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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NPEPPS |
 Gene summary |
| Gene information | Gene symbol | NPEPPS | Gene ID | 9520 |
| Gene name | aminopeptidase puromycin sensitive | |
| Synonyms | AAP-S|MP100|PSA | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | puromycin-sensitive aminopeptidasecytosol alanyl aminopeptidasemetalloproteinase MP100 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 16950154(A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NPEPPS | GO:0071456 | cellular response to hypoxia | 21056661 |
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Gene structures and expression levels for NPEPPS |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000141279
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000534807.1 | NPEPPS-223:retained_intron:NPEPPS | 2.451519e+01 | 8.315227e-01 | 3.724098e-13 | 6.518903e-11 |
| CB | UP | ENST00000525007.5 | NPEPPS-202:protein_coding:NPEPPS | 4.673794e+00 | 8.568270e-01 | 4.551991e-06 | 5.412408e-05 |
| CB | UP | ENST00000530514.5 | NPEPPS-216:nonsense_mediated_decay:NPEPPS | 3.133514e+02 | 8.928446e-01 | 1.642418e-03 | 7.824110e-03 |
| CB | DOWN | ENST00000525021.1 | NPEPPS-203:retained_intron:NPEPPS | 2.117711e+00 | -2.059274e+00 | 3.002589e-03 | 1.291696e-02 |
| TC | UP | ENST00000530514.5 | NPEPPS-216:nonsense_mediated_decay:NPEPPS | 1.470739e+02 | 8.836636e-01 | 2.687078e-04 | 3.529975e-03 |
| TC | DOWN | ENST00000525021.1 | NPEPPS-203:retained_intron:NPEPPS | 9.382798e-01 | -2.293247e+00 | 3.875790e-03 | 2.765754e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NPEPPS |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101625 | chr17 | 47590717:47590881:47591956:47592060:47592485:47592545 | 47591956:47592060 |
| exon_skip_107898 | chr17 | 47586148:47586244:47586365:47586398:47587230:47587344 | 47586365:47586398 |
| exon_skip_143082 | chr17 | 47582593:47582712:47582827:47582849:47585500:47585507 | 47582827:47582849 |
| exon_skip_145191 | chr17 | 47585714:47585745:47586365:47586398:47587230:47587344 | 47586365:47586398 |
| exon_skip_145326 | chr17 | 47612460:47612602:47613669:47613725:47618350:47618429 | 47613669:47613725 |
| exon_skip_157576 | chr17 | 47590717:47590881:47591904:47592060:47592485:47592545 | 47591904:47592060 |
| exon_skip_165044 | chr17 | 47601716:47601747:47603915:47604049:47605466:47605552 | 47603915:47604049 |
| exon_skip_165703 | chr17 | 47619009:47619164:47619737:47619784:47621768:47621968 | 47619737:47619784 |
| exon_skip_168520 | chr17 | 47599676:47599739:47601608:47601747:47603915:47604049 | 47601608:47601747 |
| exon_skip_178284 | chr17 | 47585500:47585700:47586148:47586244:47586365:47586398 | 47586148:47586244 |
| exon_skip_179895 | chr17 | 47545909:47545993:47559612:47559687:47569417:47569493 | 47559612:47559687 |
| exon_skip_181768 | chr17 | 47522945:47523063:47531390:47531555:47545909:47545993 | 47531390:47531555 |
| exon_skip_190948 | chr17 | 47596353:47596462:47599676:47599739:47601608:47601747 | 47599676:47599739 |
| exon_skip_199760 | chr17 | 47579390:47579511:47582742:47582849:47585500:47585507 | 47582742:47582849 |
| exon_skip_23581 | chr17 | 47619071:47619164:47619737:47619784:47621768:47621968 | 47619737:47619784 |
| exon_skip_27651 | chr17 | 47569429:47569494:47579390:47579511:47582742:47582772 | 47579390:47579511 |
| exon_skip_277047 | chr17 | 47619009:47619164:47619278:47619322:47619737:47619784 | 47619278:47619322 |
| exon_skip_282064 | chr17 | 47545909:47545993:47559612:47559687:47569417:47569494 | 47559612:47559687 |
| exon_skip_290724 | chr17 | 47569429:47569494:47577081:47577160:47579390:47579426 | 47577081:47577160 |
| exon_skip_33825 | chr17 | 47569429:47569494:47577045:47577160:47579390:47579426 | 47577045:47577160 |
| exon_skip_397 | chr17 | 47591956:47592060:47592485:47592545:47596353:47596462 | 47592485:47592545 |
| exon_skip_41775 | chr17 | 47579390:47579455:47582742:47582849:47585500:47585507 | 47582742:47582849 |
| exon_skip_426 | chr17 | 47592485:47592545:47596353:47596462:47599676:47599739 | 47596353:47596462 |
| exon_skip_5217 | chr17 | 47569429:47569494:47579390:47579455:47582742:47582772 | 47579390:47579455 |
| exon_skip_67860 | chr17 | 47585714:47585745:47586148:47586244:47586365:47586398 | 47586148:47586244 |
| exon_skip_72519 | chr17 | 47569417:47569494:47577081:47577160:47579390:47579426 | 47577081:47577160 |
| exon_skip_73848 | chr17 | 47619071:47619164:47619278:47619322:47619737:47619784 | 47619278:47619322 |
| exon_skip_75012 | chr17 | 47619013:47619164:47619278:47619322:47619737:47619784 | 47619278:47619322 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NPEPPS |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322157 | 47579390 | 47579511 | Frame-shift |
| ENST00000322157 | 47586365 | 47586398 | Frame-shift |
| ENST00000322157 | 47592485 | 47592545 | Frame-shift |
| ENST00000322157 | 47596353 | 47596462 | Frame-shift |
| ENST00000322157 | 47599676 | 47599739 | Frame-shift |
| ENST00000322157 | 47582742 | 47582849 | In-frame |
| ENST00000322157 | 47591956 | 47592060 | In-frame |
| ENST00000322157 | 47613669 | 47613725 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322157 | 47586365 | 47586398 | Frame-shift |
| ENST00000322157 | 47596353 | 47596462 | Frame-shift |
| ENST00000322157 | 47591956 | 47592060 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322157 | 47586148 | 47586244 | Frame-shift |
| ENST00000322157 | 47586365 | 47586398 | Frame-shift |
| ENST00000322157 | 47592485 | 47592545 | Frame-shift |
| ENST00000322157 | 47596353 | 47596462 | Frame-shift |
| ENST00000322157 | 47599676 | 47599739 | Frame-shift |
| ENST00000322157 | 47601608 | 47601747 | Frame-shift |
| ENST00000322157 | 47582742 | 47582849 | In-frame |
| ENST00000322157 | 47591956 | 47592060 | In-frame |
| ENST00000322157 | 47613669 | 47613725 | In-frame |
| ENST00000322157 | 47619737 | 47619784 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NPEPPS |
p-ENSG00000141279_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000322157 | 4370 | 919 | 47582742 | 47582849 | 779 | 885 | 180 | 216 |
| ENST00000322157 | 4370 | 919 | 47591956 | 47592060 | 1499 | 1602 | 420 | 455 |
| ENST00000322157 | 4370 | 919 | 47613669 | 47613725 | 2477 | 2532 | 746 | 765 |
| Loci of skipped exons in MSBB 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 |
| ENST00000322157 | 4370 | 919 | 47591956 | 47592060 | 1499 | 1602 | 420 | 455 |
| Loci of skipped exons in Mayo 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 |
| ENST00000322157 | 4370 | 919 | 47582742 | 47582849 | 779 | 885 | 180 | 216 |
| ENST00000322157 | 4370 | 919 | 47591956 | 47592060 | 1499 | 1602 | 420 | 455 |
| ENST00000322157 | 4370 | 919 | 47613669 | 47613725 | 2477 | 2532 | 746 | 765 |
| ENST00000322157 | 4370 | 919 | 47619737 | 47619784 | 2798 | 2844 | 853 | 869 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P55786 | 180 | 216 | 181 | 216 | Alternative sequence | ID=VSP_056447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P55786 | 180 | 216 | 180 | 180 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55786 | 180 | 216 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 180 | 216 | 184 | 184 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55786 | 420 | 455 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 420 | 455 | 438 | 438 | Mutagenesis | Note=Reduces catalytic activity by 1%2C000-fold to 2%2C500-fold. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12729622;Dbxref=PMID:12729622 |
| P55786 | 420 | 455 | 438 | 438 | Site | Note=Transition state stabilizer;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55786 | 746 | 765 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P55786 | 420 | 455 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 420 | 455 | 438 | 438 | Mutagenesis | Note=Reduces catalytic activity by 1%2C000-fold to 2%2C500-fold. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12729622;Dbxref=PMID:12729622 |
| P55786 | 420 | 455 | 438 | 438 | Site | Note=Transition state stabilizer;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P55786 | 180 | 216 | 181 | 216 | Alternative sequence | ID=VSP_056447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P55786 | 180 | 216 | 180 | 180 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55786 | 180 | 216 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 180 | 216 | 184 | 184 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55786 | 420 | 455 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 420 | 455 | 438 | 438 | Mutagenesis | Note=Reduces catalytic activity by 1%2C000-fold to 2%2C500-fold. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12729622;Dbxref=PMID:12729622 |
| P55786 | 420 | 455 | 438 | 438 | Site | Note=Transition state stabilizer;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55786 | 746 | 765 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
| P55786 | 853 | 869 | 1 | 919 | Chain | ID=PRO_0000095116;Note=Puromycin-sensitive aminopeptidase |
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3'-UTR located exon skipping events that lost miRNA binding sites in NPEPPS |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NPEPPS |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for NPEPPS |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NPEPPS |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NPEPPS |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_33825 | -5.456375e-01 | 1.026168e-13 |
| CB | ELAVL1 | exon_skip_33825 | -4.733629e-01 | 2.951685e-10 |
| CB | CNOT4 | exon_skip_33825 | -6.000612e-01 | 6.332730e-17 |
| CB | MATR3 | exon_skip_33825 | -5.547498e-01 | 3.266105e-14 |
| CB | FUBP1 | exon_skip_33825 | -5.110929e-01 | 5.834597e-12 |
| CB | KHSRP | exon_skip_33825 | -4.114053e-01 | 7.157517e-08 |
| CB | RBM41 | exon_skip_33825 | -4.180999e-01 | 4.164303e-08 |
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RelatedDrugs for NPEPPS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NPEPPS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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