FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:EIF5-NOTCH2 (FusionGDB2 ID:26049)

Fusion Gene Summary for EIF5-NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF5-NOTCH2
Fusion gene ID: 26049
HgeneTgene
Gene symbol

EIF5

NOTCH2

Gene ID

1983

4853

Gene nameeukaryotic translation initiation factor 5notch receptor 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 2notch 2
Modification date2020031320200329
UniProtAcc.

P0DPK3

Ensembl transtripts involved in fusion geneENST00000216554, ENST00000558506, 
ENST00000560200, ENST00000392715, 
ENST00000256646, ENST00000602566, 
ENST00000493703, 
Fusion gene scores* DoF score5 X 5 X 3=7513 X 10 X 6=780
# samples 514
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/780*10)=-2.47804729680464
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]

Most frequent breakpointEIF5(103800934)-NOTCH2(120465069), # samples:3
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)

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:0010838

positive regulation of keratinocyte proliferation

18469519

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

TgeneNOTCH2

GO:2000249

regulation of actin cytoskeleton reorganization

18469519


check buttonFusion gene breakpoints across EIF5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NOTCH2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRPTCGA-MH-A855-01AEIF5chr14

103800934

+NOTCH2chr1

120465069

-
ChimerDB4KIRPTCGA-MH-A855EIF5chr14

103800934

+NOTCH2chr1

120465069

-
ChimerDB4KIRPTCGA-MH-A855-01AEIF5chr14

103800934

-NOTCH2chr1

120465069

-


Top

Fusion Gene ORF analysis for EIF5-NOTCH2

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for EIF5-NOTCH2


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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.

Top

Fusion Protein Features for EIF5-NOTCH2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NOTCH2

P0DPK3

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955). {ECO:0000269|PubMed:29561261, ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.

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


Top

Fusion Gene Sequence for EIF5-NOTCH2


check button 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.

Top

Fusion Gene PPI Analysis 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


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


Top

Related Drugs for EIF5-NOTCH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for EIF5-NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF5C0036341Schizophrenia1CTD_human
TgeneNOTCH2C1857761Alagille Syndrome 25CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneNOTCH2C0917715Hajdu-Cheney Syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNOTCH2C0004114Astrocytoma1CTD_human
TgeneNOTCH2C0006142Malignant neoplasm of breast1CGI;CTD_human
TgeneNOTCH2C0007114Malignant neoplasm of skin1CTD_human
TgeneNOTCH2C0007137Squamous cell carcinoma1CTD_human
TgeneNOTCH2C0007873Uterine Cervical Neoplasm1CTD_human
TgeneNOTCH2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneNOTCH2C0017636Glioblastoma1CTD_human
TgeneNOTCH2C0024121Lung Neoplasms1CTD_human
TgeneNOTCH2C0024623Malignant neoplasm of stomach1CTD_human
TgeneNOTCH2C0027626Neoplasm Invasiveness1CTD_human
TgeneNOTCH2C0037286Skin Neoplasms1CTD_human
TgeneNOTCH2C0038356Stomach Neoplasms1CTD_human
TgeneNOTCH2C0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneNOTCH2C0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneNOTCH2C0242379Malignant neoplasm of lung1CTD_human
TgeneNOTCH2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH2C0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneNOTCH2C0280785Diffuse Astrocytoma1CTD_human
TgeneNOTCH2C0334579Anaplastic astrocytoma1CTD_human
TgeneNOTCH2C0334580Protoplasmic astrocytoma1CTD_human
TgeneNOTCH2C0334581Gemistocytic astrocytoma1CTD_human
TgeneNOTCH2C0334582Fibrillary Astrocytoma1CTD_human
TgeneNOTCH2C0334583Pilocytic Astrocytoma1CTD_human
TgeneNOTCH2C0334584Spongioblastoma1CTD_human
TgeneNOTCH2C0334588Giant Cell Glioblastoma1CTD_human
TgeneNOTCH2C0334596Medulloepithelioma1CTD_human
TgeneNOTCH2C0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneNOTCH2C0547065Mixed oligoastrocytoma1CTD_human
TgeneNOTCH2C0678222Breast Carcinoma1CGI;CTD_human
TgeneNOTCH2C0700367Ependymoblastoma1CTD_human
TgeneNOTCH2C0750935Cerebral Astrocytoma1CTD_human
TgeneNOTCH2C0750936Intracranial Astrocytoma1CTD_human
TgeneNOTCH2C0751675Cerebral Primitive Neuroectodermal Tumor1CTD_human
TgeneNOTCH2C1257931Mammary Neoplasms, Human1CTD_human
TgeneNOTCH2C1458155Mammary Neoplasms1CTD_human
TgeneNOTCH2C1621958Glioblastoma Multiforme1CTD_human
TgeneNOTCH2C1704230Grade I Astrocytoma1CTD_human
TgeneNOTCH2C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneNOTCH2C2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneNOTCH2C2930971Acroosteolysis dominant type1ORPHANET
TgeneNOTCH2C4048328cervical cancer1CTD_human
TgeneNOTCH2C4704874Mammary Carcinoma, Human1CTD_human