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 GABBR1
Gene summary
Basic gene Info.Gene symbolGABBR1
Gene namegamma-aminobutyric acid (GABA) B receptor, 1
SynonymsGABABR1|GABBR1-3|GB1|GPRC3A|dJ271M21.1.1|dJ271M21.1.2
CytomapUCSC genome browser: 6p21.31
Type of geneprotein-coding
RefGenesNM_001470.2,
NM_021903.2,NM_021904.2,NM_021905.2,
DescriptionGABA-BR1GABAB, subunit 1cgamma-aminobutyric acid type B receptor subunit 1seven transmembrane helix receptor
Modification date20141207
dbXrefs MIM : 603540
HGNC : HGNC
Ensembl : ENSG00000204681
HPRD : 04644
Vega : OTTHUMG00000031095
ProteinUniProt: Q9UBS5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GABBR1
BioGPS: 2550
PathwayNCI Pathway Interaction Database: GABBR1
KEGG: GABBR1
REACTOME: GABBR1
Pathway Commons: GABBR1
ContextiHOP: GABBR1
ligand binding site mutation search in PubMed: GABBR1
UCL Cancer Institute: GABBR1
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:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway10328880
GO:0007214gamma-aminobutyric acid signaling pathway9872316


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Ligand binding site mutations for GABBR1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y367T369ACOAD2
F366G364RBLCA1
F366G364EBRCA1
F366G364ECOAD1
M429N431SOV1
G268S266FSKCM1
V318V318ASTAD1
H287R285QUCEC1
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 GABBR1
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
V318V318A-1.7327029
Y367T369A-1.09817
M429N431S-1.0837108
H287R285Q-1.0623042
G268S266F-0.88677956
F366G364R-0.38938387
F366G364E-0.34461882
(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 GABBR1 from PDB
PDB IDPDB titlePDB structure
4MQFCrystal structure of the extracellular domain of human GABA(B) receptor bound to the antagonist 2-hydroxysaclofen

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Differential gene expression and gene-gene network for GABBR1
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 GABBR1 and the right PPI network was created from samples without mutations in the LBS of GABBR1. 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 GABBR1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001973Alcoholism3Biomarker, GeneticVariation
umls:C0004352Autistic Disorder2Biomarker
umls:C0236736Cocaine-Related Disorders1Biomarker
umls:C0424295Hyperkinesis1Biomarker

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

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Pharmacological information for GABBR1
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
ApprovedDB00181BaclofenSmall molecule
Approved|investigationalDB00837ProgabideSmall molecule
ApprovedDB01080VigabatrinSmall molecule
InvestigationalDB05010SGS742Small molecule
InvestigationalDB08891ArbaclofenSmall molecule
InvestigationalDB08892Arbaclofen PlacarbilSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GABBR1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of GABBR1
Multiple alignments for Q9UBS5 in multiple species
LBSAA sequence# speciesSpecies
C246ILMPGCSSVST3Homo sapiens, Mus musculus, Rattus norvegicus
E445NMTSQEFVEKL3Homo sapiens, Mus musculus, Rattus norvegicus
E466TGGFQEAPLAY3Homo sapiens, Mus musculus, Rattus norvegicus
F366IIVGLFYETEA3Homo sapiens, Mus musculus, Rattus norvegicus
G181FPMSGGWPGGQ3Homo sapiens, Mus musculus, Rattus norvegicus
G268IVLSYGSSSPA3Homo sapiens, Mus musculus, Rattus norvegicus
H287TFFRTHPSATL3Homo sapiens, Mus musculus, Rattus norvegicus
I393YVWFLIGWYAD3Homo sapiens, Mus musculus, Rattus norvegicus
K449QEFVEKLTKRL3Homo sapiens, Mus musculus, Rattus norvegicus
M429TTEIVMLNPAN3Homo sapiens, Mus musculus, Rattus norvegicus
S247LMPGCSSVSTL3Homo sapiens, Mus musculus, Rattus norvegicus
S270LSYGSSSPALS3Homo sapiens, Mus musculus, Rattus norvegicus
V318QQTTEVFTSTL3Homo sapiens, Mus musculus, Rattus norvegicus
W182PMSGGWPGGQA3Homo sapiens, Mus musculus, Rattus norvegicus
W395WFLIGWYADNW3Homo sapiens, Mus musculus, Rattus norvegicus
Y367IVGLFYETEAR3Homo sapiens, Mus musculus, Rattus norvegicus
Y396FLIGWYADNWF3Homo sapiens, Mus musculus, Rattus norvegicus


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