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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:COL4A3BP-CCL20 (FusionGDB2 ID:18364) |
Fusion Gene Summary for COL4A3BP-CCL20 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL4A3BP-CCL20 | Fusion gene ID: 18364 | Hgene | Tgene | Gene symbol | COL4A3BP | CCL20 | Gene ID | 10087 | 6364 |
| Gene name | ceramide transporter 1 | C-C motif chemokine ligand 20 | |
| Synonyms | CERT|CERTL|COL4A3BP|GPBP|MRD34|STARD11 | CKb4|Exodus|LARC|MIP-3-alpha|MIP-3a|MIP3A|SCYA20|ST38 | |
| Cytomap | 5q13.3 | 2q36.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ceramide transfer proteinStAR-related lipid transfer (START) domain containing 11ceramide transportercollagen type IV alpha 3 binding proteincollagen, type IV, alpha 3 (Goodpasture antigen) binding proteinlipid-transfer protein CERTL | C-C motif chemokine 20CC chemokine LARCbeta chemokine exodus-1chemokine (C-C motif) ligand 20liver and activation-regulated chemokinemacrophage inflammatory protein 3 alphasmall inducible cytokine subfamily A (Cys-Cys), member 20small-inducible cyt | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | . | P78556 | |
| Ensembl transtripts involved in fusion gene | ENST00000261415, ENST00000380494, ENST00000405807, ENST00000508692, | ENST00000358813, ENST00000409189, ENST00000473642, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 2 X 2 X 1=4 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: COL4A3BP [Title/Abstract] AND CCL20 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | COL4A3BP(74706520)-CCL20(228682011), # 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 |
| Hgene | COL4A3BP | GO:0120012 | intermembrane sphingolipid transfer | 18184806 |
| Tgene | CCL20 | GO:0006935 | chemotaxis | 20068036 |
| Tgene | CCL20 | GO:0035584 | calcium-mediated signaling using intracellular calcium source | 25122636 |
| Tgene | CCL20 | GO:0060326 | cell chemotaxis | 23765988 |
| Tgene | CCL20 | GO:2000406 | positive regulation of T cell migration | 23620790 |
| Fusion gene breakpoints across COL4A3BP (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 CCL20 (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 | BG231056 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
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Fusion Gene ORF analysis for COL4A3BP-CCL20 |
| 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 | ENST00000261415 | ENST00000358813 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000261415 | ENST00000409189 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000261415 | ENST00000473642 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000380494 | ENST00000358813 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000380494 | ENST00000409189 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000380494 | ENST00000473642 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000405807 | ENST00000358813 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000405807 | ENST00000409189 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000405807 | ENST00000473642 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000508692 | ENST00000358813 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000508692 | ENST00000409189 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| intron-3UTR | ENST00000508692 | ENST00000473642 | COL4A3BP | chr5 | 74706520 | - | CCL20 | chr2 | 228682011 | - |
| 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 COL4A3BP-CCL20 |
| 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 COL4A3BP-CCL20 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74706520/:228682011) - 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 |
| . | CCL20 |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:11352563, PubMed:11035086, PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases (PubMed:21376174). CCL20 acts as a chemotactic factor that attracts lymphocytes and, slightly, neutrophils, but not monocytes (PubMed:9038201, PubMed:11352563). Involved in the recruitment of both the proinflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for optimal migration of thymic natural regulatory T cells (nTregs) and DN1 early thymocyte progenitor cells (By similarity). C-terminal processed forms have been shown to be equally chemotactically active for leukocytes (PubMed:11035086). Positively regulates sperm motility and chemotaxis via its binding to CCR6 which triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:23765988, PubMed:25122636). Inhibits proliferation of myeloid progenitors in colony formation assays (PubMed:9129037). May be involved in formation and function of the mucosal lymphoid tissues by attracting lymphocytes and dendritic cells towards epithelial cells (By similarity). Possesses antibacterial activity towards E.coli ATCC 25922 and S.aureus ATCC 29213 (PubMed:12149255). {ECO:0000250|UniProtKB:O89093, ECO:0000269|PubMed:11035086, ECO:0000269|PubMed:11352563, ECO:0000269|PubMed:12149255, ECO:0000269|PubMed:20068036, ECO:0000269|PubMed:23765988, ECO:0000269|PubMed:25122636, ECO:0000269|PubMed:9038201, ECO:0000269|PubMed:9129037, ECO:0000303|PubMed:21376174}. |
| 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 COL4A3BP-CCL20 |
| 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 COL4A3BP-CCL20 |
| 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 COL4A3BP-CCL20 |
| 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 COL4A3BP-CCL20 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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