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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 SERPINE1 |
 Gene summary |
| Gene information | Gene symbol | SERPINE1 | Gene ID | 5054 |
| Gene name | serpin family E member 1 | |
| Synonyms | PAI|PAI-1|PAI1|PLANH1 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | plasminogen activator inhibitor 1endothelial plasminogen activator inhibitorserine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1serpin E1serpin peptidase inhibitor, clade E (nexin, plasminogen ac | |
| Modification date | 20180527 | |
| UniProtAcc | P05121 | |
| Context | PubMed: SERPINE1 [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 |
| SERPINE1 | GO:0010469 | regulation of signaling receptor activity | 8837777 |
| SERPINE1 | GO:0010757 | negative regulation of plasminogen activation | 8508955 |
| SERPINE1 | GO:0010951 | negative regulation of endopeptidase activity | 1695900 |
| SERPINE1 | GO:0014912 | negative regulation of smooth muscle cell migration | 8837777 |
| SERPINE1 | GO:0030336 | negative regulation of cell migration | 10902815 |
| SERPINE1 | GO:0033629 | negative regulation of cell adhesion mediated by integrin | 8837777 |
| SERPINE1 | GO:0048260 | positive regulation of receptor-mediated endocytosis | 8626514 |
| SERPINE1 | GO:0051918 | negative regulation of fibrinolysis | 2503541 |
| SERPINE1 | GO:0097187 | dentinogenesis | 27046084 |
| SERPINE1 | GO:1901331 | positive regulation of odontoblast differentiation | 27046084 |
| SERPINE1 | GO:2000098 | negative regulation of smooth muscle cell-matrix adhesion | 8837777 |
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Exon skipping events across known transcript of Ensembl for SERPINE1 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 SERPINE1 |
| 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 SERPINE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469904 | 7 | 100770378:100770525:100771673:100771764:100771809:100771945 | 100771673:100771764 | ENSG00000106366.7 | ENST00000445463.2 |
| exon_skip_469927 | 7 | 100771809:100771945:100773701:100773935:100775155:100775350 | 100773701:100773935 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469936 | 7 | 100773701:100773935:100775155:100775350:100776975:100777174 | 100775155:100775350 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469938 | 7 | 100775155:100775350:100776975:100777174:100778774:100778875 | 100776975:100777174 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469940 | 7 | 100776975:100777174:100778774:100778875:100778995:100779082 | 100778774:100778875 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SERPINE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469904 | 7 | 100770378:100770525:100771673:100771764:100771809:100771945 | 100771673:100771764 | ENSG00000106366.7 | ENST00000445463.2 |
| exon_skip_469927 | 7 | 100771809:100771945:100773701:100773935:100775155:100775350 | 100773701:100773935 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469936 | 7 | 100773701:100773935:100775155:100775350:100776975:100777174 | 100775155:100775350 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469938 | 7 | 100775155:100775350:100776975:100777174:100778774:100778875 | 100776975:100777174 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| exon_skip_469940 | 7 | 100776975:100777174:100778774:100778875:100778995:100779082 | 100778774:100778875 | ENSG00000106366.7 | ENST00000223095.4,ENST00000445463.2 |
| 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 SERPINE1 |
| 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 |
| ENST00000223095 | 100776975 | 100777174 | Frame-shift |
| ENST00000223095 | 100778774 | 100778875 | Frame-shift |
| ENST00000223095 | 100773701 | 100773935 | In-frame |
| ENST00000223095 | 100775155 | 100775350 | 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 |
| ENST00000223095 | 100776975 | 100777174 | Frame-shift |
| ENST00000223095 | 100778774 | 100778875 | Frame-shift |
| ENST00000223095 | 100773701 | 100773935 | In-frame |
| ENST00000223095 | 100775155 | 100775350 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERPINE1 |
| 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 |
| ENST00000223095 | 3207 | 402 | 100773701 | 100773935 | 429 | 662 | 90 | 168 |
| ENST00000223095 | 3207 | 402 | 100775155 | 100775350 | 663 | 857 | 168 | 233 |
| 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 |
| ENST00000223095 | 3207 | 402 | 100773701 | 100773935 | 429 | 662 | 90 | 168 |
| ENST00000223095 | 3207 | 402 | 100775155 | 100775350 | 663 | 857 | 168 | 233 |
| 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 |
| P05121 | 90 | 168 | 111 | 123 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 145 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 24 | 402 | Chain | ID=PRO_0000032499;Note=Plasminogen activator inhibitor 1 |
| P05121 | 90 | 168 | 94 | 106 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 108 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 132 | 140 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 149 | 151 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UT3 |
| P05121 | 90 | 168 | 152 | 165 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 138 | 138 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05121 | 90 | 168 | 166 | 169 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 170 | 172 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:9PAI |
| P05121 | 168 | 233 | 186 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 209 | 213 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 216 | 218 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1C5G |
| P05121 | 168 | 233 | 219 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 24 | 402 | Chain | ID=PRO_0000032499;Note=Plasminogen activator inhibitor 1 |
| P05121 | 168 | 233 | 232 | 232 | Glycosylation | Note=N-linked (GlcNAc...) asparagine |
| P05121 | 168 | 233 | 176 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G8R |
| P05121 | 168 | 233 | 204 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CVM |
| P05121 | 168 | 233 | 197 | 197 | Mutagenesis | Note=Increased half-life of the active form when associated with C-355. Q->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17912461;Dbxref=PMID:17912461 |
| P05121 | 168 | 233 | 209 | 209 | Natural variant | ID=VAR_013087;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8;Dbxref=dbSNP:rs2227669 |
| P05121 | 168 | 233 | 226 | 226 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05121 | 168 | 233 | 166 | 169 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| 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 |
| P05121 | 90 | 168 | 111 | 123 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 145 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 24 | 402 | Chain | ID=PRO_0000032499;Note=Plasminogen activator inhibitor 1 |
| P05121 | 90 | 168 | 94 | 106 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 108 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 132 | 140 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 149 | 151 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UT3 |
| P05121 | 90 | 168 | 152 | 165 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 90 | 168 | 138 | 138 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05121 | 90 | 168 | 166 | 169 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 170 | 172 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:9PAI |
| P05121 | 168 | 233 | 186 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 209 | 213 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 216 | 218 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1C5G |
| P05121 | 168 | 233 | 219 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
| P05121 | 168 | 233 | 24 | 402 | Chain | ID=PRO_0000032499;Note=Plasminogen activator inhibitor 1 |
| P05121 | 168 | 233 | 232 | 232 | Glycosylation | Note=N-linked (GlcNAc...) asparagine |
| P05121 | 168 | 233 | 176 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G8R |
| P05121 | 168 | 233 | 204 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CVM |
| P05121 | 168 | 233 | 197 | 197 | Mutagenesis | Note=Increased half-life of the active form when associated with C-355. Q->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17912461;Dbxref=PMID:17912461 |
| P05121 | 168 | 233 | 209 | 209 | Natural variant | ID=VAR_013087;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8;Dbxref=dbSNP:rs2227669 |
| P05121 | 168 | 233 | 226 | 226 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05121 | 168 | 233 | 166 | 169 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LJ5 |
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SNVs in the skipped exons for SERPINE1 |
| - 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 |
| LUAD | TCGA-05-4405-01 | exon_skip_469927 | 100773702 | 100773935 | 100773778 | 100773779 | Frame_Shift_Del | CA | - | p.T116fs |
| LUAD | TCGA-05-4405-01 | exon_skip_469927 | 100773702 | 100773935 | 100773778 | 100773779 | Frame_Shift_Del | CA | - | p.TT116fs |
| HNSC | TCGA-H7-8501-01 | exon_skip_469936 | 100775156 | 100775350 | 100775249 | 100775252 | Frame_Shift_Del | CTCC | - | p.TP200fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_469938 | 100776976 | 100777174 | 100777016 | 100777016 | Frame_Shift_Del | G | - | p.L247fs |
| HNSC | TCGA-CQ-6223-01 | exon_skip_469938 | 100776976 | 100777174 | 100777046 | 100777047 | Frame_Shift_Ins | - | A | p.S257fs |
| HNSC | TCGA-CQ-6223-01 | exon_skip_469938 | 100776976 | 100777174 | 100777046 | 100777047 | Frame_Shift_Ins | - | A | p.SV257fs |
| LUAD | TCGA-17-Z053-01 | exon_skip_469927 | 100773702 | 100773935 | 100773740 | 100773740 | Nonsense_Mutation | G | T | p.E104* |
| READ | TCGA-AG-A002-01 | exon_skip_469938 | 100776976 | 100777174 | 100777074 | 100777074 | Nonsense_Mutation | G | T | p.E252X |
| BRCA | TCGA-C8-A1HI-01 | exon_skip_469938 | 100776976 | 100777174 | 100777176 | 100777176 | Splice_Site | T | C | e4+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 |
| UBLC1_URINARY_TRACT | 100771674 | 100771764 | 100771678 | 100771678 | Missense_Mutation | C | G | p.Q2E |
| HCC366_LUNG | 100771674 | 100771764 | 100771730 | 100771730 | Missense_Mutation | G | T | p.G19V |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 100773702 | 100773935 | 100773726 | 100773726 | Missense_Mutation | G | A | p.R99Q |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100773702 | 100773935 | 100773742 | 100773742 | Missense_Mutation | G | C | p.E104D |
| LNCAPCLONEFGC_PROSTATE | 100773702 | 100773935 | 100773785 | 100773785 | Missense_Mutation | G | A | p.A119T |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100773702 | 100773935 | 100773789 | 100773789 | Missense_Mutation | T | C | p.I120T |
| HCC2450_LUNG | 100773702 | 100773935 | 100773872 | 100773872 | Missense_Mutation | G | C | p.D148H |
| JEG3_PLACENTA | 100773702 | 100773935 | 100773899 | 100773899 | Missense_Mutation | T | C | p.F157L |
| BIN67_OVARY | 100775156 | 100775350 | 100775174 | 100775174 | Missense_Mutation | T | C | p.L175P |
| SUM149PT_BREAST | 100775156 | 100775350 | 100775252 | 100775252 | Missense_Mutation | C | A | p.P201H |
| WM2664_SKIN | 100775156 | 100775350 | 100775266 | 100775266 | Missense_Mutation | A | G | p.S206G |
| WM115_SKIN | 100775156 | 100775350 | 100775266 | 100775266 | Missense_Mutation | A | G | p.S206G |
| NCIH23_LUNG | 100778775 | 100778875 | 100778843 | 100778843 | Missense_Mutation | G | C | p.R323T |
| VMRCLCD_LUNG | 100778775 | 100778875 | 100778857 | 100778857 | Missense_Mutation | G | T | p.D328Y |
| ABC1_LUNG | 100771674 | 100771764 | 100771677 | 100771677 | Start_Codon_SNP | G | A | p.M1I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINE1 |
| 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 SERPINE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINE1 |
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RelatedDrugs for SERPINE1 |
| 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 |
| P05121 | DB00009 | Alteplase | Plasminogen activator inhibitor 1 | biotech | approved | |
| P05121 | DB00029 | Anistreplase | Plasminogen activator inhibitor 1 | biotech | approved | |
| P05121 | DB00031 | Tenecteplase | Plasminogen activator inhibitor 1 | biotech | approved | |
| P05121 | DB00015 | Reteplase | Plasminogen activator inhibitor 1 | biotech | approved|investigational | |
| P05121 | DB00013 | Urokinase | Plasminogen activator inhibitor 1 | biotech | approved|investigational|withdrawn | |
| P05121 | DB00055 | Drotrecogin alfa | Plasminogen activator inhibitor 1 | biotech | approved|investigational|withdrawn |
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RelatedDiseases for SERPINE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SERPINE1 | C0020538 | Hypertensive disease | 2 | CTD_human |
| SERPINE1 | C0040053 | Thrombosis | 2 | CTD_human |
| SERPINE1 | C0004153 | Atherosclerosis | 1 | CTD_human |
| SERPINE1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| SERPINE1 | C0004943 | Behcet Syndrome | 1 | CTD_human |
| SERPINE1 | C0008370 | Cholestasis | 1 | CTD_human |
| SERPINE1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| SERPINE1 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| SERPINE1 | C0015695 | Fatty Liver | 1 | CTD_human |
| SERPINE1 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| SERPINE1 | C0018801 | Heart failure | 1 | CTD_human |
| SERPINE1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| SERPINE1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| SERPINE1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| SERPINE1 | C0027765 | nervous system disorder | 1 | CTD_human |
| SERPINE1 | C0028754 | Obesity | 1 | CTD_human |
| SERPINE1 | C0032914 | Pre-Eclampsia | 1 | CTD_human |
| SERPINE1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| SERPINE1 | C0035228 | Respiratory Hypersensitivity | 1 | CTD_human |
| SERPINE1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| SERPINE1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| SERPINE1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| SERPINE1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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