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VWF (von Willebrand factor)

Identity

Alias_namesF8VWF
Other aliasVWD
HGNC (Hugo) VWF
LocusID (NCBI) 7450
Atlas_Id 45529
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 5948874 and ends at 6124675 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERC1 (12p13.33) / VWF (12p13.31)NCAPD2 (12p13.31) / VWF (12p13.31)PDE9A (21q22.3) / VWF (12p13.31)
RBBP6 (16p12.1) / VWF (12p13.31)VWF (12p13.31) / ACTN1 (14q24.1)VWF (12p13.31) / FN1 (2q35)
VWF (12p13.31) / RAD23A (19p13.2)ERC1 12p13.33 / VWF 12p13.31NCAPD2 12p13.31 / VWF 12p13.31

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)VWF   12726
LRG (Locus Reference Genomic)LRG_587
Cards
Entrez_Gene (NCBI)VWF  7450  von Willebrand factor
AliasesF8VWF; VWD
GeneCards (Weizmann)VWF
Ensembl hg19 (Hinxton)ENSG00000110799 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110799 [Gene_View]  chr12:5948874-6124675 [Contig_View]  VWF [Vega]
ICGC DataPortalENSG00000110799
TCGA cBioPortalVWF
AceView (NCBI)VWF
Genatlas (Paris)VWF
WikiGenes7450
SOURCE (Princeton)VWF
Genetics Home Reference (NIH)VWF
Genomic and cartography
GoldenPath hg38 (UCSC)VWF  -     chr12:5948874-6124675 -  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWF  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblVWF - 12p13.31 [CytoView hg19]  VWF - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIVWF [Mapview hg19]  VWF [Mapview hg38]
OMIM193400   277480   613160   613554   
Gene and transcription
Genbank (Entrez)AF086470 AK292122 AK297600 AK298097 AK301216
RefSeq transcript (Entrez)NM_000552
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWF
Cluster EST : UnigeneHs.440848 [ NCBI ]
CGAP (NCI)Hs.440848
Alternative Splicing GalleryENSG00000110799
Gene ExpressionVWF [ NCBI-GEO ]   VWF [ EBI - ARRAY_EXPRESS ]   VWF [ SEEK ]   VWF [ MEM ]
Gene Expression Viewer (FireBrowse)VWF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7450
GTEX Portal (Tissue expression)VWF
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04275   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04275  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04275
Splice isoforms : SwissVarP04275
PhosPhoSitePlusP04275
Domaine pattern : Prosite (Expaxy)CTCK_1 (PS01185)    CTCK_2 (PS01225)    VWFA (PS50234)    VWFC_1 (PS01208)    VWFC_2 (PS50184)    VWFD (PS51233)   
Domains : Interpro (EBI)Cys_knot_C    TIL_dom    Unchr_dom_Cys-rich    VWA_N2    VWF    VWF_A    VWF_dom    VWF_type-D   
Domain families : Pfam (Sanger)C8 (PF08742)    TIL (PF01826)    VWA (PF00092)    VWA_N2 (PF16164)    VWC (PF00093)    VWD (PF00094)   
Domain families : Pfam (NCBI)pfam08742    pfam01826    pfam00092    pfam16164    pfam00093    pfam00094   
Domain families : Smart (EMBL)C8 (SM00832)  CT (SM00041)  VWA (SM00327)  VWC (SM00214)  VWC_out (SM00215)  VWD (SM00216)  
Conserved Domain (NCBI)VWF
DMDM Disease mutations7450
Blocks (Seattle)VWF
PDB (SRS)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
PDB (PDBSum)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
PDB (IMB)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
PDB (RSDB)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
Structural Biology KnowledgeBase1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
SCOP (Structural Classification of Proteins)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
CATH (Classification of proteins structures)1AO3    1ATZ    1AUQ    1FE8    1FNS    1IJB    1IJK    1M10    1OAK    1SQ0    1U0N    1UEX    2ADF    2MHP    2MHQ    3GXB    3HXO    3HXQ    3PPV    3PPW    3PPX    3PPY    3ZQK    4C29    4C2A    4C2B    4DMU    4NT5    5BV8   
SuperfamilyP04275
Human Protein AtlasENSG00000110799
Peptide AtlasP04275
HPRD01906
IPIIPI00023014   IPI00152350   
Protein Interaction databases
DIP (DOE-UCLA)P04275
IntAct (EBI)P04275
FunCoupENSG00000110799
BioGRIDVWF
STRING (EMBL)VWF
ZODIACVWF
Ontologies - Pathways
QuickGOP04275
Ontology : AmiGOglycoprotein binding  protease binding  protease binding  platelet degranulation  integrin binding  protein binding  collagen binding  extracellular region  extracellular region  extracellular region  proteinaceous extracellular matrix  endoplasmic reticulum  cell adhesion  blood coagulation  blood coagulation  blood coagulation, intrinsic pathway  hemostasis  response to wounding  immunoglobulin binding  platelet activation  platelet activation  platelet activation  extracellular matrix organization  extracellular matrix  platelet alpha granule  platelet alpha granule lumen  cell-substrate adhesion  Weibel-Palade body  identical protein binding  protein homodimerization activity  protein N-terminus binding  chaperone binding  protein homooligomerization  extracellular exosome  
Ontology : EGO-EBIglycoprotein binding  protease binding  protease binding  platelet degranulation  integrin binding  protein binding  collagen binding  extracellular region  extracellular region  extracellular region  proteinaceous extracellular matrix  endoplasmic reticulum  cell adhesion  blood coagulation  blood coagulation  blood coagulation, intrinsic pathway  hemostasis  response to wounding  immunoglobulin binding  platelet activation  platelet activation  platelet activation  extracellular matrix organization  extracellular matrix  platelet alpha granule  platelet alpha granule lumen  cell-substrate adhesion  Weibel-Palade body  identical protein binding  protein homodimerization activity  protein N-terminus binding  chaperone binding  protein homooligomerization  extracellular exosome  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Complement and coagulation cascades   
NDEx NetworkVWF
Atlas of Cancer Signalling NetworkVWF
Wikipedia pathwaysVWF
Orthology - Evolution
OrthoDB7450
GeneTree (enSembl)ENSG00000110799
Phylogenetic Trees/Animal Genes : TreeFamVWF
HOVERGENP04275
HOGENOMP04275
Homologs : HomoloGeneVWF
Homology/Alignments : Family Browser (UCSC)VWF
Gene fusions - Rearrangements
Fusion : MitelmanERC1/VWF [12p13.33/12p13.31]  [t(12;12)(p13;p13)]  
Fusion : MitelmanNCAPD2/VWF [12p13.31/12p13.31]  [t(12;12)(p13;p13)]  
Fusion : MitelmanPDE9A/VWF [21q22.3/12p13.31]  [t(12;21)(p13;q22)]  
Fusion: TCGAERC1 12p13.33 VWF 12p13.31 LUAD
Fusion: TCGANCAPD2 12p13.31 VWF 12p13.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWF
dbVarVWF
ClinVarVWF
1000_GenomesVWF 
Exome Variant ServerVWF
ExAC (Exome Aggregation Consortium)VWF (select the gene name)
Genetic variants : HAPMAP7450
Genomic Variants (DGV)VWF [DGVbeta]
DECIPHERVWF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWF 
Mutations
ICGC Data PortalVWF 
TCGA Data PortalVWF 
Broad Tumor PortalVWF
OASIS PortalVWF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWF
LOVD (Leiden Open Variation Database)EAHAD Coagulation Factor Variant Databases
BioMutasearch VWF
DgiDB (Drug Gene Interaction Database)VWF
DoCM (Curated mutations)VWF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWF (select a term)
intoGenVWF
Cancer3DVWF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193400    277480    613160    613554   
Orphanet17611    17613    17615    17614    17616    17617   
MedgenVWF
Genetic Testing Registry VWF
NextProtP04275 [Medical]
TSGene7450
GENETestsVWF
Target ValidationVWF
Huge Navigator VWF [HugePedia]
snp3D : Map Gene to Disease7450
BioCentury BCIQVWF
ClinGenVWF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7450
Chemical/Pharm GKB GenePA37337
Clinical trialVWF
Miscellaneous
canSAR (ICR)VWF (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWF
EVEXVWF
GoPubMedVWF
iHOPVWF
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 : Wed Jun 7 13:02:40 CEST 2017

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