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Fusion gene ID: 25696 |
FusionGeneSummary for P4HB_SEC63 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: P4HB_SEC63 | Fusion gene ID: 25696 | Hgene | Tgene | Gene symbol | P4HB | SEC63 | Gene ID | 5034 | 11231 |
| Gene name | prolyl 4-hydroxylase subunit beta | SEC63 homolog, protein translocation regulator | |
| Synonyms | CLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
| Cytomap | 17q25.3 | 6q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein disulfide-isomerasecellular thyroid hormone-binding proteincollagen prolyl 4-hydroxylase betaglutathione-insulin transhydrogenasep55procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptideprolyl 4-hydroxyla | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P07237 | Q9UGP8 | |
| Ensembl transtripts involved in fusion gene | ENST00000331483, ENST00000576390, ENST00000439918, ENST00000472244, | ENST00000369002, ENST00000460009, | |
| Fusion gene scores | * DoF score | 25 X 9 X 12=2700 | 30 X 6 X 14=2520 |
| # samples | 27 | 33 | |
| ** MAII score | log2(27/2700*10)=-3.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/2520*10)=-2.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: P4HB [Title/Abstract] AND SEC63 [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 | P4HB | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 7753822 |
| 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 | PRAD | TCGA-HC-8256-01A | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| * 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 |
| Frame-shift | ENST00000331483 | ENST00000369002 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| 5CDS-intron | ENST00000331483 | ENST00000460009 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-3CDS | ENST00000576390 | ENST00000369002 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000576390 | ENST00000460009 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-3CDS | ENST00000439918 | ENST00000369002 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000439918 | ENST00000460009 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-3CDS | ENST00000472244 | ENST00000369002 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000472244 | ENST00000460009 | P4HB | chr17 | 79801037 | - | SEC63 | chr6 | 108214782 | - |
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FusionProtFeatures for P4HB_SEC63 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| P4HB | SEC63 |
| This multifunctional protein catalyzes the formation,breakage and rearrangement of disulfide bonds. At the cellsurface, seems to act as a reductase that cleaves disulfide bondsof proteins attached to the cell. May therefore cause structuralmodifications of exofacial proteins. Inside the cell, seems toform/rearrange disulfide bonds of nascent proteins. At highconcentrations, functions as a chaperone that inhibits aggregationof misfolded proteins. At low concentrations, facilitatesaggregation (anti-chaperone activity). May be involved with otherchaperones in the structural modification of the TG precursor inhormone biogenesis. Also acts a structural subunit of variousenzymes such as prolyl 4-hydroxylase and microsomaltriacylglycerol transfer protein MTTP. Receptor for LGALS9; theinteraction retains P4HB at the cell surface of Th2 T helpercells, increasing disulfide reductase activity at the plasmamembrane, altering the plasma membrane redox state and enhancingcell migration (PubMed:21670307). {ECO:0000269|PubMed:10636893,ECO:0000269|PubMed:12485997, ECO:0000269|PubMed:21670307}. | Required for integral membrane and secreted preproteintranslocation across the endoplasmic reticulum membrane. |
| 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 P4HB_SEC63 |
| 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 P4HB_SEC63 |
| 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 |
| P4HB | UBQLN1, TRIP6, EIF4A2, CUL2, ELF3, PUF60, CD2BP2, TNFRSF14, FEZ1, PTN, TG, ERO1L, ERO1LB, H2AFX, HDAC5, PSMA3, ARRB1, ARRB2, SIRT7, CUL3, CDK2, FBXO6, LMAN1, HSPA5, PDIA6, PPIB, PDIA4, HSP90B1, ATP5B, ATP5A1, SURF4, CCT4, SERPINH1, GANAB, TXNL1, CALR, TMED9, PRKCSH, CCT7, ATF2, UBL4A, CXCR4, BAG3, EGFR, CSNK2A2, HNRNPD, PARK2, CALU, ACAA2, CLNS1A, P3H1, PABPC1, TPD52L2, UBA2, UBQLN2, USP5, PFDN2, PLIN3, PSMD9, TCEAL4, AGO2, P4HB, CUL7, CCDC8, EZH2, SUZ12, RNF2, BMI1, ARAF, ESR1, TRIM4, SUCO, ZNF292, P4HA2, ZBTB2, HNRNPA1, LGALS9, ITGB3, DNAJC3, GSTO1, HSD17B10, HSPD1, NACA2, P4HA1, BCAP29, CLIC4, ENO1, ENO3, EZR, GLRX3, HSP90AA1, HSP90AB1, MSN, PCNA, PDIA3, PGD, RDX, SAFB, TKT, UQCRC2, PRPF40B, PSMA7, RCN1, UCHL3, VCP, NTRK1, EWSR1, TCTN3, CEP104, TCTN1, PPME1, CCDC6, SYMPK, EDEM1, RBM8A, CPSF3, FIP1L1, MTTP, MCM2, UBXN10, U2AF2, IAPP, VWF, GPX7, PTPRN, ACP5, DUSP13, GXYLT1, P4HA3, PTPRO, NEK7, PDHA1, SOD1, BRCA1 | SEC63 | GSTK1, IRF1, PMF1, SPA17, GPR183, RFX3, GPRC5D, SKAP1, ACADM, RPS5, ABCC1, DDOST, KPNA4, SEC61A1, NTRK1, TP53, OFD1, TCTN2, TCTN3, NPHP1, RPGRIP1L, EVC2, TCTN1, TMEM17, TMEM216, HSPA5, SENP3, CDKN3, YIPF3, HTR2C, ARFGAP1, BIN3, GPRC5B, TPTE, NR3C1, TRIM25 |
| - 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 P4HB_SEC63 |
| 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 | P4HB | P07237 | DB01593 | Zinc | Protein disulfide-isomerase | small molecule | approved|investigational |
| Hgene | P4HB | P07237 | DB03615 | Ribostamycin | Protein disulfide-isomerase | small molecule | approved|investigational |
| Hgene | P4HB | P07237 | DB11638 | Artenimol | Protein disulfide-isomerase | small molecule | approved|investigational |
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RelatedDiseases for P4HB_SEC63 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | P4HB | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | P4HB | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | P4HB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | P4HB | C1846707 | SPINOCEREBELLAR ATAXIA 17 | 1 | CTD_human |
| Hgene | P4HB | C1862178 | Cole Carpenter syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | SEC63 | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human |
| Tgene | SEC63 | C0158683 | Polycystic liver disease | 1 | CTD_human;HPO;ORPHANET |
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