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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 XPNPEP2 |
 Gene summary |
| Gene information | Gene symbol | XPNPEP2 | Gene ID | 7512 |
| Gene name | X-prolyl aminopeptidase 2 | |
| Synonyms | AEACEI|APP2 | |
| Cytomap | Xq26.1 | |
| Type of gene | protein-coding | |
| Description | xaa-Pro aminopeptidase 2X-Pro aminopeptidase 2X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-boundaminoacylproline aminopeptidasemAmPmembrane-bound APPmembrane-bound AmPmembrane-bound aminopeptidase P | |
| Modification date | 20180522 | |
| UniProtAcc | O43895 | |
| Context | PubMed: XPNPEP2 [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 |
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Exon skipping events across known transcript of Ensembl for XPNPEP2 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 XPNPEP2 |
| 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 XPNPEP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512326 | X | 128872997:128873238:128876083:128876157:128877936:128878047 | 128876083:128876157 | ENSG00000122121.6 | ENST00000371106.3 |
| exon_skip_512329 | X | 128880570:128880657:128881582:128881729:128884443:128884545 | 128881582:128881729 | ENSG00000122121.6 | ENST00000371106.3 |
| exon_skip_512330 | X | 128896669:128896746:128901578:128901668:128902266:128903514 | 128901578:128901668 | ENSG00000122121.6 | ENST00000371106.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for XPNPEP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512326 | X | 128872997:128873238:128876083:128876157:128877936:128878047 | 128876083:128876157 | ENSG00000122121.6 | ENST00000371106.3 |
| exon_skip_512329 | X | 128880570:128880657:128881582:128881729:128884443:128884545 | 128881582:128881729 | ENSG00000122121.6 | ENST00000371106.3 |
| exon_skip_512330 | X | 128896669:128896746:128901578:128901668:128902266:128903514 | 128901578:128901668 | ENSG00000122121.6 | ENST00000371106.3 |
| 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 XPNPEP2 |
| 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 |
| ENST00000371106 | 128876083 | 128876157 | Frame-shift |
| ENST00000371106 | 128881582 | 128881729 | In-frame |
| ENST00000371106 | 128901578 | 128901668 | 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 |
| ENST00000371106 | 128876083 | 128876157 | Frame-shift |
| ENST00000371106 | 128881582 | 128881729 | In-frame |
| ENST00000371106 | 128901578 | 128901668 | In-frame |
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Infer the effects of exon skipping event on protein functional features for XPNPEP2 |
| 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 |
| ENST00000371106 | 3287 | 674 | 128881582 | 128881729 | 683 | 829 | 163 | 212 |
| ENST00000371106 | 3287 | 674 | 128901578 | 128901668 | 1933 | 2022 | 580 | 610 |
| 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 |
| ENST00000371106 | 3287 | 674 | 128881582 | 128881729 | 683 | 829 | 163 | 212 |
| ENST00000371106 | 3287 | 674 | 128901578 | 128901668 | 1933 | 2022 | 580 | 610 |
| 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 |
| O43895 | 163 | 212 | 22 | 649 | Chain | ID=PRO_0000026829;Note=Xaa-Pro aminopeptidase 2 |
| O43895 | 580 | 610 | 22 | 649 | Chain | ID=PRO_0000026829;Note=Xaa-Pro aminopeptidase 2 |
| 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 |
| O43895 | 163 | 212 | 22 | 649 | Chain | ID=PRO_0000026829;Note=Xaa-Pro aminopeptidase 2 |
| O43895 | 580 | 610 | 22 | 649 | Chain | ID=PRO_0000026829;Note=Xaa-Pro aminopeptidase 2 |
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SNVs in the skipped exons for XPNPEP2 |
| - 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 |
| CHOL | TCGA-ZH-A8Y2-01 | exon_skip_512329 | 128881583 | 128881729 | 128881717 | 128881717 | Nonsense_Mutation | G | T | p.E209* |
| CHOL | TCGA-ZH-A8Y2-01 | exon_skip_512329 | 128881583 | 128881729 | 128881717 | 128881717 | Nonsense_Mutation | G | T | p.E209X |
| - 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 |
| MS751_CERVIX | 128876084 | 128876157 | 128876110 | 128876110 | Missense_Mutation | G | T | p.V26L |
| HCC515_LUNG | 128876084 | 128876157 | 128876113 | 128876113 | Missense_Mutation | G | T | p.D27Y |
| CP67MEL_SKIN | 128876084 | 128876157 | 128876123 | 128876123 | Missense_Mutation | G | A | p.G30E |
| NCIH2087_LUNG | 128876084 | 128876157 | 128876155 | 128876155 | Missense_Mutation | C | A | p.P41T |
| NCIH1155_LUNG | 128881583 | 128881729 | 128881685 | 128881685 | Missense_Mutation | C | T | p.P198L |
| CCK81_LARGE_INTESTINE | 128901579 | 128901668 | 128901601 | 128901601 | Missense_Mutation | T | C | p.F588S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XPNPEP2 |
| 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 XPNPEP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XPNPEP2 |
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RelatedDrugs for XPNPEP2 |
| 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 XPNPEP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| XPNPEP2 | C0002994 | Angioedema | 1 | CTD_human |
| XPNPEP2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| XPNPEP2 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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