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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:CHCHD4-CAV1 (FusionGDB2 ID:16251) |
Fusion Gene Summary for CHCHD4-CAV1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHCHD4-CAV1 | Fusion gene ID: 16251 | Hgene | Tgene | Gene symbol | CHCHD4 | CAV1 | Gene ID | 131474 | 857 |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 4 | caveolin 1 | |
| Synonyms | MIA40|TIMM40 | BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21 | |
| Cytomap | 3p25.1 | 7q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial intermembrane space import and assembly protein 40coiled-coil-helix-coiled-coil-helix domain-containing protein 4translocase of inner mitochondrial membrane 40 homolog | caveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32 | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q8N4Q1 | Q03135 | |
| Ensembl transtripts involved in fusion gene | ENST00000295767, ENST00000396914, | ENST00000341049, ENST00000393467, ENST00000405348, ENST00000393468, ENST00000393470, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 11 X 9 X 7=693 |
| # samples | 2 | 14 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(14/693*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHCHD4 [Title/Abstract] AND CAV1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CHCHD4(14153716)-CAV1(116200417), # samples:1 | ||
| 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 | CAV1 | GO:0009617 | response to bacterium | 24625804 |
| Tgene | CAV1 | GO:0010875 | positive regulation of cholesterol efflux | 24576892 |
| Tgene | CAV1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 25893292 |
| Tgene | CAV1 | GO:0031295 | T cell costimulation | 17287217 |
| Tgene | CAV1 | GO:0031623 | receptor internalization | 25893292 |
| Tgene | CAV1 | GO:0032091 | negative regulation of protein binding | 16890161 |
| Tgene | CAV1 | GO:0032570 | response to progesterone | 12388746 |
| Tgene | CAV1 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 18081315 |
| Tgene | CAV1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18081315 |
| Tgene | CAV1 | GO:0043627 | response to estrogen | 12388746 |
| Tgene | CAV1 | GO:0051480 | regulation of cytosolic calcium ion concentration | 19052258 |
| Tgene | CAV1 | GO:0072584 | caveolin-mediated endocytosis | 19931615 |
| Tgene | CAV1 | GO:1900027 | regulation of ruffle assembly | 24625804 |
| Tgene | CAV1 | GO:2000535 | regulation of entry of bacterium into host cell | 24625804 |
| Fusion gene breakpoints across CHCHD4 (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 CAV1 (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 |
| ChiTaRS5.0 | N/A | BF476043 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
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Fusion Gene ORF analysis for CHCHD4-CAV1 |
| 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 | ENST00000295767 | ENST00000341049 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-3UTR | ENST00000295767 | ENST00000393467 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-3UTR | ENST00000295767 | ENST00000405348 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-3UTR | ENST00000396914 | ENST00000341049 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-3UTR | ENST00000396914 | ENST00000393467 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-3UTR | ENST00000396914 | ENST00000405348 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-intron | ENST00000295767 | ENST00000393468 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-intron | ENST00000295767 | ENST00000393470 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-intron | ENST00000396914 | ENST00000393468 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| intron-intron | ENST00000396914 | ENST00000393470 | CHCHD4 | chr3 | 14153716 | + | CAV1 | chr7 | 116200417 | - |
| 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 CHCHD4-CAV1 |
| 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 CHCHD4-CAV1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:14153716/:116200417) - 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 |
| CHCHD4 | CAV1 |
| FUNCTION: Central component of a redox-sensitive mitochondrial intermembrane space import machinery which is required for the biogenesis of respiratory chain complexes (PubMed:26004228). Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19, MICU1 and COA7 (PubMed:16185709, PubMed:26387864, PubMed:19182799, PubMed:21059946, PubMed:23186364, PubMed:23676665, PubMed:30885959). Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Required for the import of COA7 in the IMS (PubMed:30885959). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS (PubMed:16185709, PubMed:19182799, PubMed:21059946, PubMed:23676665). Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system (PubMed:23186364). Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake (PubMed:26387864). {ECO:0000269|PubMed:16185709, ECO:0000269|PubMed:19182799, ECO:0000269|PubMed:21059946, ECO:0000269|PubMed:23186364, ECO:0000269|PubMed:23676665, ECO:0000269|PubMed:26004228, ECO:0000269|PubMed:26387864, ECO:0000269|PubMed:30885959}. | FUNCTION: May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). {ECO:0000250|UniProtKB:P49817, ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}. |
| 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 CHCHD4-CAV1 |
| 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 CHCHD4-CAV1 |
| 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 CHCHD4-CAV1 |
| 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 CHCHD4-CAV1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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