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VWCE (von Willebrand factor C and EGF domains)

Identity

Alias_symbol (synonym)URG11
FLJ32009
VWC1
Other alias
HGNC (Hugo) VWCE
LocusID (NCBI) 220001
Atlas_Id 51615
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61258286 and ends at 61295316 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		TTLL11 (9q33.2) / VWCE (11q12.2)TTLL11 9q33.2 / VWCE 11q12.2

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

Nomenclature
HGNC (Hugo)VWCE   26487
Cards
Entrez_Gene (NCBI)VWCE  220001  von Willebrand factor C and EGF domains
AliasesURG11; VWC1
GeneCards (Weizmann)VWCE
Ensembl hg19 (Hinxton)ENSG00000167992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167992 [Gene_View]  chr11:61258286-61295316 [Contig_View]  VWCE [Vega]
ICGC DataPortalENSG00000167992
TCGA cBioPortalVWCE
AceView (NCBI)VWCE
Genatlas (Paris)VWCE
WikiGenes220001
SOURCE (Princeton)VWCE
Genetics Home Reference (NIH)VWCE
Genomic and cartography
GoldenPath hg38 (UCSC)VWCE  -     chr11:61258286-61295316 -  11q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWCE  -     11q12.2   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)VWCE
Cluster EST : UnigeneHs.60640 [ NCBI ]
CGAP (NCI)Hs.60640
Alternative Splicing GalleryENSG00000167992
Gene ExpressionVWCE [ NCBI-GEO ]   VWCE [ EBI - ARRAY_EXPRESS ]   VWCE [ SEEK ]   VWCE [ MEM ]
Gene Expression Viewer (FireBrowse)VWCE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)220001
GTEX Portal (Tissue expression)VWCE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DN2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DN2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DN2
Splice isoforms : SwissVarQ96DN2
PhosPhoSitePlusQ96DN2
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)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    Vwce    VWF_dom   
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)  VWC_out (SM00215)  
Conserved Domain (NCBI)VWCE
DMDM Disease mutations220001
Blocks (Seattle)VWCE
SuperfamilyQ96DN2
Human Protein AtlasENSG00000167992
Peptide AtlasQ96DN2
HPRD08116
IPIIPI00061007   IPI00884977   IPI01009722   IPI00909185   
Protein Interaction databases
DIP (DOE-UCLA)Q96DN2
IntAct (EBI)Q96DN2
FunCoupENSG00000167992
BioGRIDVWCE
STRING (EMBL)VWCE
ZODIACVWCE
Ontologies - Pathways
QuickGOQ96DN2
Ontology : AmiGOcalcium ion binding  extracellular region  positive regulation of cell proliferation  regulation of signal transduction  
Ontology : EGO-EBIcalcium ion binding  extracellular region  positive regulation of cell proliferation  regulation of signal transduction  
NDEx NetworkVWCE
Atlas of Cancer Signalling NetworkVWCE
Wikipedia pathwaysVWCE
Orthology - Evolution
OrthoDB220001
GeneTree (enSembl)ENSG00000167992
Phylogenetic Trees/Animal Genes : TreeFamVWCE
HOVERGENQ96DN2
HOGENOMQ96DN2
Homologs : HomoloGeneVWCE
Homology/Alignments : Family Browser (UCSC)VWCE
Gene fusions - Rearrangements
Fusion : MitelmanTTLL11/VWCE [9q33.2/11q12.2]  [t(9;11)(q33;q12)]  
Fusion: TCGATTLL11 9q33.2 VWCE 11q12.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWCE
dbVarVWCE
ClinVarVWCE
1000_GenomesVWCE 
Exome Variant ServerVWCE
ExAC (Exome Aggregation Consortium)VWCE (select the gene name)
Genetic variants : HAPMAP220001
Genomic Variants (DGV)VWCE [DGVbeta]
DECIPHERVWCE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWCE 
Mutations
ICGC Data PortalVWCE 
TCGA Data PortalVWCE 
Broad Tumor PortalVWCE
OASIS PortalVWCE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWCE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWCE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch VWCE
DgiDB (Drug Gene Interaction Database)VWCE
DoCM (Curated mutations)VWCE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWCE (select a term)
intoGenVWCE
Cancer3DVWCE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611115   
Orphanet
MedgenVWCE
Genetic Testing Registry VWCE
NextProtQ96DN2 [Medical]
TSGene220001
GENETestsVWCE
Target ValidationVWCE
Huge Navigator VWCE [HugePedia]
snp3D : Map Gene to Disease220001
BioCentury BCIQVWCE
ClinGenVWCE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD220001
Chemical/Pharm GKB GenePA143485669
Clinical trialVWCE
Miscellaneous
canSAR (ICR)VWCE (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWCE
EVEXVWCE
GoPubMedVWCE
iHOPVWCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:02:40 CEST 2017
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