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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PPARA-NFIC (FusionGDB2 ID:67319)

Fusion Gene Summary for PPARA-NFIC

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARA-NFIC
Fusion gene ID: 67319
HgeneTgene
Gene symbol

PPARA

NFIC

Gene ID

5465

4782

Gene nameperoxisome proliferator activated receptor alphanuclear factor I C
SynonymsNR1C1|PPAR|PPARalpha|hPPARCTF|CTF5|NF-I|NFI
Cytomap

22q13.31

19p13.3

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 3nuclear factor 1 C-typeCCAAT-box-binding transcription factorNF-I/CNF1-CTGGCA-binding proteinnuclear factor I/C (CCAAT-binding transcription factor)
Modification date2020032920200313
UniProtAcc.

P08651

Ensembl transtripts involved in fusion geneENST00000262735, ENST00000396000, 
ENST00000407236, ENST00000402126, 
ENST00000434345, ENST00000481567, 
ENST00000346156, ENST00000395111, 
ENST00000586919, ENST00000589123, 
ENST00000341919, ENST00000443272, 
ENST00000588839, ENST00000590282, 
Fusion gene scores* DoF score15 X 10 X 10=150024 X 21 X 9=4536
# samples 1827
** MAII scorelog2(18/1500*10)=-3.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/4536*10)=-4.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPARA [Title/Abstract] AND NFIC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPARA(46547873)-NFIC(3456548), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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:0010565

regulation of cellular ketone metabolic process

19955185

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:0019217

regulation of fatty acid metabolic process

19955185

HgenePPARA

GO:0045820

negative regulation of glycolytic process

19955185

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:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

21636785

HgenePPARA

GO:1903038

negative regulation of leukocyte cell-cell adhesion

21636785

TgeneNFIC

GO:0000122

negative regulation of transcription by RNA polymerase II

19706729

TgeneNFIC

GO:0045944

positive regulation of transcription by RNA polymerase II

1524678|19706729


check buttonFusion gene breakpoints across PPARA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NFIC (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-WK-A8XX-01APPARAchr22

46547873

-NFICchr19

3456548

+
ChimerDB4SARCTCGA-WK-A8XX-01APPARAchr22

46547873

+NFICchr19

3456548

+


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Fusion Gene ORF analysis for PPARA-NFIC

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
5UTR-3CDSENST00000262735ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000262735ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000262735ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000262735ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000396000ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000396000ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000396000ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000396000ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000407236ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000407236ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000407236ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-3CDSENST00000407236ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000262735ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000262735ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000262735ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000262735ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000396000ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000396000ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000396000ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000396000ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000407236ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000407236ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000407236ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
5UTR-intronENST00000407236ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000402126ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000402126ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000402126ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000402126ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000434345ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000434345ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000434345ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000434345ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000481567ENST00000346156PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000481567ENST00000395111PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000481567ENST00000586919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-3CDSENST00000481567ENST00000589123PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000402126ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000402126ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000402126ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000402126ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000434345ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000434345ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000434345ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000434345ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000481567ENST00000341919PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000481567ENST00000443272PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000481567ENST00000588839PPARAchr22

46547873

+NFICchr19

3456548

+
intron-intronENST00000481567ENST00000590282PPARAchr22

46547873

+NFICchr19

3456548

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PPARA-NFIC


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PPARAchr2246547873+NFICchr193456547+0.0006580940.9993419
PPARAchr2246547873+NFICchr193456547+0.0006580940.9993419

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PPARA-NFIC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46547873/:3456548)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P08651

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

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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Fusion Gene Sequence for PPARA-NFIC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PPARA-NFIC


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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Related Drugs for PPARA-NFIC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PPARA-NFIC


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