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Fusion gene ID: 2518

FusionGeneSummary for ARHGEF12_CNTN5

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF12_CNTN5
	Fusion gene ID: 2518
		Hgene	Tgene
	Gene symbol	ARHGEF12	CNTN5
	Gene ID	23365	53942
	Gene name	Rho guanine nucleotide exchange factor 12	contactin 5
	Synonyms	LARG\|PRO2792	HNB-2s\|NB-2
	Cytomap	11q23.3	11q22.1
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor	contactin-5neural adhesion moleculeneural recognition molecule NB-2
	Modification date	20180519	20180522
	UniProtAcc	Q9NZN5	O94779
	Ensembl transtripts involved in fusion gene	ENST00000397843, ENST00000356641, ENST00000532993,	ENST00000527185, ENST00000528682, ENST00000524871, ENST00000418526, ENST00000279463, ENST00000524560,
Fusion gene scores	* DoF score	11 X 8 X 8=704	16 X 11 X 12=2112
	# samples	14	16
	** MAII score	log2(14/704*10)=-2.33014860169233 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/2112*10)=-3.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ARHGEF12 [Title/Abstract] AND CNTN5 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not 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	ARHGEF12	GO:0007186	G-protein coupled receptor signaling pathway	15755723

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	LUAD	TCGA-55-6642-01A	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
TCGA	LD	LUAD	TCGA-55-6642-01A	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+

* 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	ENST00000397843	ENST00000527185	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000528682	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000524871	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000418526	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000279463	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5CDS-intron	ENST00000397843	ENST00000524560	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-3CDS	ENST00000356641	ENST00000527185	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-3CDS	ENST00000356641	ENST00000528682	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-3CDS	ENST00000356641	ENST00000524871	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-3CDS	ENST00000356641	ENST00000418526	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-3CDS	ENST00000356641	ENST00000279463	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
intron-intron	ENST00000356641	ENST00000524560	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000527185	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000528682	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000524871	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000418526	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000279463	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
5UTR-intron	ENST00000532993	ENST00000524560	ARHGEF12	chr11	120280159	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000527185	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000528682	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000524871	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000418526	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000397843	ENST00000279463	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5CDS-intron	ENST00000397843	ENST00000524560	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000356641	ENST00000527185	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000356641	ENST00000528682	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000356641	ENST00000524871	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000356641	ENST00000418526	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
In-frame	ENST00000356641	ENST00000279463	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5CDS-intron	ENST00000356641	ENST00000524560	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000527185	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000528682	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000524871	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000418526	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-3CDS	ENST00000532993	ENST00000279463	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+
5UTR-intron	ENST00000532993	ENST00000524560	ARHGEF12	chr11	120278532	+	CNTN5	chr11	99786786	+

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FusionProtFeatures for ARHGEF12_CNTN5

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

Hgene	Tgene
ARHGEF12 Q9NZN5	CNTN5 O94779

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Fusion gene ID: 2518

FusionGeneSummary for ARHGEF12_CNTN5

FusionProtFeatures for ARHGEF12_CNTN5