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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:EIF5A-COX4I1 (FusionGDB2 ID:HG1984TG1327)

Fusion Gene Summary for EIF5A-COX4I1

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF5A-COX4I1
Fusion gene ID: hg1984tg1327
HgeneTgene
Gene symbol

EIF5A

COX4I1

Gene ID

1984

1327

Gene nameeukaryotic translation initiation factor 5Acytochrome c oxidase subunit 4I1
SynonymsEIF-5A|EIF5A1|eIF-4D|eIF5AICOX IV-1|COX4|COX4-1|COXIV|COXIV-1
Cytomap('EIF5A')('COX4I1')

17p13.1

16q24.1

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 5A-1eukaryotic initiation factor 5Arev-binding factorcytochrome c oxidase subunit 4 isoform 1, mitochondrialcytochrome c oxidase polypeptide IVcytochrome c oxidase subunit IV
Modification date2020031320200313
UniProtAcc

P63241

.
Ensembl transtripts involved in fusion geneENST00000336452, ENST00000336458, 
ENST00000416016, ENST00000419711, 
ENST00000571955, ENST00000572815, 
ENST00000573542, ENST00000576930, 
Fusion gene scores* DoF score10 X 9 X 6=5408 X 7 X 6=336
# samples 108
** MAII scorelog2(10/540*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF5A [Title/Abstract] AND COX4I1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF5A(7214970)-COX4I1(85840344), # samples:1
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
HgeneEIF5A

GO:0006913

nucleocytoplasmic transport

12210765

HgeneEIF5A

GO:0006915

apoptotic process

15371445|17187778



check button Fusion gene information
* 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
ChimerDB4COADTCGA-AZ-4616-01AEIF5Achr17

7214970

+COX4I1chr16

85840344

+


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Fusion Gene ORF analysis for EIF5A-COX4I1

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
3UTR-3UTRENST00000336452ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336452ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336452ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336452ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336452ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336458ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336458ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336458ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336458ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000336458ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000416016ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000416016ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000416016ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000416016ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000416016ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000419711ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000419711ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000419711ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000419711ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000419711ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000571955ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000571955ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000571955ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000571955ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000571955ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000572815ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000572815ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000572815ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000572815ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000572815ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000573542ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000573542ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000573542ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000573542ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000573542ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000576930ENST00000253452EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000576930ENST00000561569EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000576930ENST00000562336EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000576930ENST00000564903EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-3UTRENST00000576930ENST00000568794EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000336452ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000336458ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000416016ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000419711ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000571955ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000572815ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000573542ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+
3UTR-intronENST00000576930ENST00000570123EIF5Achr17

7214970

+COX4I1chr16

85840344

+

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 EIF5A-COX4I1


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)
EIF5Achr177214970+COX4I1chr1685840343+7.74E-050.99992263
EIF5Achr177214970+COX4I1chr1685840343+7.74E-050.99992263


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.
genomic feature of top 1%

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Fusion Protein Features for EIF5A-COX4I1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7214970/:85840344)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF5A

P63241

.
FUNCTION: mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF-alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts. {ECO:0000269|PubMed:15371445, ECO:0000269|PubMed:15452064, ECO:0000269|PubMed:16987817, ECO:0000269|PubMed:17187778, ECO:0000269|PubMed:17360499}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 EIF5A-COX4I1


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 EIF5A-COX4I1


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 EIF5A-COX4I1


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 EIF5A-COX4I1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF5AC0007097Carcinoma1CTD_human
HgeneEIF5AC0022548Keloid1CTD_human
HgeneEIF5AC0024667Animal Mammary Neoplasms1CTD_human
HgeneEIF5AC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEIF5AC0205696Anaplastic carcinoma1CTD_human
HgeneEIF5AC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneEIF5AC0205698Undifferentiated carcinoma1CTD_human
HgeneEIF5AC0205699Carcinomatosis1CTD_human
HgeneEIF5AC1257925Mammary Carcinoma, Animal1CTD_human