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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:ELMO2-GNAS (FusionGDB2 ID:26249)

Fusion Gene Summary for ELMO2-GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: ELMO2-GNAS
Fusion gene ID: 26249
HgeneTgene
Gene symbol

ELMO2

GNAS

Gene ID

63916

2778

Gene nameengulfment and cell motility 2GNAS complex locus
SynonymsCED-12|CED12|Ced-12A|ELMO-2|VMPIAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

20q13.12

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionengulfment and cell motility protein 2PH domain protein CED12Aced-12 homolog 2protein ced-12 homolog Aprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha
Modification date2020031320200329
UniProtAcc

Q96JJ3

P63092

Ensembl transtripts involved in fusion geneENST00000290246, ENST00000372176, 
ENST00000396391, ENST00000439931, 
ENST00000488853, ENST00000352077, 
ENST00000445496, ENST00000454865, 
ENST00000313949, ENST00000371075, 
ENST00000371098, ENST00000371100, 
ENST00000464624, ENST00000265620, 
ENST00000306090, ENST00000306120, 
ENST00000354359, ENST00000371081, 
ENST00000371085, ENST00000371095, 
ENST00000371099, ENST00000371102, 
Fusion gene scores* DoF score8 X 9 X 6=432111 X 41 X 18=81918
# samples 10111
** MAII scorelog2(10/432*10)=-2.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(111/81918*10)=-6.20554891117303
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELMO2 [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELMO2(45035187)-GNAS(57470667), # 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 ELMO2 (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 GNAS (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
ChimerDB4BRCATCGA-A2-A3XY-01AELMO2chr20

45035187

-GNASchr20

57470667

+


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Fusion Gene ORF analysis for ELMO2-GNAS

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-3UTRENST00000290246ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000290246ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000290246ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000290246ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000290246ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000372176ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000372176ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000372176ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000372176ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000372176ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000396391ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000396391ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000396391ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000396391ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000396391ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000439931ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000439931ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000439931ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000439931ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000439931ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000488853ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000488853ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000488853ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000488853ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-3UTRENST00000488853ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000290246ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000372176ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000396391ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000439931ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
5UTR-intronENST00000488853ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000352077ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000352077ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000352077ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000352077ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000352077ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000445496ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000445496ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000445496ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000445496ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000445496ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000454865ENST00000313949ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000454865ENST00000371075ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000454865ENST00000371098ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000454865ENST00000371100ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-3UTRENST00000454865ENST00000464624ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000352077ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000445496ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000265620ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000306090ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000306120ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000354359ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000371081ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000371085ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000371095ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000371099ELMO2chr20

45035187

-GNASchr20

57470667

+
intron-intronENST00000454865ENST00000371102ELMO2chr20

45035187

-GNASchr20

57470667

+

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 ELMO2-GNAS


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)
ELMO2chr2045035186-GNASchr2057470666+5.75E-050.99994254
ELMO2chr2045035186-GNASchr2057470666+5.75E-050.99994254

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.
genomic feature of top 1%

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Fusion Protein Features for ELMO2-GNAS


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/:45035187/:57470667)
- 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
ELMO2

Q96JJ3

GNAS

P63092

FUNCTION: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:11703939, ECO:0000269|PubMed:20679435, ECO:0000269|PubMed:27476657}.FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161). {ECO:0000269|PubMed:12391161, ECO:0000269|PubMed:17110384, ECO:0000269|PubMed:21488135, ECO:0000269|PubMed:26206488, ECO:0000269|PubMed:8702665}.

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 ELMO2-GNAS


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 ELMO2-GNAS


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 ELMO2-GNAS


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 ELMO2-GNAS


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