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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: 12236

FusionGeneSummary for EWSR1_NCAPH2

check button Fusion gene summary
Fusion gene informationFusion gene name: EWSR1_NCAPH2
Fusion gene ID: 12236
HgeneTgene
Gene symbol

EWSR1

NCAPH2

Gene ID

2130

29781

Gene nameEWS RNA binding protein 1non-SMC condensin II complex subunit H2
SynonymsEWS|EWS-FLI1|bK984G1.4CAPH2
Cytomap

22q12.2

22q13.33

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogenecondensin-2 complex subunit H2CAP-H2 subunit of the condensin II complexCTA-384D8.36chromosome-associated protein H2kleisin beta
Modification date2018052720180522
UniProtAcc

Q01844

Q6IBW4

Ensembl transtripts involved in fusion geneENST00000332050, ENST00000397938, 
ENST00000406548, ENST00000331029, 
ENST00000414183, ENST00000333395, 
ENST00000332035, 
ENST00000420993, 
ENST00000395698, ENST00000395701, 
ENST00000299821, ENST00000520297, 
Fusion gene scores* DoF score17 X 31 X 5=26353 X 3 X 3=27
# samples 533
** MAII scorelog2(53/2635*10)=-2.31373869707402
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EWSR1 [Title/Abstract] AND NCAPH2 [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
TCGALDLGGTCGA-HT-7686-01AEWSR1chr22

29678546

+NCAPH2chr22

50954876

+
* 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
Frame-shitENST00000332050ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000332050ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000332050ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000332050ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000332050ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000397938ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000397938ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000397938ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000397938ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000397938ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000406548ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000406548ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000406548ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000406548ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000406548ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000331029ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000331029ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000331029ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000331029ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000331029ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000414183ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000414183ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000414183ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000414183ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000414183ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000333395ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000333395ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000333395ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
Frame-shitENST00000333395ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
5CDS-intronENST00000333395ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
intron-3CDSENST00000332035ENST00000420993EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
intron-3CDSENST00000332035ENST00000395698EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
intron-3CDSENST00000332035ENST00000395701EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
intron-3CDSENST00000332035ENST00000299821EWSR1chr22

29678546

+NCAPH2chr22

50954876

+
intron-intronENST00000332035ENST00000520297EWSR1chr22

29678546

+NCAPH2chr22

50954876

+

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FusionProtFeatures for EWSR1_NCAPH2


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

Q01844

NCAPH2

Q6IBW4

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_NCAPH2


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_NCAPH2


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, BRCA1NCAPH2NCAPD3, NCAPG2, SMC2, SMC4, EGFR, FOLR1, LMO2, SNRPC, USHBP1, EGLN3, RIC3, SYNE4, CACNG4, CA14, HLA-B, PNKD, SDF4, SKAP1, DLK1, ALDH3A2, LDLRAD4, NTRK1, RBM8A, SMARCC1, TTC32, TUBB, TRAF2, TTC25, PPP2R1A, ESR1, NCAPH2, NCAPG, HECTD1, MIS18BP1, SATB2, KIAA0586, EXPH5, ZNF318, FIGNL1, EPHA1, DUS3L, TRO, SNAPC4, CEP164, SAMD11, C14orf80, BUB1, ASPM, FAM208B, JMJD4, TRIM37, BRIP1, ALMS1, LZTS2, BCOR, RGPD5, SMG8, C15orf39, GTSE1, OIP5, SDC2, HOOK1, TBL1XR1, BRCA2, BPTF, LRIF1, CTR9, RICTOR, IQCB1, PRIM1, NCOR1, FAM131B, IQGAP3, MTO1, CDC23, HOOK3, OFD1, ADNP, SALL2, MBIP, FAM174A, WDR55, MYO9A, FAM83H, ANAPC5, PIK3C2A, KIAA1671, MIS18A, CHD8, ZNF644, RTEL1, ZZZ3, N4BP2L2, GIGYF2, GATAD2B, CASC5, C11orf30, TIGD5, MED12, NEDD1, CCP110


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_NCAPH2


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_NCAPH2


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