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Fusion gene ID: 11684 |
FusionGeneSummary for EP300_FBLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EP300_FBLN1 | Fusion gene ID: 11684 | Hgene | Tgene | Gene symbol | EP300 | FBLN1 | Gene ID | 2033 | 2192 |
| Gene name | E1A binding protein p300 | fibulin 1 | |
| Synonyms | KAT3B|RSTS2|p300 | FBLN|FIBL1 | |
| Cytomap | 22q13.2 | 22q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone acetyltransferase p300E1A-associated protein p300E1A-binding protein, 300kDhistone butyryltransferase p300histone crotonyltransferase p300p300 HATprotein propionyltransferase p300 | fibulin-1 | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | Q09472 | P23142 | |
| Ensembl transtripts involved in fusion gene | ENST00000263253, | ENST00000348697, ENST00000402984, ENST00000262722, ENST00000327858, ENST00000442170, ENST00000340923, ENST00000476366, | |
| Fusion gene scores | * DoF score | 16 X 11 X 11=1936 | 12 X 11 X 7=924 |
| # samples | 17 | 13 | |
| ** MAII score | log2(17/1936*10)=-3.50947230113689 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/924*10)=-2.8293812283876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EP300 [Title/Abstract] AND FBLN1 [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 | EP300 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10733570 |
| Hgene | EP300 | GO:0001666 | response to hypoxia | 9887100|15261140 |
| Hgene | EP300 | GO:0006355 | regulation of transcription, DNA-templated | 15261140 |
| Hgene | EP300 | GO:0006473 | protein acetylation | 21030595|24939902 |
| Hgene | EP300 | GO:0006475 | internal protein amino acid acetylation | 18722353 |
| Hgene | EP300 | GO:0010742 | macrophage derived foam cell differentiation | 26504087 |
| Hgene | EP300 | GO:0016573 | histone acetylation | 25818647 |
| Hgene | EP300 | GO:0018076 | N-terminal peptidyl-lysine acetylation | 12435739 |
| Hgene | EP300 | GO:0018393 | internal peptidyl-lysine acetylation | 17403783 |
| Hgene | EP300 | GO:0018394 | peptidyl-lysine acetylation | 23962722 |
| Hgene | EP300 | GO:0032460 | negative regulation of protein oligomerization | 23962722 |
| Hgene | EP300 | GO:0034644 | cellular response to UV | 24939902 |
| Hgene | EP300 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17403783 |
| Hgene | EP300 | GO:0043627 | response to estrogen | 11581164 |
| Hgene | EP300 | GO:0043923 | positive regulation by host of viral transcription | 16687403 |
| Hgene | EP300 | GO:0043969 | histone H2B acetylation | 23415232 |
| Hgene | EP300 | GO:0045815 | positive regulation of gene expression, epigenetic | 25818647 |
| Hgene | EP300 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12586840|18722353 |
| Hgene | EP300 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 10518217|25818647 |
| Hgene | EP300 | GO:0060765 | regulation of androgen receptor signaling pathway | 18487222 |
| Hgene | EP300 | GO:0061921 | peptidyl-lysine propionylation | 17267393 |
| Hgene | EP300 | GO:0090043 | regulation of tubulin deacetylation | 18722353 |
| Hgene | EP300 | GO:0140066 | peptidyl-lysine crotonylation | 25818647 |
| Hgene | EP300 | GO:0140067 | peptidyl-lysine butyrylation | 17267393 |
| Tgene | FBLN1 | GO:0001933 | negative regulation of protein phosphorylation | 11792823 |
| Tgene | FBLN1 | GO:0007162 | negative regulation of cell adhesion | 11792823 |
| Tgene | FBLN1 | GO:0007229 | integrin-mediated signaling pathway | 11792823 |
| Tgene | FBLN1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 11792823 |
| Tgene | FBLN1 | GO:0072378 | blood coagulation, fibrin clot formation | 7642629 |
| Tgene | FBLN1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11792823 |
| Tgene | FBLN1 | GO:2000146 | negative regulation of cell motility | 11792823 |
| Tgene | FBLN1 | GO:2000647 | negative regulation of stem cell proliferation | 11238726 |
| 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-FS-A4F4-06A | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| * 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 |
| Frame-shift | ENST00000263253 | ENST00000348697 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000402984 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000262722 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000327858 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000442170 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000340923 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
| 5CDS-intron | ENST00000263253 | ENST00000476366 | EP300 | chr22 | 41551117 | + | FBLN1 | chr22 | 45996187 | + |
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FusionProtFeatures for EP300_FBLN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EP300 | FBLN1 |
| Functions as histone acetyltransferase and regulatestranscription via chromatin remodeling (PubMed:23415232,PubMed:23934153, PubMed:8945521). Acetylates all four corehistones in nucleosomes. Histone acetylation gives an epigenetictag for transcriptional activation (PubMed:23415232,PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation bybinding specifically to phosphorylated CREB protein. Mediatesacetylation of histone H3 at 'Lys-122' (H3K122ac), a modificationthat localizes at the surface of the histone octamer andstimulates transcription, possibly by promoting nucleosomeinstability. Mediates acetylation of histone H3 at 'Lys-27'(H3K27ac) (PubMed:23911289). Also functions as acetyltransferasefor nonhistone targets. Acetylates 'Lys-131' of ALX1 and acts asits coactivator (PubMed:12929931). Acetylates SIRT2 and isproposed to indirectly increase the transcriptional activity ofTP53 through acetylation and subsequent attenuation of SIRT2deacetylase function (PubMed:18722353). Acetylates HDAC1 leadingto its inactivation and modulation of transcription(PubMed:16762839). Acts as a TFAP2A-mediated transcriptionalcoactivator in presence of CITED2 (PubMed:12586840). Plays a roleas a coactivator of NEUROD1-dependent transcription of thesecretin and p21 genes and controls terminal differentiation ofcells in the intestinal epithelium. Promotes cardiac myocyteenlargement. Can also mediate transcriptional repression.Acetylates FOXO1 and enhances its transcriptional activity(PubMed:15890677). Acetylates BCL6 wich disrupts its ability torecruit histone deacetylases and hinders its transcriptionalrepressor activity (PubMed:12402037). Participates in CLOCK orNPAS2-regulated rhythmic gene transcription; exhibits a circadianassociation with CLOCK or NPAS2, correlating with increase inPER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter(PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essentialfor its transcriptional coactivator activity (PubMed:16617102).Acetylates XBP1 isoform 2; acetylation increases protein stabilityof XBP1 isoform 2 and enhances its transcriptional activity(PubMed:20955178). Acetylates PCNA; acetylation promotes removalof chromatin-bound PCNA and its degradation during nucleotideexcision repair (NER) (PubMed:24939902). Acetylates MEF2D(PubMed:21030595). Acetylates and stabilizes ZBTB7B protein byantagonizing ubiquitin conjugation and degragation, this mechanismmay be involved in CD4/CD8 lineage differentiation(PubMed:20810990). In addition to protein acetyltransferase, canuse different acyl-CoA substrates, such as (2E)-butenoyl-CoA(crotonyl-CoA), butanoyl-CoA (butyryl-CoA) or propanoyl-CoA(propionyl-CoA), and is able to mediate protein crotonylation,butyrylation or propionylation, respectively (PubMed:25818647,PubMed:17267393). Acts as a histone crotonyltransferase;crotonylation marks active promoters and enhancers and confersresistance to transcriptional repressors (PubMed:25818647).Histone crotonyltransferase activity is dependent on theconcentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate andsuch activity is weak when (E)-but-2-enoyl-CoA (crotonyl-CoA)concentration is low (PubMed:25818647). Also acts as a histonebutyryltransferase; butyrylation marks active promoters(PubMed:17267393). {ECO:0000250|UniProtKB:B2RWS6,ECO:0000269|PubMed:10733570, ECO:0000269|PubMed:11430825,ECO:0000269|PubMed:11701890, ECO:0000269|PubMed:12402037,ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:12929931,ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:15186775,ECO:0000269|PubMed:15890677, ECO:0000269|PubMed:16617102,ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17267393,ECO:0000269|PubMed:18722353, ECO:0000269|PubMed:18995842,ECO:0000269|PubMed:20810990, ECO:0000269|PubMed:21030595,ECO:0000269|PubMed:23415232, ECO:0000269|PubMed:23911289,ECO:0000269|PubMed:23934153, ECO:0000269|PubMed:24939902,ECO:0000269|PubMed:25818647, ECO:0000269|PubMed:8945521,ECO:0000305|PubMed:20955178}. (Microbial infection) In case of HIV-1 infection, it isrecruited by the viral protein Tat. Regulates Tat'stransactivating activity and may help inducing chromatinremodeling of proviral genes. Binds to and may be involved in thetransforming capacity of the adenovirus E1A protein.{ECO:0000269|PubMed:10545121, ECO:0000269|PubMed:11080476}. |
| 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 EP300_FBLN1 |
| 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 EP300_FBLN1 |
| 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 |
| EP300 | TFAP2A, EGR1, MAF, PROX1, CITED2, JMY, BRCA1, NCOA3, TP53, SS18L1, PIAS3, CLOCK, ARNTL, NPAS2, KLF5, ING4, ING5, N4BP2, MEF2D, PPARG, ESR1, KAT2B, RELA, YY1, SMAD2, ETS1, ETS2, ELK1, SS18, CDX2, PAX6, CREB1, USF2, FEN1, EP300, MEF2A, THRA, RORA, MYOD1, TSG101, MYBL2, ING1, SMAD1, TWIST1, NEUROD1, HAND2, DTX1, ASCL1, GPS2, HNRNPU, SMAD7, MAML1, EID1, RBM14, CITED4, HIF1A, MDM4, NCOA6, TADA3, GATA6, BCL3, TCF3, MGMT, DDX5, CITED1, PELP1, SREBF2, NFATC2, TRIP4, STAT2, STAT1, TDG, NUP98, TRERF1, TGS1, NEUROG1, SNIP1, SMAD4, IRF2, STAT3, NR4A1, HNF1A, LEF1, MEF2C, MDM2, CCND1, PPARA, PCNA, XPA, TAL1, PTMA, CEBPB, POLR2A, COPS6, SUB1, STAT6, ZBTB17, HIST3H3, HIST4H4, TAF1B, NAP1L1, NAP1L4, CREBBP, USF1, HDAC6, RECQL4, BTRC, ANAPC7, ANAPC5, CDC16, ANAPC2, CDH1, CDC20, HDAC3, CDT1, ATF4, REL, DDX17, MAX, SP1, MAP3K5, PAK2, GRB2, CHUK, NOTCH1, ELSPBP1, SOX9, HIST1H3A, CTBP2, KAT6A, TBX21, SIRT2, NCOR1, NCOR2, PARP1, PPARGC1A, CTTN, PPARD, CARM1, RUNX1, HIPK2, ESR2, SMAD3, PLAGL1, HDAC1, ING2, SP3, RUNX2, CALCOCO1, GTF3C1, GTF3C3, GTF3C2, GTF3C5, MTA1, SMAD5, VHL, RUNX3, HSP90AA2P, NFKB1, IRF1, HIST2H2AC, HIST1H4A, MYC, JUND, ETV1, KLF13, PGR, PTMS, JUN, BCL6, AR, ATXN3, CTBP1, MTF1, NPM1, GRIP1, RARA, HIST1H2AB, HIST1H2BB, SREBF1, DEK, ATXN7, YAP1, TP73, HIST1H1D, HIST2H2AB, VDR, MYB, SRCAP, PRMT1, CDKN1A, GATA4, NFYB, TCF12, JUNB, SRY, PRDM2, CTF1, KPNA2, HIST2H2BE, AKT1, XRCC6, GATA2, SNW1, NCOA1, KLF4, NR3C1, FOSL1, CTNNB1, NFATC1, MAPK1, PAX5, GABPA, KDM1A, ATR, NUTM1, BRD4, KLF8, TGFBR1, IRF5, ZBTB7B, MAPT, RPS6KB1, RPS6KB2, NR1H4, FOXO3, SOX4, HOXD10, HOXD4, SMARCA2, MDC1, DDX24, ACTA1, ANXA2, HERC1, TP53BP1, MSH6, RAD50, NBN, MRE11A, NEDD1, ACTA2, CRTC2, IRF3, ATF2, POU3F2, TBP, GTF2B, CDK2, CRX, HMGN1, HMGN2, AHR, ARNT, RPS6KA5, NUPR1, PAXIP1, CXCL8, MAGEA11, NCOA2, IRF7, PCK1, BAG6, SPHK1, NFYA, KLF16, KAT5, MAPK14, HBP1, TACC2, FOS, FOSB, FOSL2, RXRA, TCF4, PIN1, MAP9, STAT5A, KLF11, ZNF148, DDB2, DDB1, CD44, GAPDH, ERCC8, FBXO3, TNK2, ZBTB16, SKP2, HIST2H3C, HIST2H4A, ZNF76, EPAS1, HIST1H1A, PIK3R1, NABP2, PKM, APEX1, ASCL2, YBX1, CBX8, STRAP, TCL1A, ATG7, KLF1, MYBBP1A, RPS26, TNIP2, GOLGA2, CFH, DECR2, PLG, MAGED1, TINAGL1, KRT18, IMMT, MSTO1, WDR59, EWSR1, EPO, GAA, ITIH3, PCK2, PLSCR1, POLD2, RPL27, SEPP1, THPO, TRAF2, MCM3AP, NOXA1, HNRNPUL1, FBXL5, SERTAD1, UBQLN1, KCTD5, PLSCR2, VPS18, SAV1, HPS6, ZC3H12A, ARSF, C1R, CLTC, DAO, CNOT4, BCAS2, ATF5, ACSM5, ACTB, DYRK1B, DYRK1A, PTGS2, DDIT3, COPS2, ZBTB48, SIRT1, ZBTB8A, E2F1, AURKB, COMMD1, PRDM6, ELF3, FOXO1, KLF2, HSPA5, FBXW8, FBXW2, UBE2D1, SENP3, BANP, ASCC1, TERF2, TERF1, CEBPD, PRKCB, PRKCA, PRKCD, PAX8, ZEB1, FOXP3, FHL1, RB1, NANOG, BRMS1, PPP1R13B, TP53BP2, PPP1R13L, CCNB1, TP63, SATB1, UBC, MITF, EID2, CDK1, SPIB, MAPK8, CRTC1, MAML2, POLB, PPP2R5C, PPP2CA, DNA2, PDHX, FHL2, ASH2L, CXXC1, SETD1A, WDR82, WDR5, RBBP5, PRKAA1, NEIL2, MN1, DYNC1I1, BMI1, SUMO2, FLII, ILF2, CCNA2, C3orf62, BRD7, ZBTB33, RERE, KLF15, ZBTB49, ORC2, MCM2, PRKDC, MCM4, MCM3, ILF3, MCM5, EEF2, EEF1A1, MORF4L1, RUVBL2, AUTS2, TCF7L2, UBE2I, MED23, COBL, SDC1, PSMD10, SNAI1, ZNF350, SMC1A, HEMGN, GATA1, NR3C2, GCKR, CIITA, YWHAZ, ITGAV, MKL1, ZEB2, GLUL, CHD4, HSF1, RORC, SRC, HNRNPA2B1, CTGF, SPATA1, HSPA8, JUP, LAMP2, TRIM25, XRCC5, MTDH, PIAS1, ARHGDIA, RPTOR, MTOR | FBLN1 | MPG, APP, NID1, ELN, FBLN1, FGB, FN1, NOV, CTGF, CACNA1A, ATN1, GFI1B, SKIL, SMAD4, TCF7L2, ADAMTSL4, TAF9, SMAD3, NOTCH3, PLSCR1, TDGF1, LTBP4, TANK, YWHAQ, NEDD1, APOA1, BHLHE40, ADAMTSL2, EDC4, DKK1, LGALS9, FCN1, PLSCR4, SFRP4, KCTD9, PTPRK, PSG1, PSG3, WNT4, ZFP41, IFI30, NLGN3, DDIAS, OCLN, DEFA1, COLQ, WNT7A, IRF9, PAK7, EFEMP1, ZNF517, NELL1, FAM19A3, PLA2G10, CCDC89, TYW3, AGRP, TRIM25, MCPH1 |
| - 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 EP300_FBLN1 |
| 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 EP300_FBLN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EP300 | C0279626 | Squamous cell carcinoma of esophagus | 2 | CTD_human |
| Hgene | EP300 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | EP300 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | EP300 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | EP300 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Hgene | EP300 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | EP300 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | EP300 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | EP300 | C0028754 | Obesity | 1 | CTD_human |
| Hgene | EP300 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Hgene | EP300 | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| Hgene | EP300 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | EP300 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | EP300 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | EP300 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | FBLN1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | FBLN1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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