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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: 28085

FusionGeneSummary for PPARA_SAMM50

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARA_SAMM50
Fusion gene ID: 28085
HgeneTgene
Gene symbol

PPARA

SAMM50

Gene ID

5465

25813

Gene nameperoxisome proliferator activated receptor alphaSAMM50 sorting and assembly machinery component
SynonymsNR1C1|PPAR|PPARalpha|hPPARCGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W
Cytomap

22q13.31

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionperoxisome proliferator-activated receptor alphaPPAR-alphanuclear receptor subfamily 1 group C member 1peroxisome proliferative activated receptor, alphaperoxisome proliferator-activated nuclear receptor alpha variant 3sorting and assembly machinery component 50 homologsorting and assembly machinery 50kDatransformation-related gene 3 protein
Modification date2018052720180527
UniProtAcc

Q07869

Q9Y512

Ensembl transtripts involved in fusion geneENST00000396000, ENST00000262735, 
ENST00000407236, ENST00000481567, 
ENST00000402126, ENST00000434345, 
ENST00000350028, ENST00000493161, 
ENST00000396202, 
Fusion gene scores* DoF score10 X 6 X 9=5405 X 5 X 4=100
# samples 115
** MAII scorelog2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPARA [Title/Abstract] AND SAMM50 [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
HgenePPARA

GO:0000122

negative regulation of transcription by RNA polymerase II

9748239|12700342

HgenePPARA

GO:0010745

negative regulation of macrophage derived foam cell differentiation

19114110

HgenePPARA

GO:0010871

negative regulation of receptor biosynthetic process

12700342

HgenePPARA

GO:0010887

negative regulation of cholesterol storage

19114110

HgenePPARA

GO:0010891

negative regulation of sequestering of triglyceride

12700342

HgenePPARA

GO:0045893

positive regulation of transcription, DNA-templated

12955147

HgenePPARA

GO:0045944

positive regulation of transcription by RNA polymerase II

9748239|19955185|20837115

HgenePPARA

GO:0050728

negative regulation of inflammatory response

21636785

HgenePPARA

GO:0072363

regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter

19955185

HgenePPARA

GO:0072366

regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter

19955185

HgenePPARA

GO:0072369

regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter

19955185

HgenePPARA

GO:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

21636785

HgenePPARA

GO:1903038

negative regulation of leukocyte cell-cell adhesion

21636785

TgeneSAMM50

GO:0045040

protein import into mitochondrial outer membrane

15644312


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
TCGARVKIRPTCGA-P4-A5EB-01APPARAchr22

46572733

+SAMM50chr22

44384991

+
* 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-3CDSENST00000396000ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000396000ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000396000ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-3CDSENST00000262735ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000262735ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000262735ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-3CDSENST00000407236ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-intronENST00000407236ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-intronENST00000407236ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+
3UTR-3CDSENST00000481567ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
3UTR-intronENST00000481567ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
3UTR-intronENST00000481567ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-3CDSENST00000402126ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-intronENST00000402126ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
5UTR-intronENST00000402126ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-3CDSENST00000434345ENST00000350028PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000434345ENST00000493161PPARAchr22

46572733

+SAMM50chr22

44384991

+
intron-intronENST00000434345ENST00000396202PPARAchr22

46572733

+SAMM50chr22

44384991

+

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FusionProtFeatures for PPARA_SAMM50


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

Q07869

SAMM50

Q9Y512

Ligand-activated transcription factor. Key regulator oflipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activatedby oleylethanolamide, a naturally occurring lipid that regulatessatiety. Receptor for peroxisome proliferators such ashypolipidemic drugs and fatty acids. Regulates the peroxisomalbeta-oxidation pathway of fatty acids. Functions as transcriptionactivator for the ACOX1 and P450 genes. Transactivation activityrequires heterodimerization with RXRA and is antagonized by NR2C2.May be required for the propagation of clock information tometabolic pathways regulated by PER2.{ECO:0000269|PubMed:10195690, ECO:0000269|PubMed:24043310,ECO:0000269|PubMed:7629123, ECO:0000269|PubMed:7684926,ECO:0000269|PubMed:9556573}. Plays a crucial role in the maintenance of the structureof mitochondrial cristae and the proper assembly of themitochondrial respiratory chain complexes (PubMed:22252321,PubMed:25781180). Required for the assembly of TOMM40 into the TOMcomplex (PubMed:15644312). {ECO:0000269|PubMed:15644312,ECO:0000269|PubMed:22252321, ECO:0000269|PubMed:25781180}.

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 PPARA_SAMM50


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 PPARA_SAMM50


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
PPARANRBF2, STAC3, GADD45G, NCOA1, EP300, RXRG, DAP3, FABP1, MECR, RELA, NRIP1, NCOR1, PPARGC1B, AKAP13, POU1F1, HELZ2, RXRA, NCOR2, NR1H3, PPARGC1A, MED24, HSP90AA1, AIP, TRA, LPIN1, UBE2I, TNP1, CHD9, CDK3, FOXA3, PRMT1, PRMT8, SIRT1, RXRB, NCOA2, NCOA3, CEP350, GRB2, PIK3R3, BCL2, CDC34, STAT1SAMM50MEOX2, MINOS1, TOMM22, NDUFS8, MRPL11, NDUFS3, SSBP1, SDHA, HSPA8, MRPS11, CYC1, SURF1, RPS23, NDUFB8, TOMM40, HNRNPM, SQRDL, SERINC1, HNRNPUL1, RHOT2, SLC25A17, CLN3, NPM1, CHCHD3, SUZ12, EGFR, TIMMDC1, MTX2, C19orf70, APOOL, C15orf48, NDUFA4, DUSP22, MTM1, RAB8A


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 PPARA_SAMM50


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePPARAQ07869DB00573FenoprofenPeroxisome proliferator-activated receptor alphasmall moleculeapproved
HgenePPARAQ07869DB01039FenofibratePeroxisome proliferator-activated receptor alphasmall moleculeapproved
HgenePPARAQ07869DB01050IbuprofenPeroxisome proliferator-activated receptor alphasmall moleculeapproved
HgenePPARAQ07869DB01241GemfibrozilPeroxisome proliferator-activated receptor alphasmall moleculeapproved
HgenePPARAQ07869DB13873Fenofibric acidPeroxisome proliferator-activated receptor alphasmall moleculeapproved
HgenePPARAQ07869DB00313Valproic AcidPeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB00328IndomethacinPeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB00412RosiglitazonePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB00636ClofibratePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB01132PioglitazonePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB01393BezafibratePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB09064CiprofibratePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational
HgenePPARAQ07869DB01708PrasteronePeroxisome proliferator-activated receptor alphasmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for PPARA_SAMM50


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPARAC0011853Diabetes Mellitus, Experimental3CTD_human
HgenePPARAC0036341Schizophrenia3PSYGENET
HgenePPARAC0020538Hypertensive disease2CTD_human
HgenePPARAC0021655Insulin Resistance2CTD_human
HgenePPARAC0010346Crohn Disease1CTD_human
HgenePPARAC0011615Dermatitis, Atopic1CTD_human
HgenePPARAC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgenePPARAC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
HgenePPARAC0015695Fatty Liver1CTD_human
HgenePPARAC0015696Fatty Liver, Alcoholic1CTD_human
HgenePPARAC0018800Cardiomegaly1CTD_human
HgenePPARAC0019209Hepatomegaly1CTD_human
HgenePPARAC0020473Hyperlipidemia1CTD_human
HgenePPARAC0020476Hyperlipoproteinemias1CTD_human
HgenePPARAC0020557Hypertriglyceridemia1CTD_human
HgenePPARAC0020615Hypoglycemia1CTD_human
HgenePPARAC0021368Inflammation1CTD_human
HgenePPARAC0022658Kidney Diseases1CTD_human
HgenePPARAC0022661Kidney Failure, Chronic1CTD_human
HgenePPARAC0022672Acute Kidney Tubular Necrosis1CTD_human
HgenePPARAC0023903Liver neoplasms1CTD_human
HgenePPARAC0024667Animal Mammary Neoplasms1CTD_human
HgenePPARAC0024668Mammary Neoplasms, Experimental1CTD_human
HgenePPARAC0026848Myopathy1CTD_human
HgenePPARAC0027055Myocardial Reperfusion Injury1CTD_human
HgenePPARAC0028754Obesity1CTD_human
HgenePPARAC0033578Prostatic Neoplasms1CTD_human
HgenePPARAC0033687Proteinuria1CTD_human
HgenePPARAC0035126Reperfusion Injury1CTD_human
HgenePPARAC0041755Adverse reaction to drug1CTD_human
HgenePPARAC0242339Dyslipidemias1CTD_human
HgenePPARAC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgenePPARAC2930930Abdominal obesity metabolic syndrome1CTD_human
HgenePPARAC4277682Chemical and Drug Induced Liver Injury1CTD_human