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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: 28096

FusionGeneSummary for PPARGC1A_NXN

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARGC1A_NXN
Fusion gene ID: 28096
HgeneTgene
Gene symbol

PPARGC1A

NXN

Gene ID

10891

64359

Gene namePPARG coactivator 1 alphanucleoredoxin
SynonymsLEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1NRX|TRG-4
Cytomap

4p15.2

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionperoxisome proliferator-activated receptor gamma coactivator 1-alphaL-PGC-1alphaPGC-1-alphaPPAR gamma coactivator variant formPPARGC-1-alphaPPARgamma coactivator 1alphaligand effect modulator-6peroxisome proliferator-activated receptor gamma coactinucleoredoxinnucleoredoxin 1
Modification date2018052720180519
UniProtAcc

Q9UBK2

Q6DKJ4

Ensembl transtripts involved in fusion geneENST00000509702, ENST00000264867, 
ENST00000507380, 
ENST00000336868, 
ENST00000577098, ENST00000575801, 
ENST00000538650, ENST00000537628, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 7 X 3=168
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPARGC1A [Title/Abstract] AND NXN [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
HgenePPARGC1A

GO:0006355

regulation of transcription, DNA-templated

23836911

HgenePPARGC1A

GO:0045893

positive regulation of transcription, DNA-templated

16488887|19651776

HgenePPARGC1A

GO:0045944

positive regulation of transcription by RNA polymerase II

21376232

HgenePPARGC1A

GO:0051091

positive regulation of DNA binding transcription factor activity

19651776


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
ChiTaRS3.1AA047637PPARGC1Achr4

23865710

-NXNchr17

703105

-
* 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-3UTRENST00000509702ENST00000336868PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000509702ENST00000577098PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-3UTRENST00000509702ENST00000575801PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000509702ENST00000538650PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000509702ENST00000537628PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-3UTRENST00000264867ENST00000336868PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000264867ENST00000577098PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-3UTRENST00000264867ENST00000575801PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000264867ENST00000538650PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000264867ENST00000537628PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-3UTRENST00000507380ENST00000336868PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000507380ENST00000577098PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-3UTRENST00000507380ENST00000575801PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000507380ENST00000538650PPARGC1Achr4

23865710

-NXNchr17

703105

-
intron-intronENST00000507380ENST00000537628PPARGC1Achr4

23865710

-NXNchr17

703105

-

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FusionProtFeatures for PPARGC1A_NXN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPARGC1A

Q9UBK2

NXN

Q6DKJ4

Functions as a redox-dependent negative regulator of theWnt signaling pathway, possibly by preventing ubiquitination ofDVL3 by the BCR(KLHL12) complex. May also function as atranscriptional regulator act as a regulator of proteinphosphatase 2A (PP2A) (By similarity). {ECO:0000250}.

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 PPARGC1A_NXN


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 PPARGC1A_NXN


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 PPARGC1A_NXN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PPARGC1A_NXN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPARGC1AC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
HgenePPARGC1AC0018801Heart failure2CTD_human
HgenePPARGC1AC0006079Bowen's Disease1CTD_human
HgenePPARGC1AC0011853Diabetes Mellitus, Experimental1CTD_human
HgenePPARGC1AC0026851Muscular Dystrophy, Animal1CTD_human
HgenePPARGC1AC0027051Myocardial Infarction1CTD_human
HgenePPARGC1AC0036341Schizophrenia1PSYGENET
HgenePPARGC1AC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneNXNC0009404Colorectal Neoplasms1CTD_human