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Fusion gene ID: 11848 |
FusionGeneSummary for EPS15L1_BRD4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPS15L1_BRD4 | Fusion gene ID: 11848 | Hgene | Tgene | Gene symbol | EPS15L1 | BRD4 | Gene ID | 58513 | 23476 |
| Gene name | epidermal growth factor receptor pathway substrate 15 like 1 | bromodomain containing 4 | |
| Synonyms | EPS15R | CAP|HUNK1|HUNKI|MCAP | |
| Cytomap | 19p13.11 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related protein | bromodomain-containing protein 4chromosome-associated protein | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q9UBC2 | O60885 | |
| Ensembl transtripts involved in fusion gene | ENST00000455140, ENST00000248070, ENST00000535753, ENST00000594975, ENST00000602009, ENST00000597937, | ENST00000263377, ENST00000371835, ENST00000360016, ENST00000602230, | |
| Fusion gene scores | * DoF score | 15 X 11 X 10=1650 | 8 X 10 X 6=480 |
| # samples | 18 | 12 | |
| ** MAII score | log2(18/1650*10)=-3.1963972128035 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/480*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPS15L1 [Title/Abstract] AND BRD4 [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 |
| Tgene | BRD4 | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 19103749|23086925 |
| Tgene | BRD4 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19103749 |
| Tgene | BRD4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23086925|23317504 |
| Tgene | BRD4 | GO:0050727 | regulation of inflammatory response | 19103749 |
| Tgene | BRD4 | GO:1901407 | regulation of phosphorylation of RNA polymerase II C-terminal domain | 23086925 |
| 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 | BRCA | TCGA-AC-A2FM-01A | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| * 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 | ENST00000455140 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000455140 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000455140 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000455140 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000248070 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000248070 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000248070 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000248070 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000535753 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000535753 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000535753 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000535753 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000594975 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000594975 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000594975 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000594975 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000602009 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000602009 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000602009 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000602009 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000597937 | ENST00000263377 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000597937 | ENST00000371835 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-5UTR | ENST00000597937 | ENST00000360016 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
| 5CDS-intron | ENST00000597937 | ENST00000602230 | EPS15L1 | chr19 | 16545176 | - | BRD4 | chr19 | 15383944 | - |
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FusionProtFeatures for EPS15L1_BRD4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPS15L1 | BRD4 |
| Seems to be a constitutive component of clathrin-coatedpits that is required for receptor-mediated endocytosis. Involvedin endocytosis of integrin beta-1 (ITGB1) and transferrin receptor(TFR); internalization of ITGB1 as DAB2-dependent cargo but notTFR seems to require association with DAB2.{ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}. | Chromatin reader protein that recognizes and bindsacetylated histones and plays a key role in transmission ofepigenetic memory across cell divisions and transcriptionregulation. Remains associated with acetylated chromatinthroughout the entire cell cycle and provides epigenetic memoryfor postmitotic G1 gene transcription by preserving acetylatedchromatin status and maintaining high-order chromatin structure.During interphase, plays a key role in regulating thetranscription of signal-inducible genes by associating with the P-TEFb complex and recruiting it to promoters: BRD4 is required toform the transcriptionally active P-TEFb complex by displacingnegative regulators such as HEXIM1 and 7SKsnRNA complex from P-TEFb, thereby transforming it into an active form that can thenphosphorylate the C-terminal domain (CTD) of RNA polymerase II.Promotes phosphorylation of 'Ser-2' of the C-terminal domain (CTD)of RNA polymerase II. According to a report, directly acts as anatypical protein kinase and mediates phosphorylation of 'Ser-2' ofthe C-terminal domain (CTD) of RNA polymerase II; these datahowever need additional evidences in vivo (PubMed:22509028). Inaddition to acetylated histones, also recognizes and bindsacetylated RELA, leading to further recruitment of the P-TEFbcomplex and subsequent activation of NF-kappa-B. Also acts as aregulator of p53/TP53-mediated transcription: followingphosphorylation by CK2, recruited to p53/TP53 specific targetpromoters. {ECO:0000269|PubMed:22509028}. Isoform B: Acts as a chromatin insulator in the DNAdamage response pathway. Inhibits DNA damage response signaling byrecruiting the condensin-2 complex to acetylated histones, leadingto chromatin structure remodeling, insulating the region from DNAdamage response by limiting spreading of histone H2AFX/H2A.xphosphorylation. |
| 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 EPS15L1_BRD4 |
| 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 EPS15L1_BRD4 |
| 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 |
| EPS15L1 | AGFG1, STON2, EPN1, ITSN1, ITSN2, UBQLN1, GRB2, BIRC6, GBF1, NCAPG, PRPF4, ZZEF1, AP2M1, GNG5, TRAPPC2B, MOV10, NXF1, AGFG2, SPC25, NTRK1, MED4, XPO1, PLK1, KIAA1107, CDH1, AP2S1, RUNDC3A, LSR, FCHO1, NCKIPSD, CDR2, AURKA, UBC, DCAF7, USP15, SPAG9, MCM2, MCM4, MCM6, IVNS1ABP, GTF3C4, SMC1A, GAPVD1, ANK3, SBNO1, SMC3, CDK11A, SOX4, HSF1, TRIM25, TXNIP | BRD4 | RFC1, RFC2, RFC3, RFC4, RFC5, HIST4H4, SIPA1, MED12, MED14, MED24, MED17, CCNT1, CDK9, CCNT2, HEXIM1, HIST2H3C, HIST2H4A, KDM5B, EP300, AFF1, MESDC2, C8orf33, HIST1H3A, HIST1H4A, KAT8, YWHAZ, YWHAE, MED1, CHD4, JMJD6, BAIAP2, BAIAP2L1, RBM25, BRD3, BRD2, WHSC1, GLTSCR1, ATAD5, SMARCA4, ZNF592, BRD9, WHSC1L1, SIRT1, SIRT5, AK1, PGAM2, LDHC, CKM, ELAVL1, MYC, MLLT1, RPL6, PRPF40A, RN7SK, TCERG1, STAT3, GPSM1, FAM90A1, CYP1A1, AP3M1, NUMA1, DMAP1, RTF1, ZC3H18, MMGT1, SMC1A, CDC5L, CHD8, PTAR1, BRCA1, PTEN, FGFR3, KDM5C, DHFR, RB1, MAP2K1, PIP4K2A, CAMKV, CHEK2, CHEK1, WEE1, CDC7, INO80B, TRIM25, CUL1, CUL3, SPOP, AR, ERG |
| - 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 EPS15L1_BRD4 |
| 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 EPS15L1_BRD4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BRD4 | C0017636 | Glioblastoma | 2 | CTD_human |
| Tgene | BRD4 | C0002170 | Alopecia | 1 | CTD_human |
| Tgene | BRD4 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | BRD4 | C0020507 | Hyperplasia | 1 | CTD_human |
| Tgene | BRD4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Tgene | BRD4 | C0025149 | Medulloblastoma | 1 | CTD_human |
| Tgene | BRD4 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Tgene | BRD4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | BRD4 | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | BRD4 | C0085413 | Polycystic Kidney, Autosomal Dominant | 1 | CTD_human |
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