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VWCE (von Willebrand factor C and EGF domains)

Identity

Other namesURG11
VWC1
HGNC (Hugo) VWCE
LocusID (NCBI) 220001
Location 11q12.2
Location_base_pair Starts at 61025758 and ends at 61062788 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

External links

Nomenclature
HGNC (Hugo)VWCE   26487
Cards
Entrez_Gene (NCBI)VWCE  220001  von Willebrand factor C and EGF domains
GeneCards (Weizmann)VWCE
Ensembl hg19 (Hinxton)ENSG00000167992 [Gene_View]  chr11:61025758-61062788 [Contig_View]  VWCE [Vega]
Ensembl hg38 (Hinxton)ENSG00000167992 [Gene_View]  chr11:61025758-61062788 [Contig_View]  VWCE [Vega]
ICGC DataPortalENSG00000167992
cBioPortalVWCE
AceView (NCBI)VWCE
Genatlas (Paris)VWCE
WikiGenes220001
SOURCE (Princeton)VWCE
Genomic and cartography
GoldenPath hg19 (UCSC)VWCE  -     chr11:61025758-61062788 -  11q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VWCE  -     11q12.2   [Description]    (hg38-Dec_2013)
EnsemblVWCE - 11q12.2 [CytoView hg19]  VWCE - 11q12.2 [CytoView hg38]
Mapping of homologs : NCBIVWCE [Mapview hg19]  VWCE [Mapview hg38]
OMIM611115   
Gene and transcription
Genbank (Entrez)AA328361 AK056571 AK299583 AK302241 AY205235
RefSeq transcript (Entrez)NM_152718
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NT_167190 NW_001838024 NW_004929380
Consensus coding sequences : CCDS (NCBI)VWCE
Cluster EST : UnigeneHs.60640 [ NCBI ]
CGAP (NCI)Hs.60640
Alternative Splicing : Fast-db (Paris)GSHG0005818
Alternative Splicing GalleryENSG00000167992
Gene ExpressionVWCE [ NCBI-GEO ]     VWCE [ SEEK ]   VWCE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DN2 (Uniprot)
NextProtQ96DN2  [Medical]
With graphics : InterProQ96DN2
Splice isoforms : SwissVarQ96DN2 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    VWFC_1 (PS01208)    VWFC_2 (PS50184)   
Domains : Interpro (EBI)EG-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_N_dom    VWF_C   
Related proteins : CluSTrQ96DN2
Domain families : Pfam (Sanger)EGF_CA (PF07645)    VWC (PF00093)   
Domain families : Pfam (NCBI)pfam07645    pfam00093   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  VWC (SM00214)  
DMDM Disease mutations220001
Blocks (Seattle)Q96DN2
Human Protein AtlasENSG00000167992
Peptide AtlasQ96DN2
HPRD08116
IPIIPI00061007   IPI00884977   IPI01009722   IPI00909185   
Protein Interaction databases
DIP (DOE-UCLA)Q96DN2
IntAct (EBI)Q96DN2
FunCoupENSG00000167992
BioGRIDVWCE
IntegromeDBVWCE
STRING (EMBL)VWCE
Ontologies - Pathways
QuickGOQ96DN2
Ontology : AmiGOcalcium ion binding  extracellular region  
Ontology : EGO-EBIcalcium ion binding  extracellular region  
Protein Interaction DatabaseVWCE
DoCM (Curated mutations)VWCE
Wikipedia pathwaysVWCE
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerVWCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWCE
dbVarVWCE
ClinVarVWCE
1000_GenomesVWCE 
Exome Variant ServerVWCE
SNP (GeneSNP Utah)VWCE
SNP : HGBaseVWCE
Genetic variants : HAPMAPVWCE
Genomic VariantsVWCE  VWCE [DGVbeta]
Mutations
ICGC Data PortalENSG00000167992 
Somatic Mutations in Cancer : COSMICVWCE 
CONAN: Copy Number AnalysisVWCE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:61025758-61062788
Mutations and Diseases : HGMDVWCE
OMIM611115   
MedgenVWCE
NextProtQ96DN2 [Medical]
GENETestsVWCE
Disease Genetic AssociationVWCE
Huge Navigator VWCE [HugePedia]  VWCE [HugeCancerGEM]
snp3D : Map Gene to Disease220001
DGIdb (Drug Gene Interaction db)VWCE
General knowledge
Homologs : HomoloGeneVWCE
Homology/Alignments : Family Browser (UCSC)VWCE
Phylogenetic Trees/Animal Genes : TreeFamVWCE
Chemical/Protein Interactions : CTD220001
Chemical/Pharm GKB GenePA143485669
Clinical trialVWCE
Cancer Resource (Charite)ENSG00000167992
Other databases
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
CoreMineVWCE
GoPubMedVWCE
iHOPVWCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:16:48 CET 2014
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