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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 2564

FusionGeneSummary for ARHGEF2_SMG5

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF2_SMG5
Fusion gene ID: 2564
HgeneTgene
Gene symbol

ARHGEF2

SMG5

Gene ID

9181

23381

Gene nameRho/Rac guanine nucleotide exchange factor 2SMG5, nonsense mediated mRNA decay factor
SynonymsGEF|GEF-H1|GEFH1|LFP40|NEDMHM|P40EST1B|LPTS-RP1|LPTSRP1|SMG-5
Cytomap

1q22

1q22

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40protein SMG5EST1 telomerase component homolog BEST1-like protein BEst1p-like protein BLPTS interacting proteinever shorter telomeres 1Bsmg-5 homolog, nonsense mediated mRNA decay factor
Modification date2018052220180523
UniProtAcc

Q92974

Q9UPR3

Ensembl transtripts involved in fusion geneENST00000368315, ENST00000313695, 
ENST00000361247, ENST00000368316, 
ENST00000462460, ENST00000477754, 
ENST00000313667, 
ENST00000361813, 
ENST00000368267, ENST00000489907, 
Fusion gene scores* DoF score9 X 8 X 9=6483 X 3 X 2=18
# samples 103
** MAII scorelog2(10/648*10)=-2.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARHGEF2 [Title/Abstract] AND SMG5 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneARHGEF2

GO:0032755

positive regulation of interleukin-6 production

21887730

HgeneARHGEF2

GO:0032760

positive regulation of tumor necrosis factor production

21887730

HgeneARHGEF2

GO:0045666

positive regulation of neuron differentiation

28453519

HgeneARHGEF2

GO:0045944

positive regulation of transcription by RNA polymerase II

21887730

HgeneARHGEF2

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21887730

HgeneARHGEF2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19043560|21887730

HgeneARHGEF2

GO:0055059

asymmetric neuroblast division

28453519

HgeneARHGEF2

GO:0071225

cellular response to muramyl dipeptide

21887730


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-CV-6941-01AARHGEF2chr1

155948156

-SMG5chr1

156244477

-
TCGALDHNSCTCGA-CV-6941-01AARHGEF2chr1

155947858

-SMG5chr1

156244477

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000368315ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000368315ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-intronENST00000368315ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000313695ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000313695ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-intronENST00000313695ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
Frame-shitENST00000361247ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
Frame-shitENST00000361247ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
5CDS-intronENST00000361247ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000368316ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000368316ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-intronENST00000368316ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000462460ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000462460ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-intronENST00000462460ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000477754ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000477754ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-intronENST00000477754ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
Frame-shitENST00000313667ENST00000361813ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
Frame-shitENST00000313667ENST00000368267ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
5CDS-intronENST00000313667ENST00000489907ARHGEF2chr1

155948156

-SMG5chr1

156244477

-
intron-3CDSENST00000368315ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000368315ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000368315ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
5UTR-3CDSENST00000313695ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
5UTR-3CDSENST00000313695ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
5UTR-intronENST00000313695ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000361247ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000361247ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000361247ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000368316ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000368316ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000368316ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000462460ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000462460ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000462460ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000477754ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000477754ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000477754ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000313667ENST00000361813ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-3CDSENST00000313667ENST00000368267ARHGEF2chr1

155947858

-SMG5chr1

156244477

-
intron-intronENST00000313667ENST00000489907ARHGEF2chr1

155947858

-SMG5chr1

156244477

-

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FusionProtFeatures for ARHGEF2_SMG5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF2

Q92974

SMG5

Q9UPR3

Activates Rho-GTPases by promoting the exchange of GDPfor GTP. May be involved in epithelial barrier permeability, cellmotility and polarization, dendritic spine morphology, antigenpresentation, leukemic cell differentiation, cell cycleregulation, innate immune response, and cancer. Binds Rac-GTPases,but does not seem to promote nucleotide exchange activity towardRac-GTPases, which was uniquely reported in PubMed:9857026. Maystimulate instead the cortical activity of Rac. Inactive towardCDC42, TC10, or Ras-GTPases. Forms an intracellular sensing systemalong with NOD1 for the detection of microbial effectors duringcell invasion by pathogens. Required for RHOA and RIP2 dependentNF-kappaB signaling pathways activation upon S.flexneri cellinvasion. Involved not only in sensing peptidoglycan (PGN)-derivedmuropeptides through NOD1 that is independent of its GEF activity,but also in the activation of NF-kappaB by Shigella effectorproteins (IpgB2 and OspB) which requires its GEF activity and theactivation of RhoA. Involved in innate immune signalingtransduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterialpeptidoglycans; acts as a signaling intermediate between NOD2receptor and RIPK2 kinase. Contributes to the tyrosinephosphorylation of RIPK2 through Src tyrosine kinase leading toNF-kappaB activation by NOD2. Overexpression activates Rho-, butnot Rac-GTPases, and increases paracellular permeability (Bysimilarity). Involved in neuronal progenitor cell division anddifferentiation (PubMed:28453519). Involved in the migration ofprecerebellar neurons (By similarity).{ECO:0000250|UniProtKB:Q60875, ECO:0000250|UniProtKB:Q865S3,ECO:0000269|PubMed:19043560, ECO:0000269|PubMed:21887730,ECO:0000269|PubMed:28453519, ECO:0000269|PubMed:9857026}. Plays a role in nonsense-mediated mRNA decay. Does nothave RNase activity by itself. Promotes dephosphorylation of UPF1.Together with SMG7 is thought to provide a link to the mRNAdegradation machinery involving exonucleolytic pathways, and toserve as an adapter for UPF1 to protein phosphatase 2A (PP2A),thereby triggering UPF1 dephosphorylation. Necessary for TERTactivity. {ECO:0000269|PubMed:17053788}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ARHGEF2_SMG5


check button 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 ARHGEF2_SMG5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ARHGEF2MYC, PAK1, YWHAQ, RAC1, RHOA, PLCG1, MARK2, TAF10, MAPK1, YWHAG, MARK4, YWHAH, ELAVL1, USP21, YWHAZ, NOTCH1, VCP, PEX14, MMS19, FBXO6, ANKRD28, PPP6C, PPP6R1, YWHAB, RPA3, RPA2, RPA1, CEP250, RPP25L, MOV10, NXF1, CCDC8, EGFR, WDR83, FGL1, NTRK1, COPS7A, KLC2, PRDX1, PSME3, CEP170, CNTRL, SCLT1, DCTN1, PPP2R1A, FOXO3, SNW1, CDC5L, PPP2CA, PPP2CB, PAK7, UBE2ASMG5TERT, HDAC8, STUB1, APP, UPF1, ZWINT, PHB, RBM8A, MOV10, NXF1, SMG6, BTRC, PCM1, CEP152, TP53, C6orf141


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ARHGEF2_SMG5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ARHGEF2_SMG5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource