![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 20066 |
FusionGeneSummary for LRBA_PPARGC1A |
![]() |
Fusion gene information | Fusion gene name: LRBA_PPARGC1A | Fusion gene ID: 20066 | Hgene | Tgene | Gene symbol | LRBA | PPARGC1A | Gene ID | 987 | 10891 |
Gene name | LPS responsive beige-like anchor protein | PPARG coactivator 1 alpha | |
Synonyms | BGL|CDC4L|CVID8|LAB300|LBA | LEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1 | |
Cytomap | 4q31.3 | 4p15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | lipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing | 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 | 20180519 | 20180527 | |
UniProtAcc | P50851 | Q9UBK2 | |
Ensembl transtripts involved in fusion gene | ENST00000535741, ENST00000510413, ENST00000503716, ENST00000357115, ENST00000507224, | ENST00000509702, ENST00000264867, ENST00000507380, | |
Fusion gene scores | * DoF score | 16 X 15 X 12=2880 | 2 X 1 X 2=4 |
# samples | 22 | 2 | |
** MAII score | log2(22/2880*10)=-3.71049338280502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: LRBA [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
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 | BRCA | TCGA-EW-A6SD-01A | LRBA | chr4 | 151935579 | - | 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 |
5CDS-intron | ENST00000535741 | ENST00000509702 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000535741 | ENST00000264867 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000535741 | ENST00000507380 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000510413 | ENST00000509702 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000510413 | ENST00000264867 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000510413 | ENST00000507380 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
intron-intron | ENST00000503716 | ENST00000509702 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
intron-intron | ENST00000503716 | ENST00000264867 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
intron-intron | ENST00000503716 | ENST00000507380 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000357115 | ENST00000509702 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000357115 | ENST00000264867 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000357115 | ENST00000507380 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000507224 | ENST00000509702 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000507224 | ENST00000264867 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
5CDS-intron | ENST00000507224 | ENST00000507380 | LRBA | chr4 | 151935579 | - | PPARGC1A | chr4 | 23886554 | - |
Top |
FusionProtFeatures for LRBA_PPARGC1A |
![]() |
Hgene | Tgene |
LRBA | PPARGC1A |
May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {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 |
Top |
FusionGeneSequence for LRBA_PPARGC1A |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for LRBA_PPARGC1A |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
LRBA | TUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, TRIM25 | 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 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for LRBA_PPARGC1A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for LRBA_PPARGC1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LRBA | C3553512 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | 1 | ORPHANET;UNIPROT |
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 |