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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:CACNA1I-FBXW5 (FusionGDB2 ID:12346) |
Fusion Gene Summary for CACNA1I-FBXW5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNA1I-FBXW5 | Fusion gene ID: 12346 | Hgene | Tgene | Gene symbol | CACNA1I | FBXW5 | Gene ID | 150350 | 54461 |
| Gene name | ENTH domain containing 1 | F-box and WD repeat domain containing 5 | |
| Synonyms | CACNA1I|dJ370M22.3 | Fbw5 | |
| Cytomap | 22q13.1 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ENTH domain-containing protein 1dJ370M22.3 (EPSIN 2B)epsin-2B | F-box/WD repeat-containing protein 5F-box and WD-40 domain-containing protein 5WD repeat-containing F-box protein FBW5 | |
| Modification date | 20200313 | 20200320 | |
| UniProtAcc | Q9P0X4 | Q969U6 | |
| Ensembl transtripts involved in fusion gene | ENST00000336649, ENST00000400164, ENST00000401624, ENST00000402142, ENST00000404898, ENST00000407673, ENST00000471970, | ENST00000483559, ENST00000325285, | |
| Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 4 X 5 X 3=60 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CACNA1I [Title/Abstract] AND FBXW5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CACNA1I(40078666)-FBXW5(139835623), # samples:4 | ||
| Anticipated loss of major functional domain due to fusion event. | CACNA1I-FBXW5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CACNA1I-FBXW5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CACNA1I-FBXW5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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 |
| Tgene | FBXW5 | GO:0016567 | protein ubiquitination | 18381890|21725316 |
| Tgene | FBXW5 | GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 21725316 |
| Tgene | FBXW5 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 18381890 |
| Fusion gene breakpoints across CACNA1I (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 FBXW5 (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 |
| ChimerDB4 | BLCA | TCGA-XF-AAMY-01A | CACNA1I | chr22 | 40078666 | - | FBXW5 | chr9 | 139835623 | - |
| ChimerDB4 | BLCA | TCGA-XF-AAMY-01A | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| ChimerDB4 | BLCA | TCGA-XF-AAMY | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
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Fusion Gene ORF analysis for CACNA1I-FBXW5 |
| 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 | ENST00000336649 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 5CDS-5UTR | ENST00000400164 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 5CDS-5UTR | ENST00000401624 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 5CDS-5UTR | ENST00000402142 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 5CDS-5UTR | ENST00000404898 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 5CDS-5UTR | ENST00000407673 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000336649 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000400164 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000401624 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000402142 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000404898 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| Frame-shift | ENST00000407673 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| intron-3CDS | ENST00000471970 | ENST00000325285 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| intron-5UTR | ENST00000471970 | ENST00000483559 | CACNA1I | chr22 | 40078666 | + | FBXW5 | chr9 | 139835623 | - |
| 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 CACNA1I-FBXW5 |
| 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 CACNA1I-FBXW5 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40078666/:139835623) - 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 |
| CACNA1I | FBXW5 |
| FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity). {ECO:0000250}. | FUNCTION: Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway. {ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:19232515, ECO:0000269|PubMed:21725316}. |
| 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 CACNA1I-FBXW5 |
| 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 CACNA1I-FBXW5 |
| 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 CACNA1I-FBXW5 |
| 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 CACNA1I-FBXW5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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