GABRE (gamma-aminobutyric acid type A receptor epsilon subunit)

1. Identity

Alias_names
General Information
Other alias-
HGNC (Hugo) GABRE
LocusID (NCBI) 2564
Atlas_Id 55007
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 151953124 and ends at 151974679 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)
GABRE (Xq28) / GABRE (Xq28)GABRE (Xq28) / JUP (17q21.2)GABRE (Xq28) / PTPRM (18p11.23)
GABRE (Xq28) / SYNPO2 (4q26)GAS7 (17p13.1) / GABRE (Xq28)PPWD1 (5q12.3) / GABRE (Xq28)

2. DNA/RNA

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

 

3. External links

Nomenclature
HGNC (Hugo)GABRE   4085
Cards
Entrez_Gene (NCBI)GABRE  2564  gamma-aminobutyric acid type A receptor epsilon subunit
Aliases
GeneCards (Weizmann)GABRE
Ensembl hg19 (Hinxton)ENSG00000102287 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102287 [Gene_View] &nbspENSG00000102287 [Sequence]  chrX:151953124-151974679 [Contig_View]  GABRE [Vega]
ICGC DataPortalENSG00000102287
TCGA cBioPortalGABRE
AceView (NCBI)GABRE
Genatlas (Paris)GABRE
WikiGenes2564
SOURCE (Princeton)GABRE
Genetics Home Reference (NIH)GABRE
Genomic and cartography
GoldenPath hg38 (UCSC)GABRE  -     chrX:151953124-151974679 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRE  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblGABRE - Xq28 [CytoView hg19]  GABRE - Xq28 [CytoView hg38]
Mapping of homologs : NCBIGABRE [Mapview hg19]  GABRE [Mapview hg38]
OMIM300093   
Gene and transcription
Genbank (Entrez)AF086385 AK124085 AK299174 AK303072 AL603607
RefSeq transcript (Entrez)NM_004961 NM_021984 NM_021987 NM_021990
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRE
Cluster EST : UnigeneHs.22785 [ NCBI ]
CGAP (NCI)Hs.22785
Alternative Splicing GalleryENSG00000102287
Gene ExpressionGABRE [ NCBI-GEO ]   GABRE [ EBI - ARRAY_EXPRESS ]   GABRE [ SEEK ]   GABRE [ MEM ]
Gene Expression Viewer (FireBrowse)GABRE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)2564
GTEX Portal (Tissue expression)GABRE
Human Protein AtlasENSG00000102287-GABRE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78334   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78334  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78334
Splice isoforms : SwissVarP78334
PhosPhoSitePlusP78334
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAe_rcpt    Neur_chan_lig-bd    Neur_chan_lig-bd_sf    Neur_channel    Neuro-gated_channel_TM_sf    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)GABRE
DMDM Disease mutations2564
Blocks (Seattle)GABRE
SuperfamilyP78334
Human Protein Atlas [tissue]ENSG00000102287-GABRE [tissue]
Peptide AtlasP78334
HPRD02104
IPIIPI00297725   IPI00910499   IPI00647456   IPI00926542   IPI00926344   
Protein Interaction databases
DIP (DOE-UCLA)P78334
IntAct (EBI)P78334
FunCoupENSG00000102287
BioGRIDGABRE
STRING (EMBL)GABRE
ZODIACGABRE
Ontologies - Pathways
QuickGOP78334
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  negative regulation of chloride transport  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  negative regulation of chloride transport  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRE
Atlas of Cancer Signalling NetworkGABRE
Wikipedia pathwaysGABRE
Orthology - Evolution
OrthoDB2564
GeneTree (enSembl)ENSG00000102287
Phylogenetic Trees/Animal Genes : TreeFamGABRE
HOGENOMP78334
Homologs : HomoloGeneGABRE
Homology/Alignments : Family Browser (UCSC)GABRE
Gene fusions - Rearrangements
Fusion : QuiverGABRE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRE
dbVarGABRE
ClinVarGABRE
1000_GenomesGABRE 
Exome Variant ServerGABRE
ExAC (Exome Aggregation Consortium)ENSG00000102287
GNOMAD BrowserENSG00000102287
Varsome BrowserGABRE
Genetic variants : HAPMAP2564
Genomic Variants (DGV)GABRE [DGVbeta]
DECIPHERGABRE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRE 
Mutations
ICGC Data PortalGABRE 
TCGA Data PortalGABRE 
Broad Tumor PortalGABRE
OASIS PortalGABRE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRE
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch GABRE
DgiDB (Drug Gene Interaction Database)GABRE
DoCM (Curated mutations)GABRE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRE (select a term)
intoGenGABRE
Cancer3DGABRE(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300093   
Orphanet
DisGeNETGABRE
MedgenGABRE
Genetic Testing Registry GABRE
NextProtP78334 [Medical]
TSGene2564
GENETestsGABRE
Target ValidationGABRE
Huge Navigator GABRE [HugePedia]
snp3D : Map Gene to Disease2564
BioCentury BCIQGABRE
ClinGenGABRE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2564
Chemical/Pharm GKB GenePA28499
Clinical trialGABRE
Miscellaneous
canSAR (ICR)GABRE (select the gene name)
DataMed IndexGABRE
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRE
EVEXGABRE
GoPubMedGABRE
iHOPGABRE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:13:38 CET 2019

For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.