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VWA8 (von Willebrand factor A domain containing 8)

Identity

Alias_namesKIAA0564
KIAA0564
Other alias
HGNC (Hugo) VWA8
LocusID (NCBI) 23078
Atlas_Id 75667
Location 13q14.11  [Link to chromosome band 13q14]
Location_base_pair Starts at 41719337 and ends at 41961085 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DNAJC3 (13q32.1) / VWA8 (13q14.11)NUDCD1 (8q23.1) / VWA8 (13q14.11)SCAF8 (6q25.2) / VWA8 (13q14.11)
VWA8 (13q14.11) / LHFP (13q13.3)VWA8 (13q14.11) / PTPRG (3p14.2)VWA8 (13q14.11) / RB1 (13q14.2)
ZMYM2 (13q12.11) / VWA8 (13q14.11)

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)VWA8   29071
Cards
Entrez_Gene (NCBI)VWA8  23078  von Willebrand factor A domain containing 8
AliasesKIAA0564
GeneCards (Weizmann)VWA8
Ensembl hg19 (Hinxton)ENSG00000102763 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102763 [Gene_View]  chr13:41719337-41961085 [Contig_View]  VWA8 [Vega]
ICGC DataPortalENSG00000102763
TCGA cBioPortalVWA8
AceView (NCBI)VWA8
Genatlas (Paris)VWA8
WikiGenes23078
SOURCE (Princeton)VWA8
Genetics Home Reference (NIH)VWA8
Genomic and cartography
GoldenPath hg38 (UCSC)VWA8  -     chr13:41719337-41961085 -  13q14.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWA8  -     13q14.11   [Description]    (hg19-Feb_2009)
EnsemblVWA8 - 13q14.11 [CytoView hg19]  VWA8 - 13q14.11 [CytoView hg38]
Mapping of homologs : NCBIVWA8 [Mapview hg19]  VWA8 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA648780 AB011136 AK025432 AK095155 AK308568
RefSeq transcript (Entrez)NM_001009814 NM_015058
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWA8
Cluster EST : UnigeneHs.368282 [ NCBI ]
CGAP (NCI)Hs.368282
Alternative Splicing GalleryENSG00000102763
Gene ExpressionVWA8 [ NCBI-GEO ]   VWA8 [ EBI - ARRAY_EXPRESS ]   VWA8 [ SEEK ]   VWA8 [ MEM ]
Gene Expression Viewer (FireBrowse)VWA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23078
GTEX Portal (Tissue expression)VWA8
Protein : pattern, domain, 3D structure
UniProt/SwissProtA3KMH1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA3KMH1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA3KMH1
Splice isoforms : SwissVarA3KMH1
PhosPhoSitePlusA3KMH1
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_dyneun-rel_AAA    P-loop_NTPase    VWF_A   
Domain families : Pfam (Sanger)AAA_5 (PF07728)   
Domain families : Pfam (NCBI)pfam07728   
Domain families : Smart (EMBL)AAA (SM00382)  VWA (SM00327)  
Conserved Domain (NCBI)VWA8
DMDM Disease mutations23078
Blocks (Seattle)VWA8
SuperfamilyA3KMH1
Human Protein AtlasENSG00000102763
Peptide AtlasA3KMH1
HPRD17194
IPIIPI00900366   IPI00376322   IPI00646740   IPI00158296   IPI00946751   
Protein Interaction databases
DIP (DOE-UCLA)A3KMH1
IntAct (EBI)A3KMH1
FunCoupENSG00000102763
BioGRIDVWA8
STRING (EMBL)VWA8
ZODIACVWA8
Ontologies - Pathways
QuickGOA3KMH1
Ontology : AmiGOATP binding  extracellular region  mitochondrion  ATPase activity  
Ontology : EGO-EBIATP binding  extracellular region  mitochondrion  ATPase activity  
NDEx NetworkVWA8
Atlas of Cancer Signalling NetworkVWA8
Wikipedia pathwaysVWA8
Orthology - Evolution
OrthoDB23078
GeneTree (enSembl)ENSG00000102763
Phylogenetic Trees/Animal Genes : TreeFamVWA8
HOVERGENA3KMH1
HOGENOMA3KMH1
Homologs : HomoloGeneVWA8
Homology/Alignments : Family Browser (UCSC)VWA8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA8
dbVarVWA8
ClinVarVWA8
1000_GenomesVWA8 
Exome Variant ServerVWA8
ExAC (Exome Aggregation Consortium)VWA8 (select the gene name)
Genetic variants : HAPMAP23078
Genomic Variants (DGV)VWA8 [DGVbeta]
DECIPHERVWA8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWA8 
Mutations
ICGC Data PortalVWA8 
TCGA Data PortalVWA8 
Broad Tumor PortalVWA8
OASIS PortalVWA8 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDVWA8
BioMutasearch VWA8
DgiDB (Drug Gene Interaction Database)VWA8
DoCM (Curated mutations)VWA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWA8 (select a term)
intoGenVWA8
Cancer3DVWA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenVWA8
Genetic Testing Registry VWA8
NextProtA3KMH1 [Medical]
TSGene23078
GENETestsVWA8
Target ValidationVWA8
Huge Navigator VWA8 [HugePedia]
snp3D : Map Gene to Disease23078
BioCentury BCIQVWA8
ClinGenVWA8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23078
Chemical/Pharm GKB GenePA162392941
Clinical trialVWA8
Miscellaneous
canSAR (ICR)VWA8 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWA8
EVEXVWA8
GoPubMedVWA8
iHOPVWA8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:48:46 CEST 2017

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