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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6219

FusionGeneSummary for CD63_EIF2AK2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD63_EIF2AK2
Fusion gene ID: 6219
HgeneTgene
Gene symbol

CD63

EIF2AK2

Gene ID

967

5610

Gene nameCD63 moleculeeukaryotic translation initiation factor 2 alpha kinase 2
SynonymsLAMP-3|ME491|MLA1|OMA81H|TSPAN30EIF2AK1|PKR|PPP1R83|PRKR
Cytomap

12q13.2

2p22.2

Type of geneprotein-codingprotein-coding
DescriptionCD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspainterferon-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 date2018052720180523
UniProtAcc

P08962

P19525

Ensembl transtripts involved in fusion geneENST00000548898, ENST00000552067, 
ENST00000420846, ENST00000548160, 
ENST00000546939, ENST00000552692, 
ENST00000549117, ENST00000257857, 
ENST00000552754, ENST00000550776, 
ENST00000233057, ENST00000395127, 
ENST00000405334, 
Fusion gene scores* DoF score14 X 12 X 8=134434 X 1 X 15=510
# samples 1534
** MAII scorelog2(15/1344*10)=-3.16349873228288
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: CD63 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCD63

GO:0034613

cellular protein localization

15647390

HgeneCD63

GO:1901379

regulation of potassium ion transmembrane transport

15647390

TgeneEIF2AK2

GO:0006468

protein phosphorylation

19189853

TgeneEIF2AK2

GO:0017148

negative regulation of translation

12882984

TgeneEIF2AK2

GO:0035455

response to interferon-alpha

19840259

TgeneEIF2AK2

GO:0046777

protein autophosphorylation

22801494

TgeneEIF2AK2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

15121867


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-86-7954-01ACD63chr12

56119232

-EIF2AK2chr2

37342384

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000548898ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000548898ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000548898ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000552067ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000552067ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000552067ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000420846ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000420846ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
5CDS-intronENST00000420846ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000548160ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000548160ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000548160ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000546939ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000546939ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000546939ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552692ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552692ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552692ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000549117ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000549117ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000549117ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000257857ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000257857ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000257857ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552754ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552754ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000552754ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000550776ENST00000233057CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000550776ENST00000395127CD63chr12

56119232

-EIF2AK2chr2

37342384

-
intron-intronENST00000550776ENST00000405334CD63chr12

56119232

-EIF2AK2chr2

37342384

-

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FusionProtFeatures for CD63_EIF2AK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD63

P08962

EIF2AK2

P19525

Functions as cell surface receptor for TIMP1 and plays arole in the activation of cellular signaling cascades. Plays arole in the activation of ITGB1 and integrin signaling, leading tothe activation of AKT, FAK/PTK2 and MAP kinases. Promotes cellsurvival, reorganization of the actin cytoskeleton, cell adhesion,spreading and migration, via its role in the activation of AKT andFAK/PTK2. Plays a role in VEGFA signaling via its role inregulating the internalization of KDR/VEGFR2. Plays a role inintracellular vesicular transport processes, and is required fornormal trafficking of the PMEL luminal domain that is essentialfor the development and maturation of melanocytes. Plays a role inthe adhesion of leukocytes onto endothelial cells via its role inthe regulation of SELP trafficking. May play a role in mast celldegranulation in response to Ms4a2/FceRI stimulation, but not inmast 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}. 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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CD63_EIF2AK2


check button 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 CD63_EIF2AK2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CD63KIT, CD9, PTGFRN, ITGB1, CD82, HLA-DRA, HLA-DMB, HLA-DOB, SRF, CD81, RNF13, ATP6V1B1, VKORC1, SDC1, SDCBP, LGALS3, TSPAN3, LGALS8, LGALS9, FAM134C, TSPAN2EIF2AK2DBNL, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CD63_EIF2AK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CD63_EIF2AK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD63C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCD63C0023904Liver Neoplasms, Experimental1CTD_human
TgeneEIF2AK2C0021400Influenza1CTD_human
TgeneEIF2AK2C0033578Prostatic Neoplasms1CTD_human
TgeneEIF2AK2C0038220Status Epilepticus1CTD_human