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 P2RY12
Gene summary
Basic gene Info.Gene symbolP2RY12
Gene namepurinergic receptor P2Y, G-protein coupled, 12
SynonymsADPG-R|BDPLT8|HORK3|P2T(AC)|P2Y(12)R|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999
CytomapUCSC genome browser: 3q24-q25
Type of geneprotein-coding
RefGenesNM_022788.4,
NM_176876.2,
DescriptionADP-glucose receptorG-protein coupled receptor SP1999Gi-coupled ADP receptor HORK3P2Y purinoceptor 12P2Y12 platelet ADP receptorpurinergic receptor P2RY12putative G-protein coupled receptor
Modification date20141222
dbXrefs MIM : 600515
HGNC : HGNC
HPRD : 02743
ProteinUniProt: Q9H244
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_P2RY12
BioGPS: 64805
PathwayNCI Pathway Interaction Database: P2RY12
KEGG: P2RY12
REACTOME: P2RY12
Pathway Commons: P2RY12
ContextiHOP: P2RY12
ligand binding site mutation search in PubMed: P2RY12
UCL Cancer Institute: P2RY12
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:0007186G-protein coupled receptor signaling pathway11104774
GO:0035589G-protein coupled purinergic nucleotide receptor signaling pathway11104774


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Ligand binding site mutations for P2RY12

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
I120D121NUCEC2
S176S176YCOAD1
S55I53TKIRC1
I204V205FLUAD1
C97Q98HSTAD1
K64L63FSTAD1
R93L92PSTAD1
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 P2RY12
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
K64L63F-1.6012913
I204V205F-1.1604235
S55I53T-1.0225263
R93L92P-0.92007922
C97Q98H-0.81766094
I120D121N-0.6773079
S176S176Y-0.22254506
(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 P2RY12 from PDB
PDB IDPDB titlePDB structure
4NTJStructure of the human P2Y12 receptor in complex with an antithrombotic drug

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Differential gene expression and gene-gene network for P2RY12
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 P2RY12 and the right PPI network was created from samples without mutations in the LBS of P2RY12. 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 P2RY12
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027051Myocardial Infarction5Biomarker, GeneticVariation
umls:C0040053Thrombosis2Biomarker
umls:C0019080Hemorrhage2Biomarker, GeneticVariation
umls:C1853278Bleeding Disorder Due To P2RY12 Defect1Biomarker, GeneticVariation
umls:C0024141Lupus Erythematosus, Systemic1AlteredExpression, Biomarker

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

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Pharmacological information for P2RY12

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00208TiclopidineSmall molecule
Approved|investigationalDB00374TreprostinilSmall molecule
Approved|nutraceuticalDB00758ClopidogrelSmall molecule
ApprovedDB01240EpoprostenolSmall molecule
InvestigationalDB04902AZD6140Small molecule
ApprovedDB06209PrasugrelSmall molecule
ApprovedDB06441CangrelorSmall molecule
ApprovedDB08816TicagrelorSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of P2RY12 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CLRCHOLESTEROL4ntjAI120 I204
6AD2-METHYLTHIO-ADENOSINE-5'-DIPHOSPHATE2-(METHYLSULFANYL)ADENOSINE 5'-(TRIHYDROGEN DIPHOSPHATE)4pxzAR93 C97
6AT2-METHYLTHIO-ADENOSINE-5'-TRIPHOSPHATE2-(METHYLSULFANYL)ADENOSINE 5'-(TETRAHYDROGEN TRIPHOSPHATE)4py0AR93 C97 S176
CLRCHOLESTEROL4pxzAS55 K64


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Conservation information for LBS of P2RY12
Multiple alignments for Q9H244 in multiple species
LBSAA sequence# speciesSpecies
C175KNVKKCSFLKS1Homo sapiens
C175KDVTKCSFLKS1Mus musculus
C175KDITKCSFLKS1Rattus norvegicus
C194IVNYICQVIFW3Homo sapiens, Mus musculus, Rattus norvegicus
C97LRTLVCQVTSV2Mus musculus, Rattus norvegicus
C97LRTFVCQVTSV1Homo sapiens
F106SVTFYFTMYIS2Mus musculus, Rattus norvegicus
F106SVIFYFTMYIS1Homo sapiens
F153IWAFMFLLSLP2Homo sapiens, Rattus norvegicus
F153IWAFMFLISLP1Mus musculus
F252ICFVPFHFARI3Homo sapiens, Mus musculus, Rattus norvegicus
H187FGLVWHEIVNY3Homo sapiens, Mus musculus, Rattus norvegicus
I120LGLITIDRYLK2Mus musculus, Rattus norvegicus
I120LGLITIDRYQK1Homo sapiens
I200QVIFWINFLIV3Homo sapiens, Mus musculus, Rattus norvegicus
I204WINFLIVIVCY3Homo sapiens, Mus musculus, Rattus norvegicus
I23TRDYKITQVLF1Homo sapiens
I23VRDYKITQVLF1Mus musculus
I23SRDYKITQVLF1Rattus norvegicus
I61KSNFIIFLKNT3Homo sapiens, Mus musculus, Rattus norvegicus
I68LKNTVISDLLM3Homo sapiens, Mus musculus, Rattus norvegicus
K142NLLGAKILSVV2Homo sapiens, Mus musculus
K142NLLGAKILSVA1Rattus norvegicus
K173RDKNVKKCSFL1Homo sapiens
K173KDKDVTKCSFL1Mus musculus
K173KDKDITKCSFL1Rattus norvegicus
K174DKNVKKCSFLK1Homo sapiens
K174DKDVTKCSFLK1Mus musculus
K174DKDITKCSFLK1Rattus norvegicus
K179KCSFLKSEFGL3Homo sapiens, Mus musculus, Rattus norvegicus
K280TLFYVKESTLW3Homo sapiens, Mus musculus, Rattus norvegicus
K64FIIFLKNTVIS3Homo sapiens, Mus musculus, Rattus norvegicus
L155AFMFLLSLPNM2Homo sapiens, Rattus norvegicus
L155AFMFLISLPNM1Mus musculus
L203FWINFLIVIVC3Homo sapiens, Mus musculus, Rattus norvegicus
L27KITQVLFPLLY3Homo sapiens, Mus musculus, Rattus norvegicus
L276TAENTLFYVKE1Homo sapiens
L276SAENTLFYVKE1Mus musculus
L276NAENTLFYVKE1Rattus norvegicus
N159LLSLPNMILTN2Homo sapiens, Rattus norvegicus
N159LISLPNMILTN1Mus musculus
N191WHEIVNYICQV3Homo sapiens, Mus musculus, Rattus norvegicus
N65IIFLKNTVISD3Homo sapiens, Mus musculus, Rattus norvegicus
Q263PYTLSQTRAVF2Mus musculus, Rattus norvegicus
Q263PYTLSQTRDVF1Homo sapiens
R256PFHFARIPYTL3Homo sapiens, Mus musculus, Rattus norvegicus
R93GTGPLRTFVCQ1Homo sapiens
R93GAGPLRTLVCQ1Mus musculus
R93GAGHLRTLVCQ1Rattus norvegicus
S101VCQVTSVTFYF2Mus musculus, Rattus norvegicus
S101VCQVTSVIFYF1Homo sapiens
S156FMFLLSLPNMI2Homo sapiens, Rattus norvegicus
S156FMFLISLPNMI1Mus musculus
S176NVKKCSFLKSE1Homo sapiens
S176DVTKCSFLKSE1Mus musculus
S176DITKCSFLKSE1Rattus norvegicus
S282FYVKESTLWLT3Homo sapiens, Mus musculus, Rattus norvegicus
S55FFQIRSKSNFI3Homo sapiens, Mus musculus, Rattus norvegicus
V102CQVTSVTFYFT2Mus musculus, Rattus norvegicus
V102CQVTSVIFYFT1Homo sapiens
V190VWHEIVNYICQ3Homo sapiens, Mus musculus, Rattus norvegicus
V207FLIVIVCYSLI2Mus musculus, Rattus norvegicus
V207FLIVIVCYTLI1Homo sapiens
W149LSVVIWAFMFL2Homo sapiens, Mus musculus
W149LSVAIWAFMFL1Rattus norvegicus
W285KESTLWLTSLN3Homo sapiens, Mus musculus, Rattus norvegicus
Y105TSVTFYFTMYI2Mus musculus, Rattus norvegicus
Y105TSVIFYFTMYI1Homo sapiens
Y109FYFTMYISISF3Homo sapiens, Mus musculus, Rattus norvegicus
Y259FARIPYTLSQT3Homo sapiens, Mus musculus, Rattus norvegicus
Y278ENTLFYVKEST3Homo sapiens, Mus musculus, Rattus norvegicus


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