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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25682

FusionGeneSummary for P4HB_CLCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: P4HB_CLCN3
Fusion gene ID: 25682
HgeneTgene
Gene symbol

P4HB

CLCN3

Gene ID

5034

1182

Gene nameprolyl 4-hydroxylase subunit betachloride voltage-gated channel 3
SynonymsCLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHBCLC3|ClC-3
Cytomap

17q25.3

4q33

Type of geneprotein-codingprotein-coding
Descriptionprotein disulfide-isomerasecellular thyroid hormone-binding proteincollagen prolyl 4-hydroxylase betaglutathione-insulin transhydrogenasep55procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptideprolyl 4-hydroxylaH(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3
Modification date2018052320180523
UniProtAcc

P07237

P51790

Ensembl transtripts involved in fusion geneENST00000331483, ENST00000576390, 
ENST00000439918, ENST00000472244, 
ENST00000513761, ENST00000347613, 
ENST00000360642, ENST00000504131, 
ENST00000506924, 
Fusion gene scores* DoF score25 X 9 X 12=270036 X 4 X 19=2736
# samples 2739
** MAII scorelog2(27/2700*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/2736*10)=-2.81052220113629
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: P4HB [Title/Abstract] AND CLCN3 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneP4HB

GO:0018401

peptidyl-proline hydroxylation to 4-hydroxy-L-proline

7753822

TgeneCLCN3

GO:1902476

chloride transmembrane transport

11274166


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-E7-A677-01AP4HBchr17

79801037

-CLCN3chr4

170623929

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000331483ENST00000513761P4HBchr17

79801037

-CLCN3chr4

170623929

+
5CDS-intronENST00000331483ENST00000347613P4HBchr17

79801037

-CLCN3chr4

170623929

+
5CDS-intronENST00000331483ENST00000360642P4HBchr17

79801037

-CLCN3chr4

170623929

+
5CDS-intronENST00000331483ENST00000504131P4HBchr17

79801037

-CLCN3chr4

170623929

+
5CDS-intronENST00000331483ENST00000506924P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000576390ENST00000513761P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000576390ENST00000347613P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000576390ENST00000360642P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000576390ENST00000504131P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000576390ENST00000506924P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000439918ENST00000513761P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000439918ENST00000347613P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000439918ENST00000360642P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000439918ENST00000504131P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000439918ENST00000506924P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000472244ENST00000513761P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000472244ENST00000347613P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000472244ENST00000360642P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000472244ENST00000504131P4HBchr17

79801037

-CLCN3chr4

170623929

+
intron-intronENST00000472244ENST00000506924P4HBchr17

79801037

-CLCN3chr4

170623929

+

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FusionProtFeatures for P4HB_CLCN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
P4HB

P07237

CLCN3

P51790

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}. Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for P4HB_CLCN3


check button 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_CLCN3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
P4HBUBQLN1, 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, BRCA1CLCN3CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for P4HB_CLCN3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneP4HBP07237DB01593ZincProtein disulfide-isomerasesmall moleculeapproved|investigational
HgeneP4HBP07237DB03615RibostamycinProtein disulfide-isomerasesmall moleculeapproved|investigational
HgeneP4HBP07237DB11638ArtenimolProtein disulfide-isomerasesmall moleculeapproved|investigational

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RelatedDiseases for P4HB_CLCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneP4HBC0029456Osteoporosis1CTD_human
HgeneP4HBC0033578Prostatic Neoplasms1CTD_human
HgeneP4HBC0151744Myocardial Ischemia1CTD_human
HgeneP4HBC1846707SPINOCEREBELLAR ATAXIA 171CTD_human
HgeneP4HBC1862178Cole Carpenter syndrome1ORPHANET;UNIPROT
TgeneCLCN3C0017638Glioma1CTD_human
TgeneCLCN3C0038356Stomach Neoplasms1CTD_human
TgeneCLCN3C2931822Nasopharyngeal carcinoma1CTD_human