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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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RelatedDiseases

Fusion gene ID: 12238

FusionGeneSummary for EWSR1_NR4A3

check button Fusion gene summary
Fusion gene informationFusion gene name: EWSR1_NR4A3
Fusion gene ID: 12238
HgeneTgene
Gene symbol

EWSR1

NR4A3

Gene ID

2130

8013

Gene nameEWS RNA binding protein 1nuclear receptor subfamily 4 group A member 3
SynonymsEWS|EWS-FLI1|bK984G1.4CHN|CSMF|MINOR|NOR1|TEC
Cytomap

22q12.2

9q31.1

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogenenuclear receptor subfamily 4 group A member 3chondrosarcoma, extraskeletal myxoid, fused to EWSmitogen-induced nuclear orphan receptorneuron-derived orphan receptor 1nuclear hormone receptor NOR-1translocated in extraskeletal chondrosarcoma
Modification date2018052720180527
UniProtAcc

Q01844

Q92570

Ensembl transtripts involved in fusion geneENST00000332050, ENST00000397938, 
ENST00000406548, ENST00000331029, 
ENST00000414183, ENST00000333395, 
ENST00000332035, 
ENST00000338488, 
ENST00000395097, ENST00000330847, 
Fusion gene scores* DoF score17 X 31 X 5=26356 X 6 X 4=144
# samples 5310
** MAII scorelog2(53/2635*10)=-2.31373869707402
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/144*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EWSR1 [Title/Abstract] AND NR4A3 [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
TgeneNR4A3

GO:0010828

positive regulation of glucose transmembrane transport

24022864

TgeneNR4A3

GO:0045944

positive regulation of transcription by RNA polymerase II

20558821

TgeneNR4A3

GO:0048008

platelet-derived growth factor receptor signaling pathway

23554459

TgeneNR4A3

GO:0048660

regulation of smooth muscle cell proliferation

25852083


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
ChiTaRS3.1AF524261EWSR1chr22

29688159

+NR4A3chr9

102589010

+
ChiTaRS3.1S81242EWSR1chr22

29683123

+NR4A3chr9

102587941

+
* 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-intronENST00000332050ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000332050ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000332050ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000397938ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000397938ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000397938ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000406548ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000406548ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000406548ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000331029ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000331029ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000331029ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000414183ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000414183ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000414183ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000333395ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000333395ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
intron-intronENST00000333395ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000332035ENST00000338488EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000332035ENST00000395097EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-intronENST00000332035ENST00000330847EWSR1chr22

29688159

+NR4A3chr9

102589010

+
5CDS-5UTRENST00000332050ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000332050ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000332050ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000397938ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000397938ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000397938ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000406548ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000406548ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000406548ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000331029ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000331029ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000331029ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000414183ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000414183ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000414183ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000333395ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000333395ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000333395ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000332035ENST00000338488EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000332035ENST00000395097EWSR1chr22

29683123

+NR4A3chr9

102587941

+
5CDS-intronENST00000332035ENST00000330847EWSR1chr22

29683123

+NR4A3chr9

102587941

+

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FusionProtFeatures for EWSR1_NR4A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EWSR1

Q01844

NR4A3

Q92570

Might normally function as a transcriptional repressor.EWS-fusion-proteins (EFPS) may play a role in the tumorigenicprocess. They may disturb gene expression by mimicking, orinterfering with the normal function of CTD-POLII within thetranscription initiation complex. They may also contribute to anaberrant activation of the fusion protein target genes.

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 EWSR1_NR4A3


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 EWSR1_NR4A3


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
EWSR1PRTFDC1, ZDHHC3, MSC, SLC22A24, MYO1F, KXD1, KHDRBS2, DNAJB3, FASN, NLE1, MNS1, PRUNE2, WWP2, NDUFB1, BNIP3L, NSUN4, KRR1, WWP1, RMND5B, SLC1A1, RASL11B, DFFA, WDR37, RPS15A, CPSF6, C11orf16, YY1AP1, RNF183, MTCP1, TULP2, RBPMS, KEL, MYOZ2, FAM131C, HMGA1, NPPB, HERPUD1, CD177, RPL31, VPS72, ACTL6A, RAD23A, MAGEA11, CFDP1, DMRTB1, CXADR, ZNF165, SSBP2, TPGS2, RAB37, CETP, NDUFV1, DYNLL2, NBPF3, CEACAM5, GPBP1L1, SERP2, GNPDA1, C19orf57, ELAVL3, ELAVL4, LILRA3, BAD, CCDC7, MRPS18B, CUEDC2, CNST, TSPAN3, CCDC91, TRIM37, NINL, NTNG2, CPSF7, PGLS, EPT1, MYL6, SMAD4, TMSB4Y, TRPV5, MVK, MAPK1IP1L, MDFI, MTMR9, PLSCR1, RALYL, PDHX, C10orf12, RHOXF2, MATK, SALL2, AGT, KCNMB1, SUV39H2, SMNDC1, ARHGDIA, PUF60, GSK3B, ILK, CD2BP2, BARD1, CREBBP, BTK, SF1, SNRPC, ELK1, PTK2B, CALM1, POU4F1, EZH2, IRF3, TONSL, RFX3, HLTF, SUPT4H1, ZNF184, HIST1H2BN, BLZF1, HDAC3, FXR2, HMGN4, POLR3A, ECD, ZBTB1, SCMH1, SUZ12, E2F8, TRIM5, ZNF383, DHX9, SMN1, PCM1, RAD21, NDRG1, CEBPA, ELAVL1, SIRT7, HNRNPA1, TSG101, TP53, POLR2A, YBX1, TDRD3, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, KCND3, ATN1, ATXN3, ERCC5, HBP1, HSPA2, PCBP1, USP7, SRSF5, TMEM126A, SAP30BP, GORASP2, MBD3, MRPS9, HAX1, SFXN1, ITGA5, TCIRG1, RNF168, GEMIN5, HAS1, MTCH1, NDUFA5, MCAT, MRPL57, HDAC2, ESR1, FN1, VCAM1, ITGA4, CD81, PRMT1, SF3B4, EP300, PRRC2A, EWSR1, FUS, ITGB5, NONO, TRAF3, HNRNPUL1, EPAS1, CHERP, CDK12, ITCH, WBP4, RPA3, RPA2, RPA1, HSPA5, RIOK2, TRAF1, TRAF2, SEC24D, TFG, SEC24A, SSBP3, PRR13, ATPAF2, PEF1, JUN, CUL7, OBSL1, CCDC8, RNF2, BMI1, EGFR, ABL1, SRPK1, ABCE1, PRMT8, RPS6KB2, ACAA2, ACAT1, EIF4H, ANXA2, HIP1R, PICALM, POR, NTRK1, SCARNA22, NPM1, KRT2, PRDX2, S100A9, YWHAZ, DDX17, PCLO, ANXA6, SEC24C, GIPC1, CSRP2, FHL1, HNRNPA3, CTTN, MARCKSL1, PARP1, SERPINB3, CCDC50, KIF2A, KRT6B, HIST1H1D, STK38, H2AFV, PACSIN2, U2AF1, RSL24D1, XRCC5, ESYT3, RPL29, SDF2L1, LRP1B, MSN, SEC23A, RPL7A, SNX18, PPIL1, RPS27A, IGHM, SUMO3, GTF2I, RUVBL1, KRT16, RBM8A, RPL8, SRSF9, ZC3HAV1L, GAPDH, ETV3, IGF2R, COL5A2, HNRNPD, ANP32B, WAC, TFAP2A, TTN, CBR3, ARGLU1, HNRNPAB, SRRT, ATP1B3, COPS7B, PRR12, ATF3, NOMO3, NOMO1, NOMO2, EYA3, C1orf198, MAZ, U2AF2, SSB, TRA2B, C1orf52, HMGB1, HMGB1P10, RPRD1A, HNRNPH3, EIF5A2, C1orf131, SEC13, MAPRE1, CSTF2T, SRSF3, LENG1, UPF1, HDGFRP2, RPS10P7, RPS10P11, RPS10, RPS10P13, RPS10P4, RPS10P22, DACH1, ANO1, NCOR1, MLX, SUMO1P3, SUMO1, WIZ, PFDN6, ARFIP2, ZHX3, EEF1B2, MBIP, BAG6, DENND2A, PRCC, SRSF1, EIF4ENIF1, SPTAN1, CDCA8, PLS3, API5P1, API5, PSMA4, DNTTIP1, AKAP8, NCOA3, SMTN, FBRS, SMARCE1, ERC1, WBP11, SPTBN1, NFRKB, OLA1, ZNF207, R3HDM1, TRIM33, SAFB, UBFD1, SRSF7, SRSF2, GATA6, VDAC1P1, VDAC1, IL16, GMNN, ILF2, MED4, QKI, VCL, MFAP1, SNAP29, PADI1, BCL9, BCL9L, PKM, GPATCH11, CASC3, PSMC6, CACYBP, RPL12P6, RPL12P32, RPL12P14, RPL12, RPL12P2, RPL12P35, RPL12P19, TPI1, TPI1P1, CHAF1A, MIA3, CIC, SDCBP, CA2, FKBP3, ACE, NKX2-5, CSTF2, PFDN2, UBTF, FAM207A, LOC729774, BRD8, C12orf45, C1orf35, TCF20, SOD1, SPAG7, MED8, ETS2, ALDOC, FKBP4, INCENP, CEP85, CECR2, TFE3, SUPT16HP1, SUPT16H, MAPT, HTATSF1, RPS18P12, RPS18P5, KPNA2, TMX1, CKAP4, HSPE1, COPRS, PTGES3, LAMP2, ERLIN2, CTNNBL1, TOMM22, NRBF2, C9orf78, NCOA6, MED26, RANBP1, LOC389842, LOC727803, HMGB3, CANX, PUS7, RPSAP19, RPSA, RPSAP18, RPSAP58, RPSAP15, RPSAP8, RPSAP9, RPSAP12, RPSAP29, RPSAP61, ARHGAP17, USF1, PSIP1, SNRPEP2, SNRPE, NUDT5, PPM1G, OTUB1, AHCY, COPS3, NSMCE2, SAE1, PROSER1, GRWD1, CREB5, TAF9B, RBM33, EDF1, PGK1, FAM114A2, SRRM1, RAD23B, CIAPIN1, CIAPIN1P, LRRC59, PABPN1, KMT2A, RPRD1B, GPATCH8, CCDC43, DGCR14, PPP1R2, ERICH1, EIF5A, EIF5AL1, BAG3, PCNA, SOX7, PNISR, FAM168A, MED15, SRSF11, SIRT1, RSF1, MAML1, HPRT1, SPDL1, CRTC3, CEP55, CDV3, ALYREF, RNF40, STOML2, DGCR8, NUCKS1, UBN2, PSMD7, WNT10A, HMBS, KHDRBS1, VBP1, NCSTN, CDCA2, SFSWAP, ZRANB2, DDB1, RBBP6, ZEB1, SRSF6, LOC644422, EIF2S1, RFX5, RPS19, RPS19P3, TALDO1, CWC15, CDCA5, LOC645086, C11orf58, TXN, STX12, PHRF1, BSG, TAF4, SH3GL1, LIN37, HRNR, FAM192A, RRBP1, KIAA0907, GOLGB1, PAX9, P4HB, CHMP5, LDHB, CALR, SUMO2P1, SUMO2, PDIA6, AHSA1, EN2, CCDC124, RPLP0P6, RPLP0P2, RPLP0P3, RPLP0, NIPBL, PDLIM4, PRKCSH, C15orf39, HNRNPDL, PDIA4, NUP210, RPLP2P3, RPLP2, PRDX4, DAZAP1, UBE2T, PHAX, AMOT, MARCKS, LOC284685, SMARCC1, BCORL1, RFC4, GLRX3, ANP32E, HYOU1, NPM3, ATF7IP, SARNP, TRA2A, HDGF, STIP1, PELP1, KCTD12, GLO1, PCF11, CLIC1, DNAJC8, RNF114, SLC4A1AP, FAM50A, GTF2A1, PRPF40A, CDC37, PPIAP22, PPIA, SMARCC2, MEGF11, KIAA1143, DENR, LAMP1, MYBL2, PITX1, UBE2MP1, UBE2M, CHTF8, OTX1, NACA, FNBP4, GTF2F2, GLTSCR1, GTF2E1, PQBP1, EMD, RNF113A, GPALPP1, SNRPA, RRP15, RPS25, RPS25P8, GMEB2, LNPEP, DNAJB1, IGBP1P1, IGBP1, HINT1, ARID1A, PPIB, ANXA11, MATR3, PPARGC1A, MCM2, UBASH3B, SFPQ, CAPN13, HEY1, BRCA1NR4A3SIX3, KDM5B, TRIM28, COPS5


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 EWSR1_NR4A3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNR4A3Q92570DB01254DasatinibNuclear receptor subfamily 4 group A member 3small moleculeapproved|investigational

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RelatedDiseases for EWSR1_NR4A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEWSR1C0553580Ewings sarcoma3CTD_human;HPO;ORPHANET
HgeneEWSR1C0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneNR4A3C0003873Rheumatoid Arthritis1CTD_human
TgeneNR4A3C0020443Hypercholesterolemia1CTD_human
TgeneNR4A3C0021655Insulin Resistance1CTD_human
TgeneNR4A3C3495559Juvenile arthritis1CTD_human