Summary ?
GeneID2550
SymbolGABBR1
SynonymsGABABR1|GABBR1-3|GB1|GPRC3A
Descriptiongamma-aminobutyric acid type B receptor subunit 1
ReferenceMIM:603540|HGNC:HGNC:4070|Ensembl:ENSG00000204681|HPRD:04644|Vega:OTTHUMG00000031095
Gene typeprotein-coding
Map location6p21.31
Pascal p-value1E-12
Sherlock p-value0.351
Fetal beta-0.847
DMG1 (# studies)
SupportLIGAND GATED ION SIGNALING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 3
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
AssociationA combined odds ratio method (Sun et al. 2008), association studies2Link to SZGene
GSMA_IGenome scan meta-analysisPsr: 0.033 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 4 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0246 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg21552290629578423GABBR18.92E-50.4440.027DMG:Wockner_2014
cg24628013629580367GABBR12.66E-40.3530.038DMG:Wockner_2014
cg17806418629599319GABBR15.478E-40.3980.049DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
PREPL0.950.93
NSF0.940.94
ATP6V1B20.930.93
SYNJ10.920.92
GLS0.920.92
NCOA70.910.90
GABRA10.910.88
SLC3A10.900.92
ATP6V0A10.900.94
EFR3A0.900.85
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
BCL7C-0.44-0.51
EFEMP2-0.42-0.43
RAB13-0.41-0.50
NME4-0.41-0.53
RAB34-0.40-0.45
IRF7-0.40-0.51
CLEC3B-0.39-0.50
WDR86-0.38-0.34
AC006276.2-0.37-0.34
C1orf61-0.37-0.44

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004965GABA-B receptor activityIEAGABA, glutamate (GO term level: 7)-
GO:0004965GABA-B receptor activityTASGABA, glutamate (GO term level: 7)9069281 
GO:0004872receptor activityIEA-
GO:0004930G-protein coupled receptor activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007214gamma-aminobutyric acid signaling pathwayTASGABA, Neurotransmitter (GO term level: 8)9069281 
GO:0007186G-protein coupled receptor protein signaling pathwayIEA-
GO:0006464protein modification processIEA-
GO:0007194negative regulation of adenylate cyclase activityTAS9069281 
GO:0007165signal transductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0045211postsynaptic membraneIEASynap, Neurotransmitter (GO term level: 5)-
GO:0045202synapseIEAneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0005576extracellular regionIEA-
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneTAS9753614 
GO:0030054cell junctionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272195All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920449All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME CLASS C 3 METABOTROPIC GLUTAMATE PHEROMONE RECEPTORS 1511All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING 805368All SZGR 2.0 genes in this pathway
REACTOME G ALPHA I SIGNALLING EVENTS 195114All SZGR 2.0 genes in this pathway
REACTOME GPCR LIGAND BINDING 408246All SZGR 2.0 genes in this pathway
REACTOME INHIBITION OF VOLTAGE GATED CA2 CHANNELS VIA GBETA GAMMA SUBUNITS 2517All SZGR 2.0 genes in this pathway
REACTOME GABA B RECEPTOR ACTIVATION 3826All SZGR 2.0 genes in this pathway
REACTOME GABA RECEPTOR ACTIVATION 5240All SZGR 2.0 genes in this pathway
REACTOME POTASSIUM CHANNELS 9868All SZGR 2.0 genes in this pathway
REACTOME INWARDLY RECTIFYING K CHANNELS 3120All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA PROGENITOR UP 3925All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
FAELT B CLL WITH VH REARRANGEMENTS UP 4834All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412249All SZGR 2.0 genes in this pathway
MOREAUX B LYMPHOCYTE MATURATION BY TACI UP 9258All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
LEE AGING CEREBELLUM UP 8458All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE NOT BY 4NQO IN WS 4026All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE NOT BY GAMMA IN OLD 3119All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE NOT BY GAMMA IN WS 3322All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE UP 226164All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE DN 2112All SZGR 2.0 genes in this pathway
YOKOE CANCER TESTIS ANTIGENS 3822All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP 374247All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
CHANG CORE SERUM RESPONSE DN 209137All SZGR 2.0 genes in this pathway
HINATA NFKB TARGETS FIBROBLAST UP 8460All SZGR 2.0 genes in this pathway
GUTIERREZ WALDENSTROEMS MACROGLOBULINEMIA 1 UP 95All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN 225124All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS DURATION CORR DN 14690All SZGR 2.0 genes in this pathway
BILANGES SERUM SENSITIVE GENES 9054All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
LE NEURONAL DIFFERENTIATION UP 1813All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway
PECE MAMMARY STEM CELL DN 14688All SZGR 2.0 genes in this pathway
ZWANG EGF INTERVAL DN 214124All SZGR 2.0 genes in this pathway