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VWA5A (von Willebrand factor A domain containing 5A)

Identity

Alias_namesLOH11CR2A
loss of heterozygosity
Alias_symbol (synonym)BCSC-1
Other aliasBCSC1
HGNC (Hugo) VWA5A
LocusID (NCBI) 4013
Atlas_Id 41188
Location 11q24.2  [Link to chromosome band 11q24]
Location_base_pair Starts at 124115404 and ends at 124146911 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CBL (11q23.3) / VWA5A (11q24.2)RNF121 (11q13.4) / VWA5A (11q24.2)VWA5A (11q24.2) / EEF1A1 (6q13)
VWA5A (11q24.2) / GAPDH (12p13.31)CBL 11q23.3 / VWA5A 11q24.2RNF121 11q13.4 / VWA5A 11q24.2

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)VWA5A   6658
Cards
Entrez_Gene (NCBI)VWA5A  4013  von Willebrand factor A domain containing 5A
AliasesBCSC-1; BCSC1; LOH11CR2A
GeneCards (Weizmann)VWA5A
Ensembl hg19 (Hinxton)ENSG00000110002 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110002 [Gene_View]  chr11:124115404-124146911 [Contig_View]  VWA5A [Vega]
ICGC DataPortalENSG00000110002
TCGA cBioPortalVWA5A
AceView (NCBI)VWA5A
Genatlas (Paris)VWA5A
WikiGenes4013
SOURCE (Princeton)VWA5A
Genetics Home Reference (NIH)VWA5A
Genomic and cartography
GoldenPath hg38 (UCSC)VWA5A  -     chr11:124115404-124146911 +  11q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWA5A  -     11q24.2   [Description]    (hg19-Feb_2009)
EnsemblVWA5A - 11q24.2 [CytoView hg19]  VWA5A - 11q24.2 [CytoView hg38]
Mapping of homologs : NCBIVWA5A [Mapview hg19]  VWA5A [Mapview hg38]
OMIM602929   
Gene and transcription
Genbank (Entrez)AF002672 AK291698 AK295247 AK314934 AY366503
RefSeq transcript (Entrez)NM_001130142 NM_014622 NM_198315
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWA5A
Cluster EST : UnigeneHs.152944 [ NCBI ]
CGAP (NCI)Hs.152944
Alternative Splicing GalleryENSG00000110002
Gene ExpressionVWA5A [ NCBI-GEO ]   VWA5A [ EBI - ARRAY_EXPRESS ]   VWA5A [ SEEK ]   VWA5A [ MEM ]
Gene Expression Viewer (FireBrowse)VWA5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4013
GTEX Portal (Tissue expression)VWA5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00534
Splice isoforms : SwissVarO00534
PhosPhoSitePlusO00534
Domaine pattern : Prosite (Expaxy)VIT (PS51468)    VWFA (PS50234)   
Domains : Interpro (EBI)VIT    VWF_A   
Domain families : Pfam (Sanger)VIT (PF08487)    VWA_3 (PF13768)   
Domain families : Pfam (NCBI)pfam08487    pfam13768   
Domain families : Smart (EMBL)VIT (SM00609)  VWA (SM00327)  
Conserved Domain (NCBI)VWA5A
DMDM Disease mutations4013
Blocks (Seattle)VWA5A
SuperfamilyO00534
Human Protein AtlasENSG00000110002
Peptide AtlasO00534
HPRD04238
IPIIPI00005609   IPI00555895   IPI00012703   IPI00555652   IPI00953155   
Protein Interaction databases
DIP (DOE-UCLA)O00534
IntAct (EBI)O00534
FunCoupENSG00000110002
BioGRIDVWA5A
STRING (EMBL)VWA5A
ZODIACVWA5A
Ontologies - Pathways
QuickGOO00534
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkVWA5A
Atlas of Cancer Signalling NetworkVWA5A
Wikipedia pathwaysVWA5A
Orthology - Evolution
OrthoDB4013
GeneTree (enSembl)ENSG00000110002
Phylogenetic Trees/Animal Genes : TreeFamVWA5A
HOVERGENO00534
HOGENOMO00534
Homologs : HomoloGeneVWA5A
Homology/Alignments : Family Browser (UCSC)VWA5A
Gene fusions - Rearrangements
Fusion : MitelmanCBL/VWA5A [11q23.3/11q24.2]  [t(11;11)(q23;q24)]  
Fusion : MitelmanRNF121/VWA5A [11q13.4/11q24.2]  [t(11;11)(q13;q24)]  
Fusion: TCGACBL 11q23.3 VWA5A 11q24.2 LUAD
Fusion: TCGARNF121 11q13.4 VWA5A 11q24.2 LUAD
Fusion Cancer (Beijing)VWA5A [11q24.2]  -  EEF1A1 [6q13]  [FUSC001398]
Fusion Cancer (Beijing)VWA5A [11q24.2]  -  GAPDH [12p13.31]  [FUSC001399]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA5A
dbVarVWA5A
ClinVarVWA5A
1000_GenomesVWA5A 
Exome Variant ServerVWA5A
ExAC (Exome Aggregation Consortium)VWA5A (select the gene name)
Genetic variants : HAPMAP4013
Genomic Variants (DGV)VWA5A [DGVbeta]
DECIPHERVWA5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWA5A 
Mutations
ICGC Data PortalVWA5A 
TCGA Data PortalVWA5A 
Broad Tumor PortalVWA5A
OASIS PortalVWA5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWA5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWA5A
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 VWA5A
DgiDB (Drug Gene Interaction Database)VWA5A
DoCM (Curated mutations)VWA5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWA5A (select a term)
intoGenVWA5A
Cancer3DVWA5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602929   
Orphanet
MedgenVWA5A
Genetic Testing Registry VWA5A
NextProtO00534 [Medical]
TSGene4013
GENETestsVWA5A
Target ValidationVWA5A
Huge Navigator VWA5A [HugePedia]
snp3D : Map Gene to Disease4013
BioCentury BCIQVWA5A
ClinGenVWA5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4013
Chemical/Pharm GKB GenePA162409005
Clinical trialVWA5A
Miscellaneous
canSAR (ICR)VWA5A (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWA5A
EVEXVWA5A
GoPubMedVWA5A
iHOPVWA5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:02:40 CEST 2017

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