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Fusion gene ID: 6553 |
FusionGeneSummary for CDK2_UBE3A |
Fusion gene summary |
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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
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 |
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 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 |
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. |
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 |
Main function of each fusion partner protein. (from UniProt) |
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}. |
Retention 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 . * 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 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CDK2_UBE3A |
Drugs targeting genes involved in this fusion gene. (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 |
Diseases associated with fusion partners. (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 |