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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-EIF2AK2 (FusionGDB2 ID:14584) |
Fusion Gene Summary for CD63-EIF2AK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD63-EIF2AK2 | Fusion gene ID: 14584 | Hgene | Tgene | Gene symbol | CD63 | EIF2AK2 | Gene ID | 967 | 5610 |
| Gene name | CD63 molecule | eukaryotic translation initiation factor 2 alpha kinase 2 | |
| Synonyms | LAMP-3|ME491|MLA1|OMA81H|TSPAN30 | EIF2AK1|PKR|PPP1R83|PRKR | |
| Cytomap | 12q13.2 | 2p22.2 | |
| 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 | interferon-induced, double-stranded RNA-activated protein kinaseP1/eIF-2A protein kinasedouble stranded RNA activated protein kinaseeIF-2A protein kinase 2interferon-inducible elF2alpha kinasep68 kinaseprotein kinase Rprotein kinase, interferon-ind | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P08962 | P19525 | |
| Ensembl transtripts involved in fusion gene | ENST00000420846, ENST00000552067, ENST00000257857, ENST00000546939, ENST00000548160, ENST00000548898, ENST00000549117, ENST00000550776, ENST00000552692, ENST00000552754, | ENST00000233057, ENST00000395127, ENST00000405334, | |
| Fusion gene scores | * DoF score | 23 X 19 X 9=3933 | 41 X 5 X 15=3075 |
| # samples | 23 | 39 | |
| ** MAII score | log2(23/3933*10)=-4.09592441999854 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/3075*10)=-2.97904038136435 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CD63 [Title/Abstract] AND EIF2AK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CD63(56119232)-EIF2AK2(37342384), # 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 | EIF2AK2 | GO:0006468 | protein phosphorylation | 19189853 |
| Tgene | EIF2AK2 | GO:0017148 | negative regulation of translation | 12882984 |
| Tgene | EIF2AK2 | GO:0035455 | response to interferon-alpha | 19840259 |
| Tgene | EIF2AK2 | GO:0046777 | protein autophosphorylation | 22801494 |
| Tgene | EIF2AK2 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15121867 |
| 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 EIF2AK2 (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 | LUAD | TCGA-86-7954-01A | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
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Fusion Gene ORF analysis for CD63-EIF2AK2 |
| 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 | ENST00000420846 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000420846 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000420846 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000552067 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000552067 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000552067 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000257857 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000257857 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000257857 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000546939 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000546939 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000546939 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548160 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548160 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548160 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548898 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548898 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000548898 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000549117 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000549117 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000549117 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000550776 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000550776 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000550776 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552692 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552692 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552692 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552754 | ENST00000233057 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552754 | ENST00000395127 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000552754 | ENST00000405334 | CD63 | chr12 | 56119232 | - | EIF2AK2 | chr2 | 37342384 | - |
| 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-EIF2AK2 |
| 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-EIF2AK2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56119232/:37342384) - 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 | EIF2AK2 |
| 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: IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection (PubMed:18835251, PubMed:19507191, PubMed:19189853, PubMed:21123651, PubMed:21072047, PubMed:22948139, PubMed:23229543, PubMed:22381929). Inhibits viral replication via the integrated stress response (ISR): EIF2S1/eIF-2-alpha phosphorylation in response to viral infection converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, resulting to a shutdown of cellular and viral protein synthesis, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4 (PubMed:19189853, PubMed:21123651, PubMed:22948139, PubMed:23229543). Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1) (PubMed:11836380, PubMed:19189853, PubMed:20171114, PubMed:19840259, PubMed:21710204, PubMed:23115276, PubMed:23399035). Also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation: phosphorylates other substrates including p53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral protein US11 (PubMed:11836380, PubMed:22214662, PubMed:19229320). In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity and phosphorylates CDK1 at 'Tyr-4' upon DNA damage, facilitating its ubiquitination and proteosomal degradation (PubMed:20395957). Either as an adapter protein and/or via its kinase activity, can regulate various signaling pathways (p38 MAP kinase, NF-kappa-B and insulin signaling pathways) and transcription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved in the expression of genes encoding proinflammatory cytokines and IFNs (PubMed:22948139, PubMed:23084476, PubMed:23372823). Activates the NF-kappa-B pathway via interaction with IKBKB and TRAF family of proteins and activates the p38 MAP kinase pathway via interaction with MAP2K6 (PubMed:10848580, PubMed:15121867, PubMed:15229216). Can act as both a positive and negative regulator of the insulin signaling pathway (ISP) (PubMed:20685959). Negatively regulates ISP by inducing the inhibitory phosphorylation of insulin receptor substrate 1 (IRS1) at 'Ser-312' and positively regulates ISP via phosphorylation of PPP2R5A which activates FOXO1, which in turn up-regulates the expression of insulin receptor substrate 2 (IRS2) (PubMed:20685959). Can regulate NLRP3 inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 and NLRC4 inflammasomes (PubMed:22801494). Plays a role in the regulation of the cytoskeleton by binding to gelsolin (GSN), sequestering the protein in an inactive conformation away from actin (By similarity). {ECO:0000250|UniProtKB:Q03963, ECO:0000269|PubMed:10848580, ECO:0000269|PubMed:11836380, ECO:0000269|PubMed:15121867, ECO:0000269|PubMed:15229216, ECO:0000269|PubMed:18835251, ECO:0000269|PubMed:19189853, ECO:0000269|PubMed:19229320, ECO:0000269|PubMed:19507191, ECO:0000269|PubMed:19840259, ECO:0000269|PubMed:20171114, ECO:0000269|PubMed:20395957, ECO:0000269|PubMed:20685959, ECO:0000269|PubMed:21072047, ECO:0000269|PubMed:21123651, ECO:0000269|PubMed:21710204, ECO:0000269|PubMed:22214662, ECO:0000269|PubMed:22381929, ECO:0000269|PubMed:22801494, ECO:0000269|PubMed:22948139, ECO:0000269|PubMed:23084476, ECO:0000269|PubMed:23115276, ECO:0000269|PubMed:23229543, ECO:0000269|PubMed:23372823, ECO:0000269|PubMed:23399035, ECO:0000269|PubMed:32197074}. |
| 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-EIF2AK2 |
| 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-EIF2AK2 |
| 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-EIF2AK2 |
| 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-EIF2AK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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