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Fusion gene ID: 25684 |
FusionGeneSummary for P4HB_CPB1 |
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Fusion gene information | Fusion gene name: P4HB_CPB1 | Fusion gene ID: 25684 | Hgene | Tgene | Gene symbol | P4HB | CPB1 | Gene ID | 5034 | 1360 |
Gene name | prolyl 4-hydroxylase subunit beta | carboxypeptidase B1 | |
Synonyms | CLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB | CPB|PASP|PCPB | |
Cytomap | 17q25.3 | 3q24 | |
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 | carboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P07237 | P15086 | |
Ensembl transtripts involved in fusion gene | ENST00000331483, ENST00000576390, ENST00000439918, ENST00000472244, | ENST00000491148, ENST00000282957, ENST00000498639, | |
Fusion gene scores | * DoF score | 25 X 9 X 12=2700 | 21 X 24 X 3=1512 |
# samples | 27 | 19 | |
** MAII score | log2(27/2700*10)=-3.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/1512*10)=-2.99238681589013 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: P4HB [Title/Abstract] AND CPB1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | P4HB | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 7753822 |
![]() (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 | LD | BRCA | TCGA-AN-A041-01A | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000331483 | ENST00000491148 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-3CDS | ENST00000331483 | ENST00000282957 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-intron | ENST00000331483 | ENST00000498639 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
Frame-shift | ENST00000576390 | ENST00000491148 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
Frame-shift | ENST00000576390 | ENST00000282957 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
5CDS-intron | ENST00000576390 | ENST00000498639 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-3CDS | ENST00000439918 | ENST00000491148 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-3CDS | ENST00000439918 | ENST00000282957 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-intron | ENST00000439918 | ENST00000498639 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-3CDS | ENST00000472244 | ENST00000491148 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-3CDS | ENST00000472244 | ENST00000282957 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
intron-intron | ENST00000472244 | ENST00000498639 | P4HB | chr17 | 79817176 | - | CPB1 | chr3 | 148559610 | + |
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FusionProtFeatures for P4HB_CPB1 |
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Hgene | Tgene |
P4HB | CPB1 |
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}. |
![]() * 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_CPB1 |
![]() (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_CPB1 |
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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 | CPB1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for P4HB_CPB1 |
![]() (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 |
Tgene | CPB1 | P15086 | DB04272 | Citric Acid | Carboxypeptidase B | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for P4HB_CPB1 |
![]() (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 |