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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: 21386

FusionGeneSummary for MDM2_FRS2

check button Fusion gene summary
Fusion gene informationFusion gene name: MDM2_FRS2
Fusion gene ID: 21386
HgeneTgene
Gene symbol

MDM2

FRS2

Gene ID

4193

10818

Gene nameMDM2 proto-oncogenefibroblast growth factor receptor substrate 2
SynonymsACTFS|HDMX|hdm2FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1
Cytomap

12q15

12q15

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Mdm2MDM2 oncogene, E3 ubiquitin protein ligaseMDM2 proto-oncogene, E3 ubiquitin protein ligaseMdm2, p53 E3 ubiquitin protein ligase homologMdm2, transformed 3T3 cell double minute 2, p53 binding proteindouble minute 2, humfibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1
Modification date2018052720180522
UniProtAcc

Q00987

Q8WU20

Ensembl transtripts involved in fusion geneENST00000462284, ENST00000356290, 
ENST00000540827, ENST00000258149, 
ENST00000428863, ENST00000393412, 
ENST00000258148, ENST00000544561, 
ENST00000393410, ENST00000393413, 
ENST00000517852, ENST00000545204, 
ENST00000350057, ENST00000360430, 
ENST00000299252, ENST00000348801, 
ENST00000478070, ENST00000544125, 
ENST00000299293, ENST00000549921, 
ENST00000550389, ENST00000397997, 
Fusion gene scores* DoF score24 X 14 X 8=268815 X 6 X 4=360
# samples 2514
** MAII scorelog2(25/2688*10)=-3.42653313811667
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/360*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDM2 [Title/Abstract] AND FRS2 [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
HgeneMDM2

GO:0000122

negative regulation of transcription by RNA polymerase II

9271120|17310983

HgeneMDM2

GO:0006511

ubiquitin-dependent protein catabolic process

11278372|15314173|16173922|17310983

HgeneMDM2

GO:0016567

protein ubiquitination

9450543|15878855|19656744|20153724

HgeneMDM2

GO:0031648

protein destabilization

9529249|10360174|15314173

HgeneMDM2

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

11278372

HgeneMDM2

GO:0034504

protein localization to nucleus

10360174

HgeneMDM2

GO:0042176

regulation of protein catabolic process

9153395

HgeneMDM2

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

9529249|10360174

HgeneMDM2

GO:0045184

establishment of protein localization

10360174

HgeneMDM2

GO:0045892

negative regulation of transcription, DNA-templated

9271120

HgeneMDM2

GO:0065003

protein-containing complex assembly

10608892|12915590

HgeneMDM2

GO:0071157

negative regulation of cell cycle arrest

9529249

HgeneMDM2

GO:0071480

cellular response to gamma radiation

16213212

HgeneMDM2

GO:0072717

cellular response to actinomycin D

15314173

HgeneMDM2

GO:1901797

negative regulation of signal transduction by p53 class mediator

16173922


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
TCGALDSARCTCGA-DX-AB2F-01AMDM2chr12

69218431

+FRS2chr12

69924645

+
* 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-5UTRENST00000462284ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-5UTRENST00000462284ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-intronENST00000462284ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-5UTRENST00000462284ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000356290ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000356290ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000356290ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000356290ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000540827ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000540827ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000540827ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000540827ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258149ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258149ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000258149ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258149ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000428863ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000428863ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000428863ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000428863ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393412ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393412ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000393412ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393412ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258148ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258148ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000258148ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000258148ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544561ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544561ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000544561ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544561ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393410ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393410ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000393410ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393410ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393413ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393413ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000393413ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000393413ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000517852ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000517852ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000517852ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000517852ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000545204ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000545204ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000545204ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000545204ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-5UTRENST00000350057ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-5UTRENST00000350057ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-intronENST00000350057ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
5CDS-5UTRENST00000350057ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000360430ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000360430ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000360430ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000360430ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000299252ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000299252ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000299252ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000299252ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000348801ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000348801ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000348801ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000348801ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000478070ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000478070ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000478070ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000478070ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544125ENST00000299293MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544125ENST00000549921MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-intronENST00000544125ENST00000550389MDM2chr12

69218431

+FRS2chr12

69924645

+
intron-5UTRENST00000544125ENST00000397997MDM2chr12

69218431

+FRS2chr12

69924645

+

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FusionProtFeatures for MDM2_FRS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MDM2

Q00987

FRS2

Q8WU20

Adapter protein that links activated FGR and NGFreceptors to downstream signaling pathways. Plays an importantrole in the activation of MAP kinases and in the phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1.Modulates signaling via SHC1 by competing for a common bindingsite on NTRK1. {ECO:0000269|PubMed:12974390,ECO:0000269|PubMed:21765395}.

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 MDM2_FRS2


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 MDM2_FRS2


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
MDM2TP53, MDC1, CTBP1, CTBP2, TP73, PML, RPL11, RPL5, CDKN2A, NUMB, UBE2A, HIF1A, KAT5, HDAC1, EID1, MDM4, KAT2B, EP300, TBP, TAF1, MDM2, ESR1, ARRB2, ABL1, CCNG1, ARRB1, TSG101, RB1, MTBP, FKBP3, RYBP, RRM2B, RPL26, GNAS, FOXO4, IGF1R, DAXX, DHFR, GNL3, CCAR1, PSMD10, PSME3, PTK2, AR, PPM1D, USP7, COPS5, SFN, RBBP6, CDH1, CHEK2, YWHAQ, NCL, UBE2G2, UBE2U, UBE2Z, PYHIN1, BANP, DDX17, E2F1, TRIM28, UBC, GATA3, ATF3, HIST2H2BE, RPL23, YY1, AKT1, RAD23A, CDKN1A, NR3C1, UBE2I, HIST3H3, EHMT1, SUV39H1, RPS27L, RPS27, ADRB2, SIVA1, MTA1, RCHY1, UBE2D1, CASP2, RPS27A, RPS7, G3BP2, PSMD2, PAK1IP1, RPS6KB1, ZNF668, TP63, PCNA, USP10, PSMC1, PSMD4, PSMC3, PSMC5, PSMC6, PSMA7, PSMD1, RUNX3, GNL3L, TERT, APEX1, UIMC1, CREBBP, SOX4, UBE4B, TBRG1, BAIAP2L1, RFWD3, ERBB3, PA2G4, HEXIM1, CDK9, DYRK2, HSP90AA1, HSPA4, HSPA8, LAMP2, RPS3, USP2, TRIM13, XRCC6, GORAB, FOXO1, FOXO3, UCHL1, S100A1, S100A2, S100A4, S100A6, S100B, USP42, CUL1, BTRC, FBXW11, CSNK1D, RFWD2, SMURF1, NOTCH4, CSNK1A1, PDLIM7, SENP3, RN5S1@, PDE4D, NOTCH1, SNAI1, RASSF1, TRIM27, RFFL, RPS14, PPP2R4, TTF1, PSMB6, PSMA8, RASSF3, NR0B2, UBE2B, PIAS1, RANBP1, LATS1, RAD50, NBN, MRE11A, CUL4A, DTL, PIM1, GSK3B, PSMA3, ESR2, ADRBK1, AATF, HNRNPK, BUB1B, SUMO1, RASSF5, UBE2D2, POLH, NPM1, TCAP, CDK5RAP3, ARIH2, IRF2, RPS25, TPT1, ANG, RHOA, PDCD5, CDKN2AIP, LATS2, WWOX, MED1, ERCC6, ERCC8, DDB1, CUL4B, HIPK2, DHRS2, CASP3, ITCH, EEF1A1, DCD, TUBB, TUBB2A, KRT14, RPS20, GAPDH, TUBA1C, GSN, ERBB4, XIAP, HNF4A, PLK1, NME2, NEDD4, DAPK1, DAPK3, ATM, PBX1, UBE2D3, UBE3A, UBE2L3, UBE2E2, UBE2E3, RNF2, EGR1, PAK6, DLG4, IRF1, VCP, STRA13, GADD45A, RABL6, RPS26, RPL37, RPS15, RNF8, TRIM4, TRIM23, TRAF5, TRIM9, MKRN3, PHF7, RNF10, RNF126, UBE2K, LMO7, HLA-DMB, SETDB1, YY1AP1, NACA, ATF4, MYD88, RELA, SDHC, WT1, SORBS2, HRSP12, DNAJB4, GCAT, SHPK, POT1, ANKRD17, GLTSCR2, SESN2, RASSF6, JUND, EZR, RYR2, JUN, CLSTN1, APP, CLU, SREK1, SET, HSP90B1, CWC25, ZNF133, PKM, TAB1, RPL6, AURKA, NOC2L, JAK1, XPC, PGAM1, PGAM2, DNAJB1, ANAPC2, NLK, SNAI2, RBM38, FHIT, AGPS, ALDH16A1, DDX5, DHX9, DLAT, EDC4, EIF2AK1, ESYT1, GTF2I, HMHA1, HNRNPM, HNRNPU, HRNR, HSP90AB1, IARS, IFI16, IGF2BP3, ILF3, KARS, CCAR2, NEK9, OGDH, OGDHL, RARS, RBBP8, RECQL, SF3B1, SFPQ, TOP1, ZNF318, PER2, SIRT6, TSC22D3, RPS6, UBE2M, RAD54B, SMARCA2, ACACA, PTBP1, IYD, ACTB, HNRNPD, U2AF2, FUBP1, TFRC, EEF2, XPO1, KRT2, EIF3B, SND1, DCAF8, USO1, EFTUD2, EXOSC6, IPO7, SF3B3, DET1, UBE2N, RPL10A, DIRAS3, SURF2, RFPL2, CMSS1, PPARD, RPL22L1, IER2, MAGEA2, ZNF420, ELF4, ABL2, SRC, HCK, GTF2E2, ATP2A2, BRINP1, C19orf10, CANX, MS4A1, PDIA3, PPIB, RAB8A, RPS23, RUVBL2, SMARCA4, SMARCE1, SRSF11, TPR, UBTF, PPARG, VDR, FBXO31, TFIP11, SETD7, PPP1CA, RARA, DDX24, NAT10, CCND1, RLIM, IER3, FHL2, RPL23A, SUZ12, EZH2, EED, RRM1, RPL4, NOLC1, DDX42, MAP2, NUCKS1, RRP1, PDS5A, RPL36A, TP53RK, RPL15, NPIPB3, HMGN1, MAP1LC3A, PRDM2, KIAA1551, PBXIP1, SP1, SHARPIN, MAPKAPK2, USP15, USP26, FKBP1A, NGFR, SMG7, RSL1D1, SIRT1, SIRT7, SIRT2, SIRT3, KPNA1, KPNA6, MSI2, PHLDB3, CLPB, XAGE1B, ZNF550, YAF2, PDGFB, ARNTL2, RPS11, TSPYL6, HIST1H2BJ, ZNF764, MAK16, ZNF274, PPAN, RPL37A, CRTC2, CRTC3, TRIM25, CSNK2A1, CSNK2B, CSNK2A2, HEY1, RANBP2FRS2PTPN11, INSR, SOS1, GRB2, CBL, FGFR1, CRK, NTRK1, NTRK2, NTRK3, RET, PRKCI, FGFR2, FLOT1, SORBS1, SPRY2, LYN, BECN1, RPS6, TMEM17, GAB1, GAB2, CDH1, TRIM25


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 MDM2_FRS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMDM2Q00987DB01593ZincE3 ubiquitin-protein ligase Mdm2small moleculeapproved|investigational

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RelatedDiseases for MDM2_FRS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMDM2C0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneMDM2C0007621Neoplastic Cell Transformation1CTD_human
HgeneMDM2C0019693HIV Infections1CTD_human
HgeneMDM2C0021364Male infertility1CTD_human
HgeneMDM2C0025202melanoma1CTD_human
HgeneMDM2C0032927Precancerous Conditions1CTD_human
HgeneMDM2C0033578Prostatic Neoplasms1CTD_human
HgeneMDM2C1458155Mammary Neoplasms1CTD_human