mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PPARD
Gene summary
Basic gene Info.Gene symbolPPARD
Gene nameperoxisome proliferator-activated receptor delta
SynonymsFAAR|NR1C2|NUC1|NUCI|NUCII|PPARB
CytomapUCSC genome browser: 6p21.2
Type of geneprotein-coding
RefGenesNM_001171818.1,
NM_001171819.1,NM_001171820.1,NM_006238.4,NM_177435.2,
DescriptionPPAR-betaPPAR-deltanuclear hormone receptor 1nuclear receptor subfamily 1 group C member 2peroxisome proliferator-activated nuclear receptor beta/delta variant 2peroxisome proliferator-activated receptor beta
Modification date20141207
dbXrefs MIM : 600409
HGNC : HGNC
Ensembl : ENSG00000112033
HPRD : 02679
Vega : OTTHUMG00000014567
ProteinUniProt: Q03181
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PPARD
BioGPS: 5467
PathwayNCI Pathway Interaction Database: PPARD
KEGG: PPARD
REACTOME: PPARD
Pathway Commons: PPARD
ContextiHOP: PPARD
ligand binding site mutation search in PubMed: PPARD
UCL Cancer Institute: PPARD
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for PPARD.1. "Duan Y, Brenig B, Wu X, Ren J, Huang L. The G32E functional variant reduces activity of PPARD by nuclear export and post-translational modification in pigs. PLoS One. 2013 Sep 18;8(9):e75925. doi: 10.1371/journal.pone.0075925. eCollection 2013." 24058710

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0030522intracellular receptor signaling pathway12955147
GO:0045893positive regulation of transcription, DNA-templated12955147


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Ligand binding site mutations for PPARD
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E371R369QCOAD1
L317R318CCOAD1
H287H287RKIRC1
E371R369LLUAD1
C77D79ELUAD1
Q418R419QLUSC1
N276D277HLUSC1
H287H287YOV1
V279V279ASKCM1
Y238P237SSKCM1
I213H214LSTAD1
I241S242GSTAD1
I241,V245V243MSTAD1
R258R258QSTAD1
R258R258WUCEC1
H287V286MUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for PPARD
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
H287H287R0.2620408
H287H287Y0.14350941
R258R258W0.013734933
Y238P237S-1.4962923
Q418R419Q-1.2265113
I241S242G-1.152002
I241V243M-0.98272803
V245V243M-0.98272803
V279V279A-0.96129053
E371R369Q-0.93852234
H287V286M-0.9025916
N276D277H-0.86967307
C77D79E-0.82693288
E371R369L-0.35937457
L317R318C-0.33016112
I213H214L-0.25546074
R258R258Q-0.21997158
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for PPARD from PDB

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Differential gene expression and gene-gene network for PPARD
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of PPARD and the right PPI network was created from samples without mutations in the LBS of PPARD. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PPARD
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity14Biomarker, GeneticVariation, Therapeutic
umls:C0015695Fatty Liver6Biomarker, GeneticVariation
umls:C0400966Non-alcoholic Fatty Liver Disease2Biomarker, Therapeutic
umls:C0031117Peripheral Nervous System Diseases2Biomarker
umls:C0037286Skin Neoplasms2Biomarker, Therapeutic
umls:C0018800Cardiomegaly1Biomarker
umls:C0878544Cardiomyopathies1Biomarker
umls:C0043094Weight Gain1Therapeutic

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PPARD
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00159IcosapentSmall molecule
Approved|investigationalDB00374TreprostinilSmall molecule
ApprovedDB00605SulindacSmall molecule
ApprovedDB01393BezafibrateSmall molecule
ExperimentalDB03338Heptyl-Beta-D-GlucopyranosideSmall molecule
ExperimentalDB04801(11E)-OCTADEC-11-ENOIC ACIDSmall molecule
InvestigationalDB05187GFT505Small molecule
InvestigationalDB05188KD3010Small molecule
ExperimentalDB07070(2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acidSmall molecule
ExperimentalDB076912-({[3-(3,4-dihydroisoquinolin-2(1H)-ylsulfonyl)phenyl]carbonyl}amino)benzoic acidSmall molecule
ExperimentalDB077243-{5-methoxy-1-[(4-methoxyphenyl)sulfonyl]-1H-indol-3-yl}propanoic acidSmall molecule
ExperimentalDB08078{4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PPARD go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2envAC77
IL2(5E)-5-[(3AS,4R,5R,6AS)-5-HYDROXY-4-[(1E,3S,4R)-3-HYDROXY-4-METHYLOCT-1-EN-6-YN-1-YL]HEXAHYDROPENTALEN-2(1H)-YLIDENE]PENTANOIC ACID3sp9AH287
IL2(5E)-5-[(3AS,4R,5R,6AS)-5-HYDROXY-4-[(1E,3S,4R)-3-HYDROXY-4-METHYLOCT-1-EN-6-YN-1-YL]HEXAHYDROPENTALEN-2(1H)-YLIDENE]PENTANOIC ACID3sp9BH287
Z004-[2-[[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]AMINO]ETHYL]-N-(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)BENZENESULFONAMIDE2xyxBI213 V245
Z004-[2-[[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]AMINO]ETHYL]-N-(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)BENZENESULFONAMIDE2xyxAI213 V245 L317
WLM5-CHLORO-2-METHOXY-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]BENZAMIDE2xyjAR258
WLM5-CHLORO-2-METHOXY-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]BENZAMIDE2xyjBR258
08S3-CHLORO-6-FLUORO-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]-1-BENZOTHIOPHENE-2-CARBOXAMIDE2xywAV245
ET13-{5-METHOXY-1-[(4-METHOXYPHENYL)SULFONYL]-1H-INDOL-3-YL}PROPANOIC ACID3et2AV245 H287
ET13-{5-METHOXY-1-[(4-METHOXYPHENYL)SULFONYL]-1H-INDOL-3-YL}PROPANOIC ACID3et2BV245 H287
GW0GW 0742{4-[({2-[3-FLUORO-4-(TRIFLUOROMETHYL)PHENYL]-4-METHYL- 1,3-THIAZOL-5-YL}METHYL)SULFANYL]-2- METHYLPHENOXY}ACETIC ACID3tkmAV245 H287
GNI(3-{4-[2-(2,4-DICHLORO-PHENOXY)-ETHYLCARBAMOYL]-5-PHENYL-ISOXAZOL-3-YL}-PHENYL)-ACETICACID2j14AV245 H287 L317
GNI(3-{4-[2-(2,4-DICHLORO-PHENOXY)-ETHYLCARBAMOYL]-5-PHENYL-ISOXAZOL-3-YL}-PHENYL)-ACETICACID2j14BV245 H287 L317
WLM5-CHLORO-2-METHOXY-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]BENZAMIDE2xyjAV245 L317
WLM5-CHLORO-2-METHOXY-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]BENZAMIDE2xyjBV245 L317
08S3-CHLORO-6-FLUORO-N-[2-[4-[(5-PROPAN-2-YL-1,3,4-THIADIAZOL-2-YL)SULFAMOYL]PHENYL]ETHYL]-1-BENZOTHIOPHENE-2-CARBOXAMIDE2xywBV245 L317
1BOBUTAN-1-OL3et2AY238 I241


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Conservation information for LBS of PPARD
Multiple alignments for Q03181 in multiple species
LBSAA sequence# speciesSpecies
A414LVTEHAQMMQR2Homo sapiens, Canis lupus familiaris
A414LVTEHAQMMQW1Mus musculus
C249HVFYRCQCTTV2Homo sapiens, Canis lupus familiaris
C249HVFYRCQSTTV1Mus musculus
C74SLNMECRVCGD3Homo sapiens, Mus musculus, Canis lupus familiaris
C77MECRVCGDKAS3Homo sapiens, Mus musculus, Canis lupus familiaris
C91YGVHACEGCKG3Homo sapiens, Mus musculus, Canis lupus familiaris
C94HACEGCKGFFR3Homo sapiens, Mus musculus, Canis lupus familiaris
D44SSSYTDLSRSS2Homo sapiens, Canis lupus familiaris
D44SSSCADLSQNS1Mus musculus
E223TLWQAEKGLVW3Homo sapiens, Mus musculus, Canis lupus familiaris
E259VETVRELTEFA3Homo sapiens, Mus musculus, Canis lupus familiaris
E371NVPQVEAIQDT2Mus musculus, Canis lupus familiaris
E371NVPRVEAIQDT1Homo sapiens
E435HPLLQEIYKDM3Homo sapiens, Mus musculus, Canis lupus familiaris
F246ISVHVFYRCQC2Homo sapiens, Canis lupus familiaris
F246ISVHVFYRCQS1Mus musculus
F274SFSSLFLNDQV1Homo sapiens
F274NFSSLFLNDQV1Mus musculus
F274SFSNLFLNDQV1Canis lupus familiaris
F291VHEAIFAMLAS3Homo sapiens, Mus musculus, Canis lupus familiaris
F324SLRKPFSDIIE3Homo sapiens, Mus musculus, Canis lupus familiaris
F332IIEPKFEFAVK3Homo sapiens, Mus musculus, Canis lupus familiaris
H287LKYGVHEAIFA3Homo sapiens, Mus musculus, Canis lupus familiaris
H413QLVTEHAQMMQ3Homo sapiens, Mus musculus, Canis lupus familiaris
H430TETSLHPLLQE2Homo sapiens, Canis lupus familiaris
H430SETLLHPLLQE1Mus musculus
I213TAPFVIHDIET2Homo sapiens, Canis lupus familiaris
I213NAPFVIHDIET1Mus musculus
I241PPYKEISVHVF2Homo sapiens, Canis lupus familiaris
I241PPYNEISVHVF1Mus musculus
I290GVHEAIFAMLA3Homo sapiens, Mus musculus, Canis lupus familiaris
I297AMLASIVNKDG3Homo sapiens, Mus musculus, Canis lupus familiaris
I327KPFSDIIEPKF3Homo sapiens, Mus musculus, Canis lupus familiaris
I328PFSDIIEPKFE3Homo sapiens, Mus musculus, Canis lupus familiaris
I436PLLQEIYKDMY3Homo sapiens, Mus musculus, Canis lupus familiaris
K283QVTLLKYGVHE3Homo sapiens, Mus musculus, Canis lupus familiaris
K300ASIVNKDGLLV3Homo sapiens, Mus musculus, Canis lupus familiaris
K331DIIEPKFEFAV3Homo sapiens, Mus musculus, Canis lupus familiaris
K421MMQRIKKTETE2Homo sapiens, Canis lupus familiaris
K421MMQWLKKTESE1Mus musculus
K438LQEIYKDMY3Homo sapiens, Mus musculus, Canis lupus familiaris
L219HDIETLWQAEK3Homo sapiens, Mus musculus, Canis lupus familiaris
L275FSSLFLNDQVT2Homo sapiens, Mus musculus
L275FSNLFLNDQVT1Canis lupus familiaris
L282DQVTLLKYGVH3Homo sapiens, Mus musculus, Canis lupus familiaris
L294AIFAMLASIVN3Homo sapiens, Mus musculus, Canis lupus familiaris
L303VNKDGLLVANG3Homo sapiens, Mus musculus, Canis lupus familiaris
L317VTREFLRSLRK2Homo sapiens, Canis lupus familiaris
L317VTHEFLRSLRK1Mus musculus
L429ETETSLHPLLQ2Homo sapiens, Canis lupus familiaris
L429ESETLLHPLLQ1Mus musculus
L432TSLHPLLQEIY2Homo sapiens, Canis lupus familiaris
L432TLLHPLLQEIY1Mus musculus
L433SLHPLLQEIYK2Homo sapiens, Canis lupus familiaris
L433LLHPLLQEIYK1Mus musculus
M192LKNFNMTKKKA3Homo sapiens, Mus musculus, Canis lupus familiaris
M293EAIFAMLASIV3Homo sapiens, Mus musculus, Canis lupus familiaris
M417EHAQMMQRIKK2Homo sapiens, Canis lupus familiaris
M417EHAQMMQWLKK1Mus musculus
N276SSLFLNDQVTL2Homo sapiens, Mus musculus
N276SNLFLNDQVTL1Canis lupus familiaris
P431ETSLHPLLQEI2Homo sapiens, Canis lupus familiaris
P431ETLLHPLLQEI1Mus musculus
Q250VFYRCQCTTVE2Homo sapiens, Canis lupus familiaris
Q250VFYRCQSTTVE1Mus musculus
Q374QVEAIQDTILR2Mus musculus, Canis lupus familiaris
Q374RVEAIQDTILR1Homo sapiens
Q418HAQMMQRIKKT2Homo sapiens, Canis lupus familiaris
Q418HAQMMQWLKKT1Mus musculus
R248VHVFYRCQCTT2Homo sapiens, Canis lupus familiaris
R248VHVFYRCQSTT1Mus musculus
R258TVETVRELTEF3Homo sapiens, Mus musculus, Canis lupus familiaris
T252YRCQCTTVETV2Homo sapiens, Canis lupus familiaris
T252YRCQSTTVETV1Mus musculus
T253RCQCTTVETVR2Homo sapiens, Canis lupus familiaris
T253RCQSTTVETVR1Mus musculus
T256CTTVETVRELT2Homo sapiens, Canis lupus familiaris
T256STTVETVRELT1Mus musculus
T261TVRELTEFAKS2Homo sapiens, Canis lupus familiaris
T261TVRELTEFAKN1Mus musculus
T280LNDQVTLLKYG3Homo sapiens, Mus musculus, Canis lupus familiaris
V245EISVHVFYRCQ3Homo sapiens, Mus musculus, Canis lupus familiaris
V257TTVETVRELTE3Homo sapiens, Mus musculus, Canis lupus familiaris
V279FLNDQVTLLKY3Homo sapiens, Mus musculus, Canis lupus familiaris
V298MLASIVNKDGL3Homo sapiens, Mus musculus, Canis lupus familiaris
V305KDGLLVANGSG2Homo sapiens, Mus musculus
V305KDGLLVANGTG1Canis lupus familiaris
V312NGSGFVTREFL1Homo sapiens
V312NGSGFVTHEFL1Mus musculus
V312NGTGFVTREFL1Canis lupus familiaris
W220DIETLWQAEKG3Homo sapiens, Mus musculus, Canis lupus familiaris
W228EKGLVWKQLVN3Homo sapiens, Mus musculus, Canis lupus familiaris
Y238NGLPPYKEISV2Homo sapiens, Canis lupus familiaris
Y238NGLPPYNEISV1Mus musculus
Y437LLQEIYKDMY3Homo sapiens, Mus musculus, Canis lupus familiaris


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