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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: 6553

FusionGeneSummary for CDK2_UBE3A

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK2_UBE3A
Fusion gene ID: 6553
HgeneTgene
Gene symbol

CDK2

UBE3A

Gene ID

1017

7337

Gene namecyclin dependent kinase 2ubiquitin protein ligase E3A
SynonymsCDKN2|p33(CDK2)ANCR|AS|E6-AP|EPVE6AP|HPVE6A
Cytomap

12q13.2

15q11.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 2cdc2-related protein kinasecell division protein kinase 2p33 protein kinaseubiquitin-protein ligase E3ACTCL tumor antigen se37-2E6AP ubiquitin-protein ligaseHECT-type ubiquitin transferase E3Ahuman papilloma virus E6-associated proteinhuman papillomavirus E6-associated proteinoncogenic protein-associated protein E6-APrena
Modification date2018052720180523
UniProtAcc

P24941

Q05086

Ensembl transtripts involved in fusion geneENST00000266970, ENST00000553376, 
ENST00000440311, ENST00000354056, 
ENST00000556656, 
ENST00000232165, 
ENST00000438097, ENST00000566215, 
ENST00000428984, ENST00000397954, 
Fusion gene scores* DoF score4 X 4 X 2=321 X 1 X 1=1
# samples 41
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: CDK2 [Title/Abstract] AND UBE3A [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
HgeneCDK2

GO:0006468

protein phosphorylation

12944431|28666995

HgeneCDK2

GO:0008284

positive regulation of cell proliferation

10767298

HgeneCDK2

GO:0016572

histone phosphorylation

11746698

HgeneCDK2

GO:0018105

peptidyl-serine phosphorylation

23184662

HgeneCDK2

GO:0060968

regulation of gene silencing

20935635

TgeneUBE3A

GO:0031398

positive regulation of protein ubiquitination

17108031

TgeneUBE3A

GO:0032570

response to progesterone

16772533

TgeneUBE3A

GO:0050847

progesterone receptor signaling pathway

16772533

TgeneUBE3A

GO:0051865

protein autoubiquitination

24105792

TgeneUBE3A

GO:0070936

protein K48-linked ubiquitination

12890688


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
TCGARVSKCMTCGA-EE-A2ML-06ACDK2chr12

56366568

+UBE3Achr15

25657118

-
* 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-5UTRENST00000266970ENST00000232165CDK2chr12

56366568

+UBE3Achr15

25657118

-
5CDS-intronENST00000266970ENST00000438097CDK2chr12

56366568

+UBE3Achr15

25657118

-
5CDS-5UTRENST00000266970ENST00000566215CDK2chr12

56366568

+UBE3Achr15

25657118

-
5CDS-intronENST00000266970ENST00000428984CDK2chr12

56366568

+UBE3Achr15

25657118

-
5CDS-intronENST00000266970ENST00000397954CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000553376ENST00000232165CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000553376ENST00000438097CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000553376ENST00000566215CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000553376ENST00000428984CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000553376ENST00000397954CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000440311ENST00000232165CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000440311ENST00000438097CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000440311ENST00000566215CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000440311ENST00000428984CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000440311ENST00000397954CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000354056ENST00000232165CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000354056ENST00000438097CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000354056ENST00000566215CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000354056ENST00000428984CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000354056ENST00000397954CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000556656ENST00000232165CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000556656ENST00000438097CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-5UTRENST00000556656ENST00000566215CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000556656ENST00000428984CDK2chr12

56366568

+UBE3Achr15

25657118

-
intron-intronENST00000556656ENST00000397954CDK2chr12

56366568

+UBE3Achr15

25657118

-

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FusionProtFeatures for CDK2_UBE3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDK2

P24941

UBE3A

Q05086

Serine/threonine-protein kinase involved in the controlof the cell cycle; essential for meiosis, but dispensable formitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1,BRCA2, MYC, NPAT, EZH2. Triggers duplication of centrosomes andDNA. Acts at the G1-S transition to promote the E2Ftranscriptional program and the initiation of DNA synthesis, andmodulates G2 progression; controls the timing of entry intomitosis/meiosis by controlling the subsequent activation of cyclinB/CDK1 by phosphorylation, and coordinates the activation ofcyclin B/CDK1 at the centrosome and in the nucleus. Crucial rolein orchestrating a fine balance between cellular proliferation,cell death, and DNA repair in human embryonic stem cells (hESCs).Activity of CDK2 is maximal during S phase and G2; activated byinteraction with cyclin E during the early stages of DNA synthesisto permit G1-S transition, and subsequently activated by cyclin A2(cyclin A1 in germ cells) during the late stages of DNAreplication to drive the transition from S phase to mitosis, theG2 phase. EZH2 phosphorylation promotes H3K27me3 maintenance andepigenetic gene silencing. Phosphorylates CABLES1 (By similarity).Cyclin E/CDK2 prevents oxidative stress-mediated Ras-inducedsenescence by phosphorylating MYC. Involved in G1-S phase DNAdamage checkpoint that prevents cells with damaged DNA frominitiating mitosis; regulates homologous recombination-dependentrepair by phosphorylating BRCA2, this phosphorylation is low in Sphase when recombination is active, but increases as cellsprogress towards mitosis. In response to DNA damage, double-strandbreak repair by homologous recombination a reduction of CDK2-mediated BRCA2 phosphorylation. Phosphorylation of RB1 disturbsits interaction with E2F1. NPM1 phosphorylation by cyclin E/CDK2promotes its dissociates from unduplicated centrosomes, thusinitiating centrosome duplication. Cyclin E/CDK2-mediatedphosphorylation of NPAT at G1-S transition and until prophasestimulates the NPAT-mediated activation of histone genetranscription during S phase. Required for vitamin D-mediatedgrowth inhibition by being itself inactivated. Involved in thenitric oxide- (NO) mediated signaling in anitrosylation/activation-dependent manner. USP37 is activated byphosphorylation and thus triggers G1-S transition. CTNNB1phosphorylation regulates insulin internalization. PhosphorylatesFOXP3 and negatively regulates its transcriptional activity andprotein stability (By similarity). Phosphorylates CDK2AP2(PubMed:12944431). {ECO:0000250|UniProtKB:P97377,ECO:0000269|PubMed:10499802, ECO:0000269|PubMed:10884347,ECO:0000269|PubMed:10995386, ECO:0000269|PubMed:10995387,ECO:0000269|PubMed:11051553, ECO:0000269|PubMed:11113184,ECO:0000269|PubMed:12944431, ECO:0000269|PubMed:15800615,ECO:0000269|PubMed:17495531, ECO:0000269|PubMed:18372919,ECO:0000269|PubMed:19966300, ECO:0000269|PubMed:20079829,ECO:0000269|PubMed:20147522, ECO:0000269|PubMed:20195506,ECO:0000269|PubMed:20935635, ECO:0000269|PubMed:21262353,ECO:0000269|PubMed:21319273, ECO:0000269|PubMed:21596315,ECO:0000269|PubMed:28666995}.

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 CDK2_UBE3A


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 CDK2_UBE3A


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
CDK2CDKN3, CDKN1B, EPB41, UBE2M, VHL, SORT1, RADIL, NEDD8, TSC22D1, WRAP73, OGT, CASP4, FBL, PTP4A3, CDK15, NAA25, PCED1A, BRCA1, CDKN1A, BCCIP, INCA1, XRCC6, RBM4, SPDYA, FEN1, CCNA2, CCNE1, CDK2AP1, RB1, POLA1, RBL2, RBL1, CCNB1, CCNA1, PPP2CA, PPM1B, CDK6, CDC25A, CNOT7, E2F1, TP53, CDC6, RRN3, NPDC1, CCNB3, REL, MYBL2, ORC1, ORC2, SKP2, CEBPA, CCNE2, CKS1B, BIRC5, MCM4, CDC25B, MS4A3, PCNA, LYN, PRKCH, CDC5L, UBE2A, IKBKG, CHAF1A, CDT1, MGMT, NOV, SP1, TSPYL2, FOXM1, HIST1H1A, EZH2, ARID4A, CDK7, UHRF2, EP300, NPM1, CEBPG, PIN1, KAT2B, KAT2A, MCM3, HIST1H1D, CDC7, HIST1H1B, CDK2, H1F0, MCM2, CDC25C, CDC45, TUBG1, MITF, PGR, PSMD9, FZR1, NPAT, CDK5R1, CCNH, MARCKS, MYC, PSMA6, CCND3, CCND1, CCND2, RPA1, ACTL6A, KIF26B, SKP1, PPP1CA, PPP1CC, CCNG1, DSP, ACTB, HSP90AB1, FLNA, EEF1A1, HSPA8, HSP90AA1, ACTA1, HRNR, GAPDH, VCL, TUBB4B, S100A8, TUBB2A, MYH9, JUP, DCD, HSPD1, DSG1, EEF2, ENO1, TUBA1C, DYNC1H1, PRDX1, ANXA2, HSP90B1, PPIA, FASN, CLTC, HSPA5, PDE4D, FLG2, ATP5B, PRKDC, EIF4A1, HIST2H2BE, HIST1H2AH, SERPINH1, RPS18, KPRP, LDHB, NASP, RPS3, RAB15, TLN1, PKM, DSC1, FLNC, DPYSL3, LRPPRC, RPL35, GRN, PDIA3, AHNAK, ALDOA, RPL36, HNRNPK, PDIA4, YWHAE, DHX9, TPI1, CCT8, RPL23A, HMGB1, CCT3, DPYSL2, XRCC5, TPM3, AZGP1, RPL7, PRDX2, RPL26, LYZ, UBA1, ATP5A1, GANAB, HNRNPA1, TUFM, RPL8, PCBP2, CFL1, PHGDH, HYOU1, HNRNPU, PCMT1, MYH10, COPA, RPS16, LDHA, RPS4X, PFN1, CCT6A, SEMG1, PCBP1, TPM4, HSPA9, EEF1G, GNB2L1, TALDO1, PARP1, RPL32, TARS, CCT4, PODXL, PA2G4, TCP1, FLNB, PGD, MSN, ARF1, RPS19, RPS27A, RPS14, RPL12, HNRNPF, TKT, RPL11, CCT2, YWHAG, RPL27, MTHFD1, ARF4, CAND1, GTF2I, CSTA, GPI, RPS11, SLC25A4, VCP, CSE1L, YWHAZ, RPS2, EPRS, RPS20, SFPQ, HSPA4, GARS, HBB, RAN, RPS3A, RPL10A, SMARCA5, RPS15A, RPS13, CRABP1, GSTP1, ILF3, LGALS7, RPL22, FSCN1, PHB2, RPL19, TTN, DEK, CCT7, PSMD2, AHCY, P4HB, EIF4A3, IGF2BP3, TAGLN2, ARGLU1, CYCS, TRIM28, DHX15, MYL6, MCM7, RPS17, SARS, RPL30, FKBP4, ENO2, LARS, PUF60, HNRNPD, SUPT16H, MFAP1, SLC25A3, GOT2, PHB, PLEC, PSMD3, CCT5, RPL23, RPLP0, APOD, SPTBN1, PSAT1, KPNB1, PSMB6, DDX17, IARS, STMN1, RPL13, ANXA5, UGP2, CAD, SF3B3, PDIA6, SUB1, HMGB2, PTBP1, HMGA1, PGK1, SND1, RPL14, ST13, MCM6, EIF3A, QARS, RPL31, ESYT1, LMNA, MYOF, CALR, TRIM21, PRMT1, HK1, ACTN1, GDI1, IQGAP1, RPS5, ATP5O, YARS, SART3, SRSF7, VARS, PNN, RPS28, PPIB, RPL3, RPL27A, GLG1, CDK1, NOMO1, SMC4, EIF2S3, CASP3, PSMA5, IMPDH2, CTPS1, ATIC, FUS, RPS9, PRDX6, CBS, RPL34, RPS23, PAICS, RPS8, YWHAH, VDAC1, DDX3X, RBM17, HNRNPM, CYP2S1, PSMD11, SET, RPL10L, MYL12B, HADHA, RPS24, ATP5F1, RHOC, IDH1, PAFAH1B2, NPEPPS, PRDX3, VDAC2, NAP1L1, CKB, HADHB, OAT, HDLBP, PSMC6, YWHAQ, SNRPD2, PNP, RPS21, EIF3C, DDX21, SARNP, RPS12, RPS7, EIF3I, IDH2, CLIC1, TPT1, ATP1A1, ILF2, UBE2N, CLIC4, SPTAN1, WDR1, EIF3H, DDX39B, MARCKSL1, ASNS, KHSRP, RCC2, VIM, TOP1, FUBP1, RPL6, CYB5R3, AP1B1, FH, COPB1, DDX1, MIF, SMC1A, SMC3, ANXA1, PAFAH1B1, HNRNPC, CRABP2, RPL18, RPL28, BZW1, CUL4B, COG7, VAT1, DHRS1, MAGOHB, UPF1, COQ6, NCBP2-AS2, SERPINB9, SSBP1, ERH, TMED10, S100A6, ATP5L, AARS, CAPZB, PSMC5, EEF1D, RAB11B, TPP2, HCFC1, VPS35, UCHL1, MAPRE1, COX2, SEC23A, MSH2, MATR3, RAB5C, RRM1, EIF3E, RRAS2, SAP18, ACOT7, RAC1, PSMD8, DAD1, G3BP2, SSB, ALDH18A1, RPLP2, RPS10, NACA2, IPO7, NUMA1, ARPC2, USP7, ARHGDIA, GNB2, KPNA2, GCN1L1, DSTN, RPS27, AURKAIP1, VPS39, MDH2, SNRPF, HSPE1, ACP1, HMGN2, TXN, APOO, UBE2I, ELAVL2, SNRPE, NHP2L1, ATP5D, RBM3, ACOT13, SSR4, SNRPA, IFITM2, EIF5A2, ATP2A3, CUL1, COPS5, COPS6, TMEM54, LATS2, TTK, CDK20, ID2, ID3, TFDP1, CDX2, PRC1, UBTF, POLD1, CCP110, DBF4, FBXW7, STOML1, SMAD3, SMAD2, BRCA2, PML, HIST1H4A, CCNB2, TP73, PRKAR1A, NFYA, NFYB, NFYC, CTNNB1, PTMA, C12orf65, IL15RA, MAPRE2, PHLDA3, ACKR4, BTBD2, GOLGA2, CREBBP, CDK13, CDKN1C, CKS2, GMNN, MNAT1, CDK3, CDC20, TCOF1, CCNJ, MAPK15, SAMHD1, MAPT, ESR1, SCN5A, HIST1H2AB, HIST1H2BB, BARD1, CAPRIN1, CNBP, YBX3, DDX5, DST, E2F4, FAM133B, LIN37, MT1E, RPL37, SHROOM3, SRRM2, ALYREF, WDR77, LOC100419906, USP37, CTSA, POLR3H, GORASP1, C2CD5, GATA3, LATS1, ARF6, ALDOC, NOP2, RPE, POLR2A, NTRK1, OFD1, ACTG1, BUB1, ELMSAN1, CNTROB, CLTA, DAPK3, DBN1, DNMT1, FLII, GSN, ABLIM1, LMO7, MYO1B, MYO1C, MYO5A, MYO6, PPP1R12A, CDK16, PPP1CB, RAP1GDS1, ROBO1, S100A4, SVIL, TAF7, TMOD1, TPM1, TPM2, LUZP1, AKR7A2, LRRFIP2, BCLAF1, SEC16A, ARPC1B, RBM7, SYNCRIP, ZMYND11, SYNPO, LIMCH1, UHRF1BP1L, MPRIP, SPECC1L, CORO1C, RAI14, TES, ASTE1, TMOD3, TRA2A, RMDN1, MRPL27, LIMA1, BMP2K, YEATS2, CARKD, THAP11, AFAP1, ARPC5L, PARP10, DOCK7, TOP1MT, PGAM5, MYO18A, KLF10, KMT2E, POLL, UBE2T, UBE2H, SLBP, SIRT2, PLA2G4A, SMTNL2, GLB1, RNF157UBE3AUBQLN2, BPY2, PGR, BRCA1, BARD1, UBE2D2, UBE2D3, UBE2L3, LCK, BLK, TSC2, MCM7, UBE2D1, UBQLN1, ESR2, ESR1, RNF2, RAD23A, RAD23B, UBE3A, TP53, DLG1, SCRIB, CDKN1B, NELFCD, NDUFA13, ANXA1, MYH9, XRCC6, ACTA1, ANXA2, MYCBP2, GOLGA3, PHKA2, PHKB, C2orf44, PSMD3, PHKG2, CALM2, CALM1, PHKG1, PSMD4, FAF2, UBXN1, HSPA4, HSPA8, CFTR, PRDX1, PML, ARHGEF15, NOMO2, PDE1B, EID1, SUMO3, C11orf49, PARVA, YWHAE, SGK223, TCF19, HPCAL4, RMI1, TRIM65, POLE4, JADE1, HBA1, EIF4G1, AFTPH, TBC1D14, CEBPZ, YWHAZ, TTC3, PSAP, NCOA3, MAPK6, HIF1AN, NEURL4, HERC2, UBE2L6, UBC, SHBG, ASPM, EAPP, RARA, SCAMP1, SOD1, MDM2, APP, TXNL1, SF3B3, USP14, UNC45A, UFD1L, SRSF9, LSM5, DDX39B, TNPO3, AR, CEBPA, SACS, ARC, PTPN3, DR1, HSF1, IPO11, LSM1, ARPC1B, BTF3L4, DBNL, P3H1, LPP, LRSAM1, METTL1, NPLOC4, ARNTL, SHFM1, PSMD14, YOD1, MAGEA8, MEOX2, TAT, AFG3L1P, UBB, AHSP, ASAP3, ATG9A, KLHL38, UBE2E1, ADRM1, UCHL5, PSMC3, ARNTL2, SRPRB, CELA2B, MAGEA1, PLAUR, TRPV5, NTRK1, PSMC1, KRT1, KRT6B, PDIA3, ACTR3, GFAP, MNT, PDIA6, KRT7, CALR, KRT9, GTF3C1, KRT5, HSPA5, MDM1, ACTB, ACTBL2, TALDO1, ACTA2, HSP90AB1, RPS15A, SPINK1, ARHGDIB, SENP3, CTNNB1, GSK3B, ZNF746, E2F1, NSUN2, KDELR1, SMARCC2, COPS7B, MAP7D2, FUZ, RPH3A, FAM167A, SERHL2, COPS6, WBP2


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 CDK2_UBE3A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCDK2P24941DB06616BosutinibCyclin-dependent kinase 2small moleculeapproved

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RelatedDiseases for CDK2_UBE3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDK2C0025202melanoma1CTD_human
TgeneUBE3AC0004352Autistic Disorder3CTD_human;HPO
TgeneUBE3AC0014544Epilepsy1CTD_human;HPO
TgeneUBE3AC0162635Angelman Syndrome1CTD_human
TgeneUBE3AC0376634Craniofacial Abnormalities1CTD_human