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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: 11380

FusionGeneSummary for EIF5_NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF5_NOTCH2
Fusion gene ID: 11380
HgeneTgene
Gene symbol

EIF5

NOTCH2

Gene ID

1983

4853

Gene nameeukaryotic translation initiation factor 5notch 2
SynonymsEIF-5|EIF-5AAGS2|HJCYS|hN2
Cytomap

14q32.32

1p12

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 5neurogenic locus notch homolog protein 2Notch homolog 2
Modification date2018052220180519
UniProtAcc

P55010

Q04721

Ensembl transtripts involved in fusion geneENST00000216554, ENST00000558506, 
ENST00000560200, ENST00000392715, 
ENST00000256646, ENST00000602566, 
ENST00000493703, 
Fusion gene scores* DoF score3 X 3 X 3=279 X 7 X 3=189
# samples 39
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF5 [Title/Abstract] AND NOTCH2 [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
HgeneEIF5

GO:0006446

regulation of translational initiation

22156057

TgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

TgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509


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
TCGARVKIRPTCGA-MH-A855-01AEIF5chr14

103800934

+NOTCH2chr1

120465069

-
* 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
5UTR-3CDSENST00000216554ENST00000256646EIF5chr14

103800934

+NOTCH2chr1

120465069

-
5UTR-intronENST00000216554ENST00000602566EIF5chr14

103800934

+NOTCH2chr1

120465069

-
5UTR-intronENST00000216554ENST00000493703EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-3CDSENST00000558506ENST00000256646EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-intronENST00000558506ENST00000602566EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-intronENST00000558506ENST00000493703EIF5chr14

103800934

+NOTCH2chr1

120465069

-
3UTR-3CDSENST00000560200ENST00000256646EIF5chr14

103800934

+NOTCH2chr1

120465069

-
3UTR-intronENST00000560200ENST00000602566EIF5chr14

103800934

+NOTCH2chr1

120465069

-
3UTR-intronENST00000560200ENST00000493703EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-3CDSENST00000392715ENST00000256646EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-intronENST00000392715ENST00000602566EIF5chr14

103800934

+NOTCH2chr1

120465069

-
intron-intronENST00000392715ENST00000493703EIF5chr14

103800934

+NOTCH2chr1

120465069

-

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FusionProtFeatures for EIF5_NOTCH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF5

P55010

NOTCH2

Q04721

Catalyzes the hydrolysis of GTP bound to the 40Sribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) withthe subsequent joining of a 60S ribosomal subunit resulting in therelease of eIF-2 and the guanine nucleotide. The subsequentjoining of a 60S ribosomal subunit results in the formation of afunctional 80S initiation complex (80S.mRNA.Met-tRNA[F]). Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-renewal of liver cancer cells (PubMed:25985737).{ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985,ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737,ECO:0000269|PubMed:29149593}.

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 EIF5_NOTCH2


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 EIF5_NOTCH2


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
EIF5EIF3G, EIF2S2, DDA1, APP, EIF3B, RPL29, FN1, LMNA, PUM1, NRGN, CAPNS1, DFFA, EIF4H, ALDH7A1, FERMT2, G6PD, GNAI3, PFAS, STK24, VCL, GLA, HNRNPK, HSPA9, ISOC1, MAT2B, PAFAH1B1, PCYT2, PDHB, SCLY, SNRPD1, TBCB, TUBB, UBFD1, YWHAE, YWHAH, YWHAQ, YWHAZ, HUWE1, DUSP12, RPS6, SLC30A4, HSPB1, BZW2, CHD4, CHD5, EIF1, EIF2S1, EIF3I, BZW1, EIF2B2, SRSF2, NTRK1, XPO1, CDH1, CLPB, TXNIPNOTCH2CNTN1, GSK3B, JAG1, DLL1, RBPJ, MAML1, JAG2, CRKL, MYOC, SPEN, NDUFV2, NDUFV1, SEC24C, PCMT1, PSMB1, TJP1, SIN3A, PLAUR, NOTCH1, SMAD1, EGFL7, ANKRD28, LATS2, ASB14, ANKRD44, RABGGTB, ZFP41, EEF2, MLLT4, ATP2A2, CDC42, MSN, RDX, PDIA6, CST6, EPSTI1, FAM84B, IL13RA2, IL24, ITIH5, KLK5, MTA3, PSMC3IP, ST14, TMEM17, FBXL17, CDH1, VASN, LRRIQ1, AGRP


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 EIF5_NOTCH2


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 EIF5_NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF5C0036341Schizophrenia1CTD_human
TgeneNOTCH2C0917715Hajdu-Cheney Syndrome2CTD_human;ORPHANET
TgeneNOTCH2C0004114Astrocytoma1CTD_human
TgeneNOTCH2C0007873Uterine Cervical Neoplasm1CTD_human
TgeneNOTCH2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneNOTCH2C0017636Glioblastoma1CTD_human
TgeneNOTCH2C0024121Lung Neoplasms1CTD_human
TgeneNOTCH2C0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneNOTCH2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH2C1458155Mammary Neoplasms1CTD_human
TgeneNOTCH2C1857761Alagille Syndrome 21ORPHANET;UNIPROT