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Fusion gene ID: 14879

FusionGeneSummary for GNAS_HEG1

Fusion gene summary

Fusion gene information	Fusion gene name: GNAS_HEG1
	Fusion gene ID: 14879
		Hgene	Tgene
	Gene symbol	GNAS	HEG1
	Gene ID	2778	57493
	Gene name	GNAS complex locus	heart development protein with EGF like domains 1
	Synonyms	AHO\|C20orf45\|GNAS1\|GPSA\|GSA\|GSP\|NESP\|PITA3\|POH\|SCG6\|SgVI	HEG\|MST112\|MSTP112
	Cytomap	20q13.32	3q21.2
	Type of gene	protein-coding	protein-coding
	Description	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	protein HEG homolog 1HEG homolog 1heart of glass
	Modification date	20180523	20180523
	UniProtAcc	Q5JWF2	Q9ULI3
	Ensembl transtripts involved in fusion gene	ENST00000313949, ENST00000371098, ENST00000371075, ENST00000371100, ENST00000371099, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000371095, ENST00000371085, ENST00000354359, ENST00000265620, ENST00000306090, ENST00000371081,	ENST00000311127, ENST00000477536,
Fusion gene scores	* DoF score	34 X 18 X 17=10404	2 X 2 X 2=8
	# samples	46	3
	** MAII score	log2(46/10404*10)=-4.49936063299862 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/8*10)=1.90689059560852
Context	PubMed: GNAS [Title/Abstract] AND HEG1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain.

* 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 information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	THCA	TCGA-DJ-A13S-01A	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
TCGA	RV	THCA	TCGA-H2-A2K9-01A	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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
In-frame	ENST00000313949	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000313949	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-3CDS	ENST00000371098	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-intron	ENST00000371098	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
In-frame	ENST00000371075	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000371075	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000371100	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000371100	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-3CDS	ENST00000371099	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-intron	ENST00000371099	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000371102	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000371102	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
In-frame	ENST00000464624	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000464624	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-3CDS	ENST00000306120	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-intron	ENST00000306120	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000371095	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000371095	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000371085	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000371085	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000354359	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000354359	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000265620	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000265620	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
Frame-shift	ENST00000306090	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
5CDS-intron	ENST00000306090	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-3CDS	ENST00000371081	ENST00000311127	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-
intron-intron	ENST00000371081	ENST00000477536	GNAS	chr20	57486241	+	HEG1	chr3	124692749	-

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FusionProtFeatures for GNAS_HEG1

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

Hgene	Tgene
GNAS Q5JWF2	HEG1 Q9ULI3

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Fusion gene ID: 14879

FusionGeneSummary for GNAS_HEG1

FusionProtFeatures for GNAS_HEG1