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Fusion gene ID: 27552 |
FusionGeneSummary for PLEC_EIF2AK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLEC_EIF2AK2 | Fusion gene ID: 27552 | Hgene | Tgene | Gene symbol | PLEC | EIF2AK2 | Gene ID | 5339 | 5610 |
| Gene name | plectin | eukaryotic translation initiation factor 2 alpha kinase 2 | |
| Synonyms | EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTN | EIF2AK1|PKR|PPP1R83|PRKR | |
| Cytomap | 8q24.3 | 2p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | plectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa | 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 | 20180523 | 20180523 | |
| UniProtAcc | Q15149 | P19525 | |
| Ensembl transtripts involved in fusion gene | ENST00000345136, ENST00000357649, ENST00000354589, ENST00000398774, ENST00000322810, ENST00000354958, ENST00000356346, ENST00000436759, ENST00000527096, | ENST00000233057, ENST00000395127, ENST00000405334, | |
| Fusion gene scores | * DoF score | 14 X 12 X 7=1176 | 34 X 1 X 15=510 |
| # samples | 14 | 34 | |
| ** MAII score | log2(14/1176*10)=-3.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(34/510*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLEC [Title/Abstract] AND EIF2AK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | PLEC | GO:0031581 | hemidesmosome assembly | 12482924 |
| 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 information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUAD | TCGA-97-7552-01A | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000345136 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000345136 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000345136 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000357649 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000357649 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000357649 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354589 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354589 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354589 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000398774 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000398774 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000398774 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000322810 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000322810 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000322810 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354958 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354958 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000354958 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000356346 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000356346 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000356346 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000436759 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000436759 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| 5CDS-intron | ENST00000436759 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000527096 | ENST00000233057 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000527096 | ENST00000395127 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
| intron-intron | ENST00000527096 | ENST00000405334 | PLEC | chr8 | 144989321 | - | EIF2AK2 | chr2 | 37342384 | - |
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FusionProtFeatures for PLEC_EIF2AK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLEC | EIF2AK2 |
| IFN-induced dsRNA-dependent serine/threonine-proteinkinase which plays a key role in the innate immune response toviral infection and is also involved in the regulation of signaltransduction, apoptosis, cell proliferation and differentiation.Exerts its antiviral activity on a wide range of DNA and RNAviruses including hepatitis C virus (HCV), hepatitis B virus(HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1).Inhibits viral replication via phosphorylation of the alphasubunit of eukaryotic initiation factor 2 (EIF2S1), thisphosphorylation impairs the recycling of EIF2S1 between successiverounds of initiation leading to inhibition of translation whicheventually results in shutdown of cellular and viral proteinsynthesis. Also phosphorylates other substrates includingp53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral proteinUS11. In addition to serine/threonine-protein kinase activity,also has tyrosine-protein kinase activity and phosphorylates CDK1at 'Tyr-4' upon DNA damage, facilitating its ubiquitination andproteosomal degradation. Either as an adapter protein and/or viaits kinase activity, can regulate various signaling pathways (p38MAP kinase, NF-kappa-B and insulin signaling pathways) andtranscription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved inthe expression of genes encoding proinflammatory cytokines andIFNs. Activates the NF-kappa-B pathway via interaction with IKBKBand TRAF family of proteins and activates the p38 MAP kinasepathway via interaction with MAP2K6. Can act as both a positiveand negative regulator of the insulin signaling pathway (ISP).Negatively regulates ISP by inducing the inhibitoryphosphorylation of insulin receptor substrate 1 (IRS1) at 'Ser-312' and positively regulates ISP via phosphorylation of PPP2R5Awhich activates FOXO1, which in turn up-regulates the expressionof insulin receptor substrate 2 (IRS2). Can regulate NLRP3inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 andNLRC4 inflammasomes. Can trigger apoptosis via FADD-mediatedactivation of CASP8. Plays a role in the regulation of thecytoskeleton by binding to gelsolin (GSN), sequestering theprotein in an inactive conformation away from actin.{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}. |
| 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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FusionGeneSequence for PLEC_EIF2AK2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PLEC_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 |
| PLEC | GRB2, VIM, MAP2, SPTA1, SPTAN1, USP20, PAN2, KCTD13, PLEKHA5, SRRM2, ETS1, TJP1, SIRT7, SP1, ISG15, CUL3, CDK2, LRRK2, ITGB4, JUP, NOMO1, MTDH, TRA2A, HNRNPL, GNAI2, SLTM, UQCRC1, ESR1, TSGA10, FMNL1, VCP, VCAM1, FN1, NOS2, SMAD9, ITGA4, PHB, BAG3, GBF1, NCAPH, CDK9, CCAR2, NCAPG, RABEP1, SMC2, SMC4, RAPGEF2, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, BMI1, SOCS6, CCDC68, DDX19B, TFDP3, GFOD1, WHSC1, C17orf85, DDX17, NUP50, QARS, SFN, PTEN, BUB1, CAPZA2, FLNA, MYH9, PPP1CB, NIPSNAP1, IQGAP1, PDLIM7, SYNPO, MAPRE1, PHF8, LIMA1, ANLN, MYO19, MYO18A, GAN, SKI, MCM2, SNW1, CDC5L, ATOH1, CDH1, C6orf141, DFNA5, NEFM, RAPGEF5, MLF1, TKT, UBC, AAK1, PPIP5K2, SEC24B, CCDC88A, EYA4, LUZP1, UBE2D2, NUP88, URGCP, DVL3, QSER1, ARFGAP3, AHNAK, WNK1, CYLD, DLST, PDHA1, CCND2, HEY1, BRCA1, TES | EIF2AK2 | DBNL, FANCC, PRKRIP1, STAT1, PPP1CA, PRKRA, TP53, ILF3, METAP2, DNAJC3, PPP2R5A, ILF2, EIF2AK2, TARBP2, MAP3K5, CHUK, IKBKB, HIST2H2AC, PDGFRB, STAT3, EIF2S1, DHX58, CCNA2, DHX9, DICER1, EDC4, STAU2, ZNF346, STAU1, CCDC124, CDK3, EBNA1BP2, FARSB, FTSJ3, GLTSCR2, IFRD1, NOC3L, PPP1CC, DHX30, EIF6, FARSA, GNL3, GTPBP4, HIST1H1C, HNRNPC, HNRNPCL1, KCTD17, LYAR, MOV10, NOP2, PABPC4, PURA, SSB, TOLLIP, TOP1, XRN2, MAVS, HDGF, ELAVL1, MAP3K7, ISG15, CUL3, CAND1, ATP6V1F, JAK1, TYK2, HSP90AA1, IL7R, NPM1, EIF2A, PTGES3, HECW2, IGF2BP3, IGF2BP2, EGFR, TRAF5, TRAF6, TRAF2, CYP1A1, NTRK1, IFI16, SCARB2, RPL10, ELMSAN1, CDCA5, CHMP4B, MACROD1, MCM2, CDC37, PRKRIR, HIST1H2AB, MECP2, GPX7, IQCF1, PTEN, RPL6, RPLP0, RPS2, RPS3A, LMNA, COX15, DLD, DLST |
| - 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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RelatedDrugs for PLEC_EIF2AK2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PLEC_EIF2AK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLEC | C3150989 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PLEC | C0432317 | Epidermolysis bullosa simplex, Ogna type | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | EIF2AK2 | C0021400 | Influenza | 1 | CTD_human |
| Tgene | EIF2AK2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | EIF2AK2 | C0038220 | Status Epilepticus | 1 | CTD_human |
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