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Fusion gene ID: 34976 |
FusionGeneSummary for SMS_PPARGC1A |
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Fusion gene information | Fusion gene name: SMS_PPARGC1A | Fusion gene ID: 34976 | Hgene | Tgene | Gene symbol | SMS | PPARGC1A | Gene ID | 10743 | 10891 |
Gene name | retinoic acid induced 1 | PPARG coactivator 1 alpha | |
Synonyms | SMCR|SMS | LEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1 | |
Cytomap | 17p11.2 | 4p15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | retinoic acid-induced protein 1Smith-Magenis syndrome chromosome region | 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 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P52788 | Q9UBK2 | |
Ensembl transtripts involved in fusion gene | ENST00000415881, ENST00000404933, ENST00000379404, ENST00000478094, | ENST00000509702, ENST00000264867, ENST00000507380, | |
Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 2 X 1 X 2=4 |
# samples | 3 | 2 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: SMS [Title/Abstract] AND PPARGC1A [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 | SMS | GO:0045893 | positive regulation of transcription, DNA-templated | 22578325 |
Tgene | PPARGC1A | GO:0006355 | regulation of transcription, DNA-templated | 23836911 |
Tgene | PPARGC1A | GO:0045893 | positive regulation of transcription, DNA-templated | 16488887|19651776 |
Tgene | PPARGC1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21376232 |
Tgene | 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 |
TCGA | LD | PRAD | TCGA-2A-A8W1-01A | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
* 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 |
5UTR-intron | ENST00000415881 | ENST00000509702 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5UTR-intron | ENST00000415881 | ENST00000264867 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5UTR-intron | ENST00000415881 | ENST00000507380 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000404933 | ENST00000509702 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000404933 | ENST00000264867 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000404933 | ENST00000507380 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000379404 | ENST00000509702 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000379404 | ENST00000264867 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000379404 | ENST00000507380 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
3UTR-intron | ENST00000478094 | ENST00000509702 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
3UTR-intron | ENST00000478094 | ENST00000264867 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
3UTR-intron | ENST00000478094 | ENST00000507380 | SMS | chrX | 21958991 | + | PPARGC1A | chr4 | 23886554 | - |
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FusionProtFeatures for SMS_PPARGC1A |
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Hgene | Tgene |
SMS | PPARGC1A |
Catalyzes the production of spermine from spermidine anddecarboxylated S-adenosylmethionine (dcSAM). |
![]() * 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 SMS_PPARGC1A |
![]() (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 SMS_PPARGC1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SMS | MAPK8IP2, MAPKAPK3, RPS6KA3, MAPK6, ELAVL1, KYNU, LACTB2, NUDCD2, CHORDC1, DDX39A, HSPD1, LDHA, SLC9A3R1, C11orf58, BCCIP, CSE1L, DAK, DPP3, GDA, LDHAL6B, NAGK, PDIA3, PROSC, YWHAB, YWHAQ, SORD, TP53RK, ENOPH1, HDLBP, MTRR, UBA6, UCHL3, NTRK1, XIAP, ATP6V1C1, ETFA, IGBP1, STXBP2, BAP1, PPP1R13L, HEATR3, PDRG1, PRRC2B, CMBL | PPARGC1A | NR1H4, MED1, MED16, MED17, MED21, MED12, MED14, MED20, PPARG, HCFC1, ESR1, THRB, NRF1, SRSF5, SRSF6, SRSF4, SRSF2, PPARA, RXRA, NR3C1, NCOA1, CREBBP, FBXW7, GSK3B, EP300, IQGAP1, LRPPRC, SIRT1, MYOD1, HNF4A, NCOA6, ESRRG, ESRRA, NR1I2, MYEF2, SF1, NR5A2, BCL6, ESR2, RNF34, TP53, RNF2, PIAS1, PARK7, SFPQ, CDK6, EGFR, CAPNS1, PRKAA1, KAT2A, UBE2I, NRIP1, NFKB1, RELA, PPARD, CREB3L3, USF2, USF1, EWSR1, NR1I3, PML, SKP1, NR4A2, NDN |
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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 SMS_PPARGC1A |
![]() (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 SMS_PPARGC1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMS | C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | SMS | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Hgene | SMS | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | SMS | C0236788 | Bipolar II disorder | 1 | PSYGENET |
Hgene | SMS | C0525045 | Mood Disorders | 1 | PSYGENET |
Tgene | PPARGC1A | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
Tgene | PPARGC1A | C0018801 | Heart failure | 2 | CTD_human |
Tgene | PPARGC1A | C0006079 | Bowen's Disease | 1 | CTD_human |
Tgene | PPARGC1A | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | PPARGC1A | C0026851 | Muscular Dystrophy, Animal | 1 | CTD_human |
Tgene | PPARGC1A | C0027051 | Myocardial Infarction | 1 | CTD_human |
Tgene | PPARGC1A | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | PPARGC1A | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |