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Fusion gene ID: 6553 |
FusionGeneSummary for CDK2_UBE3A |
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Fusion gene information | Fusion gene name: CDK2_UBE3A | Fusion gene ID: 6553 | Hgene | Tgene | Gene symbol | CDK2 | UBE3A | Gene ID | 1017 | 7337 |
Gene name | cyclin dependent kinase 2 | ubiquitin protein ligase E3A | |
Synonyms | CDKN2|p33(CDK2) | ANCR|AS|E6-AP|EPVE6AP|HPVE6A | |
Cytomap | 12q13.2 | 15q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclin-dependent kinase 2cdc2-related protein kinasecell division protein kinase 2p33 protein kinase | ubiquitin-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 date | 20180527 | 20180523 | |
UniProtAcc | P24941 | Q05086 | |
Ensembl transtripts involved in fusion gene | ENST00000266970, ENST00000553376, ENST00000440311, ENST00000354056, ENST00000556656, | ENST00000232165, ENST00000438097, ENST00000566215, ENST00000428984, ENST00000397954, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
# samples | 4 | 1 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CDK2 | GO:0006468 | protein phosphorylation | 12944431|28666995 |
Hgene | CDK2 | GO:0008284 | positive regulation of cell proliferation | 10767298 |
Hgene | CDK2 | GO:0016572 | histone phosphorylation | 11746698 |
Hgene | CDK2 | GO:0018105 | peptidyl-serine phosphorylation | 23184662 |
Hgene | CDK2 | GO:0060968 | regulation of gene silencing | 20935635 |
Tgene | UBE3A | GO:0031398 | positive regulation of protein ubiquitination | 17108031 |
Tgene | UBE3A | GO:0032570 | response to progesterone | 16772533 |
Tgene | UBE3A | GO:0050847 | progesterone receptor signaling pathway | 16772533 |
Tgene | UBE3A | GO:0051865 | protein autoubiquitination | 24105792 |
Tgene | UBE3A | GO:0070936 | protein K48-linked ubiquitination | 12890688 |
![]() (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 | RV | SKCM | TCGA-EE-A2ML-06A | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
* 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-5UTR | ENST00000266970 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
5CDS-intron | ENST00000266970 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
5CDS-5UTR | ENST00000266970 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
5CDS-intron | ENST00000266970 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
5CDS-intron | ENST00000266970 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000553376 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000553376 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000553376 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000553376 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000553376 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000440311 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000440311 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000440311 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000440311 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000440311 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000354056 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000354056 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000354056 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000354056 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000354056 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000556656 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000556656 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-5UTR | ENST00000556656 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000556656 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
intron-intron | ENST00000556656 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
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FusionProtFeatures for CDK2_UBE3A |
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Hgene | Tgene |
CDK2 | UBE3A |
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}. |
![]() * 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 CDK2_UBE3A |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CDK2 | CDKN3, 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, RNF157 | UBE3A | UBQLN2, 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 |
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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 CDK2_UBE3A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CDK2 | P24941 | DB06616 | Bosutinib | Cyclin-dependent kinase 2 | small molecule | approved |
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RelatedDiseases for CDK2_UBE3A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CDK2 | C0025202 | melanoma | 1 | CTD_human |
Tgene | UBE3A | C0004352 | Autistic Disorder | 3 | CTD_human;HPO |
Tgene | UBE3A | C0014544 | Epilepsy | 1 | CTD_human;HPO |
Tgene | UBE3A | C0162635 | Angelman Syndrome | 1 | CTD_human |
Tgene | UBE3A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |