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VWA5B1 (von Willebrand factor A domain containing 5B1)

Identity

Alias_symbol (synonym)FLJ32784
Other alias-
HGNC (Hugo) VWA5B1
LocusID (NCBI) 127731
Atlas_Id 75664
Location 1p36.12  [Link to chromosome band 1p36]
Location_base_pair Starts at 20617412 and ends at 20681387 bp from pter ( according to hg19-Feb_2009)

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)VWA5B1   26538
Cards
Entrez_Gene (NCBI)VWA5B1  127731  von Willebrand factor A domain containing 5B1
Aliases
GeneCards (Weizmann)VWA5B1
Ensembl hg19 (Hinxton)ENSG00000158816 [Gene_View]  chr1:20617412-20681387 [Contig_View]  VWA5B1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158816 [Gene_View]  chr1:20617412-20681387 [Contig_View]  VWA5B1 [Vega]
ICGC DataPortalENSG00000158816
TCGA cBioPortalVWA5B1
AceView (NCBI)VWA5B1
Genatlas (Paris)VWA5B1
WikiGenes127731
SOURCE (Princeton)VWA5B1
Genetics Home Reference (NIH)VWA5B1
Genomic and cartography
GoldenPath hg19 (UCSC)VWA5B1  -     chr1:20617412-20681387 +  1p36.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VWA5B1  -     1p36.12   [Description]    (hg38-Dec_2013)
EnsemblVWA5B1 - 1p36.12 [CytoView hg19]  VWA5B1 - 1p36.12 [CytoView hg38]
Mapping of homologs : NCBIVWA5B1 [Mapview hg19]  VWA5B1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057346 AK125833 AK295797 BC101378 BC101379
RefSeq transcript (Entrez)NM_001039500 NM_144623
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)VWA5B1
Cluster EST : UnigeneHs.205178 [ NCBI ]
CGAP (NCI)Hs.205178
Alternative Splicing GalleryENSG00000158816
Gene ExpressionVWA5B1 [ NCBI-GEO ]   VWA5B1 [ EBI - ARRAY_EXPRESS ]   VWA5B1 [ SEEK ]   VWA5B1 [ MEM ]
Gene Expression Viewer (FireBrowse)VWA5B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)127731
GTEX Portal (Tissue expression)VWA5B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TIE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TIE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TIE3
Splice isoforms : SwissVarQ5TIE3
PhosPhoSitePlusQ5TIE3
Domaine pattern : Prosite (Expaxy)VIT (PS51468)    VWFA (PS50234)   
Domains : Interpro (EBI)VIT    VWF_A   
Domain families : Pfam (Sanger)VIT_2 (PF13757)   
Domain families : Pfam (NCBI)pfam13757   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)VWA5B1
DMDM Disease mutations127731
Blocks (Seattle)VWA5B1
SuperfamilyQ5TIE3
Human Protein AtlasENSG00000158816
Peptide AtlasQ5TIE3
HPRD08732
IPIIPI00070070   IPI00942848   IPI00872402   IPI00657873   IPI00651682   IPI00981923   IPI00980531   IPI00978651   
Protein Interaction databases
DIP (DOE-UCLA)Q5TIE3
IntAct (EBI)Q5TIE3
FunCoupENSG00000158816
BioGRIDVWA5B1
STRING (EMBL)VWA5B1
ZODIACVWA5B1
Ontologies - Pathways
QuickGOQ5TIE3
Ontology : AmiGOextracellular region  
Ontology : EGO-EBIextracellular region  
NDEx NetworkVWA5B1
Atlas of Cancer Signalling NetworkVWA5B1
Wikipedia pathwaysVWA5B1
Orthology - Evolution
OrthoDB127731
GeneTree (enSembl)ENSG00000158816
Phylogenetic Trees/Animal Genes : TreeFamVWA5B1
HOVERGENQ5TIE3
HOGENOMQ5TIE3
Homologs : HomoloGeneVWA5B1
Homology/Alignments : Family Browser (UCSC)VWA5B1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA5B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA5B1
dbVarVWA5B1
ClinVarVWA5B1
1000_GenomesVWA5B1 
Exome Variant ServerVWA5B1
ExAC (Exome Aggregation Consortium)VWA5B1 (select the gene name)
Genetic variants : HAPMAP127731
Genomic Variants (DGV)VWA5B1 [DGVbeta]
DECIPHER (Syndromes)1:20617412-20681387  ENSG00000158816
CONAN: Copy Number AnalysisVWA5B1 
Mutations
ICGC Data PortalVWA5B1 
TCGA Data PortalVWA5B1 
Broad Tumor PortalVWA5B1
OASIS PortalVWA5B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWA5B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWA5B1
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 VWA5B1
DgiDB (Drug Gene Interaction Database)VWA5B1
DoCM (Curated mutations)VWA5B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWA5B1 (select a term)
intoGenVWA5B1
Cancer3DVWA5B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenVWA5B1
Genetic Testing Registry VWA5B1
NextProtQ5TIE3 [Medical]
TSGene127731
GENETestsVWA5B1
Huge Navigator VWA5B1 [HugePedia]
snp3D : Map Gene to Disease127731
BioCentury BCIQVWA5B1
ClinGenVWA5B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD127731
Chemical/Pharm GKB GenePA162409030
Clinical trialVWA5B1
Miscellaneous
canSAR (ICR)VWA5B1 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWA5B1
EVEXVWA5B1
GoPubMedVWA5B1
iHOPVWA5B1
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 12:51:25 CET 2017

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