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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 PCSK5 |
 Gene summary |
| Gene information | Gene symbol | PCSK5 | Gene ID | 5125 |
| Gene name | proprotein convertase subtilisin/kexin type 5 | |
| Synonyms | PC5|PC6|PC6A|SPC6 | |
| Cytomap | 9q21.13 | |
| Type of gene | protein-coding | |
| Description | proprotein convertase subtilisin/kexin type 5prohormone convertase 5proprotein convertase 6protease PC6subtilasesubtilisin/kexin-like protease PC5 | |
| Modification date | 20180522 | |
| UniProtAcc | Q92824 | |
| Context | PubMed: PCSK5 [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 |
| PCSK5 | GO:0006465 | signal peptide processing | 16912035 |
| PCSK5 | GO:0016485 | protein processing | 8901832|15606899 |
| PCSK5 | GO:0016486 | peptide hormone processing | 8901832 |
| PCSK5 | GO:0043043 | peptide biosynthetic process | 8901832 |
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Exon skipping events across known transcript of Ensembl for PCSK5 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 PCSK5 |
| 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 PCSK5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496588 | 9 | 78547294:78547399:78601047:78601161:78638653:78638797 | 78601047:78601161 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376767.3,ENST00000376752.4 |
| exon_skip_496589 | 9 | 78686641:78686814:78710805:78711018:78722166:78722267 | 78710805:78711018 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376767.3,ENST00000376752.4 |
| exon_skip_496590 | 9 | 78722166:78722267:78749024:78749128:78771960:78772078 | 78749024:78749128 | ENSG00000099139.9 | ENST00000424854.2,ENST00000545128.1,ENST00000376767.3,ENST00000376752.4 |
| exon_skip_496593 | 9 | 78789901:78790045:78794511:78794614:78796313:78796507 | 78794511:78794614 | ENSG00000099139.9 | ENST00000424854.2,ENST00000545128.1,ENST00000376752.4 |
| exon_skip_496594 | 9 | 78796313:78796507:78799588:78799673:78803493:78803591 | 78799588:78799673 | ENSG00000099139.9 | ENST00000424854.2,ENST00000545128.1,ENST00000376752.4 |
| exon_skip_496596 | 9 | 78911580:78911781:78917052:78917133:78923560:78923644 | 78917052:78917133 | ENSG00000099139.9 | ENST00000424854.2 |
| exon_skip_496598 | 9 | 78937967:78938204:78942924:78943155:78947348:78947526 | 78942924:78943155 | ENSG00000099139.9 | ENST00000424854.2,ENST00000545128.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCSK5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496588 | 9 | 78547294:78547399:78601047:78601161:78638653:78638797 | 78601047:78601161 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376767.3,ENST00000376752.4 |
| exon_skip_496589 | 9 | 78686641:78686814:78710805:78711018:78722166:78722267 | 78710805:78711018 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376767.3,ENST00000376752.4 |
| exon_skip_496590 | 9 | 78722166:78722267:78749024:78749128:78771960:78772078 | 78749024:78749128 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376767.3,ENST00000376752.4,ENST00000424854.2 |
| exon_skip_496593 | 9 | 78789901:78790045:78794511:78794614:78796313:78796507 | 78794511:78794614 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376752.4,ENST00000424854.2 |
| exon_skip_496594 | 9 | 78796313:78796507:78799588:78799673:78803493:78803591 | 78799588:78799673 | ENSG00000099139.9 | ENST00000545128.1,ENST00000376752.4,ENST00000424854.2 |
| exon_skip_496596 | 9 | 78911580:78911781:78917052:78917133:78923560:78923644 | 78917052:78917133 | ENSG00000099139.9 | ENST00000424854.2 |
| 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 PCSK5 |
| 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 |
| ENST00000545128 | 78749024 | 78749128 | Frame-shift |
| ENST00000545128 | 78794511 | 78794614 | Frame-shift |
| ENST00000545128 | 78799588 | 78799673 | Frame-shift |
| ENST00000545128 | 78601047 | 78601161 | In-frame |
| ENST00000545128 | 78710805 | 78711018 | In-frame |
| ENST00000545128 | 78942924 | 78943155 | 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 |
| ENST00000545128 | 78749024 | 78749128 | Frame-shift |
| ENST00000545128 | 78794511 | 78794614 | Frame-shift |
| ENST00000545128 | 78799588 | 78799673 | Frame-shift |
| ENST00000545128 | 78601047 | 78601161 | In-frame |
| ENST00000545128 | 78710805 | 78711018 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PCSK5 |
| 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 |
| ENST00000545128 | 9555 | 1860 | 78601047 | 78601161 | 836 | 949 | 99 | 137 |
| ENST00000545128 | 9555 | 1860 | 78710805 | 78711018 | 1433 | 1645 | 298 | 369 |
| ENST00000545128 | 9555 | 1860 | 78942924 | 78943155 | 4797 | 5027 | 1419 | 1496 |
| 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 |
| ENST00000545128 | 9555 | 1860 | 78601047 | 78601161 | 836 | 949 | 99 | 137 |
| ENST00000545128 | 9555 | 1860 | 78710805 | 78711018 | 1433 | 1645 | 298 | 369 |
| 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 |
| Q92824 | 99 | 137 | 115 | 1860 | Chain | ID=PRO_0000027103;Note=Proprotein convertase subtilisin/kexin type 5 |
| Q92824 | 99 | 137 | 33 | 114 | Propeptide | ID=PRO_0000027102;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q92824 | 99 | 137 | 118 | 118 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92824 | 99 | 137 | 121 | 121 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92824 | 99 | 137 | 114 | 115 | Site | Note=Cleavage%3B by autolysis;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q92824 | 99 | 137 | 115 | 1743 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92824 | 298 | 369 | 115 | 1860 | Chain | ID=PRO_0000027103;Note=Proprotein convertase subtilisin/kexin type 5 |
| Q92824 | 298 | 369 | 166 | 453 | Domain | Note=Peptidase S8 |
| Q92824 | 298 | 369 | 115 | 1743 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92824 | 1419 | 1496 | 914 | 1860 | Alternative sequence | ID=VSP_042018;Note=In isoform PC6A. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|PubMed:8755538,ECO:0000303|Ref.7;Dbxref=PMID:15489334,PMID:17974005,PMID |
| Q92824 | 1419 | 1496 | 115 | 1860 | Chain | ID=PRO_0000027103;Note=Proprotein convertase subtilisin/kexin type 5 |
| Q92824 | 1419 | 1496 | 636 | 1727 | Region | Note=CRM (Cys-rich motif) |
| Q92824 | 1419 | 1496 | 1415 | 1461 | Repeat | Note=FU 17 |
| Q92824 | 1419 | 1496 | 1465 | 1510 | Repeat | Note=FU 18 |
| Q92824 | 1419 | 1496 | 115 | 1743 | 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 |
| Q92824 | 99 | 137 | 115 | 1860 | Chain | ID=PRO_0000027103;Note=Proprotein convertase subtilisin/kexin type 5 |
| Q92824 | 99 | 137 | 33 | 114 | Propeptide | ID=PRO_0000027102;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q92824 | 99 | 137 | 118 | 118 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92824 | 99 | 137 | 121 | 121 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92824 | 99 | 137 | 114 | 115 | Site | Note=Cleavage%3B by autolysis;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q92824 | 99 | 137 | 115 | 1743 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92824 | 298 | 369 | 115 | 1860 | Chain | ID=PRO_0000027103;Note=Proprotein convertase subtilisin/kexin type 5 |
| Q92824 | 298 | 369 | 166 | 453 | Domain | Note=Peptidase S8 |
| Q92824 | 298 | 369 | 115 | 1743 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PCSK5 |
| - 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. |
PCSK5_STAD_exon_skip_496589_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-A3A0-01 | exon_skip_496588 | 78601048 | 78601161 | 78601074 | 78601074 | Frame_Shift_Del | A | - | p.V108fs |
| LUAD | TCGA-99-8033-01 | exon_skip_496590 | 78749025 | 78749128 | 78749062 | 78749062 | Frame_Shift_Del | G | - | p.V416fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_496593 | 78794512 | 78794614 | 78794611 | 78794611 | Frame_Shift_Del | C | - | p.T667fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496598 | 78942925 | 78943155 | 78943005 | 78943005 | Frame_Shift_Del | G | - | p.G1447fs |
| SKCM | TCGA-EE-A29L-06 | exon_skip_496588 | 78601048 | 78601161 | 78601055 | 78601055 | Nonsense_Mutation | G | A | p.W102* |
| SKCM | TCGA-DA-A1IC-06 | exon_skip_496589 | 78710806 | 78711018 | 78711013 | 78711013 | Nonsense_Mutation | A | T | p.K368* |
| SKCM | TCGA-DA-A3F8-06 | exon_skip_496590 | 78749025 | 78749128 | 78749103 | 78749103 | Nonsense_Mutation | G | A | p.W429* |
| SKCM | TCGA-DA-A3F8-06 | exon_skip_496590 | 78749025 | 78749128 | 78749103 | 78749103 | Nonsense_Mutation | G | A | p.W429X |
| HNSC | TCGA-CV-A45W-01 | exon_skip_496598 | 78942925 | 78943155 | 78943013 | 78943013 | Nonsense_Mutation | C | A | p.C1449* |
| STAD | TCGA-D7-8573-01 | exon_skip_496589 | 78710806 | 78711018 | 78711019 | 78711019 | Splice_Site | G | A | . |
| STAD | TCGA-D7-8573-01 | exon_skip_496589 | 78710806 | 78711018 | 78711019 | 78711019 | Splice_Site | G | A | p.I369_splice |
| SKCM | TCGA-DA-A1IC-06 | exon_skip_496594 | 78799589 | 78799673 | 78799588 | 78799588 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D7-8573-01 |
| Cancer type: STAD | |
| ESID: exon_skip_496589 | |
| Skipped exon start: 78710806 | |
| Skipped exon end: 78711018 | |
| Mutation start: 78711019 | |
| Mutation end: 78711019 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
| Sample: TCGA-D7-8573-01 |
| Cancer type: STAD | |
| ESID: exon_skip_496589 | |
| Skipped exon start: 78710806 | |
| Skipped exon end: 78711018 | |
| Mutation start: 78711019 | |
| Mutation end: 78711019 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.I369_splice | |
exon_skip_496589_STAD_TCGA-D7-8573-01.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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78601048 | 78601161 | 78601074 | 78601074 | Frame_Shift_Del | A | - | p.V108fs |
| HEC6_ENDOMETRIUM | 78749025 | 78749128 | 78749104 | 78749104 | Frame_Shift_Del | A | - | p.K430fs |
| IPC298_SKIN | 78601048 | 78601161 | 78601135 | 78601135 | Missense_Mutation | C | T | p.P129S |
| CP67MEL_SKIN | 78601048 | 78601161 | 78601136 | 78601136 | Missense_Mutation | C | T | p.P129L |
| SUIT2_PANCREAS | 78710806 | 78711018 | 78710818 | 78710818 | Missense_Mutation | C | T | p.L303F |
| M980513_SKIN | 78710806 | 78711018 | 78710854 | 78710854 | Missense_Mutation | G | A | p.G315R |
| SW1417_LARGE_INTESTINE | 78710806 | 78711018 | 78710935 | 78710935 | Missense_Mutation | G | A | p.G342R |
| OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78710806 | 78711018 | 78710987 | 78710987 | Missense_Mutation | A | C | p.Y359S |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78710806 | 78711018 | 78710995 | 78710995 | Missense_Mutation | G | A | p.G362R |
| SNU1040_LARGE_INTESTINE | 78749025 | 78749128 | 78749057 | 78749057 | Missense_Mutation | T | C | p.V414A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78749025 | 78749128 | 78749065 | 78749065 | Missense_Mutation | A | G | p.R417G |
| WM88_SKIN | 78749025 | 78749128 | 78749072 | 78749072 | Missense_Mutation | C | T | p.S419F |
| HEC265_ENDOMETRIUM | 78749025 | 78749128 | 78749074 | 78749074 | Missense_Mutation | C | T | p.R420C |
| SW684_SOFT_TISSUE | 78749025 | 78749128 | 78749074 | 78749074 | Missense_Mutation | C | T | p.R420C |
| SARC9371_BONE | 78794512 | 78794614 | 78794538 | 78794538 | Missense_Mutation | G | A | p.V643I |
| SNU1040_LARGE_INTESTINE | 78794512 | 78794614 | 78794545 | 78794545 | Missense_Mutation | G | A | p.C645Y |
| JHUEM7_ENDOMETRIUM | 78794512 | 78794614 | 78794550 | 78794550 | Missense_Mutation | G | A | p.G647R |
| RKO_LARGE_INTESTINE | 78794512 | 78794614 | 78794550 | 78794550 | Missense_Mutation | G | A | p.G647R |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78799589 | 78799673 | 78799606 | 78799606 | Missense_Mutation | A | G | p.K739E |
| HEC108_ENDOMETRIUM | 78799589 | 78799673 | 78799619 | 78799619 | Missense_Mutation | A | G | p.N743S |
| COLO829_SKIN | 78799589 | 78799673 | 78799631 | 78799631 | Missense_Mutation | G | A | p.C747Y |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78942925 | 78943155 | 78942928 | 78942928 | Missense_Mutation | G | T | p.C1421F |
| NCIH1339_LUNG | 78942925 | 78943155 | 78942958 | 78942958 | Missense_Mutation | C | A | p.S1431Y |
| NCIH2110_LUNG | 78942925 | 78943155 | 78942987 | 78942987 | Missense_Mutation | C | A | p.L1441M |
| MEWO_SKIN | 78942925 | 78943155 | 78942995 | 78942995 | Missense_Mutation | G | A | p.M1443I |
| TE9_OESOPHAGUS | 78942925 | 78943155 | 78942995 | 78942995 | Missense_Mutation | G | A | p.M1443I |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78942925 | 78943155 | 78943062 | 78943062 | Missense_Mutation | C | T | p.P1466S |
| RKO_LARGE_INTESTINE | 78942925 | 78943155 | 78943072 | 78943072 | Missense_Mutation | A | G | p.K1469R |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78942925 | 78943155 | 78943111 | 78943111 | Missense_Mutation | C | G | p.A1482G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCSK5 |
| 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 PCSK5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCSK5 |
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RelatedDrugs for PCSK5 |
| 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 PCSK5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PCSK5 | C0003466 | Anus, Imperforate | 1 | CTD_human |
| PCSK5 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| PCSK5 | C0018816 | Heart Septal Defects | 1 | CTD_human |
| PCSK5 | C0018818 | Ventricular Septal Defects | 1 | CTD_human |
| PCSK5 | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| PCSK5 | C0022658 | Kidney Diseases | 1 | CTD_human |
| PCSK5 | C0024115 | Lung diseases | 1 | CTD_human |
| PCSK5 | C0026633 | Mouth Abnormalities | 1 | CTD_human |
| PCSK5 | C0040588 | Tracheoesophageal Fistula | 1 | CTD_human |
| PCSK5 | C0220708 | VATER Association | 1 | CTD_human |
| PCSK5 | C0431943 | Lower Extremity Deformities, Congenital | 1 | CTD_human |
| PCSK5 | C1306503 | Congenital exomphalos | 1 | CTD_human |
| PCSK5 | C1531773 | Currarino triad | 1 | CTD_human |
| PCSK5 | C1838568 | Sacral defect and anterior sacral meningocele | 1 | CTD_human |
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