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Fusion gene ID: 3304

FusionGeneSummary for ATP1A1_VANGL1

Fusion gene summary

Fusion gene information	Fusion gene name: ATP1A1_VANGL1
	Fusion gene ID: 3304
		Hgene	Tgene
	Gene symbol	ATP1A1	VANGL1
	Gene ID	480	81839
	Gene name	ATPase Na+/K+ transporting subunit alpha 4	VANGL planar cell polarity protein 1
	Synonyms	ATP1A1\|ATP1AL2	KITENIN\|LPP2\|STB2\|STBM2
	Cytomap	1q23.2	1p13.1
	Type of gene	protein-coding	protein-coding
	Description	sodium/potassium-transporting ATPase subunit alpha-4ATPase, Na+/K+ transporting, alpha 4 polypeptideATPase, Na+/K+ transporting, alpha polypeptide-like 2Na(+)/K(+) ATPase alpha-4 subunitNa+/K+ ATPase 4Na+/K+ ATPase, alpha-D polypeptideNa,K-ATPase su	vang-like protein 1KAI1 C-terminal interacting tetraspaninloop-tail protein 2 homologstrabismus 2van Gogh-like protein 1vang-like 1 (van gogh, Drosophila)
	Modification date	20180523	20180519
	UniProtAcc	P05023	Q8TAA9
	Ensembl transtripts involved in fusion gene	ENST00000295598, ENST00000537345, ENST00000369496, ENST00000491156,	ENST00000355485, ENST00000369510, ENST00000310260, ENST00000369509, ENST00000474344,
Fusion gene scores	* DoF score	15 X 20 X 7=2100	6 X 5 X 4=120
	# samples	25	6
	** MAII score	log2(25/2100*10)=-3.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ATP1A1 [Title/Abstract] AND VANGL1 [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
Hgene	ATP1A1	GO:0030317	flagellated sperm motility	12112599
Hgene	ATP1A1	GO:0030641	regulation of cellular pH	12112599

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	BRCA	TCGA-E2-A15A-01A	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+

* 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	ENST00000295598	ENST00000355485	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
In-frame	ENST00000295598	ENST00000369510	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
In-frame	ENST00000295598	ENST00000310260	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
In-frame	ENST00000295598	ENST00000369509	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
5CDS-intron	ENST00000295598	ENST00000474344	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000537345	ENST00000355485	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000537345	ENST00000369510	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000537345	ENST00000310260	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000537345	ENST00000369509	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-intron	ENST00000537345	ENST00000474344	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000369496	ENST00000355485	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000369496	ENST00000369510	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000369496	ENST00000310260	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000369496	ENST00000369509	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-intron	ENST00000369496	ENST00000474344	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000491156	ENST00000355485	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000491156	ENST00000369510	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000491156	ENST00000310260	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-3CDS	ENST00000491156	ENST00000369509	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+
intron-intron	ENST00000491156	ENST00000474344	ATP1A1	chr1	116916145	+	VANGL1	chr1	116206282	+

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FusionProtFeatures for ATP1A1_VANGL1

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

Hgene	Tgene
ATP1A1 P05023	VANGL1 Q8TAA9

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Fusion gene ID: 3304

FusionGeneSummary for ATP1A1_VANGL1

FusionProtFeatures for ATP1A1_VANGL1