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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:EPS15-C1orf185 (FusionGDB2 ID:HG2060TG284546) |
Fusion Gene Summary for EPS15-C1orf185 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPS15-C1orf185 | Fusion gene ID: hg2060tg284546 | Hgene | Tgene | Gene symbol | EPS15 | C1orf185 | Gene ID | 2060 | 284546 |
| Gene name | epidermal growth factor receptor pathway substrate 15 | chromosome 1 open reading frame 185 | |
| Synonyms | AF-1P|AF1P|MLLT5 | - | |
| Cytomap | ('EPS15')('C1orf185') 1p32.3 | 1p32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1p | uncharacterized protein C1orf185 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P42566 | Q5T7R7 | |
| Ensembl transtripts involved in fusion gene | ENST00000371730, ENST00000371733, ENST00000396122, ENST00000493793, | ||
| Fusion gene scores | * DoF score | 17 X 13 X 11=2431 | 2 X 1 X 2=4 |
| # samples | 17 | 2 | |
| ** MAII score | log2(17/2431*10)=-3.83794324189103 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: EPS15 [Title/Abstract] AND C1orf185 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | EPS15(51984871)-C1orf185(51578136), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | EPS15-C1orf185 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EPS15-C1orf185 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 | EPS15 | GO:0048268 | clathrin coat assembly | 12807910 |
| Fusion gene information * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | GBM | TCGA-27-1832-01A | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
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Fusion Gene ORF analysis for EPS15-C1orf185 |
| 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-3UTR | ENST00000371730 | ENST00000474016 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| 5CDS-3UTR | ENST00000371733 | ENST00000474016 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| 5CDS-5UTR | ENST00000371730 | ENST00000467127 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| 5CDS-5UTR | ENST00000371733 | ENST00000467127 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| Frame-shift | ENST00000371730 | ENST00000371759 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| Frame-shift | ENST00000371733 | ENST00000371759 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-3CDS | ENST00000396122 | ENST00000371759 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-3CDS | ENST00000493793 | ENST00000371759 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-3UTR | ENST00000396122 | ENST00000474016 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-3UTR | ENST00000493793 | ENST00000474016 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-5UTR | ENST00000396122 | ENST00000467127 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| intron-5UTR | ENST00000493793 | ENST00000467127 | EPS15 | chr1 | 51984871 | - | C1orf185 | chr1 | 51578136 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EPS15-C1orf185 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| EPS15 | chr1 | 51984870 | - | C1orf185 | chr1 | 51578135 | + | 0.000153852 | 0.9998461 |
| EPS15 | chr1 | 51984870 | - | C1orf185 | chr1 | 51578135 | + | 0.000153852 | 0.9998461 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for EPS15-C1orf185 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:51984871/:51578136) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPS15 | C1orf185 |
| FUNCTION: Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269|PubMed:16903783, ECO:0000269|PubMed:18362181, ECO:0000269|PubMed:19458185, ECO:0000269|PubMed:22648170}. |
| 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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Fusion Gene Sequence for EPS15-C1orf185 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for EPS15-C1orf185 |
| 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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Related Drugs for EPS15-C1orf185 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EPS15-C1orf185 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C0004238 | Atrial Fibrillation | 1 | CTD_human | |
| Tgene | C0235480 | Paroxysmal atrial fibrillation | 1 | CTD_human | |
| Tgene | C2585653 | Persistent atrial fibrillation | 1 | CTD_human | |
| Tgene | C3468561 | familial atrial fibrillation | 1 | CTD_human |
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