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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:EIF6-EIF6 (FusionGDB2 ID:26120)

Fusion Gene Summary for EIF6-EIF6

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF6-EIF6
Fusion gene ID: 26120
HgeneTgene
Gene symbol

EIF6

EIF6

Gene ID

3692

3692

Gene nameeukaryotic translation initiation factor 6eukaryotic translation initiation factor 6
SynonymsCAB|EIF3A|ITGB4BP|b(2)gcn|eIF-6|p27(BBP)|p27BBPCAB|EIF3A|ITGB4BP|b(2)gcn|eIF-6|p27(BBP)|p27BBP
Cytomap

20q11.22

20q11.22

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 6B4 integrin interactoreukaryotic translation initiation factor 3Ap27 beta-4 integrin-binding proteineukaryotic translation initiation factor 6B4 integrin interactoreukaryotic translation initiation factor 3Ap27 beta-4 integrin-binding protein
Modification date2020031320200313
UniProtAcc

P56537

P56537

Ensembl transtripts involved in fusion geneENST00000374436, ENST00000374443, 
ENST00000374450, ENST00000462894, 
ENST00000374436, ENST00000374443, 
ENST00000374450, ENST00000462894, 
Fusion gene scores* DoF score2 X 3 X 2=126 X 7 X 3=126
# samples 38
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF6 [Title/Abstract] AND EIF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF6(33867465)-EIF6(33866812), # samples:1
EIF6(33866857)-EIF6(33867506), # 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

check buttonFusion gene breakpoints across EIF6 (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 EIF6 (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
ChiTaRS5.0N/ABG951220EIF6chr20

33867465

+EIF6chr20

33866812

-
ChiTaRS5.0N/ABG957584EIF6chr20

33866857

+EIF6chr20

33867506

-


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Fusion Gene ORF analysis for EIF6-EIF6

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
intron-3CDSENST00000374436ENST00000374436EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374436ENST00000374443EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374436ENST00000374450EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374443ENST00000374436EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374443ENST00000374443EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374443ENST00000374450EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374450ENST00000374436EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374450ENST00000374443EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000374450ENST00000374450EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000462894ENST00000374436EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000462894ENST00000374443EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3CDSENST00000462894ENST00000374450EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-3UTRENST00000374436ENST00000374436EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374436ENST00000374443EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374436ENST00000374450EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374443ENST00000374436EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374443ENST00000374443EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374443ENST00000374450EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374450ENST00000374436EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374450ENST00000374443EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000374450ENST00000374450EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000462894ENST00000374436EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000462894ENST00000374443EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-3UTRENST00000462894ENST00000374450EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-intronENST00000374436ENST00000462894EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-intronENST00000374436ENST00000462894EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-intronENST00000374443ENST00000462894EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-intronENST00000374443ENST00000462894EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-intronENST00000374450ENST00000462894EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-intronENST00000374450ENST00000462894EIF6chr20

33866857

+EIF6chr20

33867506

-
intron-intronENST00000462894ENST00000462894EIF6chr20

33867465

+EIF6chr20

33866812

-
intron-intronENST00000462894ENST00000462894EIF6chr20

33866857

+EIF6chr20

33867506

-

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 EIF6-EIF6


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.

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Fusion Protein Features for EIF6-EIF6


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/:33867465/:33866812)
- 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
EIF6

P56537

EIF6

P56537

FUNCTION: Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity). {ECO:0000255|HAMAP-Rule:MF_03132, ECO:0000269|PubMed:10085284, ECO:0000269|PubMed:14654845, ECO:0000269|PubMed:17507929, ECO:0000269|PubMed:21536732}.FUNCTION: Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity). {ECO:0000255|HAMAP-Rule:MF_03132, ECO:0000269|PubMed:10085284, ECO:0000269|PubMed:14654845, ECO:0000269|PubMed:17507929, ECO:0000269|PubMed:21536732}.

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 EIF6-EIF6


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 EIF6-EIF6


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 EIF6-EIF6


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 EIF6-EIF6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource