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Fusion gene ID: 12511

FusionGeneSummary for FAM120A_WNK2

Fusion gene summary

Fusion gene information	Fusion gene name: FAM120A_WNK2
	Fusion gene ID: 12511
		Hgene	Tgene
	Gene symbol	FAM120A	WNK2
	Gene ID	23196	65268
	Gene name	family with sequence similarity 120A	WNK lysine deficient protein kinase 2
	Synonyms	C9orf10\|HBVPTPAP\|OSSA	NY-CO-43\|P/OKcl.13\|PRKWNK2\|SDCCAG43
	Cytomap	9q22.31	9q22.31
	Type of gene	protein-coding	protein-coding
	Description	constitutive coactivator of PPAR-gamma-like protein 1oxidative stess-associated Src activatoroxidative stress-associated Src activator	serine/threonine-protein kinase WNK2antigen NY-CO-43mitogen-activated protein kinase kinase kinaseprotein kinase lysine-deficient 2protein kinase with no lysine 2serologically defined colon cancer antigen 43
	Modification date	20180523	20180523
	UniProtAcc	Q9NZB2	Q9Y3S1
	Ensembl transtripts involved in fusion gene	ENST00000277165, ENST00000375389, ENST00000340893, ENST00000333936, ENST00000475933,	ENST00000427277, ENST00000297954, ENST00000395475, ENST00000356055, ENST00000349097, ENST00000395477, ENST00000471076,
Fusion gene scores	* DoF score	6 X 6 X 3=108	7 X 7 X 7=343
	# samples	6	7
	** MAII score	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/343*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FAM120A [Title/Abstract] AND WNK2 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. Kinase involved fusion gene, inframe and retained kinase 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
Tgene	WNK2	GO:0006468	protein phosphorylation	21733846
Tgene	WNK2	GO:0046777	protein autophosphorylation	17667937

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	STAD	TCGA-HU-A4GH-01A	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+

* 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	ENST00000277165	ENST00000427277	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000277165	ENST00000297954	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-3UTR	ENST00000277165	ENST00000395475	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000277165	ENST00000356055	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000277165	ENST00000349097	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000277165	ENST00000395477	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-intron	ENST00000277165	ENST00000471076	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000375389	ENST00000427277	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000375389	ENST00000297954	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-3UTR	ENST00000375389	ENST00000395475	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000375389	ENST00000356055	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000375389	ENST00000349097	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000375389	ENST00000395477	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-intron	ENST00000375389	ENST00000471076	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000340893	ENST00000427277	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000340893	ENST00000297954	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-3UTR	ENST00000340893	ENST00000395475	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000340893	ENST00000356055	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000340893	ENST00000349097	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000340893	ENST00000395477	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-intron	ENST00000340893	ENST00000471076	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000333936	ENST00000427277	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
In-frame	ENST00000333936	ENST00000297954	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-3UTR	ENST00000333936	ENST00000395475	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000333936	ENST00000356055	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000333936	ENST00000349097	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-5UTR	ENST00000333936	ENST00000395477	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
5CDS-intron	ENST00000333936	ENST00000471076	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-3CDS	ENST00000475933	ENST00000427277	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-3CDS	ENST00000475933	ENST00000297954	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-3UTR	ENST00000475933	ENST00000395475	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-5UTR	ENST00000475933	ENST00000356055	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-5UTR	ENST00000475933	ENST00000349097	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-5UTR	ENST00000475933	ENST00000395477	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+
intron-intron	ENST00000475933	ENST00000471076	FAM120A	chr9	96261168	+	WNK2	chr9	96030909	+

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FusionProtFeatures for FAM120A_WNK2

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

Hgene	Tgene
FAM120A Q9NZB2	WNK2 Q9Y3S1

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Fusion gene ID: 12511

FusionGeneSummary for FAM120A_WNK2

FusionProtFeatures for FAM120A_WNK2