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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: 12243

FusionGeneSummary for EWSR1_ZNF384

check button Fusion gene summary
Fusion gene informationFusion gene name: EWSR1_ZNF384
Fusion gene ID: 12243
HgeneTgene
Gene symbol

EWSR1

ZNF384

Gene ID

2130

171017

Gene nameEWS RNA binding protein 1zinc finger protein 384
SynonymsEWS|EWS-FLI1|bK984G1.4CAGH1|CAGH1A|CIZ|ERDA2|NMP4|NP|TNRC1
Cytomap

22q12.2

12p13.31

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogenezinc finger protein 384CAG repeat protein 1Cas-interacting zinc finger proteinexpanded repeat domain, CAG/CTG 2nuclear matrix transcription factor 4trinucleotide repeat-containing gene 1 protein
Modification date2018052720180519
UniProtAcc

Q01844

Q8TF68

Ensembl transtripts involved in fusion geneENST00000332050, ENST00000397938, 
ENST00000406548, ENST00000331029, 
ENST00000414183, ENST00000333395, 
ENST00000332035, 
ENST00000396795, 
ENST00000319770, ENST00000396801, 
ENST00000361959, ENST00000355772, 
ENST00000396799, 
Fusion gene scores* DoF score17 X 31 X 5=26352 X 4 X 1=8
# samples 534
** MAII scorelog2(53/2635*10)=-2.31373869707402
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/8*10)=2.32192809488736
Context

PubMed: EWSR1 [Title/Abstract] AND ZNF384 [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

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
ChiTaRS3.1EU327511EWSR1chr22

29688158

+ZNF384chr12

6797394

-
* 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-5UTRENST00000332050ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332050ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332050ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332050ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332050ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332050ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000397938ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000406548ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000331029ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000414183ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
intron-5UTRENST00000333395ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000396795EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000319770EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000396801EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000361959EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000355772EWSR1chr22

29688158

+ZNF384chr12

6797394

-
5CDS-5UTRENST00000332035ENST00000396799EWSR1chr22

29688158

+ZNF384chr12

6797394

-

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FusionProtFeatures for EWSR1_ZNF384


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

Q01844

ZNF384

Q8TF68

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. Transcription factor that binds the consensus DNAsequence [GC]AAAAA. Seems to bind and regulate the promoters ofMMP1, MMP3, MMP7 and COL1A1 (By similarity). {ECO:0000250}.

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_ZNF384


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_ZNF384


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, BRCA1ZNF384CEBPE, HOXC9, OPTN, SOX2, TUBA3C, TRIP6, NFATC2


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_ZNF384


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EWSR1_ZNF384


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEWSR1C0553580Ewings sarcoma3CTD_human;HPO;ORPHANET
HgeneEWSR1C0206663Neuroectodermal Tumor, Primitive1CTD_human