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Fusion gene ID: 26056 |
FusionGeneSummary for PARVB_PPARA |
Fusion gene summary |
Fusion gene information | Fusion gene name: PARVB_PPARA | Fusion gene ID: 26056 | Hgene | Tgene | Gene symbol | PARVB | PPARA | Gene ID | 29780 | 5465 |
Gene name | parvin beta | peroxisome proliferator activated receptor alpha | |
Synonyms | CGI-56 | NR1C1|PPAR|PPARalpha|hPPAR | |
Cytomap | 22q13.31 | 22q13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | beta-parvinaffixin | peroxisome proliferator-activated receptor alphaPPAR-alphanuclear receptor subfamily 1 group C member 1peroxisome proliferative activated receptor, alphaperoxisome proliferator-activated nuclear receptor alpha variant 3 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q9HBI1 | Q07869 | |
Ensembl transtripts involved in fusion gene | ENST00000406477, ENST00000338758, ENST00000404989, ENST00000477795, | ENST00000396000, ENST00000262735, ENST00000407236, ENST00000481567, ENST00000402126, ENST00000434345, | |
Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 3 X 4 X 3=36 |
# samples | 3 | 4 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PARVB [Title/Abstract] AND PPARA [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | PPARA | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9748239|12700342 |
Tgene | PPARA | GO:0010745 | negative regulation of macrophage derived foam cell differentiation | 19114110 |
Tgene | PPARA | GO:0010871 | negative regulation of receptor biosynthetic process | 12700342 |
Tgene | PPARA | GO:0010887 | negative regulation of cholesterol storage | 19114110 |
Tgene | PPARA | GO:0010891 | negative regulation of sequestering of triglyceride | 12700342 |
Tgene | PPARA | GO:0045893 | positive regulation of transcription, DNA-templated | 12955147 |
Tgene | PPARA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9748239|19955185|20837115 |
Tgene | PPARA | GO:0050728 | negative regulation of inflammatory response | 21636785 |
Tgene | PPARA | GO:0072363 | regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter | 19955185 |
Tgene | PPARA | GO:0072366 | regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter | 19955185 |
Tgene | PPARA | GO:0072369 | regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter | 19955185 |
Tgene | PPARA | GO:1902894 | negative regulation of pri-miRNA transcription by RNA polymerase II | 21636785 |
Tgene | PPARA | GO:1903038 | negative regulation of leukocyte cell-cell adhesion | 21636785 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SKCM | TCGA-FS-A4F4-06A | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000406477 | ENST00000396000 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000406477 | ENST00000262735 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000406477 | ENST00000407236 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000406477 | ENST00000481567 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000406477 | ENST00000402126 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000406477 | ENST00000434345 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-5UTR | ENST00000338758 | ENST00000396000 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-5UTR | ENST00000338758 | ENST00000262735 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-5UTR | ENST00000338758 | ENST00000407236 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-intron | ENST00000338758 | ENST00000481567 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-intron | ENST00000338758 | ENST00000402126 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
5CDS-intron | ENST00000338758 | ENST00000434345 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000404989 | ENST00000396000 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000404989 | ENST00000262735 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000404989 | ENST00000407236 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000404989 | ENST00000481567 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000404989 | ENST00000402126 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000404989 | ENST00000434345 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000477795 | ENST00000396000 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000477795 | ENST00000262735 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-5UTR | ENST00000477795 | ENST00000407236 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000477795 | ENST00000481567 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000477795 | ENST00000402126 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
intron-intron | ENST00000477795 | ENST00000434345 | PARVB | chr22 | 44420331 | + | PPARA | chr22 | 46547791 | + |
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FusionProtFeatures for PARVB_PPARA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PARVB | PPARA |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PARVB_PPARA |
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 PARVB_PPARA |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PARVB | ILK, PSME1, RSU1, LIMS1, PARVA, FERMT3, PFKFB2, SNW1, CDC5L | PPARA | NRBF2, 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, STAT1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PARVB_PPARA |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | PPARA | Q07869 | DB00573 | Fenoprofen | Peroxisome proliferator-activated receptor alpha | small molecule | approved |
Tgene | PPARA | Q07869 | DB01039 | Fenofibrate | Peroxisome proliferator-activated receptor alpha | small molecule | approved |
Tgene | PPARA | Q07869 | DB01050 | Ibuprofen | Peroxisome proliferator-activated receptor alpha | small molecule | approved |
Tgene | PPARA | Q07869 | DB01241 | Gemfibrozil | Peroxisome proliferator-activated receptor alpha | small molecule | approved |
Tgene | PPARA | Q07869 | DB13873 | Fenofibric acid | Peroxisome proliferator-activated receptor alpha | small molecule | approved |
Tgene | PPARA | Q07869 | DB00313 | Valproic Acid | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB00328 | Indomethacin | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB00412 | Rosiglitazone | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB00636 | Clofibrate | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB01132 | Pioglitazone | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB01393 | Bezafibrate | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB09064 | Ciprofibrate | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational |
Tgene | PPARA | Q07869 | DB01708 | Prasterone | Peroxisome proliferator-activated receptor alpha | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for PARVB_PPARA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PPARA | C0011853 | Diabetes Mellitus, Experimental | 3 | CTD_human |
Tgene | PPARA | C0036341 | Schizophrenia | 3 | PSYGENET |
Tgene | PPARA | C0020538 | Hypertensive disease | 2 | CTD_human |
Tgene | PPARA | C0021655 | Insulin Resistance | 2 | CTD_human |
Tgene | PPARA | C0010346 | Crohn Disease | 1 | CTD_human |
Tgene | PPARA | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
Tgene | PPARA | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | PPARA | C0014072 | Experimental Autoimmune Encephalomyelitis | 1 | CTD_human |
Tgene | PPARA | C0015695 | Fatty Liver | 1 | CTD_human |
Tgene | PPARA | C0015696 | Fatty Liver, Alcoholic | 1 | CTD_human |
Tgene | PPARA | C0018800 | Cardiomegaly | 1 | CTD_human |
Tgene | PPARA | C0019209 | Hepatomegaly | 1 | CTD_human |
Tgene | PPARA | C0020473 | Hyperlipidemia | 1 | CTD_human |
Tgene | PPARA | C0020476 | Hyperlipoproteinemias | 1 | CTD_human |
Tgene | PPARA | C0020557 | Hypertriglyceridemia | 1 | CTD_human |
Tgene | PPARA | C0020615 | Hypoglycemia | 1 | CTD_human |
Tgene | PPARA | C0021368 | Inflammation | 1 | CTD_human |
Tgene | PPARA | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | PPARA | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Tgene | PPARA | C0022672 | Acute Kidney Tubular Necrosis | 1 | CTD_human |
Tgene | PPARA | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | PPARA | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | PPARA | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | PPARA | C0026848 | Myopathy | 1 | CTD_human |
Tgene | PPARA | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Tgene | PPARA | C0028754 | Obesity | 1 | CTD_human |
Tgene | PPARA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | PPARA | C0033687 | Proteinuria | 1 | CTD_human |
Tgene | PPARA | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | PPARA | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | PPARA | C0242339 | Dyslipidemias | 1 | CTD_human |
Tgene | PPARA | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Tgene | PPARA | C2930930 | Abdominal obesity metabolic syndrome | 1 | CTD_human |
Tgene | PPARA | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |