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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: 29240

FusionGeneSummary for PSPC1_ARHGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: PSPC1_ARHGEF2
Fusion gene ID: 29240
HgeneTgene
Gene symbol

PSPC1

ARHGEF2

Gene ID

55269

9181

Gene nameparaspeckle component 1Rho/Rac guanine nucleotide exchange factor 2
SynonymsPSP1GEF|GEF-H1|GEFH1|LFP40|NEDMHM|P40
Cytomap

13q12.11

1q22

Type of geneprotein-codingprotein-coding
Descriptionparaspeckle component 1paraspeckle protein 1rho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40
Modification date2018052520180522
UniProtAcc

Q8WXF1

Q92974

Ensembl transtripts involved in fusion geneENST00000338910, ENST00000497722, 
ENST00000368315, ENST00000313695, 
ENST00000361247, ENST00000368316, 
ENST00000462460, ENST00000477754, 
ENST00000313667, 
Fusion gene scores* DoF score4 X 4 X 4=645 X 8 X 7=280
# samples 511
** MAII scorelog2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/280*10)=-1.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSPC1 [Title/Abstract] AND ARHGEF2 [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
HgenePSPC1

GO:0002218

activation of innate immune response

28712728

TgeneARHGEF2

GO:0032755

positive regulation of interleukin-6 production

21887730

TgeneARHGEF2

GO:0032760

positive regulation of tumor necrosis factor production

21887730

TgeneARHGEF2

GO:0045666

positive regulation of neuron differentiation

28453519

TgeneARHGEF2

GO:0045944

positive regulation of transcription by RNA polymerase II

21887730

TgeneARHGEF2

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21887730

TgeneARHGEF2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19043560|21887730

TgeneARHGEF2

GO:0055059

asymmetric neuroblast division

28453519

TgeneARHGEF2

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
TCGARVBRCATCGA-LL-A73Y-01APSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
* 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
5CDS-intronENST00000338910ENST00000368315PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-intronENST00000338910ENST00000313695PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-intronENST00000338910ENST00000361247PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-5UTRENST00000338910ENST00000368316PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-5UTRENST00000338910ENST00000462460PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-intronENST00000338910ENST00000477754PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
5CDS-intronENST00000338910ENST00000313667PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-intronENST00000497722ENST00000368315PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-intronENST00000497722ENST00000313695PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-intronENST00000497722ENST00000361247PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-5UTRENST00000497722ENST00000368316PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-5UTRENST00000497722ENST00000462460PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-intronENST00000497722ENST00000477754PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-
intron-intronENST00000497722ENST00000313667PSPC1chr13

20333463

-ARHGEF2chr1

155959142

-

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FusionProtFeatures for PSPC1_ARHGEF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSPC1

Q8WXF1

ARHGEF2

Q92974

Regulates, cooperatively with NONO and SFPQ, androgenreceptor-mediated gene transcription activity in Sertoli cell line(By similarity). Binds to poly(A), poly(G) and poly(U) RNAhomopolymers. Regulates the circadian clock by repressing thetranscriptional activator activity of the CLOCK-ARNTL/BMAL1heterodimer (By similarity). Together with NONO, required for theformation of nuclear paraspeckles. Plays a role in the regulationof DNA virus-mediated innate immune response by assembling intothe HDP-RNP complex, a complex that serves as a platform for IRF3phosphorylation and subsequent innate immune response activationthrough the cGAS-STING pathway. {ECO:0000250|UniProtKB:Q8R326,ECO:0000269|PubMed:22416126, ECO:0000269|PubMed:28712728}. 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}.

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 PSPC1_ARHGEF2


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 PSPC1_ARHGEF2


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
PSPC1AR, LRIF1, NONO, TADA2A, AGO3, RAD21, NR2C1, CUL3, SMAD2, SMAD3, RANBP17, TNN, TCERG1, WBP4, FUS, KRT31, KRTAP13-1, CUL7, OBSL1, EED, BMI1, EGFR, ESR1, ORC6, CEP170, TRPV5, RPS6KB2, DNAJB4, EIF4H, HIP1R, LZTFL1, PPP5C, U2AF2, TATDN1, WDR12, NTRK1, SCARNA22, IFI16, SFPQ, CCDC22, STYX, CD2BP2, DLD, PDHA1ARHGEF2MYC, 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, UBE2A


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 PSPC1_ARHGEF2


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 PSPC1_ARHGEF2


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