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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 SLPI |
 Gene summary |
| Gene information | Gene symbol | SLPI | Gene ID | 6590 |
| Gene name | secretory leukocyte peptidase inhibitor | |
| Synonyms | ALK1|ALP|BLPI|HUSI|HUSI-I|MPI|WAP4|WFDC4 | |
| Cytomap | 20q13.12 | |
| Type of gene | protein-coding | |
| Description | antileukoproteinaseHUSI-1WAP four-disulfide core domain protein 4mucus proteinase inhibitorprotease inhibitor WAP4secretory leukocyte protease inhibitor (antileukoproteinase)seminal proteinase inhibitor | |
| Modification date | 20180519 | |
| UniProtAcc | P03973 | |
| Context | PubMed: SLPI [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 |
| SLPI | GO:0019731 | antibacterial humoral response | 18714013 |
| SLPI | GO:0032091 | negative regulation of protein binding | 19333378 |
| SLPI | GO:0035821 | modification of morphology or physiology of other organism | 2467900 |
| SLPI | GO:0045071 | negative regulation of viral genome replication | 19333378 |
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Exon skipping events across known transcript of Ensembl for SLPI 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 SLPI |
| 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 SLPI |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357297 | 20 | 43880992:43881060:43881642:43881792:43882215:43882374 | 43881642:43881792 | ENSG00000124107.5 | ENST00000338380.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLPI |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357297 | 20 | 43880992:43881060:43881642:43881792:43882215:43882374 | 43881642:43881792 | ENSG00000124107.5 | ENST00000338380.2 |
| 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 SLPI |
| 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 |
| ENST00000338380 | 43881642 | 43881792 | 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 |
| ENST00000338380 | 43881642 | 43881792 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLPI |
| 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 |
| ENST00000338380 | 613 | 132 | 43881642 | 43881792 | 266 | 415 | 81 | 131 |
| 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 |
| ENST00000338380 | 613 | 132 | 43881642 | 43881792 | 266 | 415 | 81 | 131 |
| 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 |
| P03973 | 81 | 131 | 86 | 88 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 95 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 116 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 123 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 26 | 132 | Chain | ID=PRO_0000041355;Note=Antileukoproteinase |
| P03973 | 81 | 131 | 89 | 118 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 96 | 122 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 105 | 117 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 111 | 126 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 82 | 130 | Domain | Note=WAP 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00722 |
| P03973 | 81 | 131 | 108 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Increases inhibition of chymotrypsin. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Reduced inhibition of elastase. Strongly reduced inhibition of chymotrypsin and trypsin. L->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Strongly reduced inhibition of elastase. Abolishes inhibition of trypsin. L->K%2CR;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 98 | 98 | Mutagenesis | Note=No significant effect on inhibition of elastase%2C trypsin and chymotrypsin. M->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2110563;Dbxref=PMID:2110563 |
| P03973 | 81 | 131 | 99 | 99 | Mutagenesis | Note=No significant effect on inhibition of elastase%2C trypsin and chymotrypsin. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2110563;Dbxref=PMID:2110563 |
| P03973 | 81 | 131 | 84 | 132 | Region | Note=Elastase inhibitory domain |
| P03973 | 81 | 131 | 97 | 98 | Site | Note=Reactive bond for chymotrypsin%2C trypsin and elastase;Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:18421166,ECO:0000305|PubMed:24121345,ECO:0000305|PubMed:3366116;Dbxref=PMID:18421166,PMID:24121345,PMID:3366116 |
| 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 |
| P03973 | 81 | 131 | 86 | 88 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 95 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 116 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 123 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 26 | 132 | Chain | ID=PRO_0000041355;Note=Antileukoproteinase |
| P03973 | 81 | 131 | 89 | 118 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 96 | 122 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 105 | 117 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 111 | 126 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2Z7F,ECO:0000244|PDB:4DOQ,ECO:0000269|PubMed:3366116;Dbxref=PMID:3366116 |
| P03973 | 81 | 131 | 82 | 130 | Domain | Note=WAP 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00722 |
| P03973 | 81 | 131 | 108 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z7F |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Increases inhibition of chymotrypsin. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Reduced inhibition of elastase. Strongly reduced inhibition of chymotrypsin and trypsin. L->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 97 | 97 | Mutagenesis | Note=Strongly reduced inhibition of elastase. Abolishes inhibition of trypsin. L->K%2CR;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10702419,ECO:0000269|PubMed:2110563;Dbxref=PMID:10702419,PMID:2110563 |
| P03973 | 81 | 131 | 98 | 98 | Mutagenesis | Note=No significant effect on inhibition of elastase%2C trypsin and chymotrypsin. M->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2110563;Dbxref=PMID:2110563 |
| P03973 | 81 | 131 | 99 | 99 | Mutagenesis | Note=No significant effect on inhibition of elastase%2C trypsin and chymotrypsin. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2110563;Dbxref=PMID:2110563 |
| P03973 | 81 | 131 | 84 | 132 | Region | Note=Elastase inhibitory domain |
| P03973 | 81 | 131 | 97 | 98 | Site | Note=Reactive bond for chymotrypsin%2C trypsin and elastase;Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:18421166,ECO:0000305|PubMed:24121345,ECO:0000305|PubMed:3366116;Dbxref=PMID:18421166,PMID:24121345,PMID:3366116 |
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SNVs in the skipped exons for SLPI |
| - 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-6889-01 | exon_skip_357297 | 43881643 | 43881792 | 43881731 | 43881731 | Frame_Shift_Del | G | - | p.N103fs |
| STAD | TCGA-HF-7132-01 | exon_skip_357297 | 43881643 | 43881792 | 43881731 | 43881731 | Frame_Shift_Del | G | - | p.N103fs |
| BLCA | TCGA-ZF-A9RL-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.N103fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.N103fs |
| KIRC | TCGA-A3-3319-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-A3-3365-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-A3-3380-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3427-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3440-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3443-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3444-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AK-3453-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-35-3615-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-44-2656-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-44-2656-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.P102fs |
| LUAD | TCGA-44-2659-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-44-2666-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-55-1592-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-55-1596-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| LUAD | TCGA-64-1678-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.P102fs |
| LUAD | TCGA-67-3770-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.F103fs |
| STAD | TCGA-CG-5728-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.N103fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.P102fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_357297 | 43881643 | 43881792 | 43881730 | 43881731 | Frame_Shift_Ins | - | G | p.P102fs |
| STAD | TCGA-CG-5728-01 | exon_skip_357297 | 43881643 | 43881792 | 43881731 | 43881732 | Frame_Shift_Ins | - | G | p.P102fs |
| - 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 |
| MFE319_ENDOMETRIUM | 43881643 | 43881792 | 43881700 | 43881700 | Missense_Mutation | G | A | p.R113C |
| HEC108_ENDOMETRIUM | 43881643 | 43881792 | 43881736 | 43881736 | Missense_Mutation | G | T | p.P101T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLPI |
| 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 SLPI |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLPI |
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RelatedDrugs for SLPI |
| 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 SLPI |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLPI | C0035126 | Reperfusion Injury | 1 | CTD_human |
| SLPI | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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