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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: 5451

FusionGeneSummary for CAPN1_EIF2AK2

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPN1_EIF2AK2
Fusion gene ID: 5451
HgeneTgene
Gene symbol

CAPN1

EIF2AK2

Gene ID

823

5610

Gene namecalpain 1eukaryotic translation initiation factor 2 alpha kinase 2
SynonymsCANP|CANP1|CANPL1|SPG76|muCANP|muCLEIF2AK1|PKR|PPP1R83|PRKR
Cytomap

11q13.1

2p22.2

Type of geneprotein-codingprotein-coding
Descriptioncalpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing proteininterferon-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 date2018052320180523
UniProtAcc

P07384

P19525

Ensembl transtripts involved in fusion geneENST00000533820, ENST00000533129, 
ENST00000524773, ENST00000279247, 
ENST00000527469, ENST00000527323, 
ENST00000233057, ENST00000395127, 
ENST00000405334, 
Fusion gene scores* DoF score7 X 7 X 6=29434 X 1 X 15=510
# samples 734
** MAII scorelog2(7/294*10)=-2.0703893278914
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: CAPN1 [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
HgeneCAPN1

GO:0006508

proteolysis

2400579|2407243|16411745|21531719

HgeneCAPN1

GO:0050790

regulation of catalytic activity

8954105|9271093

HgeneCAPN1

GO:0097264

self proteolysis

8769305|8954105

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
TCGARVLUSCTCGA-66-2737-01ACAPN1chr11

64979476

+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
5CDS-intronENST00000533820ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000533820ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000533820ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000533129ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000533129ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000533129ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000524773ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000524773ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000524773ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000279247ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000279247ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
5CDS-intronENST00000279247ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527469ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527469ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527469ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527323ENST00000233057CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527323ENST00000395127CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-
intron-intronENST00000527323ENST00000405334CAPN1chr11

64979476

+EIF2AK2chr2

37342384

-

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FusionProtFeatures for CAPN1_EIF2AK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAPN1

P07384

EIF2AK2

P19525

Calcium-regulated non-lysosomal thiol-protease whichcatalyzes limited proteolysis of substrates involved incytoskeletal remodeling and signal transduction.{ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:2400579}. 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 CAPN1_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 CAPN1_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
CAPN1PSEN2, CAST, NFKBIA, FANCA, FANCC, PALB2, FANCG, GAS2, CLEC4G, RAD21, ARRB2, SIRT7, HIF1A, ECT2, FN1, VCAM1, ITGA4, PRMT5, SH3BGR, FHL2, TINAGL1, CREG1, ECHS1, NDUFB7, SLIT3, GPT, CTSC, PTGDS, AES, NFE2L1, ACTC1, MYBPC3, ACTN2, DES, COL1A1, VIM, SPTAN1, BAG3, STAT3, HNRNPD, ASS1, BZW2, BCCIP, CNDP2, EIF4E, EIF6, G6PD, GNS, LDHAL6B, PEPD, PFAS, SLC9A3R1, SMEK2, YWHAQ, CASP7, EEF2, GBP2, GINS2, GINS3, GLA, GLS, HSPA9, MVD, RAP1GDS1, RPS6KA1, TP53, NMT1, ATG5, LGALS3, KNG1, FNTB, CAPNS2, ATP6V1A, GSTO1, MAN2A1, EIF2A, HNRNPR, NIT1, SKIV2L2, SYNCRIP, NTRK1, CEP164, KATNA1, CAPNS1, COG1, POLA2, ANKRD17, CARS2, F2R, GRIN2B, FBXL12, MCM2, CD99L2, TRIP12, CD109, CAPN8, CAPN2, NEFM, RP9, NES, KTN1, FNTA, INA, TBC1D22B, ZIC1EIF2AK2DBNL, 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 CAPN1_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 CAPN1_EIF2AK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAPN1C0025202melanoma1CTD_human
HgeneCAPN1C0029134Optic Neuritis1CTD_human
TgeneEIF2AK2C0021400Influenza1CTD_human
TgeneEIF2AK2C0033578Prostatic Neoplasms1CTD_human
TgeneEIF2AK2C0038220Status Epilepticus1CTD_human