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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:PTK2-EIF3E (FusionGDB2 ID:70034)

Fusion Gene Summary for PTK2-EIF3E

check button Fusion gene summary
Fusion gene informationFusion gene name: PTK2-EIF3E
Fusion gene ID: 70034
HgeneTgene
Gene symbol

PTK2

EIF3E

Gene ID

5747

3646

Gene nameprotein tyrosine kinase 2eukaryotic translation initiation factor 3 subunit E
SynonymsFADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAKEIF3-P48|EIF3S6|INT6|eIF3-p46
Cytomap

8q24.3

8q23.1

Type of geneprotein-codingprotein-coding
Descriptionfocal adhesion kinase 1FADK 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase isoform FAK-Del33focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71eukaryotic 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)euka
Modification date2020032720200313
UniProtAcc.

P60228

Ensembl transtripts involved in fusion geneENST00000340930, ENST00000395218, 
ENST00000519881, ENST00000521059, 
ENST00000522684, ENST00000430260, 
ENST00000517712, ENST00000517887, 
ENST00000519419, ENST00000519465, 
ENST00000519635, ENST00000520151, 
ENST00000520892, ENST00000522950, 
ENST00000535192, ENST00000538769, 
ENST00000220849, ENST00000519030, 
ENST00000519517, 
Fusion gene scores* DoF score39 X 32 X 15=1872021 X 12 X 10=2520
# samples 5721
** MAII scorelog2(57/18720*10)=-5.03747470541866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/2520*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTK2 [Title/Abstract] AND EIF3E [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTK2(142011224)-EIF3E(109321692), # 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
HgenePTK2

GO:0007179

transforming growth factor beta receptor signaling pathway

24036928

HgenePTK2

GO:0007229

integrin-mediated signaling pathway

24036928

HgenePTK2

GO:0010763

positive regulation of fibroblast migration

26763945

HgenePTK2

GO:0018108

peptidyl-tyrosine phosphorylation

10655584|11331870

HgenePTK2

GO:0022408

negative regulation of cell-cell adhesion

21703394

HgenePTK2

GO:0030335

positive regulation of cell migration

11331870|21703394

HgenePTK2

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

HgenePTK2

GO:0046777

protein autophosphorylation

10655584|11331870

HgenePTK2

GO:0048013

ephrin receptor signaling pathway

10655584

HgenePTK2

GO:0060396

growth hormone receptor signaling pathway

10925297

HgenePTK2

GO:0090303

positive regulation of wound healing

26763945

TgeneEIF3E

GO:0006413

translational initiation

17581632


check buttonFusion gene breakpoints across PTK2 (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 EIF3E (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
ChimerDB4BLCATCGA-C4-A0F0-01APTK2chr8

142011224

-EIF3Echr8

109321692

-


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Fusion Gene ORF analysis for PTK2-EIF3E

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-intronENST00000340930ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000340930ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000340930ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000395218ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000395218ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000395218ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000519881ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000519881ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000519881ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000521059ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000521059ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000521059ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000522684ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000522684ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
5UTR-intronENST00000522684ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000430260ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000430260ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000430260ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517712ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517712ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517712ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517887ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517887ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000517887ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519419ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519419ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519419ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519465ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519465ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519465ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519635ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519635ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000519635ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520151ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520151ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520151ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520892ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520892ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000520892ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000522950ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000522950ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000522950ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000535192ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000535192ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000535192ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000538769ENST00000220849PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000538769ENST00000519030PTK2chr8

142011224

-EIF3Echr8

109321692

-
intron-intronENST00000538769ENST00000519517PTK2chr8

142011224

-EIF3Echr8

109321692

-

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 PTK2-EIF3E


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 PTK2-EIF3E


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/:142011224/:109321692)
- 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

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}.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}.

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 PTK2-EIF3E


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 PTK2-EIF3E


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 PTK2-EIF3E


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 PTK2-EIF3E


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