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WBSCR27 (Williams Beuren syndrome chromosome region 27)

Identity

Other alias-
HGNC (Hugo) WBSCR27
LocusID (NCBI) 155368
Atlas_Id 75692
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73248921 and ends at 73256855 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)WBSCR27   19068
Cards
Entrez_Gene (NCBI)WBSCR27  155368  Williams Beuren syndrome chromosome region 27
Aliases
GeneCards (Weizmann)WBSCR27
Ensembl hg19 (Hinxton)ENSG00000165171 [Gene_View]  chr7:73248921-73256855 [Contig_View]  WBSCR27 [Vega]
Ensembl hg38 (Hinxton)ENSG00000165171 [Gene_View]  chr7:73248921-73256855 [Contig_View]  WBSCR27 [Vega]
ICGC DataPortalENSG00000165171
TCGA cBioPortalWBSCR27
AceView (NCBI)WBSCR27
Genatlas (Paris)WBSCR27
WikiGenes155368
SOURCE (Princeton)WBSCR27
Genetics Home Reference (NIH)WBSCR27
Genomic and cartography
GoldenPath hg19 (UCSC)WBSCR27  -     chr7:73248921-73256855 -  7q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WBSCR27  -     7q11.23   [Description]    (hg38-Dec_2013)
EnsemblWBSCR27 - 7q11.23 [CytoView hg19]  WBSCR27 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIWBSCR27 [Mapview hg19]  WBSCR27 [Mapview hg38]
OMIM612546   
Gene and transcription
Genbank (Entrez)AF534110 AK301597 AY354928 BC030295 DQ894655
RefSeq transcript (Entrez)NM_152559
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_023289 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)WBSCR27
Cluster EST : UnigeneHs.647042 [ NCBI ]
CGAP (NCI)Hs.647042
Alternative Splicing GalleryENSG00000165171
Gene ExpressionWBSCR27 [ NCBI-GEO ]   WBSCR27 [ EBI - ARRAY_EXPRESS ]   WBSCR27 [ SEEK ]   WBSCR27 [ MEM ]
Gene Expression Viewer (FireBrowse)WBSCR27 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)155368
GTEX Portal (Tissue expression)WBSCR27
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N6F8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N6F8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N6F8
Splice isoforms : SwissVarQ8N6F8
PhosPhoSitePlusQ8N6F8
Domains : Interpro (EBI)SAM-dependent_MTases   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)WBSCR27
DMDM Disease mutations155368
Blocks (Seattle)WBSCR27
SuperfamilyQ8N6F8
Human Protein AtlasENSG00000165171
Peptide AtlasQ8N6F8
HPRD15661
IPIIPI00167004   IPI00910294   
Protein Interaction databases
DIP (DOE-UCLA)Q8N6F8
IntAct (EBI)Q8N6F8
FunCoupENSG00000165171
BioGRIDWBSCR27
STRING (EMBL)WBSCR27
ZODIACWBSCR27
Ontologies - Pathways
QuickGOQ8N6F8
Ontology : AmiGOprotein binding  S-adenosylmethionine-dependent methyltransferase activity  methylation  
Ontology : EGO-EBIprotein binding  S-adenosylmethionine-dependent methyltransferase activity  methylation  
NDEx NetworkWBSCR27
Atlas of Cancer Signalling NetworkWBSCR27
Wikipedia pathwaysWBSCR27
Orthology - Evolution
OrthoDB155368
GeneTree (enSembl)ENSG00000165171
Phylogenetic Trees/Animal Genes : TreeFamWBSCR27
HOVERGENQ8N6F8
HOGENOMQ8N6F8
Homologs : HomoloGeneWBSCR27
Homology/Alignments : Family Browser (UCSC)WBSCR27
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWBSCR27 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WBSCR27
dbVarWBSCR27
ClinVarWBSCR27
1000_GenomesWBSCR27 
Exome Variant ServerWBSCR27
ExAC (Exome Aggregation Consortium)WBSCR27 (select the gene name)
Genetic variants : HAPMAP155368
Genomic Variants (DGV)WBSCR27 [DGVbeta]
DECIPHER (Syndromes)7:73248921-73256855  ENSG00000165171
CONAN: Copy Number AnalysisWBSCR27 
Mutations
ICGC Data PortalWBSCR27 
TCGA Data PortalWBSCR27 
Broad Tumor PortalWBSCR27
OASIS PortalWBSCR27 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWBSCR27  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWBSCR27
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 WBSCR27
DgiDB (Drug Gene Interaction Database)WBSCR27
DoCM (Curated mutations)WBSCR27 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WBSCR27 (select a term)
intoGenWBSCR27
Cancer3DWBSCR27(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612546   
Orphanet
MedgenWBSCR27
Genetic Testing Registry WBSCR27
NextProtQ8N6F8 [Medical]
TSGene155368
GENETestsWBSCR27
Huge Navigator WBSCR27 [HugePedia]
snp3D : Map Gene to Disease155368
BioCentury BCIQWBSCR27
ClinGenWBSCR27
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD155368
Chemical/Pharm GKB GenePA134905115
Clinical trialWBSCR27
Miscellaneous
canSAR (ICR)WBSCR27 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWBSCR27
EVEXWBSCR27
GoPubMedWBSCR27
iHOPWBSCR27
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 12:51:32 CET 2017

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