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Fusion gene ID: 2586

FusionGeneSummary for ARHGEF4_ECE1

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF4_ECE1
	Fusion gene ID: 2586
		Hgene	Tgene
	Gene symbol	ARHGEF4	ECE1
	Gene ID	50649	1889
	Gene name	Rho guanine nucleotide exchange factor 4	endothelin converting enzyme 1
	Synonyms	ASEF\|ASEF1\|GEF4\|STM6	ECE
	Cytomap	2q21.1	1p36.12
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 4APC-stimulated guanine nucleotide exchange factor 1Rho guanine nucleotide exchange factor (GEF) 4	endothelin-converting enzyme 1ECE-1
	Modification date	20180519	20180519
	UniProtAcc	Q9NR80	P42892
	Ensembl transtripts involved in fusion gene	ENST00000409359, ENST00000326016, ENST00000392953, ENST00000428230, ENST00000525839, ENST00000409303, ENST00000355771, ENST00000439368,	ENST00000415912, ENST00000357071, ENST00000374893, ENST00000436918, ENST00000264205, ENST00000528294,
Fusion gene scores	* DoF score	2 X 2 X 1=4	8 X 10 X 6=480
	# samples	2	13
	** MAII score	log2(2/4*10)=2.32192809488736	log2(13/480*10)=-1.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ARHGEF4 [Title/Abstract] AND ECE1 [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
Tgene	ECE1	GO:0010814	substance P catabolic process	18039931
Tgene	ECE1	GO:0010815	bradykinin catabolic process	18039931
Tgene	ECE1	GO:0010816	calcitonin catabolic process	18039931
Tgene	ECE1	GO:0016485	protein processing	7805846
Tgene	ECE1	GO:0016486	peptide hormone processing	7864876
Tgene	ECE1	GO:0034959	endothelin maturation	7805846
Tgene	ECE1	GO:0042447	hormone catabolic process	7864876

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
ChiTaRS3.1			BF964057	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+

* 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
intron-3UTR	ENST00000409359	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409359	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409359	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409359	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409359	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409359	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-3UTR	ENST00000326016	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000326016	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000326016	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000326016	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000326016	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000326016	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-3UTR	ENST00000392953	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000392953	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000392953	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000392953	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000392953	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000392953	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-3UTR	ENST00000428230	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000428230	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000428230	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000428230	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000428230	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000428230	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-3UTR	ENST00000525839	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000525839	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000525839	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000525839	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000525839	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
3UTR-intron	ENST00000525839	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-3UTR	ENST00000409303	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409303	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409303	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409303	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409303	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000409303	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-3UTR	ENST00000355771	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000355771	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000355771	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000355771	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000355771	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000355771	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-3UTR	ENST00000439368	ENST00000415912	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000439368	ENST00000357071	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000439368	ENST00000374893	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000439368	ENST00000436918	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000439368	ENST00000264205	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+
intron-intron	ENST00000439368	ENST00000528294	ARHGEF4	chr2	131804123	+	ECE1	chr1	21543921	+

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FusionProtFeatures for ARHGEF4_ECE1

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

Hgene	Tgene
ARHGEF4 Q9NR80	ECE1 P42892

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Fusion gene ID: 2586

FusionGeneSummary for ARHGEF4_ECE1

FusionProtFeatures for ARHGEF4_ECE1