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Fusion gene ID: 14885

FusionGeneSummary for GNAS_PSAP

Fusion gene summary

Fusion gene information	Fusion gene name: GNAS_PSAP
	Fusion gene ID: 14885
		Hgene	Tgene
	Gene symbol	GNAS	PSAP
	Gene ID	2778	729238
	Gene name	GNAS complex locus	surfactant protein A2
	Synonyms	AHO\|C20orf45\|GNAS1\|GPSA\|GSA\|GSP\|NESP\|PITA3\|POH\|SCG6\|SgVI	COLEC5\|PSAP\|PSP-A\|PSPA\|SFTP1\|SFTPA2B\|SP-2A\|SP-A\|SPA2\|SPAII
	Cytomap	20q13.32	10q22.3
	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	pulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2A
	Modification date	20180523	20180523
	UniProtAcc	Q5JWF2	P07602
	Ensembl transtripts involved in fusion gene	ENST00000313949, ENST00000371098, ENST00000371075, ENST00000371100, ENST00000371099, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000371095, ENST00000371085, ENST00000354359, ENST00000265620, ENST00000306090, ENST00000371081,	ENST00000394936, ENST00000394934,
Fusion gene scores	* DoF score	34 X 18 X 17=10404	12 X 17 X 4=816
	# samples	46	18
	** MAII score	log2(46/10404*10)=-4.49936063299862 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/816*10)=-2.18057224564182 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GNAS [Title/Abstract] AND PSAP [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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	ACC	TCGA-OR-A5JG-01A	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-

* 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
Frame-shift	ENST00000313949	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
Frame-shift	ENST00000313949	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371098	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371098	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
Frame-shift	ENST00000371075	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
Frame-shift	ENST00000371075	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371100	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371100	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371099	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371099	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371102	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371102	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
Frame-shift	ENST00000464624	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
Frame-shift	ENST00000464624	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000306120	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000306120	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371095	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371095	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371085	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000371085	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000354359	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000354359	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000265620	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000265620	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000306090	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
In-frame	ENST00000306090	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371081	ENST00000394936	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-
intron-3CDS	ENST00000371081	ENST00000394934	GNAS	chr20	57486241	+	PSAP	chr10	73579657	-

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FusionProtFeatures for GNAS_PSAP

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

Hgene	Tgene
GNAS Q5JWF2	PSAP P07602

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Fusion gene ID: 14885

FusionGeneSummary for GNAS_PSAP

FusionProtFeatures for GNAS_PSAP