8 | 87544736:87544808:87549790:87549874:87552472:87552562 | 87549790:87549874 | ENSG00000085719.7 | ENST00000523072.1,ENST00000521271.1,ENST00000198765.4 |
| exon_skip_484418 | 8 | 87557024:87557066:87558822:87558909:87559938:87559998 | 87558822:87558909 | ENSG00000085719.7 | ENST00000517391.1,ENST00000521271.1,ENST00000198765.4 |
| exon_skip_484419 | 8 | 87558855:87558909:87559938:87559998:87560528:87560662 | 87559938:87559998 | ENSG00000085719.7 | ENST00000517354.1,ENST00000517391.1,ENST00000521271.1,ENST00000198765.4 |
| exon_skip_484421 | 8 | 87567078:87567212:87568329:87568566:87570515:87573639 | 87568329:87568566 | ENSG00000085719.7 | ENST00000517490.1,ENST00000521271.1,ENST00000198765.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CPNE3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484402 | 8 | 87526731:87526769:87527689:87527727:87537104:87537225 | 87527689:87527727 | ENSG00000085719.7 | ENST00000523001.1 |
| exon_skip_484403 | 8 | 87526731:87526769:87527689:87527727:87540763:87540799 | 87527689:87527727 | ENSG00000085719.7 | ENST00000521271.1 |
| exon_skip_484405 | 8 | 87527689:87527727:87533831:87533942:87540763:87540799 | 87533831:87533942 | ENSG00000085719.7 | ENST00000523469.1 |
| exon_skip_484408 | 8 | 87527689:87527727:87536936:87537042:87540763:87540799 | 87536936:87537042 | ENSG00000085719.7 | ENST00000520814.1 |
| exon_skip_484410 | 8 | 87527689:87527727:87537104:87537225:87540763:87540799 | 87537104:87537225 | ENSG00000085719.7 | ENST00000523001.1 |
| exon_skip_484413 | 8 | 87540763:87540905:87541172:87541352:87543382:87543457 | 87541172:87541352 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000523072.1,ENST00000523001.1,ENST00000517771.1,ENST00000523469.1 |
| exon_skip_484414 | 8 | 87543382:87543457:87544736:87544808:87549790:87549874 | 87544736:87544808 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000523072.1 |
| exon_skip_484415 | 8 | 87544736:87544808:87549790:87549874:87552472:87552562 | 87549790:87549874 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000523072.1 |
| exon_skip_484418 | 8 | 87557024:87557066:87558822:87558909:87559938:87559998 | 87558822:87558909 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000517391.1 |
| exon_skip_484419 | 8 | 87558855:87558909:87559938:87559998:87560528:87560662 | 87559938:87559998 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000517391.1,ENST00000517354.1 |
| exon_skip_484421 | 8 | 87567078:87567212:87568329:87568566:87570515:87573639 | 87568329:87568566 | ENSG00000085719.7 | ENST00000198765.4,ENST00000521271.1,ENST00000517490.1 |
| 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 CPNE3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CPNE3 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for CPNE3 |
| - 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 |
| KICH | TCGA-KL-8339-01 | exon_skip_484418 | 87558823 | 87558909 | 87558847 | 87558847 | Frame_Shift_Del | A | - | p.K253fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_484418 | 87558823 | 87558909 | 87558862 | 87558862 | Frame_Shift_Del | A | - | p.K259fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_484418 | 87558823 | 87558909 | 87558862 | 87558862 | Frame_Shift_Del | A | - | p.K258fs |
| COAD | TCGA-A6-5665-01 | exon_skip_484418 | 87558823 | 87558909 | 87558846 | 87558847 | Frame_Shift_Ins | - | A | p.E252fs |
| READ | TCGA-AG-A002-01 | exon_skip_484414 | 87544737 | 87544808 | 87544749 | 87544749 | Nonsense_Mutation | G | T | p.E134X |
| PRAD | TCGA-HC-7080-01 | exon_skip_484415 | 87549791 | 87549874 | 87549807 | 87549807 | Nonsense_Mutation | C | A | p.S159* |
| PRAD | TCGA-HC-7080-01 | exon_skip_484415 | 87549791 | 87549874 | 87549807 | 87549807 | Nonsense_Mutation | C | A | p.S159X |
| LIHC | TCGA-DD-A73G-01 | exon_skip_484415 | 87549791 | 87549874 | 87549817 | 87549817 | Nonsense_Mutation | C | A | p.Y162* |
| CESC | TCGA-DR-A0ZM-01 | exon_skip_484419 | 87559939 | 87559998 | 87559984 | 87559984 | Nonsense_Mutation | C | T | p.Q289* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_484421 | 87568330 | 87568566 | 87568537 | 87568537 | Nonsense_Mutation | C | T | p.Q488* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_484421 | 87568330 | 87568566 | 87568537 | 87568537 | Nonsense_Mutation | C | T | p.Q488X |
| LGG | TCGA-TQ-A7RG-01 | exon_skip_484421 | 87568330 | 87568566 | 87568561 | 87568561 | Nonsense_Mutation | C | T | p.Q496* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_484414 | 87544737 | 87544808 | 87544736 | 87544736 | Splice_Site | G | T | e4-1 |
| BRCA | TCGA-AN-A0XV-01 | exon_skip_484419 | 87559939 | 87559998 | 87559937 | 87559937 | Splice_Site | A | C | e9-2 |
| - 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 |
| KYSE270_OESOPHAGUS | 87541173 | 87541352 | 87541329 | 87541329 | Missense_Mutation | G | A | p.E97K |
| TE125T_FIBROBLAST | 87544737 | 87544808 | 87544778 | 87544778 | Missense_Mutation | T | G | p.F143L |
| LU134A_LUNG | 87544737 | 87544808 | 87544778 | 87544778 | Missense_Mutation | T | G | p.F143L |
| NCIH1876_LUNG | 87558823 | 87558909 | 87558855 | 87558855 | Missense_Mutation | G | C | p.R255S |
| HEC108_ENDOMETRIUM | 87558823 | 87558909 | 87558866 | 87558866 | Missense_Mutation | A | G | p.K259R |
| NCIH146_LUNG | 87568330 | 87568566 | 87568359 | 87568359 | Missense_Mutation | T | G | p.D428E |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87568330 | 87568566 | 87568363 | 87568363 | Missense_Mutation | G | A | p.V430M |
| SNU308_BILIARY_TRACT | 87568330 | 87568566 | 87568487 | 87568487 | Missense_Mutation | G | A | p.G471D |
| JHUEM7_ENDOMETRIUM | 87568330 | 87568566 | 87568498 | 87568498 | Missense_Mutation | C | T | p.R475C |
| SNU1040_LARGE_INTESTINE | 87568330 | 87568566 | 87568535 | 87568535 | Missense_Mutation | T | C | p.V487A |
| HCC2450_LUNG | 87568330 | 87568566 | 87568538 | 87568538 | Missense_Mutation | A | T | p.Q488L |
| NCIH1573_LUNG | 87568330 | 87568566 | 87568552 | 87568552 | Missense_Mutation | A | G | p.R493G |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87541173 | 87541352 | 87541350 | 87541350 | Nonsense_Mutation | C | T | p.Q104* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPNE3 |
| 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 CPNE3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPNE3 |
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RelatedDrugs for CPNE3 |
| 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 CPNE3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CPNE3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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