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	FusionGenePPI
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Fusion gene ID: 2543

FusionGeneSummary for ARHGEF1_CELF2

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF1_CELF2
	Fusion gene ID: 2543
		Hgene	Tgene
	Gene symbol	ARHGEF1	CELF2
	Gene ID	9138	10659
	Gene name	Rho guanine nucleotide exchange factor 1	CUGBP Elav-like family member 2
	Synonyms	GEF1\|LBCL2\|LSC\|P115-RHOGEF\|SUB1.5	BRUNOL3\|CELF-2\|CUG-BP2\|CUGBP2\|ETR-3\|ETR3\|NAPOR
	Cytomap	19q13.2	10p14
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF	CUGBP Elav-like family member 2CUG triplet repeat RNA-binding protein 2CUG-BP- and ETR-3-like factor 2ELAV-type RNA-binding protein 3KDM2B/CELF2 fusionRNA-binding protein BRUNOL-3bruno-like protein 3neuroblastoma apoptosis-related RNA-binding prote
	Modification date	20180519	20180523
	UniProtAcc	Q92888	O95319
	Ensembl transtripts involved in fusion gene	ENST00000354532, ENST00000599846, ENST00000596957, ENST00000347545, ENST00000378152, ENST00000337665,	ENST00000379261, ENST00000416382, ENST00000450189, ENST00000542579, ENST00000399850, ENST00000417956, ENST00000354440, ENST00000427450, ENST00000315874, ENST00000608830, ENST00000609692, ENST00000354897, ENST00000537122,
Fusion gene scores	* DoF score	10 X 9 X 5=450	6 X 7 X 2=84
	# samples	12	7
	** MAII score	log2(12/450*10)=-1.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ARHGEF1 [Title/Abstract] AND CELF2 [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	CELF2	GO:0006376	mRNA splice site selection	11158314

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			BF359809	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-

* 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-intron	ENST00000354532	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000354532	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000599846	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000596957	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000347545	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000378152	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000379261	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000416382	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000450189	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000542579	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000399850	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000417956	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000354440	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000427450	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000315874	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000608830	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000609692	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000354897	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-
intron-intron	ENST00000337665	ENST00000537122	ARHGEF1	chr19	42389292	+	CELF2	chr10	11369186	-

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FusionProtFeatures for ARHGEF1_CELF2

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

Hgene	Tgene
ARHGEF1 Q92888	CELF2 O95319
Seems to play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13)subunits. Acts as GTPase-activating protein (GAP) for GNA12 andGNA13, and as guanine nucleotide exchange factor (GEF) for RhoAGTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activitythrough interaction with the RGS-like domain. This GEF activity isinhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation. {ECO:0000269\|PubMed:20098430,ECO:0000269\|PubMed:8810315, ECO:0000269\|PubMed:9641915,ECO:0000269\|PubMed:9641916}.

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 ARHGEF1_CELF2

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 ARHGEF1_CELF2

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 ARHGEF1_CELF2

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 ARHGEF1_CELF2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	CELF2	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene	CELF2	C0036341	Schizophrenia	1	CTD_human
Tgene	CELF2	C0038325	Stevens-Johnson Syndrome	1	CTD_human

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Fusion gene ID: 2543

FusionGeneSummary for ARHGEF1_CELF2

FusionProtFeatures for ARHGEF1_CELF2

FusionGeneSequence for ARHGEF1_CELF2

FusionGenePPI for ARHGEF1_CELF2

RelatedDrugs for ARHGEF1_CELF2

RelatedDiseases for ARHGEF1_CELF2