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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: 25686

FusionGeneSummary for P4HB_ERBB3

check button Fusion gene summary
Fusion gene informationFusion gene name: P4HB_ERBB3
Fusion gene ID: 25686
HgeneTgene
Gene symbol

P4HB

ERBB3

Gene ID

5034

2065

Gene nameprolyl 4-hydroxylase subunit betaerb-b2 receptor tyrosine kinase 3
SynonymsCLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHBErbB-3|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3
Cytomap

17q25.3

12q13.2

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-hydroxylareceptor tyrosine-protein kinase erbB-3human epidermal growth factor receptor 3proto-oncogene-like protein c-ErbB-3tyrosine kinase-type cell surface receptor HER3v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3
Modification date2018052320180527
UniProtAcc

P07237

P21860

Ensembl transtripts involved in fusion geneENST00000331483, ENST00000576390, 
ENST00000439918, ENST00000472244, 
ENST00000267101, ENST00000450146, 
ENST00000415288, ENST00000553131, 
ENST00000411731, ENST00000549832, 
Fusion gene scores* DoF score25 X 9 X 12=270025 X 8 X 14=2800
# samples 2725
** MAII scorelog2(27/2700*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(25/2800*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: P4HB [Title/Abstract] AND ERBB3 [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

TgeneERBB3

GO:0007162

negative regulation of cell adhesion

7556068

TgeneERBB3

GO:0007165

signal transduction

10572067

TgeneERBB3

GO:0009968

negative regulation of signal transduction

11389077

TgeneERBB3

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

TgeneERBB3

GO:0042127

regulation of cell proliferation

11389077

TgeneERBB3

GO:0051048

negative regulation of secretion

10559227


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
TCGARVACCTCGA-PK-A5H9-01AP4HBchr17

79801042

-ERBB3chr12

56492035

+
* 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
intron-intronENST00000331483ENST00000267101P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000331483ENST00000450146P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000331483ENST00000415288P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000331483ENST00000553131P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000331483ENST00000411731P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000331483ENST00000549832P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000267101P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000450146P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000415288P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000553131P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000411731P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000576390ENST00000549832P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000267101P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000450146P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000415288P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000553131P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000411731P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000439918ENST00000549832P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000267101P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000450146P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000415288P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000553131P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000411731P4HBchr17

79801042

-ERBB3chr12

56492035

+
intron-intronENST00000472244ENST00000549832P4HBchr17

79801042

-ERBB3chr12

56492035

+

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FusionProtFeatures for P4HB_ERBB3


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

P07237

ERBB3

P21860

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}. Tyrosine-protein kinase that plays an essential role ascell surface receptor for neuregulins. Binds to neuregulin-1(NRG1) and is activated by it; ligand-binding increasesphosphorylation on tyrosine residues and promotes its associationwith the p85 subunit of phosphatidylinositol 3-kinase(PubMed:20682778). May also be activated by CSPG5(PubMed:15358134). {ECO:0000269|PubMed:15358134,ECO:0000269|PubMed:20682778}.

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_ERBB3


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_ERBB3


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, BRCA1ERBB3GRB2, PIK3R2, CSK, SHC1, CD82, RGS4, ODF2L, GRB7, PA2G4, EGF, RNF41, NRG1, PIK3R1, IL6ST, PTK6, EGFR, MUC1, NRG2, ERBB2, RPN1, EGR1, ZNF207, HDAC6, LRIG1, MDM2, AKT1, PTPN11, HSP90AA1, NCK2, JAK2, SH2D1A, DAB1, ABL1, HCK, FGFR1, SRC, NCK1, FER, PLCG1, RASA1, TXK, ABL2, ZAP70, SYK, CRK, CRKL, JAK3, VAV2, CHN2, ITK, RIN1, BCAR3, TENC1, TNS3, TNS4, SHC3, PIK3R3, VAV1, VAV3, DAPP1, SH2B3, NEDD4, HLA-DPA1, UQCR10, B3GALTL, PDF, TUBA4A, TUBB8, HLA-A, YBEY, SLC31A1, EIF1AX, SRPK2, HLA-B, SLC25A5, SLC25A6, AIFM1, ANXA2, AP1M2, ATP5A1, B2M, C1QBP, CANX, CDC37, DNAJB11, DNAJA1, TUFM, ERBB3, GFAP, HSPA5, HNRNPH1, HNRNPH2, HNRNPF, HSP90AB1, HSPA8, LGALS3BP, MASP1, PHLDA1, PIK3CA, PIK3CB, PTCD3, RAE1, RPL23, RPS27, RPS27A, RPS27L, MRPS14, MRPS17, MRPS23, MRPS27, MRPS28, S100A10, SSR1, TUBB, ACTA2, ACTB, ACTBL2, POTEKP, ACTC1, ACTG1, ACTG2, ACTA1, HBA1, HBB, HBD, HBE1, HBG1, HBG2, HNRNPH3, HSPA1A, LRPPRC, PON2, POTEE, POTEF, HNRNPA2B1, HNRNPAB, MRPS18B, MRPS22, MRPS25, MRPS26, MRPS34, TUBA1B, PCGF1, DPPA4, NANOG, POU5F1, EPN1, L1CAM, MET, NEDD4L, PTK2B, NDRG1, CDH1, PTPRH, UQCRH, PPM1A, PPM1B, PPM1F, PPM1K, PPM1M, ILKAP, PTPRR, PTPN6, PTPN7, PTPN12, PTPN20B, DUSP14, DUSP18, DUSP19, DUSP21, DUPD1, STYX, PTPDC1, PTEN, TPTE, MTMR1, MTMR2, MTMR6, MTMR8, MTMR9, MTMR10, CDC25C, EYA4, CSPG5, HGS


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_ERBB3


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_ERBB3


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
TgeneERBB3C0036341Schizophrenia3PSYGENET
TgeneERBB3C0005586Bipolar Disorder1PSYGENET
TgeneERBB3C0011570Mental Depression1PSYGENET
TgeneERBB3C0016978gallbladder neoplasm1CTD_human
TgeneERBB3C0024121Lung Neoplasms1CTD_human
TgeneERBB3C0033578Prostatic Neoplasms1CTD_human
TgeneERBB3C0041696Unipolar Depression1PSYGENET
TgeneERBB3C1269683Major Depressive Disorder1PSYGENET
TgeneERBB3C1458155Mammary Neoplasms1CTD_human
TgeneERBB3C2931822Nasopharyngeal carcinoma1CTD_human