FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:GNAS-ELK3 (FusionGDB2 ID:33620)

Fusion Gene Summary for GNAS-ELK3

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS-ELK3
Fusion gene ID: 33620
HgeneTgene
Gene symbol

GNAS

ELK3

Gene ID

2778

2004

Gene nameGNAS complex locusETS transcription factor ELK3
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVIERP|NET|SAP-2|SAP2
Cytomap

20q13.32

12q23.1

Type of geneprotein-codingprotein-coding
Descriptionprotein 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 ETS domain-containing protein Elk-3ELK3, ETS transcription factorELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2
Modification date2020032920200313
UniProtAcc

P63092

P41970

Ensembl transtripts involved in fusion geneENST00000265620, ENST00000306090, 
ENST00000313949, ENST00000354359, 
ENST00000371075, ENST00000371085, 
ENST00000371095, ENST00000371100, 
ENST00000371102, ENST00000464624, 
ENST00000306120, ENST00000371081, 
ENST00000371098, ENST00000371099, 
ENST00000228741, ENST00000552142, 
ENST00000549529, 
Fusion gene scores* DoF score44 X 25 X 16=1760024 X 8 X 11=2112
# samples 5122
** MAII scorelog2(51/17600*10)=-5.10893437155316
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/2112*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND ELK3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNAS(57486247)-ELK3(96588323), # 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
TgeneELK3

GO:0045892

negative regulation of transcription, DNA-templated

12933792

TgeneELK3

GO:0045944

positive regulation of transcription by RNA polymerase II

12788937


check buttonFusion gene breakpoints across GNAS (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 ELK3 (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
ChimerDB4THCATCGA-IM-A3EB-01AGNASchr20

57486247

-ELK3chr12

96588323

+


Top

Fusion Gene ORF analysis for GNAS-ELK3

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
5CDS-5UTRENST00000265620ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000265620ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000306090ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000306090ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000313949ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000313949ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000354359ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000354359ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371075ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371075ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371085ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371085ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371095ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371095ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371100ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371100ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371102ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000371102ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000464624ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-5UTRENST00000464624ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000265620ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000306090ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000313949ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000354359ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000371075ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000371085ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000371095ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000371100ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000371102ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
5CDS-intronENST00000464624ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000306120ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000306120ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371081ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371081ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371098ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371098ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371099ENST00000228741GNASchr20

57486247

-ELK3chr12

96588323

+
intron-5UTRENST00000371099ENST00000552142GNASchr20

57486247

-ELK3chr12

96588323

+
intron-intronENST00000306120ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
intron-intronENST00000371081ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
intron-intronENST00000371098ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+
intron-intronENST00000371099ENST00000549529GNASchr20

57486247

-ELK3chr12

96588323

+

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

Top

Fusion Genomic Features for GNAS-ELK3


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.

Top

Fusion Protein Features for GNAS-ELK3


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/:57486247/:96588323)
- 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
GNAS

P63092

ELK3

P41970

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}.FUNCTION: May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.

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


Top

Fusion Gene Sequence for GNAS-ELK3


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.

Top

Fusion Gene PPI Analysis for GNAS-ELK3


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


Top

Related Drugs for GNAS-ELK3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for GNAS-ELK3


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