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 GRM5
Gene summary
Basic gene Info.Gene symbolGRM5
Gene nameglutamate receptor, metabotropic 5
SynonymsGPRC1E|MGLUR5|PPP1R86|mGlu5
CytomapUCSC genome browser: 11q14.3
Type of geneprotein-coding
RefGenesNM_000842.4,
NM_001143831.2,
Descriptionmetabotropic glutamate receptor 5protein phosphatase 1, regulatory subunit 86
Modification date20141207
dbXrefs MIM : 604102
HGNC : HGNC
Ensembl : ENSG00000168959
ProteinUniProt: P41594
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GRM5
BioGPS: 2915
PathwayNCI Pathway Interaction Database: GRM5
KEGG: GRM5
REACTOME: GRM5
Pathway Commons: GRM5
ContextiHOP: GRM5
ligand binding site mutation search in PubMed: GRM5
UCL Cancer Institute: GRM5
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


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Ligand binding site mutations for GRM5
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
M802I800TCOAD1
S654L653VHNSC1
D305S304RHNSC1
G624A623SKIRC1
D82D82GLUAD1
G628L627QLUAD1
A174A174TLUAD1
W100S98YLUAD1
G628G628CLUAD1
L744L744VLUAD1
M189M189ILUSC1
S805S805LSKCM1
G460G460RSKCM1
I79E77KSKCM1
A813A813TSTAD1
S151S151PSTAD1
W100S102LSTAD1
N459D457NSTAD1
M189V191AUCEC1
S805F804LUCEC1
L86N88SUCEC1
T175S176RUCEC1
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 GRM5
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
S805S805L0.15987359
W100S102L0.047232609
T175S176R0.016099572
M802I800T-1.3594058
M189V191A-1.3209327
D305S304R-1.2666158
S654L653V-1.1231969
I79E77K-1.1112755
M189M189I-0.99456777
L744L744V-0.9794319
G628L627Q-0.86659562
S805F804L-0.83406065
D82D82G-0.79984183
L86N88S-0.77610512
S151S151P-0.69841562
A813A813T-0.64867617
W100S98Y-0.61697965
N459D457N-0.44805551
G624A623S-0.40864995
G460G460R-0.36292471
G628G628C-0.2609352
A174A174T-0.015486577
(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 GRM5 from PDB

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Differential gene expression and gene-gene network for GRM5
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 GRM5 and the right PPI network was created from samples without mutations in the LBS of GRM5. 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 GRM5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1263846Attention Deficit Disorder with Hyperactivity3Biomarker, GeneticVariation
umls:C0038220Status Epilepticus2Biomarker
umls:C0236736Cocaine-Related Disorders1Biomarker
umls:C0011882Diabetic Neuropathies1Biomarker
umls:C0014556Epilepsy, Temporal Lobe1Biomarker
umls:C0027796Neuralgia1Biomarker
umls:C0236969Substance-Related Disorders1Biomarker

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

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Pharmacological information for GRM5
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|investigationalDB00659AcamprosateSmall molecule
InvestigationalDB05070ADX10059Small molecule
InvestigationalDB06060ADX-48621Small molecule
ApprovedDB06201RufinamideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GRM5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
51D3-CHLORO-4-FLUORO-5-[6-(1H-PYRAZOL-1-YL)PYRIMIDIN-4- YL]BENZONITRILE5cgcAG624 G628 S654
51E3-CHLORO-5-[6-(5-FLUOROPYRIDIN-2-YL)PYRIMIDIN-4- YL]BENZONITRILE5cgdAG624 S654
2U8METHYL (3AR,4S,7AR)-4-HYDROXY-4-[(3-METHYLPHENYL) ETHYNYL]OCTAHYDRO-1H-INDOLE-1-CARBOXYLATE4oo9AG624 S654 L744 M802 S805 A813
MGMAGNESIUM(2+)3lmkAI79 D82 L86
MGMAGNESIUM(2+)3lmkBI79 D82 L86
MGMAGNESIUM(2+)3lmkAM189 N459 G460
GLUL-GLUTAMIC ACID3lmkBS151 A174 T175 D305
GLUL-GLUTAMIC ACID3lmkAW100 S151 A174 T175 D305


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Conservation information for LBS of GRM5
Multiple alignments for P41594 in multiple species
LBSAA sequence# speciesSpecies
A174QIAYSATSMDL3Homo sapiens, Mus musculus, Rattus norvegicus
A810SVSLSATVALG3Homo sapiens, Mus musculus, Rattus norvegicus
A813LSATVALGCMF3Homo sapiens, Mus musculus, Rattus norvegicus
D305LLLGSDGWADR3Homo sapiens, Mus musculus, Rattus norvegicus
D461FDENGDSPGRY3Homo sapiens, Mus musculus, Rattus norvegicus
D82ERINSDPTLLP3Homo sapiens, Mus musculus, Rattus norvegicus
F188TLFKYFMRVVP3Homo sapiens, Mus musculus, Rattus norvegicus
F788IIWLAFVPIYF3Homo sapiens, Mus musculus, Rattus norvegicus
G306LLGSDGWADRY3Homo sapiens, Mus musculus, Rattus norvegicus
G460LFDENGDSPGR3Homo sapiens, Mus musculus, Rattus norvegicus
G624YIILAGICLGY3Homo sapiens, Mus musculus, Rattus norvegicus
G628AGICLGYLCTF3Homo sapiens, Mus musculus, Rattus norvegicus
I625IILAGICLGYL3Homo sapiens, Mus musculus, Rattus norvegicus
I651LQRIGIGLSPA3Homo sapiens, Mus musculus, Rattus norvegicus
I79HTLERINSDPT3Homo sapiens, Mus musculus, Rattus norvegicus
K182MDLSDKTLFKY3Homo sapiens, Mus musculus, Rattus norvegicus
K396HVQDSKMGFVI3Homo sapiens, Mus musculus, Rattus norvegicus
L179ATSMDLSDKTL3Homo sapiens, Mus musculus, Rattus norvegicus
L744GVVTPLGYNGL3Homo sapiens, Mus musculus, Rattus norvegicus
L85NSDPTLLPNIT3Homo sapiens, Mus musculus, Rattus norvegicus
L86SDPTLLPNITL3Homo sapiens, Mus musculus, Rattus norvegicus
M189LFKYFMRVVPS3Homo sapiens, Mus musculus, Rattus norvegicus
M802YKIITMCFSVS3Homo sapiens, Mus musculus, Rattus norvegicus
N459ILFDENGDSPG3Homo sapiens, Mus musculus, Rattus norvegicus
N747TPLGYNGLLIL3Homo sapiens, Mus musculus, Rattus norvegicus
N80TLERINSDPTL3Homo sapiens, Mus musculus, Rattus norvegicus
P655GIGLSPAMSYS3Homo sapiens, Mus musculus, Rattus norvegicus
P743LGVVTPLGYNG3Homo sapiens, Mus musculus, Rattus norvegicus
S151VIGPGSSSVAI3Homo sapiens, Mus musculus, Rattus norvegicus
S152IGPGSSSVAIQ3Homo sapiens, Mus musculus, Rattus norvegicus
S173PQIAYSATSMD3Homo sapiens, Mus musculus, Rattus norvegicus
S654IGIGLSPAMSY3Homo sapiens, Mus musculus, Rattus norvegicus
S658LSPAMSYSALV3Homo sapiens, Mus musculus, Rattus norvegicus
S805ITMCFSVSLSA3Homo sapiens, Mus musculus, Rattus norvegicus
S809FSVSLSATVAL3Homo sapiens, Mus musculus, Rattus norvegicus
T175IAYSATSMDLS3Homo sapiens, Mus musculus, Rattus norvegicus
V806TMCFSVSLSAT3Homo sapiens, Mus musculus, Rattus norvegicus
W100IRDSCWHSAVA3Homo sapiens, Mus musculus, Rattus norvegicus
W785TTCIIWLAFVP3Homo sapiens, Mus musculus, Rattus norvegicus
Y223HTEGNYGESGM3Homo sapiens, Mus musculus, Rattus norvegicus
Y64AVREQYGIQRV3Homo sapiens, Mus musculus, Rattus norvegicus
Y659SPAMSYSALVT3Homo sapiens, Mus musculus, Rattus norvegicus


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