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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:CIC-DUX4 (FusionGDB2 ID:16792) |
Fusion Gene Summary for CIC-DUX4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CIC-DUX4 | Fusion gene ID: 16792 | Hgene | Tgene | Gene symbol | CIC | DUX4 | Gene ID | 23152 | 100288687 |
| Gene name | capicua transcriptional repressor | double homeobox 4 | |
| Synonyms | MRD45 | DUX4L | |
| Cytomap | 19q13.2 | 4q35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein capicua homolog | double homeobox protein 4double homeobox 4-likedouble homeobox protein 10double homeobox protein 4/10 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96RK0 | Q9UBX2 | |
| Ensembl transtripts involved in fusion gene | ENST00000160740, ENST00000572681, ENST00000575354, ENST00000575839, | ENST00000554285, ENST00000556625, ENST00000605758, | |
| Fusion gene scores | * DoF score | 13 X 12 X 6=936 | 2 X 2 X 2=8 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/936*10)=-2.96347412397489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CIC [Title/Abstract] AND DUX4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | |||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | DUX4 | GO:0006915 | apoptotic process | 17588759 |
| Tgene | DUX4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17984056|24589735|30315230 |
| Tgene | DUX4 | GO:0070317 | negative regulation of G0 to G1 transition | 24589735 |
| Fusion gene breakpoints across CIC (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across DUX4 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
| ChimerKB3 | . | . | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| ChimerKB4 | . | . | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
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Fusion Gene ORF analysis for CIC-DUX4 |
| 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-intron | ENST00000160740 | ENST00000554285 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000160740 | ENST00000556625 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000160740 | ENST00000605758 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000572681 | ENST00000554285 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000572681 | ENST00000556625 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000572681 | ENST00000605758 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000575354 | ENST00000554285 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000575354 | ENST00000556625 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 5CDS-intron | ENST00000575354 | ENST00000605758 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| intron-intron | ENST00000575839 | ENST00000554285 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| intron-intron | ENST00000575839 | ENST00000556625 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| intron-intron | ENST00000575839 | ENST00000605758 | CIC | chr19 | 42799949 | + | DUX4 | chr10 | 135484981 | + |
| 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 CIC-DUX4 |
| 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) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| 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 CIC-DUX4 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - 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 |
| CIC | DUX4 |
| FUNCTION: Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. {ECO:0000250|UniProtKB:Q924A2}. | FUNCTION: [Isoform 1]: Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459457, PubMed:28459454, PubMed:29572508, PubMed:30540931, PubMed:30315230). Binds to chromatin containing histone H3 acetylated at 'Lys-27' (H3K27ac) and promotes deacetylation of H3K27ac. In parallel, binds to chromatin that lacks histone H3 acetylation at 'Lys-27' (H3K27ac) and recruits EP300 and CREBBP to promote acetylation of histone H3 at 'Lys-27' at new sites (PubMed:26951377). Involved in transcriptional regulation of numerous genes, primarily as transcriptional activator, but mediates also repression of a set of target genes (PubMed:17984056, PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:28459454, PubMed:29618456, PubMed:30540931, PubMed:29572508). Promotes expression of ZSCAN4 and KDM4E, two proteins with essential roles during early embryogenesis (PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:29618456). Heterologous expression in cultured embryonic stem cells mediates also transcription of HERVL retrotransposons and transcripts derived from ACRO1 and HSATII satellite repeats (PubMed:28459457). May activate expression of PITX1 (PubMed:17984056). May regulate microRNA (miRNA) expression (PubMed:24145033). Inappropriate expression can inhibit myogenesis and promote apoptosis (PubMed:26951377, PubMed:28935672, PubMed:29618456). {ECO:0000269|PubMed:17984056, ECO:0000269|PubMed:24145033, ECO:0000269|PubMed:26951377, ECO:0000269|PubMed:27378237, ECO:0000269|PubMed:28459454, ECO:0000269|PubMed:28459457, ECO:0000269|PubMed:28935672, ECO:0000269|PubMed:29572508, ECO:0000269|PubMed:29618456, ECO:0000269|PubMed:30315230, ECO:0000269|PubMed:30540931}.; FUNCTION: [Isoform 2]: Probably inactive as a transcriptional activator, due to the absence of the C-terminal region that is important for transcriptional activation. Can inhibit transcriptional activation mediated by isoform 1. Heterologous expression of isoform 2 has no deleterious effect on cell survival. {ECO:0000269|PubMed:29618456}. |
| 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 CIC-DUX4 |
| 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 CIC-DUX4 |
| 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 CIC-DUX4 |
| 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 CIC-DUX4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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