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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 PCSK7 |
 Gene summary |
| Gene information | Gene symbol | PCSK7 | Gene ID | 9159 |
| Gene name | proprotein convertase subtilisin/kexin type 7 | |
| Synonyms | LPC|PC7|PC8|SPC7 | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | proprotein convertase subtilisin/kexin type 7lymphoma proprotein convertaseprohormone convertase 7prohormone convertase PC7proprotein convertase 7proprotein convertase 8proprotein convertase PC7proprotein convertase subtilisin/kexin type 7 precurso | |
| Modification date | 20180519 | |
| UniProtAcc | Q16549 | |
| Context | PubMed: PCSK7 [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 |
| PCSK7 | GO:0016485 | protein processing | 15606899 |
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Exon skipping events across known transcript of Ensembl for PCSK7 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 PCSK7 |
| 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 PCSK7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77640 | 11 | 117077489:117077514:117077782:117077876:117078369:117078451 | 117077782:117077876 | ENSG00000160613.8 | ENST00000540028.1,ENST00000534529.1 |
| exon_skip_77641 | 11 | 117077489:117077514:117077782:117077876:117078685:117078780 | 117077782:117077876 | ENSG00000160613.8 | ENST00000527861.1,ENST00000320934.3,ENST00000527037.1 |
| exon_skip_77644 | 11 | 117077782:117077876:117078369:117078451:117078685:117078780 | 117078369:117078451 | ENSG00000160613.8 | ENST00000540028.1,ENST00000534529.1 |
| exon_skip_77646 | 11 | 117078685:117078780:117079612:117079762:117089181:117089284 | 117079612:117079762 | ENSG00000160613.8 | ENST00000533135.1 |
| exon_skip_77648 | 11 | 117078685:117078780:117079612:117079769:117089181:117089284 | 117079612:117079769 | ENSG00000160613.8 | ENST00000540028.1,ENST00000534529.1,ENST00000320934.3,ENST00000527037.1 |
| exon_skip_77656 | 11 | 117089181:117089284:117089772:117089880:117090306:117090474 | 117089772:117089880 | ENSG00000160613.8 | ENST00000540028.1,ENST00000534529.1,ENST00000320934.3 |
| exon_skip_77667 | 11 | 117095416:117095471:117096646:117096737:117097872:117098038 | 117096646:117096737 | ENSG00000160613.8 | ENST00000525027.1,ENST00000320934.3 |
| exon_skip_77672 | 11 | 117096646:117096737:117097872:117098038:117098931:117099066 | 117097872:117098038 | ENSG00000160613.8 | ENST00000525027.1,ENST00000320934.3 |
| exon_skip_77674 | 11 | 117101064:117101184:117101842:117101933:117102742:117102790 | 117101842:117101933 | ENSG00000160613.8 | ENST00000532301.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCSK7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77640 | 11 | 117077489:117077514:117077782:117077876:117078369:117078451 | 117077782:117077876 | ENSG00000160613.8 | ENST00000534529.1,ENST00000540028.1 |
| exon_skip_77641 | 11 | 117077489:117077514:117077782:117077876:117078685:117078780 | 117077782:117077876 | ENSG00000160613.8 | ENST00000320934.3,ENST00000527037.1,ENST00000527861.1 |
| exon_skip_77644 | 11 | 117077782:117077876:117078369:117078451:117078685:117078780 | 117078369:117078451 | ENSG00000160613.8 | ENST00000534529.1,ENST00000540028.1 |
| exon_skip_77646 | 11 | 117078685:117078780:117079612:117079762:117089181:117089284 | 117079612:117079762 | ENSG00000160613.8 | ENST00000533135.1 |
| exon_skip_77648 | 11 | 117078685:117078780:117079612:117079769:117089181:117089284 | 117079612:117079769 | ENSG00000160613.8 | ENST00000320934.3,ENST00000534529.1,ENST00000540028.1,ENST00000527037.1 |
| exon_skip_77656 | 11 | 117089181:117089284:117089772:117089880:117090306:117090474 | 117089772:117089880 | ENSG00000160613.8 | ENST00000320934.3,ENST00000534529.1,ENST00000540028.1 |
| exon_skip_77667 | 11 | 117095416:117095471:117096646:117096737:117097872:117098038 | 117096646:117096737 | ENSG00000160613.8 | ENST00000320934.3,ENST00000525027.1 |
| exon_skip_77672 | 11 | 117096646:117096737:117097872:117098038:117098931:117099066 | 117097872:117098038 | ENSG00000160613.8 | ENST00000320934.3,ENST00000525027.1 |
| exon_skip_77674 | 11 | 117101064:117101184:117101842:117101933:117102742:117102790 | 117101842:117101933 | ENSG00000160613.8 | ENST00000532301.1 |
| 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 PCSK7 |
| 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 |
| ENST00000320934 | 117077782 | 117077876 | Frame-shift |
| ENST00000320934 | 117079612 | 117079769 | Frame-shift |
| ENST00000320934 | 117096646 | 117096737 | Frame-shift |
| ENST00000320934 | 117097872 | 117098038 | Frame-shift |
| ENST00000320934 | 117089772 | 117089880 | 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 |
| ENST00000320934 | 117077782 | 117077876 | Frame-shift |
| ENST00000320934 | 117079612 | 117079769 | Frame-shift |
| ENST00000320934 | 117096646 | 117096737 | Frame-shift |
| ENST00000320934 | 117097872 | 117098038 | Frame-shift |
| ENST00000320934 | 117089772 | 117089880 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PCSK7 |
| 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 |
| ENST00000320934 | 4666 | 785 | 117089772 | 117089880 | 1955 | 2062 | 441 | 477 |
| 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 |
| ENST00000320934 | 4666 | 785 | 117089772 | 117089880 | 1955 | 2062 | 441 | 477 |
| 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 |
| Q16549 | 441 | 477 | 142 | 785 | Chain | ID=PRO_0000027115;Note=Proprotein convertase subtilisin/kexin type 7 |
| Q16549 | 441 | 477 | 182 | 474 | Domain | Note=Peptidase S8 |
| Q16549 | 441 | 477 | 142 | 667 | Topological domain | Note=Extracellular;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 |
| Q16549 | 441 | 477 | 142 | 785 | Chain | ID=PRO_0000027115;Note=Proprotein convertase subtilisin/kexin type 7 |
| Q16549 | 441 | 477 | 182 | 474 | Domain | Note=Peptidase S8 |
| Q16549 | 441 | 477 | 142 | 667 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PCSK7 |
| - 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 |
| COAD | TCGA-AD-5900-01 | exon_skip_77646 | 117079613 | 117079762 | 117079626 | 117079626 | Frame_Shift_Del | G | - | p.R560fs |
| COAD | TCGA-AD-5900-01 | exon_skip_77648 | 117079613 | 117079769 | 117079626 | 117079626 | Frame_Shift_Del | G | - | p.R560fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_77672 | 117097873 | 117098038 | 117097983 | 117097983 | Frame_Shift_Del | G | - | p.P220fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77672 | 117097873 | 117098038 | 117097983 | 117097983 | Frame_Shift_Del | G | - | p.P220fs |
| LUAD | TCGA-55-8506-01 | exon_skip_77646 | 117079613 | 117079762 | 117079625 | 117079626 | Frame_Shift_Ins | - | G | p.Q560fs |
| LUAD | TCGA-55-8506-01 | exon_skip_77648 | 117079613 | 117079769 | 117079625 | 117079626 | Frame_Shift_Ins | - | G | p.Q560fs |
| ESCA | TCGA-R6-A6Y0-01 | exon_skip_77640 exon_skip_77641 | 117077783 | 117077876 | 117077812 | 117077812 | Nonsense_Mutation | C | T | p.W617* |
| COAD | TCGA-AM-5821-01 | exon_skip_77646 | 117079613 | 117079762 | 117079612 | 117079612 | Splice_Site | C | T | . |
| COAD | TCGA-AM-5821-01 | exon_skip_77648 | 117079613 | 117079769 | 117079612 | 117079612 | Splice_Site | C | T | . |
| BRCA | TCGA-A8-A07W-01 | exon_skip_77672 | 117097873 | 117098038 | 117098039 | 117098039 | Splice_Site | C | T | e3-1 |
| - 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 |
| HCT15_LARGE_INTESTINE | 117077783 | 117077876 | 117077822 | 117077822 | Missense_Mutation | C | T | p.G614D |
| COLO678_LARGE_INTESTINE | 117077783 | 117077876 | 117077835 | 117077835 | Missense_Mutation | G | C | p.L610V |
| HCT15_LARGE_INTESTINE | 117077783 | 117077876 | 117077835 | 117077835 | Missense_Mutation | G | C | p.L610V |
| HT29_LARGE_INTESTINE | 117077783 | 117077876 | 117077835 | 117077835 | Missense_Mutation | G | C | p.L610V |
| LS513_LARGE_INTESTINE | 117077783 | 117077876 | 117077835 | 117077835 | Missense_Mutation | G | C | p.L610V |
| NCIH378_LUNG | 117077783 | 117077876 | 117077835 | 117077835 | Missense_Mutation | G | C | p.L610V |
| SNU1040_LARGE_INTESTINE | 117077783 | 117077876 | 117077873 | 117077873 | Missense_Mutation | T | C | p.D597G |
| CHP126_AUTONOMIC_GANGLIA | 117079613 | 117079769 | 117079615 | 117079615 | Missense_Mutation | G | T | p.D563E |
| CHP126_AUTONOMIC_GANGLIA | 117079613 | 117079762 | 117079615 | 117079615 | Missense_Mutation | G | T | p.D563E |
| NCIH2110_LUNG | 117079613 | 117079769 | 117079670 | 117079670 | Missense_Mutation | T | A | p.K545M |
| NCIH2110_LUNG | 117079613 | 117079762 | 117079670 | 117079670 | Missense_Mutation | T | A | p.K545M |
| LS1034_MATCHED_NORMAL_TISSUE | 117079613 | 117079769 | 117079750 | 117079750 | Missense_Mutation | C | A | p.E518D |
| LS1034_MATCHED_NORMAL_TISSUE | 117079613 | 117079762 | 117079750 | 117079750 | Missense_Mutation | C | A | p.E518D |
| LS1034_LARGE_INTESTINE | 117079613 | 117079769 | 117079750 | 117079750 | Missense_Mutation | C | A | p.E518D |
| LS1034_LARGE_INTESTINE | 117079613 | 117079762 | 117079750 | 117079750 | Missense_Mutation | C | A | p.E518D |
| NCIH1155_LUNG | 117089773 | 117089880 | 117089799 | 117089799 | Missense_Mutation | C | T | p.A469T |
| SISO_CERVIX | 117089773 | 117089880 | 117089824 | 117089824 | Missense_Mutation | G | C | p.H460Q |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117089773 | 117089880 | 117089824 | 117089824 | Missense_Mutation | G | C | p.H460Q |
| HCT116_LARGE_INTESTINE | 117089773 | 117089880 | 117089865 | 117089865 | Missense_Mutation | C | T | p.A447T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117096647 | 117096737 | 117096695 | 117096695 | Missense_Mutation | G | A | p.A271V |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117097873 | 117098038 | 117097903 | 117097903 | Missense_Mutation | C | A | p.V247L |
| SNU475_LIVER | 117097873 | 117098038 | 117097957 | 117097957 | Missense_Mutation | C | A | p.G229C |
| SNU1040_LARGE_INTESTINE | 117097873 | 117098038 | 117097981 | 117097981 | Missense_Mutation | C | T | p.D221N |
| MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117097873 | 117098038 | 117097985 | 117097985 | Missense_Mutation | G | C | p.H219Q |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117077783 | 117077876 | 117077812 | 117077812 | Nonsense_Mutation | C | T | p.W617* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCSK7 |
| 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 |
| exon_skip_77667 | 11 | 117095416:117095471:117096646:117096737:117097872:117098038 | 117096646:117096737 | ENST00000525027.1,ENST00000320934.3 | LIHC | rs2277287 | chr11:117096652 | G/A | 1.46e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCSK7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCSK7 |
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RelatedDrugs for PCSK7 |
| 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 PCSK7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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