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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:MGA-GNAS (FusionGDB2 ID:53294)

Fusion Gene Summary for MGA-GNAS

Fusion gene summary

Fusion gene information	Fusion gene name: MGA-GNAS
	Fusion gene ID: 53294
		Hgene	Tgene
	Gene symbol	MGA	GNAS
	Gene ID	23269	2778
	Gene name	MAX dimerization protein MGA	GNAS complex locus
	Synonyms	MAD5\|MXD5	AHO\|C20orf45\|GNAS1\|GPSA\|GSA\|GSP\|NESP\|PITA3\|POH\|SCG6\|SgVI
	Cytomap	15q15.1	20q13.32
	Type of gene	protein-coding	protein-coding
	Description	MAX gene-associated proteinMAX dimerization protein 5MGA, MAX dimerization protein	protein 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 date	20200313	20200329
	UniProtAcc	Q8IWI9	P63092
	Ensembl transtripts involved in fusion gene	ENST00000219905, ENST00000389936, ENST00000545763, ENST00000566586, ENST00000568630, ENST00000570161,	ENST00000313949, ENST00000371075, ENST00000371098, ENST00000371100, ENST00000464624, ENST00000265620, ENST00000306090, ENST00000306120, ENST00000354359, ENST00000371081, ENST00000371085, ENST00000371095, ENST00000371099, ENST00000371102,
Fusion gene scores	* DoF score	17 X 14 X 11=2618	111 X 41 X 18=81918
	# samples	18	111
	** MAII score	log2(18/2618*10)=-3.86239628561557 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: MGA [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MGA(41952723)-GNAS(57470666), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion gene breakpoints across MGA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion 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.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	Non-Cancer	257N	MGA	chr15	41952723	+	GNAS	chr20	57470666	+

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Fusion Gene ORF analysis for MGA-GNAS

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3UTR	ENST00000219905	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000219905	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000219905	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000219905	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000219905	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000389936	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000389936	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000389936	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000389936	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000389936	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000545763	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000545763	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000545763	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000545763	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-3UTR	ENST00000545763	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000219905	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000389936	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
5UTR-intron	ENST00000545763	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000566586	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000566586	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000566586	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000566586	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000566586	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000568630	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000568630	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000568630	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000568630	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000568630	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000570161	ENST00000313949	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000570161	ENST00000371075	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000570161	ENST00000371098	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000570161	ENST00000371100	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-3UTR	ENST00000570161	ENST00000464624	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000566586	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000568630	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000265620	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000306090	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000306120	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000354359	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000371081	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000371085	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000371095	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000371099	MGA	chr15	41952723	+	GNAS	chr20	57470666	+
intron-intron	ENST00000570161	ENST00000371102	MGA	chr15	41952723	+	GNAS	chr20	57470666	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for MGA-GNAS

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 MGA-GNAS

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:41952723/:57470666)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
MGA Q8IWI9	GNAS P63092
FUNCTION: Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor (By similarity). {ECO:0000250}.	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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for MGA-GNAS

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 MGA-GNAS

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for MGA-GNAS

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for MGA-GNAS

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source