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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: 14382

FusionGeneSummary for GAS2L1_EWSR1

check button Fusion gene summary
Fusion gene informationFusion gene name: GAS2L1_EWSR1
Fusion gene ID: 14382
HgeneTgene
Gene symbol

GAS2L1

EWSR1

Gene ID

10634

2130

Gene namegrowth arrest specific 2 like 1EWS RNA binding protein 1
SynonymsGAR22EWS|EWS-FLI1|bK984G1.4
Cytomap

22q12.2

22q12.2

Type of geneprotein-codingprotein-coding
DescriptionGAS2-like protein 1GAS2-related protein on chromosome 22growth arrest-specific protein 2-like 1RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene
Modification date2018051920180527
UniProtAcc

Q99501

Q01844

Ensembl transtripts involved in fusion geneENST00000407647, ENST00000360113, 
ENST00000406549, ENST00000341313, 
ENST00000403764, ENST00000407854, 
ENST00000471961, 
ENST00000332050, 
ENST00000397938, ENST00000406548, 
ENST00000331029, ENST00000414183, 
ENST00000333395, ENST00000332035, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 20 X 7=1120
# samples 221
** MAII scorelog2(2/8*10)=1.32192809488736log2(21/1120*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAS2L1 [Title/Abstract] AND EWSR1 [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
HgeneGAS2L1

GO:0097067

cellular response to thyroid hormone stimulus

19375645


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
TCGALDKIRCTCGA-AS-3777-01AGAS2L1chr22

29706988

+EWSR1chr22

29694723

+
* 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-shitENST00000407647ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407647ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407647ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407647ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407647ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407647ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407647ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-intronENST00000360113ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-intronENST00000360113ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000406549ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000406549ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000406549ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000406549ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000406549ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000406549ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000406549ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000341313ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000341313ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000341313ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000341313ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000341313ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000341313ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000341313ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000403764ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000403764ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000403764ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000403764ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000403764ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000403764ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000403764ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407854ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407854ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407854ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407854ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000407854ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407854ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407854ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000471961ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000471961ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000471961ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000471961ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shitENST00000471961ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000471961ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000471961ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+

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FusionProtFeatures for GAS2L1_EWSR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GAS2L1

Q99501

EWSR1

Q01844

Seems to be involved in the cross-linking ofmicrotubules and microfilaments. {ECO:0000269|PubMed:12584248}. 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 GAS2L1_EWSR1


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 GAS2L1_EWSR1


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
GAS2L1SH3KBP1, POT1, MAPRE1, MAPRE3, NXN, SNX5, EPN1, DIS3, USP7, CCNB1, GSN, WDR45B, ZZEF1, RBM12, NAGK, PLCG1, GNB1L, KLHL42, CDKN2C, CAPZA2, PPP1CB, IQGAP1, RTEL1, MYO19, CKS2, LRRFIP1, HECTD3EWSR1PRTFDC1, 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


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 GAS2L1_EWSR1


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 GAS2L1_EWSR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAS2L1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneGAS2L1C0036341Schizophrenia1PSYGENET
TgeneEWSR1C0553580Ewings sarcoma3CTD_human;HPO;ORPHANET
TgeneEWSR1C0206663Neuroectodermal Tumor, Primitive1CTD_human