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Fusion gene ID: 42172 |
FusionGeneSummary for XPNPEP3_USO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: XPNPEP3_USO1 | Fusion gene ID: 42172 | Hgene | Tgene | Gene symbol | XPNPEP3 | USO1 | Gene ID | 63929 | 8615 |
| Gene name | X-prolyl aminopeptidase 3 | USO1 vesicle transport factor | |
| Synonyms | APP3|ICP55|NPHPL1 | P115|TAP|VDP | |
| Cytomap | 22q13.2 | 4q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | xaa-Pro aminopeptidase 3Intermediate Cleaving Peptidase 55X-Pro aminopeptidase 3X-prolyl aminopeptidase 3, mitochondrialprobable Xaa-Pro aminopeptidase 3 | general vesicular transport factor p115USO1 vesicle docking protein homologtranscytosis associated proteinvesicle docking protein p115 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q9NQH7 | O60763 | |
| Ensembl transtripts involved in fusion gene | ENST00000541156, ENST00000357137, ENST00000544094, ENST00000414396, ENST00000482652, | ENST00000538159, ENST00000514213, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 4 X 4 X 3=48 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: XPNPEP3 [Title/Abstract] AND USO1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | XPNPEP3 | GO:0006508 | proteolysis | 28476889 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AI635379 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000541156 | ENST00000538159 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| intron-3CDS | ENST00000541156 | ENST00000514213 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| intron-3CDS | ENST00000357137 | ENST00000538159 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| intron-3CDS | ENST00000357137 | ENST00000514213 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| 5UTR-3CDS | ENST00000544094 | ENST00000538159 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| 5UTR-3CDS | ENST00000544094 | ENST00000514213 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| intron-3CDS | ENST00000414396 | ENST00000538159 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| intron-3CDS | ENST00000414396 | ENST00000514213 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| 3UTR-3CDS | ENST00000482652 | ENST00000538159 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
| 3UTR-3CDS | ENST00000482652 | ENST00000514213 | XPNPEP3 | chr22 | 41258321 | - | USO1 | chr4 | 76692047 | - |
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FusionProtFeatures for XPNPEP3_USO1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| XPNPEP3 | USO1 |
| Catalyzes the removal of a penultimate prolyl residuefrom the N-termini of peptides, such as Leu-Pro-Ala(PubMed:25609706, PubMed:28476889). Also shows low activitytowards peptides with Ala or Ser at the P1 position(PubMed:28476889). {ECO:0000269|PubMed:25609706,ECO:0000269|PubMed:28476889}. Isoform 1: Promotes TNFRSF1B-mediated phosphorylation ofMAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapterprotein for TNFRSF1B; the effect is independent of XPNPEP3peptidase activity. May inhibit apoptotic cell death induced viaTNF-TNFRSF1B signaling. {ECO:0000269|PubMed:25609706}. | General vesicular transport factor required forintercisternal transport in the Golgi stack; it is required fortranscytotic fusion and/or subsequent binding of the vesicles tothe target membrane. May well act as a vesicular anchor byinteracting with the target membrane and holding the vesicular andtarget membranes in proximity. {ECO:0000250|UniProtKB:P41542}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for XPNPEP3_USO1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for XPNPEP3_USO1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for XPNPEP3_USO1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for XPNPEP3_USO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | XPNPEP3 | C3150419 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 | 1 | CTD_human;UNIPROT |
| Tgene | USO1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | USO1 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | USO1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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