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BCAP31 (B-cell receptor-associated protein 31)

Identity

Alias_symbol (synonym)DXS1357E
BAP31
6C6-Ag
CDM
Other alias6C6-AG
DDCH
HGNC (Hugo) BCAP31
LocusID (NCBI) 10134
Atlas_Id 50285
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153700492 and ends at 153724127 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCAP31 (Xq28) / BCAP31 (Xq28)BCAP31 (Xq28) / PDZD4 (Xq28)BCAP31 (Xq28) / PRPF6 (20q13.33)
BCAP31 (Xq28) / SMAD2 (18q21.1)BCAP31 (Xq28) / TEX28 (Xq28)LOXL2 (8p21.3) / BCAP31 (Xq28)
BCAP31 Xq28 / PDZD4 Xq28

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)BCAP31   16695
Cards
Entrez_Gene (NCBI)BCAP31  10134  B-cell receptor-associated protein 31
Aliases6C6-AG; BAP31; CDM; DDCH; 
DXS1357E
GeneCards (Weizmann)BCAP31
Ensembl hg19 (Hinxton)ENSG00000185825 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185825 [Gene_View]  chrX:153700492-153724127 [Contig_View]  BCAP31 [Vega]
ICGC DataPortalENSG00000185825
TCGA cBioPortalBCAP31
AceView (NCBI)BCAP31
Genatlas (Paris)BCAP31
WikiGenes10134
SOURCE (Princeton)BCAP31
Genetics Home Reference (NIH)BCAP31
Genomic and cartography
GoldenPath hg38 (UCSC)BCAP31  -     chrX:153700492-153724127 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCAP31  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblBCAP31 - Xq28 [CytoView hg19]  BCAP31 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIBCAP31 [Mapview hg19]  BCAP31 [Mapview hg38]
OMIM300398   300475   
Gene and transcription
Genbank (Entrez)AI123868 AK057613 AK125631 AK222494 AK223059
RefSeq transcript (Entrez)NM_001139441 NM_001139457 NM_001256447 NM_005745
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCAP31
Cluster EST : UnigeneHs.522817 [ NCBI ]
CGAP (NCI)Hs.522817
Alternative Splicing GalleryENSG00000185825
Gene ExpressionBCAP31 [ NCBI-GEO ]   BCAP31 [ EBI - ARRAY_EXPRESS ]   BCAP31 [ SEEK ]   BCAP31 [ MEM ]
Gene Expression Viewer (FireBrowse)BCAP31 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10134
GTEX Portal (Tissue expression)BCAP31
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51572   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51572  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51572
Splice isoforms : SwissVarP51572
PhosPhoSitePlusP51572
Domains : Interpro (EBI)BAP29/BAP31   
Domain families : Pfam (Sanger)Bap31 (PF05529)   
Domain families : Pfam (NCBI)pfam05529   
Conserved Domain (NCBI)BCAP31
DMDM Disease mutations10134
Blocks (Seattle)BCAP31
PDB (SRS)4JZL    4JZP   
PDB (PDBSum)4JZL    4JZP   
PDB (IMB)4JZL    4JZP   
PDB (RSDB)4JZL    4JZP   
Structural Biology KnowledgeBase4JZL    4JZP   
SCOP (Structural Classification of Proteins)4JZL    4JZP   
CATH (Classification of proteins structures)4JZL    4JZP   
SuperfamilyP51572
Human Protein AtlasENSG00000185825
Peptide AtlasP51572
HPRD02319
IPIIPI00218200   IPI01009955   IPI00639976   IPI00641554   IPI00642984   IPI00640444   IPI00646739   
Protein Interaction databases
DIP (DOE-UCLA)P51572
IntAct (EBI)P51572
FunCoupENSG00000185825
BioGRIDBCAP31
STRING (EMBL)BCAP31
ZODIACBCAP31
Ontologies - Pathways
QuickGOP51572
Ontology : AmiGOantigen processing and presentation of peptide antigen via MHC class I  protein binding  mitochondrion  endoplasmic reticulum  Sec61 translocon complex  endoplasmic reticulum membrane  lipid particle  cytosol  integral component of plasma membrane  intracellular protein transport  ER to Golgi vesicle-mediated transport  positive regulation of cytosolic calcium ion concentration  spermatogenesis  membrane  clathrin-coated vesicle  protein complex binding  negative regulation of endoplasmic reticulum calcium ion concentration  Golgi cisterna membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  calcium-mediated signaling using intracellular calcium source  MHC class I protein binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of mitochondrial calcium ion concentration  protein localization to endoplasmic reticulum exit site  integral component of lumenal side of endoplasmic reticulum membrane  perinuclear endoplasmic reticulum  execution phase of apoptosis  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  positive regulation of retrograde protein transport, ER to cytosol  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIantigen processing and presentation of peptide antigen via MHC class I  protein binding  mitochondrion  endoplasmic reticulum  Sec61 translocon complex  endoplasmic reticulum membrane  lipid particle  cytosol  integral component of plasma membrane  intracellular protein transport  ER to Golgi vesicle-mediated transport  positive regulation of cytosolic calcium ion concentration  spermatogenesis  membrane  clathrin-coated vesicle  protein complex binding  negative regulation of endoplasmic reticulum calcium ion concentration  Golgi cisterna membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  calcium-mediated signaling using intracellular calcium source  MHC class I protein binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of mitochondrial calcium ion concentration  protein localization to endoplasmic reticulum exit site  integral component of lumenal side of endoplasmic reticulum membrane  perinuclear endoplasmic reticulum  execution phase of apoptosis  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  positive regulation of retrograde protein transport, ER to cytosol  positive regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkBCAP31
Atlas of Cancer Signalling NetworkBCAP31
Wikipedia pathwaysBCAP31
Orthology - Evolution
OrthoDB10134
GeneTree (enSembl)ENSG00000185825
Phylogenetic Trees/Animal Genes : TreeFamBCAP31
HOVERGENP51572
HOGENOMP51572
Homologs : HomoloGeneBCAP31
Homology/Alignments : Family Browser (UCSC)BCAP31
Gene fusions - Rearrangements
Fusion: TCGABCAP31 Xq28 PDZD4 Xq28 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCAP31 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCAP31
dbVarBCAP31
ClinVarBCAP31
1000_GenomesBCAP31 
Exome Variant ServerBCAP31
ExAC (Exome Aggregation Consortium)BCAP31 (select the gene name)
Genetic variants : HAPMAP10134
Genomic Variants (DGV)BCAP31 [DGVbeta]
DECIPHERBCAP31 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCAP31 
Mutations
ICGC Data PortalBCAP31 
TCGA Data PortalBCAP31 
Broad Tumor PortalBCAP31
OASIS PortalBCAP31 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCAP31  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCAP31
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BCAP31
DgiDB (Drug Gene Interaction Database)BCAP31
DoCM (Curated mutations)BCAP31 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCAP31 (select a term)
intoGenBCAP31
Cancer3DBCAP31(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300398    300475   
Orphanet22451    22450   
MedgenBCAP31
Genetic Testing Registry BCAP31
NextProtP51572 [Medical]
TSGene10134
GENETestsBCAP31
Huge Navigator BCAP31 [HugePedia]
snp3D : Map Gene to Disease10134
BioCentury BCIQBCAP31
ClinGenBCAP31
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10134
Chemical/Pharm GKB GenePA128394569
Clinical trialBCAP31
Miscellaneous
canSAR (ICR)BCAP31 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCAP31
EVEXBCAP31
GoPubMedBCAP31
iHOPBCAP31
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:07:33 CEST 2017

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