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Fusion gene ID: 10833 |
FusionGeneSummary for E2F1_E2F1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: E2F1_E2F1 | Fusion gene ID: 10833 | Hgene | Tgene | Gene symbol | E2F1 | E2F1 | Gene ID | 1869 | 1869 |
| Gene name | E2F transcription factor 1 | E2F transcription factor 1 | |
| Synonyms | E2F-1|RBAP1|RBBP3|RBP3 | E2F-1|RBAP1|RBBP3|RBP3 | |
| Cytomap | 20q11.22 | 20q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor E2F1PBR3PRB-binding protein E2F-1RBAP-1RBBP-3retinoblastoma-associated protein 1retinoblastoma-binding protein 3 | transcription factor E2F1PBR3PRB-binding protein E2F-1RBAP-1RBBP-3retinoblastoma-associated protein 1retinoblastoma-binding protein 3 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q01094 | Q01094 | |
| Ensembl transtripts involved in fusion gene | ENST00000343380, | ENST00000343380, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: E2F1 [Title/Abstract] AND E2F1 [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 | E2F1 | GO:0006355 | regulation of transcription, DNA-templated | 12717439 |
| Hgene | E2F1 | GO:0010628 | positive regulation of gene expression | 15766563 |
| Hgene | E2F1 | GO:0043065 | positive regulation of apoptotic process | 15565177 |
| Hgene | E2F1 | GO:0043392 | negative regulation of DNA binding | 20176812 |
| Hgene | E2F1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20176812 |
| Hgene | E2F1 | GO:0045893 | positive regulation of transcription, DNA-templated | 21454377|22476863 |
| Hgene | E2F1 | GO:0048255 | mRNA stabilization | 15766563 |
| Tgene | E2F1 | GO:0006355 | regulation of transcription, DNA-templated | 12717439 |
| Tgene | E2F1 | GO:0010628 | positive regulation of gene expression | 15766563 |
| Tgene | E2F1 | GO:0043065 | positive regulation of apoptotic process | 15565177 |
| Tgene | E2F1 | GO:0043392 | negative regulation of DNA binding | 20176812 |
| Tgene | E2F1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20176812 |
| Tgene | E2F1 | GO:0045893 | positive regulation of transcription, DNA-templated | 21454377|22476863 |
| Tgene | E2F1 | GO:0048255 | mRNA stabilization | 15766563 |
| 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 |
| ChiTaRS3.1 | BG252912 | E2F1 | chr20 | 32264041 | + | E2F1 | chr20 | 32264011 | - |
| * 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-3UTR | ENST00000343380 | ENST00000343380 | E2F1 | chr20 | 32264041 | + | E2F1 | chr20 | 32264011 | - |
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FusionProtFeatures for E2F1_E2F1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| E2F1 | E2F1 |
| Transcription activator that binds DNA cooperativelywith DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whoseproducts are involved in cell cycle regulation or in DNAreplication. The DRTF1/E2F complex functions in the control ofcell-cycle progression from G1 to S phase. E2F1 bindspreferentially RB1 in a cell-cycle dependent manner. It canmediate both cell proliferation and TP53/p53-dependent apoptosis.Blocks adipocyte differentiation by binding to specific promotersrepressing CEBPA binding to its target gene promoters(PubMed:20176812). Positively regulates transcription of RRP1B(PubMed:20040599). {ECO:0000250|UniProtKB:Q61501,ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:12717439,ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:20040599,ECO:0000269|PubMed:20176812, ECO:0000269|PubMed:8170954}. | Transcription activator that binds DNA cooperativelywith DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whoseproducts are involved in cell cycle regulation or in DNAreplication. The DRTF1/E2F complex functions in the control ofcell-cycle progression from G1 to S phase. E2F1 bindspreferentially RB1 in a cell-cycle dependent manner. It canmediate both cell proliferation and TP53/p53-dependent apoptosis.Blocks adipocyte differentiation by binding to specific promotersrepressing CEBPA binding to its target gene promoters(PubMed:20176812). Positively regulates transcription of RRP1B(PubMed:20040599). {ECO:0000250|UniProtKB:Q61501,ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:12717439,ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:20040599,ECO:0000269|PubMed:20176812, ECO:0000269|PubMed:8170954}. |
| 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 E2F1_E2F1 |
| 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 E2F1_E2F1 |
| 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 |
| - 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 E2F1_E2F1 |
| 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 E2F1_E2F1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | E2F1 | C0025202 | melanoma | 2 | CTD_human |
| Hgene | E2F1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | E2F1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | E2F1 | C0025202 | melanoma | 2 | CTD_human |
| Tgene | E2F1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | E2F1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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