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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EIF2S3-PRDX4 (FusionGDB2 ID:25733)

Fusion Gene Summary for EIF2S3-PRDX4

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2S3-PRDX4
Fusion gene ID: 25733
HgeneTgene
Gene symbol

EIF2S3

PRDX4

Gene ID

1968

10549

Gene nameeukaryotic translation initiation factor 2 subunit gammaperoxiredoxin 4
SynonymsEIF2|EIF2G|EIF2gamma|MEHMO|MRXSBRK|eIF-2gAAOE37-2|AOE372|HEL-S-97n|PRX-4
Cytomap

Xp22.11

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2 subunit 3eIF-2-gamma XeIF-2gXeukaryotic translation initiation factor 2 subunit gamma Xeukaryotic translation initiation factor 2, subunit 3 gamma, 52kDaeukaryotic translation initiation factor 2Gperoxiredoxin-4antioxidant enzyme AOE372epididymis secretory sperm binding protein Li 97nperoxiredoxin IVprx-IVthioredoxin peroxidase (antioxidant enzyme)thioredoxin peroxidase AO372thioredoxin-dependent peroxide reductase A0372
Modification date2020031320200313
UniProtAcc

P41091

.
Ensembl transtripts involved in fusion geneENST00000253039, ENST00000460032, 
ENST00000379341, ENST00000495599, 
ENST00000379331, 
Fusion gene scores* DoF score5 X 5 X 2=505 X 7 X 3=105
# samples 66
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2S3 [Title/Abstract] AND PRDX4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2S3(24078299)-PRDX4(23704402), # samples:1
EIF2S3(24078299)-PRDX4(23704401), # samples:1
Anticipated loss of major functional domain due to fusion event.EIF2S3-PRDX4 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EIF2S3-PRDX4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneEIF2S3

GO:0006413

translational initiation

10900014


check buttonFusion gene breakpoints across EIF2S3 (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 PRDX4 (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
ChimerDB4STADTCGA-CG-5718-01AEIF2S3chrX

24078299

+PRDX4chrX

23704402

+
ChimerDB4STADTCGA-CG-5718EIF2S3chrX

24078299

+PRDX4chrX

23704401

+


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Fusion Gene ORF analysis for EIF2S3-PRDX4

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
Frame-shiftENST00000253039ENST00000379341EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
5CDS-intronENST00000253039ENST00000495599EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
5CDS-intronENST00000253039ENST00000379331EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
intron-3CDSENST00000460032ENST00000379341EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
intron-intronENST00000460032ENST00000495599EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
intron-intronENST00000460032ENST00000379331EIF2S3chrX

24078299

+PRDX4chrX

23704402

+
Frame-shiftENST00000253039ENST00000379341EIF2S3chrX

24078299

+PRDX4chrX

23704401

+
5CDS-intronENST00000253039ENST00000495599EIF2S3chrX

24078299

+PRDX4chrX

23704401

+
5CDS-intronENST00000253039ENST00000379331EIF2S3chrX

24078299

+PRDX4chrX

23704401

+
intron-3CDSENST00000460032ENST00000379341EIF2S3chrX

24078299

+PRDX4chrX

23704401

+
intron-intronENST00000460032ENST00000495599EIF2S3chrX

24078299

+PRDX4chrX

23704401

+
intron-intronENST00000460032ENST00000379331EIF2S3chrX

24078299

+PRDX4chrX

23704401

+

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

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Fusion Genomic Features for EIF2S3-PRDX4


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)
EIF2S3chrX24078299+PRDX4chrX23704401+2.48E-101
EIF2S3chrX24078299+PRDX4chrX23704401+2.48E-101
EIF2S3chrX24078299+PRDX4chrX23704401+2.48E-101
EIF2S3chrX24078299+PRDX4chrX23704401+2.48E-101

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.

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Fusion Protein Features for EIF2S3-PRDX4


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
EIF2S3

P41091

.
FUNCTION: As a subunit of eukaryotic initiation factor 2 (eIF-2), involved in the early steps of protein synthesis. In the presence of GTP, eIF-2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex and initiation factors eIF-1, eIF-1A and eIF-3 to form the 43S pre-initiation complex (43S PIC), a step that determines the rate of protein translation. The 43S PIC binds to mRNA and scans downstream to the initiation codon, where it forms a 48S initiation complex by codon-anticodon base pairing. This leads to the displacement of eIF-1 to allow GTPase-activating protein (GAP) eIF-5-mediated hydrolysis of eIF2-bound GTP. Hydrolysis of GTP and release of Pi, which makes GTP hydrolysis irreversible, causes the release of the eIF-2-GDP binary complex from the 40S subunit, an event that is essential for the subsequent joining of the 60S ribosomal subunit to form an elongation-competent 80S ribosome. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must be exchanged with GTP by way of a reaction catalyzed by GDP-GTP exchange factor (GEF) eIF-2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity). {ECO:0000250|UniProtKB:P32481, ECO:0000250|UniProtKB:Q9Z0N1}.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.

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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Fusion Gene Sequence for EIF2S3-PRDX4


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.

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Fusion Gene PPI Analysis for EIF2S3-PRDX4


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


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Related Drugs for EIF2S3-PRDX4


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

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Related Diseases for EIF2S3-PRDX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2S3C1846278MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneEIF2S3C0011847Diabetes1GENOMICS_ENGLAND
HgeneEIF2S3C0011849Diabetes Mellitus1GENOMICS_ENGLAND
HgeneEIF2S3C0014544Epilepsy1GENOMICS_ENGLAND
HgeneEIF2S3C0020619Hypogonadism1GENOMICS_ENGLAND
HgeneEIF2S3C0025958Microcephaly1GENOMICS_ENGLAND
HgeneEIF2S3C0311277Obesity, Abdominal1GENOMICS_ENGLAND
HgeneEIF2S3C1855333External genital hypoplasia1GENOMICS_ENGLAND
HgeneEIF2S3C3714756Intellectual Disability1GENOMICS_ENGLAND
TgenePRDX4C0020456Hyperglycemia1CTD_human
TgenePRDX4C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgenePRDX4C0162820Dermatitis, Allergic Contact1CTD_human
TgenePRDX4C0235874Disease Exacerbation1CTD_human
TgenePRDX4C0271650Impaired glucose tolerance1CTD_human
TgenePRDX4C1855520Hyperglycemia, Postprandial1CTD_human