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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:EML2-GOT2 (FusionGDB2 ID:26444)

Fusion Gene Summary for EML2-GOT2

check button Fusion gene summary
Fusion gene informationFusion gene name: EML2-GOT2
Fusion gene ID: 26444
HgeneTgene
Gene symbol

EML2

GOT2

Gene ID

24139

2806

Gene nameEMAP like 2glutamic-oxaloacetic transaminase 2
SynonymsELP70|EMAP-2|EMAP2KAT4|KATIV|KYAT4|mitAAT
Cytomap

19q13.32

16q21

Type of geneprotein-codingprotein-coding
Descriptionechinoderm microtubule-associated protein-like 2echinoderm MT-associated protein (EMAP)-like protein 70echinoderm microtubule associated protein like 2microtubule-associated protein like echinoderm EMAPaspartate aminotransferase, mitochondrialFABP-1FABPpmaspartate aminotransferase 2aspartate transaminase 2fatty acid-binding proteinglutamate oxaloacetate transaminase 2glutamic-oxaloacetic transaminase 2, mitochondrialkynurenine aminotransferase 4
Modification date2020031320200313
UniProtAcc

O95834

P00505

Ensembl transtripts involved in fusion geneENST00000245925, ENST00000536630, 
ENST00000586902, ENST00000587152, 
ENST00000589876, 
ENST00000245206, 
ENST00000434819, ENST00000564400, 
Fusion gene scores* DoF score8 X 6 X 4=1927 X 9 X 3=189
# samples 89
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EML2 [Title/Abstract] AND GOT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEML2(46121892)-GOT2(58753399), # 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
HgeneEML2

GO:0010968

regulation of microtubule nucleation

11694528

HgeneEML2

GO:0031115

negative regulation of microtubule polymerization

11694528

TgeneGOT2

GO:0006533

aspartate catabolic process

2567216

TgeneGOT2

GO:0045471

response to ethanol

9537447


check buttonFusion gene breakpoints across EML2 (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 GOT2 (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/ABF365549EML2chr19

46121892

+GOT2chr16

58753399

-


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Fusion Gene ORF analysis for EML2-GOT2

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-intronENST00000245925ENST00000245206EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000245925ENST00000434819EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000245925ENST00000564400EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000536630ENST00000245206EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000536630ENST00000434819EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000536630ENST00000564400EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000586902ENST00000245206EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000586902ENST00000434819EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000586902ENST00000564400EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000587152ENST00000245206EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000587152ENST00000434819EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000587152ENST00000564400EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000589876ENST00000245206EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000589876ENST00000434819EML2chr19

46121892

+GOT2chr16

58753399

-
intron-intronENST00000589876ENST00000564400EML2chr19

46121892

+GOT2chr16

58753399

-

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 EML2-GOT2


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 EML2-GOT2


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/:46121892/:58753399)
- 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
EML2

O95834

GOT2

P00505

FUNCTION: Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules. {ECO:0000269|PubMed:11694528}.FUNCTION: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids. {ECO:0000269|PubMed:31422819, ECO:0000269|PubMed:9537447}.

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 EML2-GOT2


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 EML2-GOT2


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 EML2-GOT2


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 EML2-GOT2


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