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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: 20066

FusionGeneSummary for LRBA_PPARGC1A

check button Fusion gene summary
Fusion gene informationFusion gene name: LRBA_PPARGC1A
Fusion gene ID: 20066
HgeneTgene
Gene symbol

LRBA

PPARGC1A

Gene ID

987

10891

Gene nameLPS responsive beige-like anchor proteinPPARG coactivator 1 alpha
SynonymsBGL|CDC4L|CVID8|LAB300|LBALEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1
Cytomap

4q31.3

4p15.2

Type of geneprotein-codingprotein-coding
Descriptionlipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containingperoxisome 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 date2018051920180527
UniProtAcc

P50851

Q9UBK2

Ensembl transtripts involved in fusion geneENST00000535741, ENST00000510413, 
ENST00000503716, ENST00000357115, 
ENST00000507224, 
ENST00000509702, 
ENST00000264867, ENST00000507380, 
Fusion gene scores* DoF score16 X 15 X 12=28802 X 1 X 2=4
# samples 222
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePPARGC1A

GO:0006355

regulation of transcription, DNA-templated

23836911

TgenePPARGC1A

GO:0045893

positive regulation of transcription, DNA-templated

16488887|19651776

TgenePPARGC1A

GO:0045944

positive regulation of transcription by RNA polymerase II

21376232

TgenePPARGC1A

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
TCGALDBRCATCGA-EW-A6SD-01ALRBAchr4

151935579

-PPARGC1Achr4

23886554

-
* 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
5CDS-intronENST00000535741ENST00000509702LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000535741ENST00000264867LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000535741ENST00000507380LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000510413ENST00000509702LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000510413ENST00000264867LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000510413ENST00000507380LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
intron-intronENST00000503716ENST00000509702LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
intron-intronENST00000503716ENST00000264867LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
intron-intronENST00000503716ENST00000507380LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000357115ENST00000509702LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000357115ENST00000264867LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000357115ENST00000507380LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000507224ENST00000509702LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000507224ENST00000264867LRBAchr4

151935579

-PPARGC1Achr4

23886554

-
5CDS-intronENST00000507224ENST00000507380LRBAchr4

151935579

-PPARGC1Achr4

23886554

-

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FusionProtFeatures for LRBA_PPARGC1A


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

P50851

PPARGC1A

Q9UBK2

May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {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 LRBA_PPARGC1A


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 LRBA_PPARGC1A


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
LRBATUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, TRIM25PPARGC1ANR1H4, 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


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 LRBA_PPARGC1A


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 LRBA_PPARGC1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT
TgenePPARGC1AC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
TgenePPARGC1AC0018801Heart failure2CTD_human
TgenePPARGC1AC0006079Bowen's Disease1CTD_human
TgenePPARGC1AC0011853Diabetes Mellitus, Experimental1CTD_human
TgenePPARGC1AC0026851Muscular Dystrophy, Animal1CTD_human
TgenePPARGC1AC0027051Myocardial Infarction1CTD_human
TgenePPARGC1AC0036341Schizophrenia1PSYGENET
TgenePPARGC1AC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human