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Fusion gene ID: 12240 |
FusionGeneSummary for EWSR1_SMR3B |
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Fusion gene information | Fusion gene name: EWSR1_SMR3B | Fusion gene ID: 12240 | Hgene | Tgene | Gene symbol | EWSR1 | SMR3B | Gene ID | 2130 | 10879 |
Gene name | EWS RNA binding protein 1 | submaxillary gland androgen regulated protein 3B | |
Synonyms | EWS|EWS-FLI1|bK984G1.4 | P-B|PBII|PRL3|PROL3|SMR1B | |
Cytomap | 22q12.2 | 4q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene | submaxillary gland androgen-regulated protein 3Bproline rich 3proline-rich peptide P-Bproline-rich protein 3salivary proline-rich proteinsubmaxillary gland androgen regulated protein 3 homolog B | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q01844 | P02814 | |
Ensembl transtripts involved in fusion gene | ENST00000332050, ENST00000397938, ENST00000406548, ENST00000331029, ENST00000414183, ENST00000333395, ENST00000332035, | ENST00000504825, ENST00000304915, | |
Fusion gene scores | * DoF score | 17 X 31 X 5=2635 | 9 X 8 X 2=144 |
# samples | 53 | 3 | |
** MAII score | log2(53/2635*10)=-2.31373869707402 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/144*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EWSR1 [Title/Abstract] AND SMR3B [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-AN-A0G0-01A | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000332050 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000332050 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-intron | ENST00000397938 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000397938 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-intron | ENST00000406548 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000406548 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-intron | ENST00000331029 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000331029 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-intron | ENST00000414183 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000414183 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
intron-intron | ENST00000333395 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
intron-3UTR | ENST00000333395 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-intron | ENST00000332035 | ENST00000504825 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
5CDS-3UTR | ENST00000332035 | ENST00000304915 | EWSR1 | chr22 | 29695825 | + | SMR3B | chr4 | 71255624 | + |
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FusionProtFeatures for EWSR1_SMR3B |
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Hgene | Tgene |
EWSR1 | SMR3B |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for EWSR1_SMR3B |
![]() (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_SMR3B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EWSR1 | PRTFDC1, 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, BRCA1 | SMR3B | RAD21, UBQLN1, UBTD2, RASSF10, BCHE, TNFRSF19, SNRPF |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EWSR1_SMR3B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EWSR1_SMR3B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EWSR1 | C0553580 | Ewings sarcoma | 3 | CTD_human;HPO;ORPHANET |
Hgene | EWSR1 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |