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Fusion gene ID: 537 |
FusionGeneSummary for ACTB_YWHAE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACTB_YWHAE | Fusion gene ID: 537 | Hgene | Tgene | Gene symbol | ACTB | YWHAE | Gene ID | 60 | 7531 |
| Gene name | actin beta | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | |
| Synonyms | BRWS1|PS1TP5BP1 | 14-3-3E|HEL2|KCIP-1|MDCR|MDS | |
| Cytomap | 7p22.1 | 17p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | 14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P60709 | P62258 | |
| Ensembl transtripts involved in fusion gene | ENST00000464611, ENST00000331789, | ENST00000264335, ENST00000571732, ENST00000573026, ENST00000575977, ENST00000498643, | |
| Fusion gene scores | * DoF score | 28 X 19 X 14=7448 | 10 X 8 X 15=1200 |
| # samples | 37 | 24 | |
| ** MAII score | log2(37/7448*10)=-4.33125589704248 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(24/1200*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACTB [Title/Abstract] AND YWHAE [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 | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
| Tgene | YWHAE | GO:0000165 | MAPK cascade | 12917326 |
| Tgene | YWHAE | GO:0034605 | cellular response to heat | 12917326 |
| Tgene | YWHAE | GO:0046827 | positive regulation of protein export from nucleus | 12917326 |
| Tgene | YWHAE | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
| Tgene | YWHAE | GO:0060306 | regulation of membrane repolarization | 11953308 |
| Tgene | YWHAE | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 11953308 |
| Tgene | YWHAE | GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 18029012 |
| Tgene | YWHAE | GO:1902309 | negative regulation of peptidyl-serine dephosphorylation | 11953308 |
| Tgene | YWHAE | GO:1905913 | negative regulation of calcium ion export across plasma membrane | 18029012 |
| 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 | CESC | TCGA-EA-A5FO-01A | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| TCGA | RV | KIRP | TCGA-DW-7838-01A | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| * 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 |
| intron-5UTR | ENST00000464611 | ENST00000264335 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-5UTR | ENST00000464611 | ENST00000571732 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-intron | ENST00000464611 | ENST00000573026 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-5UTR | ENST00000464611 | ENST00000575977 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-intron | ENST00000464611 | ENST00000498643 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-5UTR | ENST00000331789 | ENST00000264335 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-5UTR | ENST00000331789 | ENST00000571732 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-intron | ENST00000331789 | ENST00000573026 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-5UTR | ENST00000331789 | ENST00000575977 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
| intron-intron | ENST00000331789 | ENST00000498643 | ACTB | chr7 | 5567255 | - | YWHAE | chr17 | 1303494 | - |
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FusionProtFeatures for ACTB_YWHAE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACTB | YWHAE |
| 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 ACTB_YWHAE |
| 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 ACTB_YWHAE |
| 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 |
| ACTB | CFL1, CFL2, ACTB, DSTN, ACTG1, NCALD, RAB8B, MYC, SMARCA4, SMARCE1, SMARCC2, NCF1, RAC1, RAC2, PFN1, PCYT1B, CCT5, CCT2, SSH1, SSH2, SPTBN2, RUVBL2, MEPCE, RUVBL1, PSTPIP1, INO80, BCL7C, MGMT, CENPA, CARM1, EMD, MORF4L1, MORF4L2, MRGBP, ESR1, ACTR3, ACTR2, DMAP1, KAT5, CBL, UCHL5, SMN1, AGO4, SMAD3, TJP1, YWHAQ, PSMA3, BCL2L1, H2AFX, AIMP2, TK1, CDKN1A, FABP4, RCC1, TTR, ANXA7, HMMR, CTGF, POLR2A, TAF11, PCK1, VHL, PROM1, ATF3, HNRNPU, ELAVL1, ARRB2, ANGPTL4, DHX9, ERG, FBXO25, TINF2, ACD, POT1, PPP1CC, PPP1CA, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, CAND1, NEDD8, OSTF1, SHBG, MYOC, MKL1, LRRK2, SLC6A2, SNCA, UBASH3B, GRB2, PIK3R2, SHC1, CRK, EPS15, AP2M1, CYBB, IQGAP1, NSMAF, AKT1, ABLIM1, FPR1, A2M, MYH11, CORO1C, FHOD1, MAGOH, EIF4A3, HNF1A, SMURF1, VCP, TRAF3IP1, ERBB2, POLR1B, ESR2, FN1, VCAM1, HCK, DAB2, IQCB1, OTUB1, SMAD9, UBL4A, ITGA4, SVIL, PHB, BBS4, MAP1A, MAP2, NOS3, SLC12A3, DTNA, PAN2, PLG, ICAM1, CD81, ICAM3, MAPK7, AR, MYH9, ACE, RAD52, ENC1, CAV1, EP300, CSNK2B, KHDRBS1, PROSER2, RPL10A, COTL1, HNRNPD, PARK2, CDKN2A, RPA1, RPA2, RPA3, ASB9, ASB12, ZBTB1, HSPA5, ERRFI1, LGR4, CORO7, IVNS1ABP, STAU1, AMOT, HAUS1, CEP250, LGALS3BP, NEDD1, TP53, TUBG1, TUBGCP2, TUBGCP3, FUS, PA2G4, HDAC6, EHHADH, CAP2, WDYHV1, ALK, KAT2B, MDM2, ADA, MAGEA10, TPST1, LMX1B, USP46, DUSP19, HOXB5, HOMER1, PRSS23, HSD17B3, PNMA1, SLC30A6, HNRNPA1, SAMHD1, UNK, CORO1B, CAD, EEF1A1, EEF1A2, YARS, SCARNA22, HSPB2, TCP1, SRPK2, FLNA, PPP1CB, RAB2A, SYNPO, LIMA1, MYO18A, TRIM15, UBE3A, SKI, SNW1, CDC5L, ERBB3, EGFR, EPC1, MBTD1, PTPN1, GC, PHACTR2, PFN2, THRB, TMOD3, REG3A, DBN1, NEXN, TMCC2, COBL, CAP1, TWF2, RNASE3, SFXN5, NPB, SLC25A11, RPL15, PLEKHG6, PPIAL4G, CDK10, SCGB1A1, POLH, RIC3, NUS1, ACP1, IL1RL2, DUSP10, NXF5, THAP4, ZNF695, HTR1E, LSP1, RPS27, MEIS2, FBXL5, DEFA6, CLEC2D, UQCRB, TPGS2, CTNNB1, MTNR1A, CYLD, CCND2, FAM107A, HEY1, TES | YWHAE | IGF1R, GPRIN2, SORBS2, GRAP2, MAPK7, NDEL1, HDAC4, HDAC5, REM1, BAD, MAP3K10, CDC25C, MAP3K3, MAP3K1, MAP3K2, IRS1, NGFRAP1, SYN2, KCNH2, TNFAIP3, RAF1, CDC25B, TOP2A, TGFB1, CDC25A, USP43, POLR3H, HDAC7, MDM4, FOXO3, HIVEP2, LRMP, COX2, MYH10, PNLIP, SSFA2, YWHAB, YWHAZ, YWHAG, ARAF, YWHAH, HDAC9, KIAA0232, TLK1, CHAF1A, CAP2, YWHAQ, RAP1GAP2, SH3BP4, WWTR1, FAM13B, MSL2, ZNF839, RASAL3, WNK1, ENKD1, TBC1D3F, CGNL1, CEP95, ANKHD1-EIF4EBP3, ING1, SRRM2, FAN1, EMD, SAMSN1, EXO1, H2AFX, MYC, PRKAA1, PARD6G, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, DISC1, UBE3A, GAPDH, KAT8, HIST1H3A, HIST1H4A, TCEB3, BRD4, CALM1, FBXO4, CDKN1B, TRAT1, RARRES3, ARRB1, ARRB2, CBL, ACD, POT1, CUL3, CDK2, CUL1, DCUN1D1, NEDD8, PTPN14, MARK3, MARK2, MEX3B, LRRK2, AKT1, ACTA2, CBX3, HNF1A, HSP90AB1, NPM1, ATP5B, ATP5A1, STOML2, CLNS1A, IPO8, KPNB1, RPLP0, RPL6, RPL4, RPS3, RPS8, DNAJA1, EIF4B, EIF3E, EEF1G, EEF1A2, HNRNPA2B1, ILF2, RUVBL2, RCN2, TUBB, TUBB4B, TUBB2B, PRPSAP1, TUBA3E, DDX21, ADH1B, ADH4, AGXT, HIST2H4B, HNRNPA3, HNRNPC, RBMY1A1, SF3B1, PCBP1, RBM10, MAP3K7, TBK1, PPM1B, SPIN1, CDC37, PHB, PRPSAP2, PRPS1, QPCTL, TMPO, C11orf84, HDX, CFAP43, VCP, ATXN1, FN1, VCAM1, BRAF, MAP2K1, PARD3, KIF5B, KLC2, LMO7, TBC1D4, HSPA1A, KLC3, KLC4, KLC1, CLASP2, LIMA1, TSC2, CLASP1, HSPA8, PAK4, RAB11FIP2, MAST3, TBC1D1, KIF1C, OSBPL3, TIAM1, ABLIM1, LARP1, BAIAP2, IRS2, SHROOM2, LSR, KIF1B, RAB11FIP1, MLLT4, MAST2, PFKFB2, CDK18, PKP2, DENND4A, TP53BP2, CGN, ZFP36L2, TUBA1A, KSR1, RABEP1, EIF4E2, CSNK1A1, PDZD11, PRKCI, DCAF7, NADK, USP8, C1QBP, TSC1, REEP1, KIF23, SLC25A6, SRGAP2, FAM53C, TRIP11, BCAR1, CRTC1, RASSF8, CEP250, VAMP8, GRB2, TRIM32, NOS2, IL7R, UBL4A, ITGA4, CBX4, ABL1, MST1R, PAN2, RAD52, BAG3, GSTA1, FTH1, CDK11B, SRSF1, SRSF6, SRSF4, NOLC1, TRA2B, PLEKHO2, HMHA1, SRSF7, NCBP1, DOK3, VASP, KIAA0930, GAB2, KIAA0226, PIK3R4, SGK223, RCHY1, IGHG1, UVRAG, SRSF2, FBXO6, RASSF2, SAV1, YAP1, PARK2, PAFAH1B2, PPP1R2, PROSC, RAP1GDS1, TMOD3, TNFAIP8, TUBB2A, UBXN1, VCL, XPO1, ALDH7A1, ASNS, ATIC, CAPN2, CAPNS1, EIF5, FERMT2, G6PD, GSS, ISOC1, MCTS1, STK26, OGFOD1, PAK2, PDHB, PDIA4, PTMA, SCPEP1, TBCB, TWF2, UBE2R2, IRS4, SIK3, SIK2, CEP57, TP53, GRB10, DTL, HUWE1, FBXW11, CUL7, OBSL1, CCDC8, MAST1, CDK16, TNK1, BTRC, NKD2, DMTN, TEX33, EPB41L3, WWC1, HNRNPA1, HSPB1, UNK, ACAT2, CALR, CENPE, MACF1, MAPK14, MCFD2, POLR2D, PSMB2, SHMT2, SNRPD1, ACTR6, HNRNPL, NPM3, PGK1, PSMC1, ZPR1, NTRK1, LCA5, CENPJ, PRICKLE3, MYH11, TSNAX, CCDC88A, CRY1, CRY2, MCM2, CDC5L, ERRFI1, U2AF2, PRDX6, NFATC2, SNF8, ANKZF1, SMAGP, TCEANC, LCP2, METAP2, MAGEB4, CHST11, ZC3HC1, MCM10, DDX54, C8orf59, NAF1, FGF12, GSTM3, STAC, FAM64A, ATP6V0B, FLJ25758, CDC73, WWP2, CDH1, CEP131, PCM1, PPM1H, PTPN3, SSH1, TENC1, SMTNL2, PLEKHG5, SAMD4A, SPATA13, RIN1, TFEB, TESPA1, SAMD4B, FAM163A, CRTC2, FAM189A2, PAK6, RBM3, RAB3IP, CBY1, CEP170, INPP5E, CYLD, COX15, DLD, DLST, DNM1L, SDHA, SOAT1, VDAC1, TRIM25, BRCA1, BRD1, BRMS1 |
| - 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 ACTB_YWHAE |
| 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 |
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RelatedDiseases for ACTB_YWHAE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACTB | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | ACTB | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | ACTB | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
| Hgene | ACTB | C0013393 | Dysostoses | 1 | CTD_human |
| Hgene | ACTB | C0013421 | Dystonia | 1 | CTD_human |
| Hgene | ACTB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human;HPO |
| Hgene | ACTB | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | ACTB | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | ACTB | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | ACTB | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | ACTB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | ACTB | C0242184 | Hypoxia | 1 | CTD_human |
| Hgene | ACTB | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | ACTB | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| Hgene | ACTB | C1846331 | Juvenile-onset dystonia | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ACTB | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET;UNIPROT |
| Tgene | YWHAE | C0036341 | Schizophrenia | 4 | PSYGENET |
| Tgene | YWHAE | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Tgene | YWHAE | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
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