Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GABRB1 (gamma-aminobutyric acid type A receptor beta1 subunit)

Identity

Alias_namesgamma-aminobutyric acid (GABA) A receptor, beta 1
Other aliasEIEE45
HGNC (Hugo) GABRB1
LocusID (NCBI) 2560
Atlas_Id 63651
Location 4p12  [Link to chromosome band 4p12]
Location_base_pair Starts at 47031278 and ends at 47426430 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP10D (4p12) / GABRB1 (4p12)CCDC149 (4p15.2) / GABRB1 (4p12)LNX1 (4q12) / GABRB1 (4p12)
ZNF430 (19p12) / GABRB1 (4p12)LNX1 GABRB1CCDC149 GABRB1
ATP10D GABRB1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GABRB1   4081
Cards
Entrez_Gene (NCBI)GABRB1  2560  gamma-aminobutyric acid type A receptor beta1 subunit
AliasesEIEE45
GeneCards (Weizmann)GABRB1
Ensembl hg19 (Hinxton)ENSG00000163288 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163288 [Gene_View]  chr4:47031278-47426430 [Contig_View]  GABRB1 [Vega]
ICGC DataPortalENSG00000163288
TCGA cBioPortalGABRB1
AceView (NCBI)GABRB1
Genatlas (Paris)GABRB1
WikiGenes2560
SOURCE (Princeton)GABRB1
Genetics Home Reference (NIH)GABRB1
Genomic and cartography
GoldenPath hg38 (UCSC)GABRB1  -     chr4:47031278-47426430 +  4p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRB1  -     4p12   [Description]    (hg19-Feb_2009)
EnsemblGABRB1 - 4p12 [CytoView hg19]  GABRB1 - 4p12 [CytoView hg38]
Mapping of homologs : NCBIGABRB1 [Mapview hg19]  GABRB1 [Mapview hg38]
OMIM137190   617153   
Gene and transcription
Genbank (Entrez)AK094991 AK124778 AK225167 AK225686 AK293691
RefSeq transcript (Entrez)NM_000812
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRB1
Cluster EST : UnigeneHs.633316 [ NCBI ]
CGAP (NCI)Hs.633316
Alternative Splicing GalleryENSG00000163288
Gene ExpressionGABRB1 [ NCBI-GEO ]   GABRB1 [ EBI - ARRAY_EXPRESS ]   GABRB1 [ SEEK ]   GABRB1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2560
GTEX Portal (Tissue expression)GABRB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18505   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18505  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18505
Splice isoforms : SwissVarP18505
PhosPhoSitePlusP18505
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAb_rcpt    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)GABRB1
DMDM Disease mutations2560
Blocks (Seattle)GABRB1
SuperfamilyP18505
Human Protein AtlasENSG00000163288
Peptide AtlasP18505
HPRD15924
IPIIPI00299122   IPI01009264   IPI00964595   IPI00967697   
Protein Interaction databases
DIP (DOE-UCLA)P18505
IntAct (EBI)P18505
FunCoupENSG00000163288
BioGRIDGABRB1
STRING (EMBL)GABRB1
ZODIACGABRB1
Ontologies - Pathways
QuickGOP18505
Ontology : AmiGOGABA-A receptor activity  GABA-A receptor activity  nuclear envelope  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  transport  ion transport  signal transduction  gamma-aminobutyric acid signaling pathway  response to toxic substance  ligand-gated ion channel activity  central nervous system neuron development  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  dendrite  response to progesterone  ion transmembrane transport  chloride channel complex  ovulation cycle  postsynaptic membrane  GABA receptor binding  cellular response to histamine  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  
Ontology : EGO-EBIGABA-A receptor activity  GABA-A receptor activity  nuclear envelope  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  transport  ion transport  signal transduction  gamma-aminobutyric acid signaling pathway  response to toxic substance  ligand-gated ion channel activity  central nervous system neuron development  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  dendrite  response to progesterone  ion transmembrane transport  chloride channel complex  ovulation cycle  postsynaptic membrane  GABA receptor binding  cellular response to histamine  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    Serotonergic synapse    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRB1
Atlas of Cancer Signalling NetworkGABRB1
Wikipedia pathwaysGABRB1
Orthology - Evolution
OrthoDB2560
GeneTree (enSembl)ENSG00000163288
Phylogenetic Trees/Animal Genes : TreeFamGABRB1
HOVERGENP18505
HOGENOMP18505
Homologs : HomoloGeneGABRB1
Homology/Alignments : Family Browser (UCSC)GABRB1
Gene fusions - Rearrangements
Fusion: TCGALNX1 GABRB1
Fusion: TCGACCDC149 GABRB1
Fusion: TCGAATP10D GABRB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRB1
dbVarGABRB1
ClinVarGABRB1
1000_GenomesGABRB1 
Exome Variant ServerGABRB1
ExAC (Exome Aggregation Consortium)GABRB1 (select the gene name)
Genetic variants : HAPMAP2560
Genomic Variants (DGV)GABRB1 [DGVbeta]
DECIPHERGABRB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRB1 
Mutations
ICGC Data PortalGABRB1 
TCGA Data PortalGABRB1 
Broad Tumor PortalGABRB1
OASIS PortalGABRB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABRB1
DgiDB (Drug Gene Interaction Database)GABRB1
DoCM (Curated mutations)GABRB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRB1 (select a term)
intoGenGABRB1
Cancer3DGABRB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137190    617153   
Orphanet
MedgenGABRB1
Genetic Testing Registry GABRB1
NextProtP18505 [Medical]
TSGene2560
GENETestsGABRB1
Target ValidationGABRB1
Huge Navigator GABRB1 [HugePedia]
snp3D : Map Gene to Disease2560
BioCentury BCIQGABRB1
ClinGenGABRB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2560
Chemical/Pharm GKB GenePA28495
Clinical trialGABRB1
Miscellaneous
canSAR (ICR)GABRB1 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRB1
EVEXGABRB1
GoPubMedGABRB1
iHOPGABRB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:09:04 CEST 2017

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