Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BZRAP1 (benzodiazepine receptor (peripheral) associated protein 1)

Identity

Other aliasPBR-IP
PRAX-1
PRAX1
RIM-BP1
RIMBP1
HGNC (Hugo) BZRAP1
LocusID (NCBI) 9256
Atlas_Id 60845
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 56378588 and ends at 56406152 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LMF1 (16p13.3) / BZRAP1 (17q22)

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)BZRAP1   16831
Cards
Entrez_Gene (NCBI)BZRAP1  9256  benzodiazepine receptor (peripheral) associated protein 1
AliasesPBR-IP; PRAX-1; PRAX1; RIM-BP1; 
RIMBP1
GeneCards (Weizmann)BZRAP1
Ensembl hg19 (Hinxton)ENSG00000005379 [Gene_View]  chr17:56378588-56406152 [Contig_View]  BZRAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000005379 [Gene_View]  chr17:56378588-56406152 [Contig_View]  BZRAP1 [Vega]
ICGC DataPortalENSG00000005379
TCGA cBioPortalBZRAP1
AceView (NCBI)BZRAP1
Genatlas (Paris)BZRAP1
WikiGenes9256
SOURCE (Princeton)BZRAP1
Genetics Home Reference (NIH)BZRAP1
Genomic and cartography
GoldenPath hg19 (UCSC)BZRAP1  -     chr17:56378588-56406152 -  17q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BZRAP1  -     17q22   [Description]    (hg38-Dec_2013)
EnsemblBZRAP1 - 17q22 [CytoView hg19]  BZRAP1 - 17q22 [CytoView hg38]
Mapping of homologs : NCBIBZRAP1 [Mapview hg19]  BZRAP1 [Mapview hg38]
OMIM610764   
Gene and transcription
Genbank (Entrez)AB014512 AF039571 AI811889 BC031401 BC146852
RefSeq transcript (Entrez)NM_001261835 NM_004758 NM_024418
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)BZRAP1
Cluster EST : UnigeneHs.112499 [ NCBI ]
CGAP (NCI)Hs.112499
Alternative Splicing GalleryENSG00000005379
Gene ExpressionBZRAP1 [ NCBI-GEO ]   BZRAP1 [ EBI - ARRAY_EXPRESS ]   BZRAP1 [ SEEK ]   BZRAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BZRAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9256
GTEX Portal (Tissue expression)BZRAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95153   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95153  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95153
Splice isoforms : SwissVarO95153
PhosPhoSitePlusO95153
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    SH3 (PS50002)   
Domains : Interpro (EBI)FN3_dom    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)SH3_2 (PF07653)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam07653    pfam14604   
Domain families : Smart (EMBL)FN3 (SM00060)  SH3 (SM00326)  
Conserved Domain (NCBI)BZRAP1
DMDM Disease mutations9256
Blocks (Seattle)BZRAP1
SuperfamilyO95153
Human Protein AtlasENSG00000005379
Peptide AtlasO95153
HPRD09832
IPIIPI00006254   IPI00397514   IPI00397515   
Protein Interaction databases
DIP (DOE-UCLA)O95153
IntAct (EBI)O95153
FunCoupENSG00000005379
BioGRIDBZRAP1
STRING (EMBL)BZRAP1
ZODIACBZRAP1
Ontologies - Pathways
QuickGOO95153
Ontology : AmiGOprotein binding  cytoplasm  mitochondrion  cytosol  synaptic transmission  neurotransmitter secretion  biological_process  glutamate secretion  benzodiazepine receptor binding  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrion  cytosol  synaptic transmission  neurotransmitter secretion  biological_process  glutamate secretion  benzodiazepine receptor binding  
NDEx NetworkBZRAP1
Atlas of Cancer Signalling NetworkBZRAP1
Wikipedia pathwaysBZRAP1
Orthology - Evolution
OrthoDB9256
GeneTree (enSembl)ENSG00000005379
Phylogenetic Trees/Animal Genes : TreeFamBZRAP1
HOVERGENO95153
HOGENOMO95153
Homologs : HomoloGeneBZRAP1
Homology/Alignments : Family Browser (UCSC)BZRAP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBZRAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BZRAP1
dbVarBZRAP1
ClinVarBZRAP1
1000_GenomesBZRAP1 
Exome Variant ServerBZRAP1
ExAC (Exome Aggregation Consortium)BZRAP1 (select the gene name)
Genetic variants : HAPMAP9256
Genomic Variants (DGV)BZRAP1 [DGVbeta]
DECIPHER (Syndromes)17:56378588-56406152  ENSG00000005379
CONAN: Copy Number AnalysisBZRAP1 
Mutations
ICGC Data PortalBZRAP1 
TCGA Data PortalBZRAP1 
Broad Tumor PortalBZRAP1
OASIS PortalBZRAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBZRAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBZRAP1
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 BZRAP1
DgiDB (Drug Gene Interaction Database)BZRAP1
DoCM (Curated mutations)BZRAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BZRAP1 (select a term)
intoGenBZRAP1
Cancer3DBZRAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610764   
Orphanet
MedgenBZRAP1
Genetic Testing Registry BZRAP1
NextProtO95153 [Medical]
TSGene9256
GENETestsBZRAP1
Huge Navigator BZRAP1 [HugePedia]
snp3D : Map Gene to Disease9256
BioCentury BCIQBZRAP1
ClinGenBZRAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9256
Chemical/Pharm GKB GenePA128394545
Clinical trialBZRAP1
Miscellaneous
canSAR (ICR)BZRAP1 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBZRAP1
EVEXBZRAP1
GoPubMedBZRAP1
iHOPBZRAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:56:10 CET 2017

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