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VWA3B (von Willebrand factor A domain containing 3B)

Identity

Alias_symbol (synonym)DKFZp686F2227
MGC26733
Other aliasSCAR22
HGNC (Hugo) VWA3B
LocusID (NCBI) 200403
Atlas_Id 75663
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 98149495 and ends at 98312947 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)
VWA3B (2q11.2) / VWA3B (2q11.2)

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

VWA3B
Nomenclature
HGNC (Hugo)VWA3B   28385
Cards
Entrez_Gene (NCBI)VWA3B  200403  von Willebrand factor A domain containing 3B
AliasesSCAR22
GeneCards (Weizmann)VWA3B
Ensembl hg19 (Hinxton)ENSG00000168658 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168658 [Gene_View]  chr2:98149495-98312947 [Contig_View]  VWA3B [Vega]
ICGC DataPortalENSG00000168658
TCGA cBioPortalVWA3B
AceView (NCBI)VWA3B
Genatlas (Paris)VWA3B
WikiGenes200403
SOURCE (Princeton)VWA3B
Genetics Home Reference (NIH)VWA3B
Genomic and cartography
GoldenPath hg38 (UCSC)VWA3B  -     chr2:98149495-98312947 +  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWA3B  -     2q11.2   [Description]    (hg19-Feb_2009)
EnsemblVWA3B - 2q11.2 [CytoView hg19]  VWA3B - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBIVWA3B [Mapview hg19]  VWA3B [Mapview hg38]
OMIM614884   616948   
Gene and transcription
Genbank (Entrez)AK057248 AK090786 AK093084 AK098841 AK292397
RefSeq transcript (Entrez)NM_001345864 NM_144992
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWA3B
Cluster EST : UnigeneHs.269977 [ NCBI ]
CGAP (NCI)Hs.269977
Alternative Splicing GalleryENSG00000168658
Gene ExpressionVWA3B [ NCBI-GEO ]   VWA3B [ EBI - ARRAY_EXPRESS ]   VWA3B [ SEEK ]   VWA3B [ MEM ]
Gene Expression Viewer (FireBrowse)VWA3B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200403
GTEX Portal (Tissue expression)VWA3B
Human Protein AtlasENSG00000168658-VWA3B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ502W6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ502W6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ502W6
Splice isoforms : SwissVarQ502W6
PhosPhoSitePlusQ502W6
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)DUF4537    VWF_A   
Domain families : Pfam (Sanger)DUF4537 (PF15057)    VWA_3 (PF13768)   
Domain families : Pfam (NCBI)pfam15057    pfam13768   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)VWA3B
DMDM Disease mutations200403
Blocks (Seattle)
SuperfamilyQ502W6
Human Protein Atlas [tissue]ENSG00000168658-VWA3B [tissue]
Peptide AtlasQ502W6
HPRD14510
IPIIPI00183414   IPI00893445   IPI00893245   IPI00334186   IPI00472560   IPI00893532   IPI00894306   IPI00942593   IPI00922221   IPI01012688   IPI00917811   IPI00916880   IPI00974581   IPI00984264   IPI00983437   IPI00984204   
Protein Interaction databases
DIP (DOE-UCLA)Q502W6
IntAct (EBI)Q502W6
FunCoupENSG00000168658
BioGRIDVWA3B
STRING (EMBL)VWA3B
ZODIACVWA3B
Ontologies - Pathways
QuickGOQ502W6
Ontology : AmiGOcytoplasm  
Ontology : EGO-EBIcytoplasm  
NDEx NetworkVWA3B
Atlas of Cancer Signalling NetworkVWA3B
Wikipedia pathwaysVWA3B
Orthology - Evolution
OrthoDB200403
GeneTree (enSembl)ENSG00000168658
Phylogenetic Trees/Animal Genes : TreeFamVWA3B
HOVERGENQ502W6
HOGENOMQ502W6
Homologs : HomoloGeneVWA3B
Homology/Alignments : Family Browser (UCSC)VWA3B
Gene fusions - Rearrangements
Fusion: Tumor Portal VWA3B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA3B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA3B
dbVarVWA3B
ClinVarVWA3B
1000_GenomesVWA3B 
Exome Variant ServerVWA3B
ExAC (Exome Aggregation Consortium)ENSG00000168658
GNOMAD BrowserENSG00000168658
Genetic variants : HAPMAP200403
Genomic Variants (DGV)VWA3B [DGVbeta]
DECIPHERVWA3B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWA3B 
Mutations
ICGC Data PortalVWA3B 
TCGA Data PortalVWA3B 
Broad Tumor PortalVWA3B
OASIS PortalVWA3B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWA3B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWA3B
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 VWA3B
DgiDB (Drug Gene Interaction Database)VWA3B
DoCM (Curated mutations)VWA3B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWA3B (select a term)
intoGenVWA3B
Cancer3DVWA3B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614884    616948   
Orphanet
MedgenVWA3B
Genetic Testing Registry VWA3B
NextProtQ502W6 [Medical]
TSGene200403
GENETestsVWA3B
Target ValidationVWA3B
Huge Navigator VWA3B [HugePedia]
snp3D : Map Gene to Disease200403
BioCentury BCIQVWA3B
ClinGenVWA3B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200403
Chemical/Pharm GKB GenePA162409004
Clinical trialVWA3B
Miscellaneous
canSAR (ICR)VWA3B (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWA3B
EVEXVWA3B
GoPubMedVWA3B
iHOPVWA3B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:35:34 CET 2017

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