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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: 28077

FusionGeneSummary for PPARA_AP2M1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARA_AP2M1
Fusion gene ID: 28077
HgeneTgene
Gene symbol

PPARA

AP2M1

Gene ID

5465

1173

Gene nameperoxisome proliferator activated receptor alphaadaptor related protein complex 2 subunit mu 1
SynonymsNR1C1|PPAR|PPARalpha|hPPARAP50|CLAPM1|mu2
Cytomap

22q13.31

3q27.1

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 3AP-2 complex subunit muAP-2 mu 2 chainHA2 50 kDA subunitadaptin-mu2adaptor protein complex AP-2 subunit muadaptor related protein complex 2 mu 1 subunitadaptor-related protein complex 2 subunit muclathrin adaptor complex AP2, mu subunitclathrin as
Modification date2018052720180522
UniProtAcc

Q07869

Q96CW1

Ensembl transtripts involved in fusion geneENST00000396000, ENST00000262735, 
ENST00000407236, ENST00000481567, 
ENST00000402126, ENST00000434345, 
ENST00000382456, ENST00000411763, 
ENST00000292807, ENST00000439647, 
ENST00000461733, 
Fusion gene scores* DoF score10 X 6 X 9=5406 X 8 X 1=48
# samples 118
** MAII scorelog2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPARA [Title/Abstract] AND AP2M1 [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


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
ChiTaRS3.1AI079573PPARAchr22

46637648

-AP2M1chr3

183901807

-
* 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
3UTR-3UTRENST00000396000ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-intronENST00000396000ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000396000ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000396000ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000396000ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000262735ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-intronENST00000262735ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000262735ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000262735ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000262735ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000407236ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-intronENST00000407236ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000407236ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000407236ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
3UTR-3UTRENST00000407236ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000481567ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-intronENST00000481567ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000481567ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000481567ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000481567ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000402126ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-intronENST00000402126ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000402126ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000402126ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000402126ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000434345ENST00000382456PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-intronENST00000434345ENST00000411763PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000434345ENST00000292807PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000434345ENST00000439647PPARAchr22

46637648

-AP2M1chr3

183901807

-
intron-3UTRENST00000434345ENST00000461733PPARAchr22

46637648

-AP2M1chr3

183901807

-

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FusionProtFeatures for PPARA_AP2M1


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

Q07869

AP2M1

Q96CW1

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}. Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 musubunit binds to transmembrane cargo proteins; it recognizes theY-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomesaccessible through a conformational change followingphosphorylation of AP-2 mu subunit at 'Tyr-156' in membrane-associated AP-2. The membrane-specific phosphorylation eventappears to involve assembled clathrin which activates the AP-2 mukinase AAK1 (By similarity). Plays a role in endocytosis offrizzled family members upon Wnt signaling (By similarity).{ECO:0000250, ECO:0000269|PubMed:12694563,ECO:0000269|PubMed:12952941, ECO:0000269|PubMed:14745134,ECO:0000269|PubMed:14985334, ECO:0000269|PubMed:15473838,ECO:0000269|PubMed:16581796, ECO:0000269|PubMed:19033387}.

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_AP2M1


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_AP2M1


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 PPARA_AP2M1


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_AP2M1


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