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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:EIF3E-LAPTM4B (FusionGDB2 ID:25825)

Fusion Gene Summary for EIF3E-LAPTM4B

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF3E-LAPTM4B
Fusion gene ID: 25825
HgeneTgene
Gene symbol

EIF3E

LAPTM4B

Gene ID

3646

55353

Gene nameeukaryotic translation initiation factor 3 subunit Elysosomal protein transmembrane 4 beta
SynonymsEIF3-P48|EIF3S6|INT6|eIF3-p46LAPTM4beta|LC27
Cytomap

8q23.1

8q22.1

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 3 subunit EeIF-3 p48eukaryotic translation initiation factor 3 subunit 6eukaryotic translation initiation factor 3 subunit E isoform 2 transcripteukaryotic translation initiation factor 3, subunit 6 (48kD)eukalysosomal-associated transmembrane protein 4Blysosomal associated protein transmembrane 4 betalysosome-associated transmembrane protein 4-beta
Modification date2020031320200313
UniProtAcc

P60228

Q86VI4

Ensembl transtripts involved in fusion geneENST00000519030, ENST00000220849, 
ENST00000519517, 
ENST00000445593, 
ENST00000521545, 
Fusion gene scores* DoF score13 X 12 X 7=109214 X 8 X 8=896
# samples 1616
** MAII scorelog2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/896*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF3E [Title/Abstract] AND LAPTM4B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF3E(109260842)-LAPTM4B(98817581), # 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
HgeneEIF3E

GO:0006413

translational initiation

17581632

TgeneLAPTM4B

GO:0032509

endosome transport via multivesicular body sorting pathway

25588945

TgeneLAPTM4B

GO:0032911

negative regulation of transforming growth factor beta1 production

26126825


check buttonFusion gene breakpoints across EIF3E (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across LAPTM4B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BRCATCGA-A1-A0SP-01AEIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+


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Fusion Gene ORF analysis for EIF3E-LAPTM4B

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-3CDSENST00000519030ENST00000445593EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+
5UTR-3CDSENST00000519030ENST00000521545EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+
In-frameENST00000220849ENST00000445593EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+
In-frameENST00000220849ENST00000521545EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+
intron-3CDSENST00000519517ENST00000445593EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+
intron-3CDSENST00000519517ENST00000521545EIF3Echr8

109260842

-LAPTM4Bchr8

98817581

+

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)
ENST00000220849EIF3Echr8109260842-ENST00000445593LAPTM4Bchr898817581+227415363734223
ENST00000220849EIF3Echr8109260842-ENST00000521545LAPTM4Bchr898817581+73515363734223

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
ENST00000220849ENST00000445593EIF3Echr8109260842-LAPTM4Bchr898817581+0.000641280.9993587
ENST00000220849ENST00000521545EIF3Echr8109260842-LAPTM4Bchr898817581+0.0008858640.9991141

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Fusion Genomic Features for EIF3E-LAPTM4B


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)
EIF3Echr8109260841-LAPTM4Bchr898817580+1.34E-091
EIF3Echr8109260841-LAPTM4Bchr898817580+1.34E-091

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.
genomic feature

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 EIF3E-LAPTM4B


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/chr8:109260842/chr8:98817581)
- 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
EIF3E

P60228

LAPTM4B

Q86VI4

FUNCTION: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway (PubMed:17468741). May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins (PubMed:17310990, PubMed:17324924). {ECO:0000255|HAMAP-Rule:MF_03004, ECO:0000269|PubMed:17310990, ECO:0000269|PubMed:17324924, ECO:0000269|PubMed:17468741, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.FUNCTION: Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656). {ECO:0000269|PubMed:21224396, ECO:0000269|PubMed:25588945, ECO:0000269|PubMed:25998567, ECO:0000269|PubMed:26126825, ECO:0000269|PubMed:26280656}.

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
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000044559307163_183124318.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000044559307191_211124318.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000044559307244_264124318.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000052154507117_13733227.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000052154507163_18333227.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000052154507191_21133227.0TransmembraneHelical
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000052154507244_26433227.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEIF3Echr8:109260842chr8:98817581ENST00000220849-113221_39830446.0DomainPCI
TgeneLAPTM4Bchr8:109260842chr8:98817581ENST0000044559307117_137124318.0TransmembraneHelical


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Fusion Gene Sequence for EIF3E-LAPTM4B


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.
>25825_25825_1_EIF3E-LAPTM4B_EIF3E_chr8_109260842_ENST00000220849_LAPTM4B_chr8_98817581_ENST00000445593_length(transcript)=2274nt_BP=153nt
TGTTCGTTTGTCGGCGCTACCAATAAAGTTTTAGTGAGCACAGACTCCCTTTTCTTTGGCAAGATGGCGGAGTACGACTTGACTACTCGC
ATCGCGCACTTTTTGGATCGGCATCTAGTCTTTCCGCTTCTTGAATTTCTCTCTGTAAAGGAGATCATCAATGCTGTGGTACTGTTGATT
TTATTGAGTGCCCTGGCTGATCCGGATCAGTATAACTTTTCAAGTTCTGAACTGGGAGGTGACTTTGAGTTCATGGATGATGCCAACATG
TGCATTGCCATTGCGATTTCTCTTCTCATGATCCTGATATGTGCTATGGCTACTTACGGAGCGTACAAGCAACGCGCAGCCTGGATCATC
CCATTCTTCTGTTACCAGATCTTTGACTTTGCCCTGAACATGTTGGTTGCAATCACTGTGCTTATTTATCCAAACTCCATTCAGGAATAC
ATACGGCAACTGCCTCCTAATTTTCCCTACAGAGATGATGTCATGTCAGTGAATCCTACCTGTTTGGTCCTTATTATTCTTCTGTTTATT
AGCATTATCTTGACTTTTAAGGGTTACTTGATTAGCTGTGTTTGGAACTGCTACCGATACATCAATGGTAGGAACTCCTCTGATGTCCTG
GTTTATGTTACCAGCAATGACACTACGGTGCTGCTACCCCCGTATGATGATGCCACTGTGAATGGTGCTGCCAAGGAGCCACCGCCACCT
TACGTGTCTGCCTAAGCCTTCAAGTGGGCGGAGCTGAGGGCAGCAGCTTGACTTTGCAGACATCTGAGCAATAGTTCTGTTATTTCACTT
TTGCCATGAGCCTCTCTGAGCTTGTTTGTTGCTGAAATGCTACTTTTTAAAATTTAGATGTTAGATTGAAAACTGTAGTTTTCAACATAT
GCTTTGCTGGAACACTGTGATAGATTAACTGTAGAATTCTTCCTGTACGATTGGGGATATAATGGGCTTCACTAACCTTCCCTAGGCATT
GAAACTTCCCCCAAATCTGATGGACCTAGAAGTCTGCTTTTGTACCTGCTGGGCCCCAAAGTTGGGCATTTTTCTCTCTGTTCCCTCTCT
TTTGAAAATGTAAAATAAAACCAAAAATAGACAACTTTTTCTTCAGCCATTCCAGCATAGAGAACAAAACCTTATGGAAACAGGAATGTC
AATTGTGTAATCATTGTTCTAATTAGGTAAATAGAAGTCCTTATGTATGTGTTACAAGAATTTCCCCCACAACATCCTTTATGACTGAAG
TTCAATGACAGTTTGTGTTTGGTGGTAAAGGATTTTCTCCATGGCCTGAATTAAGACCATTAGAAAGCACCAGGCCGTGGGAGCAGTGAC
CATCTGCTGACTGTTCTTGTGGATCTTGTGTCCAGGGACATGGGGTGACATGCCTCGTATGTGTTAGAGGGTGGAATGGATGTGTTTGGC
GCTGCATGGGATCTGGTGCCCCTCTTCTCCTGGATTCACATCCCCACCCAGGGCCCGCTTTTACTAAGTGTTCTGCCCTAGATTGGTTCA
AGGAGGTCATCCAACTGACTTTATCAAGTGGAATTGGGATATATTTGATATACTTCTGCCTAACAACATGGAAAAGGGTTTTCTTTTCCC
TGCAAGCTACATCCTACTGCTTTGAACTTCCAAGTATGTCTAGTCACCTTTTAAAATGTAAACATTTTCAGAAAAATGAGGATTGCCTTC
CTTGTATGCGCTTTTTACCTTGACTACCTGAATTGCAAGGGATTTTTATATATTCATATGTTACAAAGTCAGCAACTCTCCTGTTGGTTC
ATTATTGAATGTGCTGTAAATTAAGTTGTTTGCAATTAAAACAAGGTTTGCCCACATCCAAGATGACCTTGTGATTTTGTGCTGATTGTG
TCTGAGGACCTTTCCCTCCACATATGGTCTGGCAGATGCACCCAGTTCAGCCTAAGGAGTAGGCTTTTTTTTGGGGGGGGGAGGTCGGGT
GGGGGGGATTTTTAATCTTTTAATTTTCAAGATGGTTAAAATATTGAAATGTTTAAGTGGATAACTATATTATTCATAAAATGACTGAGT
GAAAACTAATACACTATGAGATGAAAAGTACTTGTCAGGGATTTTCAAGCTTTTGCTCAAGTAATTACTATGAAATAACAATTTCTAGAA
ATGAAGAACAATCCGTGGAGAATAAATTACCATTGGTGTGGGGGAAAAAAGCCAAACAGAAGTAGAAAAAGGTGTAGCCGGCATACAAAT

>25825_25825_1_EIF3E-LAPTM4B_EIF3E_chr8_109260842_ENST00000220849_LAPTM4B_chr8_98817581_ENST00000445593_length(amino acids)=223AA_BP=30
MAEYDLTTRIAHFLDRHLVFPLLEFLSVKEIINAVVLLILLSALADPDQYNFSSSELGGDFEFMDDANMCIAIAISLLMILICAMATYGA
YKQRAAWIIPFFCYQIFDFALNMLVAITVLIYPNSIQEYIRQLPPNFPYRDDVMSVNPTCLVLIILLFISIILTFKGYLISCVWNCYRYI

--------------------------------------------------------------
>25825_25825_2_EIF3E-LAPTM4B_EIF3E_chr8_109260842_ENST00000220849_LAPTM4B_chr8_98817581_ENST00000521545_length(transcript)=735nt_BP=153nt
TGTTCGTTTGTCGGCGCTACCAATAAAGTTTTAGTGAGCACAGACTCCCTTTTCTTTGGCAAGATGGCGGAGTACGACTTGACTACTCGC
ATCGCGCACTTTTTGGATCGGCATCTAGTCTTTCCGCTTCTTGAATTTCTCTCTGTAAAGGAGATCATCAATGCTGTGGTACTGTTGATT
TTATTGAGTGCCCTGGCTGATCCGGATCAGTATAACTTTTCAAGTTCTGAACTGGGAGGTGACTTTGAGTTCATGGATGATGCCAACATG
TGCATTGCCATTGCGATTTCTCTTCTCATGATCCTGATATGTGCTATGGCTACTTACGGAGCGTACAAGCAACGCGCAGCCTGGATCATC
CCATTCTTCTGTTACCAGATCTTTGACTTTGCCCTGAACATGTTGGTTGCAATCACTGTGCTTATTTATCCAAACTCCATTCAGGAATAC
ATACGGCAACTGCCTCCTAATTTTCCCTACAGAGATGATGTCATGTCAGTGAATCCTACCTGTTTGGTCCTTATTATTCTTCTGTTTATT
AGCATTATCTTGACTTTTAAGGGTTACTTGATTAGCTGTGTTTGGAACTGCTACCGATACATCAATGGTAGGAACTCCTCTGATGTCCTG
GTTTATGTTACCAGCAATGACACTACGGTGCTGCTACCCCCGTATGATGATGCCACTGTGAATGGTGCTGCCAAGGAGCCACCGCCACCT

>25825_25825_2_EIF3E-LAPTM4B_EIF3E_chr8_109260842_ENST00000220849_LAPTM4B_chr8_98817581_ENST00000521545_length(amino acids)=223AA_BP=30
MAEYDLTTRIAHFLDRHLVFPLLEFLSVKEIINAVVLLILLSALADPDQYNFSSSELGGDFEFMDDANMCIAIAISLLMILICAMATYGA
YKQRAAWIIPFFCYQIFDFALNMLVAITVLIYPNSIQEYIRQLPPNFPYRDDVMSVNPTCLVLIILLFISIILTFKGYLISCVWNCYRYI

--------------------------------------------------------------

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Fusion Gene PPI Analysis for EIF3E-LAPTM4B


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 EIF3E-LAPTM4B


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 EIF3E-LAPTM4B


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