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 PLA2G7
Gene summary
Basic gene Info.Gene symbolPLA2G7
Gene namephospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
SynonymsLDL-PLA2|LP-PLA2|PAFAD|PAFAH
CytomapUCSC genome browser: 6p21.2-p12
Type of geneprotein-coding
RefGenesNM_001168357.1,
NM_005084.3,
Description1-alkyl-2-acetylglycerophosphocholine esterase2-acetyl-1-alkylglycerophosphocholine esteraseLDL-PLA(2)LDL-associated phospholipase A2PAF 2-acylhydrolasePAF acetylhydrolasegVIIA-PLA2group-VIIA phospholipase A2lipoprotein-associated phospholipase A2
Modification date20141207
dbXrefs MIM : 601690
HGNC : HGNC
Ensembl : ENSG00000146070
HPRD : 03407
Vega : OTTHUMG00000014789
ProteinUniProt: Q13093
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PLA2G7
BioGPS: 7941
PathwayNCI Pathway Interaction Database: PLA2G7
KEGG: PLA2G7
REACTOME: PLA2G7
Pathway Commons: PLA2G7
ContextiHOP: PLA2G7
ligand binding site mutation search in PubMed: PLA2G7
UCL Cancer Institute: PLA2G7
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0034374low-density lipoprotein particle remodeling8624782
GO:0034440lipid oxidation8624782
GO:0034441plasma lipoprotein particle oxidation8624782
GO:0090026positive regulation of monocyte chemotaxis8624782


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Ligand binding site mutations for PLA2G7

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H351S349LHNSC1
F322Q323PKIRC1
F274G275SSKCM1
A155F156LSKCM1
G152H151YSKCM1
H272H272NSTAD1
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 PLA2G7
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
G152H151Y0.44158155
H272H272N-1.3572423
F274G275S-0.94969123
F322Q323P-0.76668301
A155F156L-0.28863124
H351S349L-0.21958876
(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 PLA2G7 from PDB

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Differential gene expression and gene-gene network for PLA2G7
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 PLA2G7 and the right PPI network was created from samples without mutations in the LBS of PLA2G7. 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 PLA2G7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0010068Coronary Disease26AlteredExpression, Biomarker, GeneticVariation
umls:C0004096Asthma5Biomarker, GeneticVariation
umls:C0038454Stroke5Biomarker, GeneticVariation
umls:C0017661Glomerulonephritis, IGA3Biomarker
umls:C0020523Hypersensitivity, Immediate2Biomarker, GeneticVariation
umls:C3280315Platelet-Activating Factor Acetylhydrolase Deficiency2GeneticVariation
umls:C0025521Metabolism, Inborn Errors1Biomarker

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

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Pharmacological information for PLA2G7
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
InvestigationalDB05256659032Small molecule
ExperimentalDB07821(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PLA2G7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GD7(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE3f97AG152 A155 H272 F274 H351
NTJR-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE3f98CG152 F274 F322 H351
DEPDIETHYL BENZYLPHOSPHONATE3d5eBG152 F274 H351
DFPDIISOPROPYL PHOSPHITE3f9cBG152 F274 H351
DEPDIETHYL BENZYLPHOSPHONATE3d5eAG152 H272 F274 F322 H351
NTJR-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE3f98AG152 H272 F274 F322 H351
NTJR-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE3f98BG152 H272 F274 F322 H351
GD7(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE3f97BG152 H272 F274 H351
DFPDIISOPROPYL PHOSPHITE3f9cAG152 H272 F274 H351


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Conservation information for LBS of PLA2G7
Multiple alignments for Q13093 in multiple species
LBSAA sequence# speciesSpecies
A155SHGLGAFRTIY3Gallus gallus, Mus musculus, Canis lupus familiaris
A155SHGLGAFRTLY1Homo sapiens
F274VIGHSFGGATV2Homo sapiens, Canis lupus familiaris
F274VMGHSFGGATV1Gallus gallus
F274LMGHSFGGATV1Mus musculus
F322INSEYFQYPAN1Homo sapiens
F322INSEKFQWAAN1Gallus gallus
F322INSAKFQTPKD1Mus musculus
F322INSERFQFPEN1Canis lupus familiaris
G152IVFSHGLGAFR2Mus musculus, Canis lupus familiaris
G152VVFSHGLGAFR1Homo sapiens
G152LVFSHGLGAFR1Gallus gallus
H272IAVIGHSFGGA2Homo sapiens, Canis lupus familiaris
H272IAVMGHSFGGA1Gallus gallus
H272IALMGHSFGGA1Mus musculus
H351IRGSVHQNFAD2Homo sapiens, Canis lupus familiaris
H351IKGSVHQSFPD1Gallus gallus
H351IKGSVHQNFDD1Mus musculus
L153VFSHGLGAFRT4Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris
Q352RGSVHQNFADF2Homo sapiens, Canis lupus familiaris
Q352KGSVHQSFPDF1Gallus gallus
Q352KGSVHQNFDDF1Mus musculus
S273AVIGHSFGGAT2Homo sapiens, Canis lupus familiaris
S273AVMGHSFGGAT1Gallus gallus
S273ALMGHSFGGAT1Mus musculus
W298IALDAWMFPLG1Homo sapiens
W298IALDAWMLPVG1Gallus gallus
W298VALDPWMYPVN1Mus musculus
W298IALDAWMLPLD1Canis lupus familiaris
Y160AFRTIYSAIGI2Mus musculus, Canis lupus familiaris
Y160AFRTLYSAIGI1Homo sapiens
Y160AFRTIYSAICI1Gallus gallus


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