	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

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
Acts as guanine nucleotide exchange factor (GEF) forRHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEFactivity. The APC-ARHGEF4 complex seems to be involved in cellmigration as well as in E-cadherin-mediated cell-cell adhesion.Required for MMP9 up-regulation via the JNK signaling pathway incolorectal tumor cells. Involved in tumor angiogenesis and mayplay a role in intestinal adenoma formation and tumor progression.{ECO:0000269\|PubMed:10947987, ECO:0000269\|PubMed:12598901,ECO:0000269\|PubMed:17145773, ECO:0000269\|PubMed:17599059,ECO:0000269\|PubMed:19893577}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
.

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for ARHGEF4_ECE1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ARHGEF4_ECE1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for ARHGEF4_ECE1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ARHGEF4_ECE1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	ECE1	C0018798	Congenital Heart Defects	2	CTD_human
Tgene	ECE1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
Tgene	ECE1	C0019569	Hirschsprung Disease	1	CTD_human;HPO;ORPHANET
Tgene	ECE1	C0020538	Hypertensive disease	1	CTD_human
Tgene	ECE1	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	ECE1	C1145628	Autonomic nervous system disorders	1	CTD_human;HPO
Tgene	ECE1	C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	1	UNIPROT

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Fusion gene ID: 2586

FusionGeneSummary for ARHGEF4_ECE1

FusionProtFeatures for ARHGEF4_ECE1

FusionGeneSequence for ARHGEF4_ECE1

FusionGenePPI for ARHGEF4_ECE1

RelatedDrugs for ARHGEF4_ECE1

RelatedDiseases for ARHGEF4_ECE1