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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:ESR1-GNAS (FusionGDB2 ID:HG2099TG2778)

Fusion Gene Summary for ESR1-GNAS

Fusion gene summary

Fusion gene information	Fusion gene name: ESR1-GNAS
	Fusion gene ID: hg2099tg2778
		Hgene	Tgene
	Gene symbol	ESR1	GNAS
	Gene ID	2099	2778
	Gene name	estrogen receptor 1	GNAS complex locus
	Synonyms	ER\|ESR\|ESRA\|ESTRR\|Era\|NR3A1	AHO\|C20orf45\|GNAS1\|GPSA\|GSA\|GSP\|NESP\|PITA3\|POH\|SCG6\|SgVI
	Cytomap	('ESR1')('GNAS') 6q25.1-q25.2	20q13.32
	Type of gene	protein-coding	protein-coding
	Description	estrogen receptorE2 receptor alphaER-alphaestradiol receptorestrogen nuclear receptor alphaestrogen receptor alpha E1-E2-1-2estrogen receptor alpha E1-N2-E2-1-2nuclear receptor subfamily 3 group A member 1oestrogen receptor alpha	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	20200329	20200329
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000206249, ENST00000338799, ENST00000427531, ENST00000440973, ENST00000443427, ENST00000456483, ENST00000406599, ENST00000482101,
Fusion gene scores	* DoF score	21 X 18 X 8=3024	111 X 41 X 18=81918
	# samples	35	111
	** MAII score	log2(35/3024*10)=-3.11103131238874 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: ESR1 [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ESR1(152163922)-GNAS(57470667), # 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)

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
Hgene	ESR1	GO:0006366	transcription by RNA polymerase II	15831516
Hgene	ESR1	GO:0010629	negative regulation of gene expression	21695196
Hgene	ESR1	GO:0030520	intracellular estrogen receptor signaling pathway	9841876
Hgene	ESR1	GO:0032355	response to estradiol	15304487
Hgene	ESR1	GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	7651415\|16043358
Hgene	ESR1	GO:0043433	negative regulation of DNA-binding transcription factor activity	10816575
Hgene	ESR1	GO:0043627	response to estrogen	11581164
Hgene	ESR1	GO:0045893	positive regulation of transcription, DNA-templated	9841876\|20074560
Hgene	ESR1	GO:0045899	positive regulation of RNA polymerase II transcriptional preinitiation complex assembly	9841876
Hgene	ESR1	GO:0045944	positive regulation of transcription by RNA polymerase II	11544182\|12047722\|15345745\|15831516\|18563714
Hgene	ESR1	GO:0051091	positive regulation of DNA-binding transcription factor activity	9328340\|10681512
Hgene	ESR1	GO:0071392	cellular response to estradiol stimulus	15831516

Fusion gene information
* 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	BRCA	TCGA-A7-A0D9-01A	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+

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Fusion Gene ORF analysis for ESR1-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
5CDS-3UTR	ENST00000206249	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000206249	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000206249	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000206249	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000206249	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000338799	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000338799	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000338799	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000338799	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000338799	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000427531	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000427531	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000427531	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000427531	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000427531	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000440973	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000440973	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000440973	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000440973	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000440973	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000443427	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000443427	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000443427	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000443427	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000443427	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000456483	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000456483	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000456483	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000456483	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-3UTR	ENST00000456483	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000206249	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000338799	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000427531	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000440973	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000443427	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
5CDS-intron	ENST00000456483	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000406599	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000406599	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000406599	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000406599	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000406599	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000482101	ENST00000313949	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000482101	ENST00000371075	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000482101	ENST00000371098	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000482101	ENST00000371100	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-3UTR	ENST00000482101	ENST00000464624	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000406599	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000265620	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000306090	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000306120	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000354359	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000371081	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000371085	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000371095	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000371099	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+
intron-intron	ENST00000482101	ENST00000371102	ESR1	chr6	152163922	+	GNAS	chr20	57470667	+

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 ESR1-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)
ESR1	chr6	152163922	+	GNAS	chr20	57470666	+	7.57E-08	0.9999999
ESR1	chr6	152163922	+	GNAS	chr20	57470666	+	7.57E-08	0.9999999

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 ESR1-GNAS

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:152163922/: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.

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

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ESR1-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 ESR1-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

Top

Related Drugs for ESR1-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 ESR1-GNAS

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ESR1	C0006142	Malignant neoplasm of breast	14	CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	ESR1	C0678222	Breast Carcinoma	14	CGI;CTD_human
Hgene	ESR1	C1257931	Mammary Neoplasms, Human	14	CTD_human
Hgene	ESR1	C1458155	Mammary Neoplasms	14	CTD_human
Hgene	ESR1	C4704874	Mammary Carcinoma, Human	14	CTD_human
Hgene	ESR1	C0005586	Bipolar Disorder	5	PSYGENET
Hgene	ESR1	C0011570	Mental Depression	5	PSYGENET
Hgene	ESR1	C0011581	Depressive disorder	5	PSYGENET
Hgene	ESR1	C0036341	Schizophrenia	5	PSYGENET
Hgene	ESR1	C0525045	Mood Disorders	4	PSYGENET
Hgene	ESR1	C3809250	ESTROGEN RESISTANCE	3	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	ESR1	C0001418	Adenocarcinoma	2	CTD_human
Hgene	ESR1	C0007097	Carcinoma	2	CTD_human
Hgene	ESR1	C0007621	Neoplastic Cell Transformation	2	CTD_human
Hgene	ESR1	C0010054	Coronary Arteriosclerosis	2	CTD_human
Hgene	ESR1	C0021364	Male infertility	2	CTD_human
Hgene	ESR1	C0024121	Lung Neoplasms	2	CTD_human
Hgene	ESR1	C0024667	Animal Mammary Neoplasms	2	CTD_human
Hgene	ESR1	C0025500	Mesothelioma	2	CTD_human
Hgene	ESR1	C0027626	Neoplasm Invasiveness	2	CTD_human
Hgene	ESR1	C0033578	Prostatic Neoplasms	2	CTD_human
Hgene	ESR1	C0205641	Adenocarcinoma, Basal Cell	2	CTD_human
Hgene	ESR1	C0205642	Adenocarcinoma, Oxyphilic	2	CTD_human
Hgene	ESR1	C0205643	Carcinoma, Cribriform	2	CTD_human
Hgene	ESR1	C0205644	Carcinoma, Granular Cell	2	CTD_human
Hgene	ESR1	C0205645	Adenocarcinoma, Tubular	2	CTD_human
Hgene	ESR1	C0205696	Anaplastic carcinoma	2	CTD_human
Hgene	ESR1	C0205697	Carcinoma, Spindle-Cell	2	CTD_human
Hgene	ESR1	C0205698	Undifferentiated carcinoma	2	CTD_human
Hgene	ESR1	C0205699	Carcinomatosis	2	CTD_human
Hgene	ESR1	C0242379	Malignant neoplasm of lung	2	CTD_human
Hgene	ESR1	C0376358	Malignant neoplasm of prostate	2	CTD_human
Hgene	ESR1	C0848676	Subfertility, Male	2	CTD_human
Hgene	ESR1	C0917731	Male sterility	2	CTD_human
Hgene	ESR1	C1257925	Mammary Carcinoma, Animal	2	CTD_human
Hgene	ESR1	C1956346	Coronary Artery Disease	2	CTD_human
Hgene	ESR1	C2239176	Liver carcinoma	2	CTD_human
Hgene	ESR1	C0002395	Alzheimer's Disease	1	CTD_human
Hgene	ESR1	C0004114	Astrocytoma	1	CTD_human
Hgene	ESR1	C0004153	Atherosclerosis	1	CTD_human
Hgene	ESR1	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
Hgene	ESR1	C0005695	Bladder Neoplasm	1	CTD_human
Hgene	ESR1	C0005940	Bone Diseases	1	CTD_human
Hgene	ESR1	C0005944	Metabolic Bone Disorder	1	CTD_human
Hgene	ESR1	C0007852	Cervical Migraine Syndrome	1	CTD_human
Hgene	ESR1	C0011265	Presenile dementia	1	CTD_human
Hgene	ESR1	C0014170	Endometrial Neoplasms	1	CTD_human
Hgene	ESR1	C0017658	Glomerulonephritis	1	CTD_human
Hgene	ESR1	C0018984	Hemicrania migraine	1	CTD_human
Hgene	ESR1	C0021361	Female infertility	1	CTD_human
Hgene	ESR1	C0023267	Fibroid Tumor	1	CTD_human
Hgene	ESR1	C0023418	leukemia	1	CTD_human
Hgene	ESR1	C0023903	Liver neoplasms	1	CTD_human
Hgene	ESR1	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Hgene	ESR1	C0024809	Marijuana Abuse	1	PSYGENET
Hgene	ESR1	C0026858	Musculoskeletal Pain	1	CTD_human
Hgene	ESR1	C0027051	Myocardial Infarction	1	CTD_human
Hgene	ESR1	C0027627	Neoplasm Metastasis	1	CTD_human
Hgene	ESR1	C0027643	Neoplasm Recurrence, Local	1	CTD_human
Hgene	ESR1	C0027819	Neuroblastoma	1	CTD_human
Hgene	ESR1	C0028754	Obesity	1	CTD_human
Hgene	ESR1	C0028960	Oligospermia	1	CTD_human
Hgene	ESR1	C0029453	Osteopenia	1	CTD_human
Hgene	ESR1	C0033937	Psychoses, Drug	1	CTD_human
Hgene	ESR1	C0033941	Psychoses, Substance-Induced	1	CTD_human
Hgene	ESR1	C0036939	Shared Paranoid Disorder	1	PSYGENET
Hgene	ESR1	C0038279	Sterility, Postpartum	1	CTD_human
Hgene	ESR1	C0042133	Uterine Fibroids	1	CTD_human
Hgene	ESR1	C0149931	Migraine Disorders	1	CTD_human
Hgene	ESR1	C0205768	Subependymal Giant Cell Astrocytoma	1	CTD_human
Hgene	ESR1	C0235874	Disease Exacerbation	1	CTD_human
Hgene	ESR1	C0270858	Abdominal Migraine	1	CTD_human
Hgene	ESR1	C0276496	Familial Alzheimer Disease (FAD)	1	CTD_human
Hgene	ESR1	C0280783	Juvenile Pilocytic Astrocytoma	1	CTD_human
Hgene	ESR1	C0280785	Diffuse Astrocytoma	1	CTD_human
Hgene	ESR1	C0282612	Prostatic Intraepithelial Neoplasias	1	CTD_human
Hgene	ESR1	C0334579	Anaplastic astrocytoma	1	CTD_human
Hgene	ESR1	C0334580	Protoplasmic astrocytoma	1	CTD_human
Hgene	ESR1	C0334581	Gemistocytic astrocytoma	1	CTD_human
Hgene	ESR1	C0334582	Fibrillary Astrocytoma	1	CTD_human
Hgene	ESR1	C0334583	Pilocytic Astrocytoma	1	CTD_human
Hgene	ESR1	C0338070	Childhood Cerebral Astrocytoma	1	CTD_human
Hgene	ESR1	C0338489	Status Migrainosus	1	CTD_human
Hgene	ESR1	C0341869	Subfertility, Female	1	CTD_human
Hgene	ESR1	C0345904	Malignant neoplasm of liver	1	CTD_human
Hgene	ESR1	C0476089	Endometrial Carcinoma	1	CGI;CTD_human
Hgene	ESR1	C0494463	Alzheimer Disease, Late Onset	1	CTD_human
Hgene	ESR1	C0521664	Acute Confusional Migraine	1	CTD_human
Hgene	ESR1	C0546126	Acute Confusional Senile Dementia	1	CTD_human
Hgene	ESR1	C0547065	Mixed oligoastrocytoma	1	CTD_human
Hgene	ESR1	C0700438	Sick Headaches	1	CTD_human
Hgene	ESR1	C0750900	Alzheimer's Disease, Focal Onset	1	CTD_human
Hgene	ESR1	C0750901	Alzheimer Disease, Early Onset	1	CTD_human
Hgene	ESR1	C0750935	Cerebral Astrocytoma	1	CTD_human
Hgene	ESR1	C0750936	Intracranial Astrocytoma	1	CTD_human
Hgene	ESR1	C0917730	Female sterility	1	CTD_human
Hgene	ESR1	C1563937	Atherogenesis	1	CTD_human
Hgene	ESR1	C1704230	Grade I Astrocytoma	1	CTD_human
Hgene	ESR1	C1704377	Bright Disease	1	CTD_human
Hgene	ESR1	C1720887	Female Urogenital Diseases	1	CTD_human
Hgene	ESR1	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human
Hgene	ESR1	C4721508	Hamman-Rich Disease	1	CTD_human
Hgene	ESR1	C4721509	Usual Interstitial Pneumonia	1	CTD_human
Hgene	ESR1	C4721952	Familial Idiopathic Pulmonary Fibrosis	1	CTD_human
Tgene		C3494506	Pseudohypoparathyroidism, Type Ia	17	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0242292	McCune-Albright Syndrome	7	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0016065	Polyostotic fibrous dysplasia	5	CTD_human;ORPHANET
Tgene		C1864100	PSEUDOHYPOPARATHYROIDISM, TYPE IB	5	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C2931404	Albright's hereditary osteodystrophy	4	CTD_human;GENOMICS_ENGLAND
Tgene		C0033806	Pseudohypoparathyroidism	3	CTD_human
Tgene		C0334041	Osteoma cutis	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0014130	Endocrine System Diseases	2	CTD_human
Tgene		C0016064	Fibrous Dysplasia, Monostotic	2	ORPHANET
Tgene		C0034013	Precocious Puberty	2	CTD_human
Tgene		C0221263	Cafe-au-Lait Spots	2	CTD_human
Tgene		C0271527	Cryptogenic sexual precocity	2	CTD_human
Tgene		C0342543	Central Precocious Puberty	2	CTD_human
Tgene		C1504412	Testotoxicosis	2	CTD_human
Tgene		C1857451	Acth-Independent Macronodular Adrenal Hyperplasia	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C2932716	Pseudohypoparathyroidism Type 1C	2	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0001206	Acromegaly	1	CTD_human
Tgene		C0001624	Adrenal Gland Neoplasms	1	CTD_human
Tgene		C0003129	Anoxemia	1	CTD_human
Tgene		C0003130	Anoxia	1	CTD_human
Tgene		C0008370	Cholestasis	1	GENOMICS_ENGLAND
Tgene		C0009438	Common Bile Duct Calculi	1	CTD_human
Tgene		C0011573	Endogenous depression	1	PSYGENET
Tgene		C0019087	Hemorrhagic Disorders	1	CTD_human
Tgene		C0020538	Hypertensive disease	1	CTD_human
Tgene		C0020796	Profound Mental Retardation	1	CTD_human
Tgene		C0021655	Insulin Resistance	1	CTD_human
Tgene		C0023897	Liver Diseases, Parasitic	1	CTD_human
Tgene		C0025363	Mental Retardation, Psychosocial	1	CTD_human
Tgene		C0027819	Neuroblastoma	1	CTD_human
Tgene		C0028754	Obesity	1	CTD_human
Tgene		C0029396	Heterotopic Ossification	1	CTD_human
Tgene		C0032460	Polycystic Ovary Syndrome	1	CTD_human
Tgene		C0033835	Pseudopseudohypoparathyroidism	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C0035204	Respiration Disorders	1	CTD_human
Tgene		C0036341	Schizophrenia	1	PSYGENET
Tgene		C0038587	Substance Withdrawal Syndrome	1	CTD_human
Tgene		C0039231	Tachycardia	1	CTD_human
Tgene		C0080203	Tachyarrhythmia	1	CTD_human
Tgene		C0086189	Drug Withdrawal Symptoms	1	CTD_human
Tgene		C0087169	Withdrawal Symptoms	1	CTD_human
Tgene		C0206698	Cholangiocarcinoma	1	CTD_human
Tgene		C0221357	Brachydactyly	1	CTD_human
Tgene		C0242184	Hypoxia	1	CTD_human
Tgene		C0242216	Biliary calculi	1	CTD_human
Tgene		C0345905	Intrahepatic Cholangiocarcinoma	1	CTD_human
Tgene		C0346302	Growth Hormone-Secreting Pituitary Adenoma	1	CTD_human
Tgene		C0700292	Hypoxemia	1	CTD_human
Tgene		C0750887	Adrenal Cancer	1	CTD_human
Tgene		C0917816	Mental deficiency	1	CTD_human
Tgene		C0920563	Insulin Sensitivity	1	CTD_human
Tgene		C1136382	Sclerocystic Ovaries	1	CTD_human
Tgene		C2932715	Pseudohypoparathyroidism Type 1B	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C3489630	Somatotrophinoma, Familial	1	CTD_human
Tgene		C3697137	Fibrous dysplasia of bone with intramuscular myxoma	1	ORPHANET
Tgene		C3714756	Intellectual Disability	1	CTD_human
Tgene		C3805278	Extrahepatic Cholangiocarcinoma	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:ESR1-GNAS (FusionGDB2 ID:HG2099TG2778)

Fusion Gene Summary for ESR1-GNAS

Fusion Gene ORF analysis for ESR1-GNAS

Fusion Genomic Features for ESR1-GNAS

Fusion Protein Features for ESR1-GNAS

Fusion Gene Sequence for ESR1-GNAS

Fusion Gene PPI Analysis for ESR1-GNAS

Related Drugs for ESR1-GNAS

Related Diseases for ESR1-GNAS

Fusion Gene Studies
in Kim Lab