|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27862 |
FusionGeneSummary for PNPO_NPEPPS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PNPO_NPEPPS | Fusion gene ID: 27862 | Hgene | Tgene | Gene symbol | PNPO | NPEPPS | Gene ID | 55163 | 9520 |
| Gene name | pyridoxamine 5'-phosphate oxidase | aminopeptidase puromycin sensitive | |
| Synonyms | HEL-S-302|PDXPO | AAP-S|MP100|PSA | |
| Cytomap | 17q21.32 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyridoxine-5'-phosphate oxidaseepididymis secretory protein Li 302pyridoxal 5'-phosphate synthasepyridoxamine-phosphate oxidasepyridoxine 5'-phosphate oxidase | puromycin-sensitive aminopeptidasecytosol alanyl aminopeptidasemetalloproteinase MP100 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NVS9 | P55786 | |
| Ensembl transtripts involved in fusion gene | ENST00000544840, ENST00000434554, ENST00000225573, ENST00000534893, | ENST00000525037, ENST00000530173, ENST00000322157, ENST00000544660, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 9 X 9 X 7=567 |
| # samples | 4 | 10 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/567*10)=-2.5033487351675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PNPO [Title/Abstract] AND NPEPPS [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 | PNPO | GO:0042823 | pyridoxal phosphate biosynthetic process | 12824491 |
| Tgene | NPEPPS | GO:0071456 | cellular response to hypoxia | 21056661 |
| 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 |
| TCGA | RV | BRCA | TCGA-BH-A0BP-01A | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| * 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 |
| 5CDS-3UTR | ENST00000544840 | ENST00000525037 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000544840 | ENST00000530173 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000544840 | ENST00000322157 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000544840 | ENST00000544660 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000434554 | ENST00000525037 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000434554 | ENST00000530173 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000434554 | ENST00000322157 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000434554 | ENST00000544660 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000225573 | ENST00000525037 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000225573 | ENST00000530173 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000225573 | ENST00000322157 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| 5CDS-3UTR | ENST00000225573 | ENST00000544660 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| intron-3UTR | ENST00000534893 | ENST00000525037 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| intron-3UTR | ENST00000534893 | ENST00000530173 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| intron-3UTR | ENST00000534893 | ENST00000322157 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
| intron-3UTR | ENST00000534893 | ENST00000544660 | PNPO | chr17 | 46020796 | + | NPEPPS | chr17 | 45669322 | + |
Top |
FusionProtFeatures for PNPO_NPEPPS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PNPO | NPEPPS |
| Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal5'-phosphate (PLP). {ECO:0000269|PubMed:12824491}. | Aminopeptidase with broad substrate specificity forseveral peptides. Involved in proteolytic events essential forcell growth and viability. May act as regulator of neuropeptideactivity. Plays a role in the antigen-processing pathway for MHCclass I molecules. Involved in the N-terminal trimming ofcytotoxic T-cell epitope precursors. Digests the poly-Q peptidesfound in many cellular proteins. Digests tau from normal brainmore efficiently than tau from Alzheimer disease brain.{ECO:0000269|PubMed:10978616, ECO:0000269|PubMed:11062501,ECO:0000269|PubMed:17154549, ECO:0000269|PubMed:17318184,ECO:0000269|PubMed:19917696}. |
| 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 |
Top |
FusionGeneSequence for PNPO_NPEPPS |
| 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). |
Top |
FusionGenePPI for PNPO_NPEPPS |
| 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 |
| PNPO | ELAVL1, APP, LPP, ARL6IP6, MOK, FBXO25, MTERF1, ECE2, FH, GMPPB, HSPE1, DERA, ERP44, TANGO2, PRCP, RABIF, SUGT1, TALDO1, TXNRD1, MYO1C, SLC25A32, FGB | NPEPPS | EIF6, OTUD4, DMWD, CLN3, GBAS, RYK, HDAC5, SIRT7, FBXO25, CUL3, CDK2, UBA6, STRAP, ECT2, CAMKMT, CFTR, FBXO6, CNDP2, NANS, CKB, CSE1L, DAK, FTO, GBP1, LDHB, METAP2, PAK2, PDIA3, RPLP2, PFAS, RPS6KA1, RPS6KA3, SCLY, SLC9A3R1, TGM2, UBFD1, ZNF622, PHKG2, STAU1, CUL7, CCDC8, FAF2, DYNLT1, STXBP1, NTRK1, MED20, FAM204A, ZNF746, LRRC8E, TRIM25, CCND2, BRCA1, CDK20 |
| - 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 |
Top |
RelatedDrugs for PNPO_NPEPPS |
| 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 |
| Hgene | PNPO | Q9NVS9 | DB00114 | Pyridoxal Phosphate | Pyridoxine-5'-phosphate oxidase | small molecule | approved|investigational|nutraceutical |
| Tgene | NPEPPS | P55786 | DB11638 | Artenimol | Puromycin-sensitive aminopeptidase | small molecule | approved|investigational |
Top |
RelatedDiseases for PNPO_NPEPPS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PNPO | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | PNPO | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | PNPO | C1864723 | Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|