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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:MKNK1-EFCAB14 (FusionGDB2 ID:54096)

Fusion Gene Summary for MKNK1-EFCAB14

check button Fusion gene summary
Fusion gene informationFusion gene name: MKNK1-EFCAB14
Fusion gene ID: 54096
HgeneTgene
Gene symbol

MKNK1

EFCAB14

Gene ID

8569

9813

Gene nameMAPK interacting serine/threonine kinase 1EF-hand calcium binding domain 14
SynonymsMNK1KIAA0494
Cytomap

1p33

1p33

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-interacting serine/threonine-protein kinase 1MAP kinase interacting serine/threonine kinase 1MAP kinase signal-integrating kinase 1MAPK signal-integrating kinase 1EF-hand calcium-binding domain-containing protein 14
Modification date2020032720200313
UniProtAcc

Q9BUB5

O75071

Ensembl transtripts involved in fusion geneENST00000545730, ENST00000341183, 
ENST00000371944, ENST00000371945, 
ENST00000371946, ENST00000428112, 
ENST00000465783, ENST00000525888, 
ENST00000371933, ENST00000544071, 
ENST00000484461, 
Fusion gene scores* DoF score3 X 5 X 4=606 X 7 X 4=168
# samples 57
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKNK1 [Title/Abstract] AND EFCAB14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMKNK1(47082383)-EFCAB14(47182115), # samples:2
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
HgeneMKNK1

GO:0006468

protein phosphorylation

9155018

HgeneMKNK1

GO:0018105

peptidyl-serine phosphorylation

17130135

HgeneMKNK1

GO:0035556

intracellular signal transduction

9155018


check buttonFusion gene breakpoints across MKNK1 (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 EFCAB14 (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
ChimerDB4OVTCGA-13-0893-01BMKNK1chr1

47082383

-EFCAB14chr1

47131036

-
ChimerDB4UCECTCGA-KP-A3W4-01AMKNK1chr1

47082383

-EFCAB14chr1

47182115

-


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Fusion Gene ORF analysis for MKNK1-EFCAB14

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-3CDSENST00000545730ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
5UTR-3CDSENST00000545730ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
5UTR-3CDSENST00000545730ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
5UTR-intronENST00000545730ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
5UTR-intronENST00000545730ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
5UTR-intronENST00000545730ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000341183ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000341183ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000341183ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371944ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371944ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000371944ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371945ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371945ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000371945ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371946ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000371946ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000371946ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000428112ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000428112ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000428112ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000465783ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000465783ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000465783ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000525888ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-3CDSENST00000525888ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-3CDSENST00000525888ENST00000544071MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000341183ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000341183ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000341183ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000371944ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371944ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371944ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000371945ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371945ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371945ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000371946ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371946ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000371946ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000428112ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000428112ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000428112ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000465783ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000465783ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000465783ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-
intron-intronENST00000525888ENST00000371933MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000525888ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47131036

-
intron-intronENST00000525888ENST00000484461MKNK1chr1

47082383

-EFCAB14chr1

47182115

-

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 MKNK1-EFCAB14


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 MKNK1-EFCAB14


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/:47082383/:47182115)
- 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
MKNK1

Q9BUB5

EFCAB14

O75071

FUNCTION: May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. {ECO:0000269|PubMed:11463832, ECO:0000269|PubMed:15350534, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9878069}.

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 MKNK1-EFCAB14


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 MKNK1-EFCAB14


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 MKNK1-EFCAB14


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 MKNK1-EFCAB14


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