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GABRR1 (gamma-aminobutyric acid type A receptor rho1 subunit)

Identity

Alias_namesgamma-aminobutyric acid (GABA) receptor, rho 1
gamma-aminobutyric acid (GABA) A receptor, rho 1
Other alias-
HGNC (Hugo) GABRR1
LocusID (NCBI) 2569
Atlas_Id 63657
Location 6q15  [Link to chromosome band 6q15]
Location_base_pair Starts at 89177504 and ends at 89217777 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)GABRR1   4090
Cards
Entrez_Gene (NCBI)GABRR1  2569  gamma-aminobutyric acid type A receptor rho1 subunit
Aliases
GeneCards (Weizmann)GABRR1
Ensembl hg19 (Hinxton)ENSG00000146276 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146276 [Gene_View]  chr6:89177504-89217777 [Contig_View]  GABRR1 [Vega]
ICGC DataPortalENSG00000146276
TCGA cBioPortalGABRR1
AceView (NCBI)GABRR1
Genatlas (Paris)GABRR1
WikiGenes2569
SOURCE (Princeton)GABRR1
Genetics Home Reference (NIH)GABRR1
Genomic and cartography
GoldenPath hg38 (UCSC)GABRR1  -     chr6:89177504-89217777 -  6q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRR1  -     6q15   [Description]    (hg19-Feb_2009)
EnsemblGABRR1 - 6q15 [CytoView hg19]  GABRR1 - 6q15 [CytoView hg38]
Mapping of homologs : NCBIGABRR1 [Mapview hg19]  GABRR1 [Mapview hg38]
OMIM137161   
Gene and transcription
Genbank (Entrez)AK296124 AK298948 AK313609 AW135923 BC130344
RefSeq transcript (Entrez)NM_001256703 NM_001256704 NM_001267582 NM_002042
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRR1
Cluster EST : UnigeneHs.99927 [ NCBI ]
CGAP (NCI)Hs.99927
Alternative Splicing GalleryENSG00000146276
Gene ExpressionGABRR1 [ NCBI-GEO ]   GABRR1 [ EBI - ARRAY_EXPRESS ]   GABRR1 [ SEEK ]   GABRR1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2569
GTEX Portal (Tissue expression)GABRR1
Human Protein AtlasENSG00000146276-GABRR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24046   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24046  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24046
Splice isoforms : SwissVarP24046
PhosPhoSitePlusP24046
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rho1_rcpt    GABAAa_rho_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)GABRR1
DMDM Disease mutations2569
Blocks (Seattle)GABRR1
SuperfamilyP24046
Human Protein Atlas [tissue]ENSG00000146276-GABRR1 [tissue]
Peptide AtlasP24046
HPRD15921
IPIIPI00747264   IPI00921480   IPI00924707   IPI00940134   
Protein Interaction databases
DIP (DOE-UCLA)P24046
IntAct (EBI)P24046
FunCoupENSG00000146276
BioGRIDGABRR1
STRING (EMBL)GABRR1
ZODIACGABRR1
Ontologies - Pathways
QuickGOP24046
Ontology : AmiGO###############################################################################################################################################################################################################################################################                            
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                            
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRR1
Atlas of Cancer Signalling NetworkGABRR1
Wikipedia pathwaysGABRR1
Orthology - Evolution
OrthoDB2569
GeneTree (enSembl)ENSG00000146276
Phylogenetic Trees/Animal Genes : TreeFamGABRR1
HOVERGENP24046
HOGENOMP24046
Homologs : HomoloGeneGABRR1
Homology/Alignments : Family Browser (UCSC)GABRR1
Gene fusions - Rearrangements
Fusion : QuiverGABRR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRR1
dbVarGABRR1
ClinVarGABRR1
1000_GenomesGABRR1 
Exome Variant ServerGABRR1
ExAC (Exome Aggregation Consortium)ENSG00000146276
GNOMAD BrowserENSG00000146276
Genetic variants : HAPMAP2569
Genomic Variants (DGV)GABRR1 [DGVbeta]
DECIPHERGABRR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRR1 
Mutations
ICGC Data PortalGABRR1 
TCGA Data PortalGABRR1 
Broad Tumor PortalGABRR1
OASIS PortalGABRR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRR1
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 GABRR1
DgiDB (Drug Gene Interaction Database)GABRR1
DoCM (Curated mutations)GABRR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRR1 (select a term)
intoGenGABRR1
Cancer3DGABRR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137161   
Orphanet
DisGeNETGABRR1
MedgenGABRR1
Genetic Testing Registry GABRR1
NextProtP24046 [Medical]
TSGene2569
GENETestsGABRR1
Target ValidationGABRR1
Huge Navigator GABRR1 [HugePedia]
snp3D : Map Gene to Disease2569
BioCentury BCIQGABRR1
ClinGenGABRR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2569
Chemical/Pharm GKB GenePA28505
Clinical trialGABRR1
Miscellaneous
canSAR (ICR)GABRR1 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRR1
EVEXGABRR1
GoPubMedGABRR1
iHOPGABRR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:19:41 CET 2018

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