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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: 28088

FusionGeneSummary for PPARD_ARHGEF1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARD_ARHGEF1
Fusion gene ID: 28088
HgeneTgene
Gene symbol

PPARD

ARHGEF1

Gene ID

5467

9138

Gene nameperoxisome proliferator activated receptor deltaRho guanine nucleotide exchange factor 1
SynonymsFAAR|NR1C2|NUC1|NUCI|NUCII|PPARBGEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5
Cytomap

6p21.31

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionperoxisome proliferator-activated receptor deltaPPAR-betaPPAR-deltaPPARD/MYO1D fusionnuclear hormone receptor 1nuclear receptor subfamily 1 group C member 2peroxisome proliferator-activated receptor betarho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF
Modification date2018052320180519
UniProtAcc

Q03181

Q92888

Ensembl transtripts involved in fusion geneENST00000444397, ENST00000360694, 
ENST00000418635, ENST00000448077, 
ENST00000337400, ENST00000311565, 
ENST00000540939, 		ENST00000354532, 
ENST00000599846, ENST00000596957, 
ENST00000347545, ENST00000378152, 
ENST00000337665, 
Fusion gene scores* DoF score9 X 5 X 6=2704 X 4 X 1=16
# samples 94
** MAII scorelog2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPARD [Title/Abstract] AND ARHGEF1 [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
HgenePPARD

GO:0045893

positive regulation of transcription, DNA-templated

12955147


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
ChiTaRS3.1AK090448PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
* 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-5UTRENST00000444397ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000444397ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000444397ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000444397ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000444397ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000444397ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000360694ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000360694ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000360694ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000360694ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000360694ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000360694ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000418635ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000418635ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000418635ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000418635ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000418635ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000418635ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000448077ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000448077ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000448077ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000448077ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000448077ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000448077ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000337400ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000337400ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000337400ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000337400ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000337400ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000337400ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000311565ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000311565ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000311565ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000311565ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000311565ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000311565ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000540939ENST00000354532PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-5UTRENST00000540939ENST00000599846PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000540939ENST00000596957PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000540939ENST00000347545PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000540939ENST00000378152PPARDchr6

35382834

-ARHGEF1chr19

42387266

+
intron-intronENST00000540939ENST00000337665PPARDchr6

35382834

-ARHGEF1chr19

42387266

+

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FusionProtFeatures for PPARD_ARHGEF1


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

Q03181

ARHGEF1

Q92888

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}.

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 PPARD_ARHGEF1


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 PPARD_ARHGEF1


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


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 PPARD_ARHGEF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePPARDQ03181DB01039FenofibratePeroxisome proliferator-activated receptor deltasmall moleculeapproved
HgenePPARDQ03181DB13873Fenofibric acidPeroxisome proliferator-activated receptor deltasmall moleculeapproved
HgenePPARDQ03181DB00313Valproic AcidPeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB00374TreprostinilPeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB00412RosiglitazonePeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB00605SulindacPeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB01132PioglitazonePeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB01393BezafibratePeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational
HgenePPARDQ03181DB09462GlycerinPeroxisome proliferator-activated receptor deltasmall moleculeapproved|investigational

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RelatedDiseases for PPARD_ARHGEF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPARDC0028754Obesity2CTD_human
HgenePPARDC0031117Peripheral Neuropathy2CTD_human
HgenePPARDC0037286Skin Neoplasms2CTD_human
HgenePPARDC0005586Bipolar Disorder1PSYGENET
HgenePPARDC0015695Fatty Liver1CTD_human
HgenePPARDC0018800Cardiomegaly1CTD_human
HgenePPARDC0043094Weight Gain1CTD_human
HgenePPARDC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgenePPARDC0878544Cardiomyopathies1CTD_human