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Fusion gene ID: 28096 |
FusionGeneSummary for PPARGC1A_NXN |
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Fusion gene information | Fusion gene name: PPARGC1A_NXN | Fusion gene ID: 28096 | Hgene | Tgene | Gene symbol | PPARGC1A | NXN | Gene ID | 10891 | 64359 |
Gene name | PPARG coactivator 1 alpha | nucleoredoxin | |
Synonyms | LEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1 | NRX|TRG-4 | |
Cytomap | 4p15.2 | 17p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | peroxisome 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 coacti | nucleoredoxinnucleoredoxin 1 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | Q9UBK2 | Q6DKJ4 | |
Ensembl transtripts involved in fusion gene | ENST00000509702, ENST00000264867, ENST00000507380, | ENST00000336868, ENST00000577098, ENST00000575801, ENST00000538650, ENST00000537628, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 7 X 3=168 |
# samples | 1 | 8 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PPARGC1A | GO:0006355 | regulation of transcription, DNA-templated | 23836911 |
Hgene | PPARGC1A | GO:0045893 | positive regulation of transcription, DNA-templated | 16488887|19651776 |
Hgene | PPARGC1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21376232 |
Hgene | PPARGC1A | GO:0051091 | positive regulation of DNA binding transcription factor activity | 19651776 |
![]() (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 |
ChiTaRS3.1 | AA047637 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3UTR | ENST00000509702 | ENST00000336868 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000509702 | ENST00000577098 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-3UTR | ENST00000509702 | ENST00000575801 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000509702 | ENST00000538650 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000509702 | ENST00000537628 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-3UTR | ENST00000264867 | ENST00000336868 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000264867 | ENST00000577098 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-3UTR | ENST00000264867 | ENST00000575801 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000264867 | ENST00000538650 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000264867 | ENST00000537628 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-3UTR | ENST00000507380 | ENST00000336868 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000507380 | ENST00000577098 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-3UTR | ENST00000507380 | ENST00000575801 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000507380 | ENST00000538650 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
intron-intron | ENST00000507380 | ENST00000537628 | PPARGC1A | chr4 | 23865710 | - | NXN | chr17 | 703105 | - |
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FusionProtFeatures for PPARGC1A_NXN |
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Hgene | Tgene |
PPARGC1A | NXN |
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}. |
![]() * 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 PPARGC1A_NXN |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PPARGC1A_NXN |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PPARGC1A_NXN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PPARGC1A | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
Hgene | PPARGC1A | C0018801 | Heart failure | 2 | CTD_human |
Hgene | PPARGC1A | C0006079 | Bowen's Disease | 1 | CTD_human |
Hgene | PPARGC1A | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | PPARGC1A | C0026851 | Muscular Dystrophy, Animal | 1 | CTD_human |
Hgene | PPARGC1A | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | PPARGC1A | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | PPARGC1A | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
Tgene | NXN | C0009404 | Colorectal Neoplasms | 1 | CTD_human |