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 GLRA3
Gene summary
Basic gene Info.Gene symbolGLRA3
Gene nameglycine receptor, alpha 3
Synonyms-
CytomapUCSC genome browser: 4q34.1
Type of geneprotein-coding
RefGenesNM_001042543.2,
NM_006529.3,
Descriptionglycine receptor subunit alpha-3glycine receptor, alpha-3 polypeptideligand gated ion channel
Modification date20141207
dbXrefs MIM : 600421
HGNC : HGNC
Ensembl : ENSG00000145451
HPRD : 02688
Vega : OTTHUMG00000149816
ProteinUniProt: O75311
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GLRA3
BioGPS: 8001
PathwayNCI Pathway Interaction Database: GLRA3
KEGG: GLRA3
REACTOME: GLRA3
Pathway Commons: GLRA3
ContextiHOP: GLRA3
ligand binding site mutation search in PubMed: GLRA3
UCL Cancer Institute: GLRA3
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 GLRA3
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
R98Q99HBLCA1
R98R98CCOAD1
F240C242YLUAD1
L160L160FSKCM1
R98R98CSKCM1
R98R98CUCEC1
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 GLRA3
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
L160L160F-1.4543401
R98Q99H-1.1018772
R98R98C-0.8710116
F240C242Y-0.49034464
(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 GLRA3 from PDB

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Differential gene expression and gene-gene network for GLRA3
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 GLRA3 and the right PPI network was created from samples without mutations in the LBS of GLRA3. 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 GLRA3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for GLRA3
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|nutraceutical|vet_approvedDB00145GlycineSmall molecule
Approved|withdrawnDB00431LindaneSmall molecule
ExperimentalDB00466PicrotoxinSmall molecule
Approved|vet_approvedDB00602IvermectinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLRA3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of GLRA3
Multiple alignments for O75311 in multiple species
LBSAA sequence# speciesSpecies
E190CIMQLESFGYT2Homo sapiens, Mus musculus
E190CNFDLVSYAHT1Caenorhabditis elegans
F192MQLESFGYTMN2Homo sapiens, Mus musculus
F192FDLVSYAHTMN1Caenorhabditis elegans
F240YNTGKFTCIEV2Homo sapiens, Mus musculus
F240TNTGSYGCLRM1Caenorhabditis elegans
F77VTCNIFINSFG2Homo sapiens, Mus musculus
F77VRVNIMIRMLS1Caenorhabditis elegans
F96YRVNIFLRQKW2Homo sapiens, Mus musculus
F96YSIQLTFREQW1Caenorhabditis elegans
L150TTDNKLLRIFK2Homo sapiens, Mus musculus
L150DMENMFLRIYP1Caenorhabditis elegans
L160KNGNVLYSIRL2Homo sapiens, Mus musculus
L160PDGKILYSSRI1Caenorhabditis elegans
R152DNKLLRIFKNG2Homo sapiens, Mus musculus
R152ENMFLRIYPDG1Caenorhabditis elegans
R98VNIFLRQKWND2Homo sapiens, Mus musculus
R98IQLTFREQWID1Caenorhabditis elegans
T237TKHYNTGKFTC2Homo sapiens, Mus musculus
T237TSHTNTGSYGC1Caenorhabditis elegans
Y235YCTKHYNTGKF2Homo sapiens, Mus musculus
Y235DCTSHTNTGSY1Caenorhabditis elegans


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