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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: 25697

FusionGeneSummary for P4HB_SNW1

check button Fusion gene summary
Fusion gene informationFusion gene name: P4HB_SNW1
Fusion gene ID: 25697
HgeneTgene
Gene symbol

P4HB

SNW1

Gene ID

5034

22938

Gene nameprolyl 4-hydroxylase subunit betaSNW domain containing 1
SynonymsCLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHBBx42|FUN20|NCOA-62|PRPF45|Prp45|SKIIP|SKIP|SKIP1
Cytomap

17q25.3

14q24.3

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-hydroxylaSNW domain-containing protein 1SKI interacting proteinhomolog of Drosophila BX42nuclear protein SkiPnuclear receptor coactivator NCoA-62nuclear receptor coactivator, 62-kDski-interacting protein
Modification date2018052320180519
UniProtAcc

P07237

Q13573

Ensembl transtripts involved in fusion geneENST00000331483, ENST00000576390, 
ENST00000439918, ENST00000472244, 
ENST00000261531, ENST00000554775, 
ENST00000555761, 
Fusion gene scores* DoF score25 X 9 X 12=270015 X 4 X 12=720
# samples 2716
** MAII scorelog2(27/2700*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: P4HB [Title/Abstract] AND SNW1 [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

TgeneSNW1

GO:0000122

negative regulation of transcription by RNA polymerase II

14985122

TgeneSNW1

GO:0000398

mRNA splicing, via spliceosome

15194481|28076346

TgeneSNW1

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11278756

TgeneSNW1

GO:0043923

positive regulation by host of viral transcription

15905409

TgeneSNW1

GO:0045892

negative regulation of transcription, DNA-templated

10713164|15878163

TgeneSNW1

GO:0045944

positive regulation of transcription by RNA polymerase II

14985122|19934264

TgeneSNW1

GO:0048384

retinoic acid receptor signaling pathway

19934264

TgeneSNW1

GO:0048385

regulation of retinoic acid receptor signaling pathway

14985122

TgeneSNW1

GO:0070562

regulation of vitamin D receptor signaling pathway

14985122

TgeneSNW1

GO:0070564

positive regulation of vitamin D receptor signaling pathway

9632709|11514567

TgeneSNW1

GO:0071300

cellular response to retinoic acid

19934264


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
TCGARVKIRCTCGA-CZ-5469-01AP4HBchr17

79801037

-SNW1chr14

78189203

-
* 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-intronENST00000331483ENST00000261531P4HBchr17

79801037

-SNW1chr14

78189203

-
5CDS-intronENST00000331483ENST00000554775P4HBchr17

79801037

-SNW1chr14

78189203

-
5CDS-intronENST00000331483ENST00000555761P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000576390ENST00000261531P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000576390ENST00000554775P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000576390ENST00000555761P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000439918ENST00000261531P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000439918ENST00000554775P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000439918ENST00000555761P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000472244ENST00000261531P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000472244ENST00000554775P4HBchr17

79801037

-SNW1chr14

78189203

-
intron-intronENST00000472244ENST00000555761P4HBchr17

79801037

-SNW1chr14

78189203

-

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FusionProtFeatures for P4HB_SNW1


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

P07237

SNW1

Q13573

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}. Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).Is required in the specific splicing of CDKN1A pre-mRNA; thefunction probably involves the recruitment of U2AF2 to the mRNA.Is proposed to recruit PPIL1 to the spliceosome. May be involvedin cyclin-D1/CCND1 mRNA stability through the SNARP complex whichassociates with both the 3'end of the CCND1 gene and its mRNA.Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediatedtranscriptional repression, and retinoid-X receptor (RXR)- andvitamin D receptor (VDR)-dependent gene transcription in a cellline-specific manner probably involving coactivators NCOA1 andGRIP1. Is involved in NOTCH1-mediated transcriptional activation.Binds to multimerized forms of Notch intracellular domain (NICD)and is proposed to recruit transcriptional coactivators such asMAML1 to form an intermediate preactivation complex whichassociates with DNA-bound CBF-1/RBPJ to form a transcriptionalactivation complex by releasing SNW1 and redundant NOTCH1 NICD.{ECO:0000269|PubMed:10644367, ECO:0000269|PubMed:11278756,ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:11514567,ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12840015,ECO:0000269|PubMed:14985122, ECO:0000269|PubMed:15194481,ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:18794151,ECO:0000269|PubMed:19818711, ECO:0000269|PubMed:21245387,ECO:0000269|PubMed:21460037, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:9632709}. (Microbial infection) Is recruited by HIV-1 Tat toTat:P-TEFb:TAR RNA complexes and is involved in Tat transcriptionby recruitment of MYC, MEN1 and TRRAP to the HIV promoter.{ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:19818711}. (Microbial infection) Proposed to be involved intranscriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressedpromoters. {ECO:0000269|PubMed:10644367}.

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_SNW1


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_SNW1


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, BRCA1SNW1SKI, RBPJ, CIR1, HDAC2, SIN3A, NCOR2, SND1, NOTCH1, NOTCH3, ASCC2, RB1, RBL1, RBL2, SMAD2, SMAD3, SMAD4, SKIL, VDR, PABPN1, MYOD1, RXRA, NCOA2, NCOA1, TCEA2, CCNT1, MYC, CDK9, KMT2A, MEN1, IKBKG, PCBD2, TRIM15, ZSCAN1, SRRM1, NCOR1, EP300, TADA2A, PRPF8, UBR5, ZMAT3, EFTUD2, HNRNPU, DDB1, SFPQ, DDX23, CDC5L, HSPA5, PFKL, ABCF2, TUBB4A, EEF1G, EEF1A1, TUBB1, MSH2, NR0B1, NR0B2, ACTN2, CKAP5, MAPK6, TNNT1, VAV2, SIRT7, PRKAA2, CUL3, CUL2, DAXX, LNX1, MAGEA1, TOP1, PABPC1, CWC27, DHX38, SKIV2L2, DHX15, SNRPD2, DDX5, RAD21, EIF4A3, MAGOH, NHP2L1, SART1, CTNNBL1, XAB2, SNIP1, MFAP1, ZNF830, CXorf56, TTC14, HDAC11, HECW2, AURKB, TP53, TUBGCP3, GOLGA2, TRAF1, IKZF1, MTUS2, TFIP11, PPIL1, CEP55, TEX11, RINT1, LZTS2, KRT40, NXF1, MSL1, ZDHHC17, CUL7, OBSL1, SIRT1, RARA, SUZ12, RNF2, BMI1, OCLN, SNRPA1, DHX8, TSSC4, USB1, FHL3, PPIE, WDR83, CCDC94, LUC7L2, HSPB1, NTRK1, GCN1L1, HARS, HNRNPR, PFKM, PRPF4, SEPT2, SEPT7, SNRNP200, BUD31, CDC40, CRNKL1, PFKP, PLRG1, PRPF19, SARS, TRMT6, SYF2, TTC37, VARS, MUS81, KRAS, SF3B4, SYNCRIP, CPSF4, HNRNPA0, EBNA1BP2, CLP1, CPSF6, SRSF3, HNRNPA3, RBMX, CPSF1, HNRNPA1, HNRNPAB, HNRNPD, NCBP1, PCF11, LUC7L3, PPP2R1B, PRPF40A, METTL3, SRSF2, SRSF5, SRSF6, SNRPB2, RBM10, SRSF11, DDX46, PPP1CA, LOC102724594, BCAS2, SF3A1, CHERP, SF3A3, SF3B2, DDX42, U2AF2, HNRNPK, TRUB1, CSTF3, ELAVL1, XRN2, SNW1, U2SURP, TARDBP, SF3B3, SF3B1, PRPF6, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HSPA8, HNRNPM, NONO, GEMIN4, PCBP1, SF3B6, CPSF3, EXOSC10, CPSF2, LUC7L, RBM4, SRSF1, SMN1, SMN2, SNRNP70, SNRPD3, U2AF1, CPSF7, RBM17, HNRNPLL, SNRNP40, RBM39, BZW1, PDCD6IP, SNUPN, ACTR1A, CDK3, STAG1, TUBB3, SEC23B, ARFGEF2, MAGED2, COPS6, CHD3, CHD4, WDR5, PKP3, KTI12, ARAP1, CSK, DCTN1, DDX1, DHX9, DOCK1, DOCK2, MLKL, CTTN, PUF60, ACIN1, WAPAL, XPO6, DNAJC13, SRRM2, GTPBP4, XRCC6, NIPBL, SEC31B, LDLRAP1, KIAA1279, ZNF326, BABAM1, GSPT1, OLA1, PIK3R4, IK, ILK, KPNA1, MLH1, ATM, PAK1, METTL13, CDK12, POLE, ATR, APBB1IP, ATRX, PPP2R1A, KIF27, UBE2Q1, CHD7, PRKAG1, ASUN, EXOC1, CAND1, MAP2K2, MAP2K3, LRRC47, TAOK1, PURA, WIZ, BLM, NCAPG, RBM15, YTHDC2, SRP19, AURKA, TTK, VASP, VRK1, NUP37, SPATA5L1, SHOC2, FIP1L1, DIAPH3, RIOK1, USP48, FYTTD1, RAE1, COPS3, API5, AP3B1, FUBP1, CPNE3, OTULIN, BCL7C, TRIP12, GNA14, AQR, CDK1, TOX4, G3BP2, NUP153, PSMC3, ACTB, SMC4, DNM1L, TUBB, ACTR2, RAD50, TRAP1, TUBA4A, PSMC6, DDX39A, PAK4, TUBB4B, NDC80, DCTN2, CCT7, CCT4, CCT2, EXOC5, KHDRBS1, CCT8, NUDC, SEPT9, TUBGCP2, RUVBL2, SUGT1, EHD1, KIF2C, CHEK1, DDX19B, PSMC1, RBM45, COPA, COPB1, CSE1L, AP1B1, SPATA5, DFNA5, DIAPH1, DYNC1LI2, DNM2, DSP, FASN, LRWD1, FEN1, COPG1, RALY, CCT5, CNOT1, MDN1, EXOC7, SMCHD1, NCAPH, ORC6, ORC3, KIF4A, HSPA12A, INTS1, PHGDH, VPS33B, COPG2, ZNF638, FHOD1, RACGAP1, MSH6, PARVB, HDLBP, HELLS, EHD4, DNAJA1, HSP90AA1, HSP90AB1, HSPD1, ARCN1, KIF11, KPNB1, KPNA2, LIMS1, LMNA, MRE11A, MYH9, NBN, DRG1, NSF, ORC2, ORC4, ORC5, UCHL5, DDX41, GULP1, RTCB, PLEC, PLK1, PNN, POLD1, ANLN, RIF1, FANCI, DDX19A, ABCF3, WDR33, CDKN2AIP, KIF21A, FERMT1, LRRC40, SCYL2, NSUN5, IPO9, ENAH, PARVA, EXOC2, PKN2, UNC45A, PRKDC, MAP2K7, RAD18, SMARCAD1, PSMC2, PSMC4, PSMC5, PSMD1, PSMD2, PSMD3, PSMD11, PSMD12, PSMD13, WDR18, TWF1, SHROOM3, CHD8, RANBP2, RANGAP1, RBBP5, RBBP7, UPF1, RFC2, RFC3, RFC4, RFC5, EXOC4, RPA1, SRSF7, ANAPC1, EPS8L2, FAM129B, INTS3, HLTF, SPTAN1, SPTBN1, SRP54, SRP68, SRP72, TCP1, BUB1, BUB1B, TLN1, TMPO, HSP90B1, CCT3, TUBG1, UBE2N, VIM, AHNAK, DDX39B, CDC73, UBA5, MYO15B, SYMPK, SEH1L, CAPG, SMC1A, UBL4A, ARID1A, CAPZA1, PICALM, EPPK1, NUF2, MAD1L1, CUL1, SMARCA5, RUVBL1, CDC23, IQGAP1, CCNB1, HIP1R, UBE2M, BTAF1, CCT6A, SMC3, ARHGEF1, DEPDC7, ARHGEF2, BUB3, PDLIM7, TRIP13, ROCK2, CHD1L, NUP155, NCAPD2, OXSR1, CDC27, MVP, TUBA1B, EXOC3, SNRPE, DVL3, ELAVL2, C11orf57, SNRPG, KIAA1143, SNRPF, ZC3H18, CD2BP2, EAPP


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_SNW1


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_SNW1


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