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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:CD63-VPS35 (FusionGDB2 ID:14602) |
Fusion Gene Summary for CD63-VPS35 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD63-VPS35 | Fusion gene ID: 14602 | Hgene | Tgene | Gene symbol | CD63 | VPS35 | Gene ID | 967 | 55737 |
| Gene name | CD63 molecule | VPS35 retromer complex component | |
| Synonyms | LAMP-3|ME491|MLA1|OMA81H|TSPAN30 | MEM3|PARK17 | |
| Cytomap | 12q13.2 | 16q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspa | vacuolar protein sorting-associated protein 35hVPS35maternal-embryonic 3vacuolar protein sorting 35 homolog | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P08962 | Q7Z3J2 | |
| Ensembl transtripts involved in fusion gene | ENST00000257857, ENST00000420846, ENST00000546939, ENST00000548160, ENST00000548898, ENST00000549117, ENST00000550776, ENST00000552067, ENST00000552692, ENST00000552754, | ENST00000299138, ENST00000568642, | |
| Fusion gene scores | * DoF score | 23 X 19 X 9=3933 | 6 X 7 X 3=126 |
| # samples | 23 | 8 | |
| ** MAII score | log2(23/3933*10)=-4.09592441999854 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CD63 [Title/Abstract] AND VPS35 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CD63(56119351)-VPS35(46695709), # 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 | CD63 | GO:0034613 | cellular protein localization | 15647390 |
| Hgene | CD63 | GO:1901379 | regulation of potassium ion transmembrane transport | 15647390 |
| Tgene | VPS35 | GO:0010628 | positive regulation of gene expression | 26618722 |
| Tgene | VPS35 | GO:0032268 | regulation of cellular protein metabolic process | 26618722 |
| Tgene | VPS35 | GO:0045056 | transcytosis | 15247922 |
| Tgene | VPS35 | GO:0060161 | positive regulation of dopamine receptor signaling pathway | 27460146 |
| Tgene | VPS35 | GO:0099639 | neurotransmitter receptor transport, endosome to plasma membrane | 27460146 |
| Fusion gene breakpoints across CD63 (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 VPS35 (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 | AA083694 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
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Fusion Gene ORF analysis for CD63-VPS35 |
| 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-3CDS | ENST00000257857 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000420846 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000546939 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000548160 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000548898 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000549117 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000550776 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000552067 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000552692 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-3CDS | ENST00000552754 | ENST00000299138 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000257857 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000420846 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000546939 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000548160 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000548898 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000549117 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000550776 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000552067 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000552692 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| intron-intron | ENST00000552754 | ENST00000568642 | CD63 | chr12 | 56119351 | + | VPS35 | chr16 | 46695709 | - |
| 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 CD63-VPS35 |
| 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 CD63-VPS35 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56119351/:46695709) - 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 |
| CD63 | VPS35 |
| FUNCTION: Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli. {ECO:0000269|PubMed:16917503, ECO:0000269|PubMed:21803846, ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:23632027, ECO:0000269|PubMed:24635319}. | FUNCTION: Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association with the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947). {ECO:0000269|PubMed:25355947, ECO:0000269|PubMed:28892079}.; FUNCTION: (Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface. {ECO:0000269|PubMed:28892079}. |
| 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 CD63-VPS35 |
| 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 CD63-VPS35 |
| 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 CD63-VPS35 |
| 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 CD63-VPS35 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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