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WBSCR28 (Williams-Beuren syndrome chromosome region 28)

Identity

Alias_symbol (synonym)MGC26719
Other alias-
HGNC (Hugo) WBSCR28
LocusID (NCBI) 135886
Atlas_Id 75693
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73861159 and ends at 73865893 bp from pter ( according to hg38-Dec_2013)

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)WBSCR28   23018
Cards
Entrez_Gene (NCBI)WBSCR28  135886  Williams-Beuren syndrome chromosome region 28
Aliases
GeneCards (Weizmann)WBSCR28
Ensembl hg19 (Hinxton)ENSG00000175877 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175877 [Gene_View]  chr7:73861159-73865893 [Contig_View]  WBSCR28 [Vega]
ICGC DataPortalENSG00000175877
TCGA cBioPortalWBSCR28
AceView (NCBI)WBSCR28
Genatlas (Paris)WBSCR28
WikiGenes135886
SOURCE (Princeton)WBSCR28
Genetics Home Reference (NIH)WBSCR28
Genomic and cartography
GoldenPath hg38 (UCSC)WBSCR28  -     chr7:73861159-73865893 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WBSCR28  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblWBSCR28 - 7q11.23 [CytoView hg19]  WBSCR28 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIWBSCR28 [Mapview hg19]  WBSCR28 [Mapview hg38]
OMIM612547   
Gene and transcription
Genbank (Entrez)AA426067 AY372053 AY372054 BC030643 GQ129394
RefSeq transcript (Entrez)NM_182504
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WBSCR28
Cluster EST : UnigeneHs.647026 [ NCBI ]
CGAP (NCI)Hs.647026
Alternative Splicing GalleryENSG00000175877
Gene ExpressionWBSCR28 [ NCBI-GEO ]   WBSCR28 [ EBI - ARRAY_EXPRESS ]   WBSCR28 [ SEEK ]   WBSCR28 [ MEM ]
Gene Expression Viewer (FireBrowse)WBSCR28 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)135886
GTEX Portal (Tissue expression)WBSCR28
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UE05   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UE05  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UE05
Splice isoforms : SwissVarQ6UE05
PhosPhoSitePlusQ6UE05
Domains : Interpro (EBI)WBS28   
Domain families : Pfam (Sanger)WBS28 (PF15164)   
Domain families : Pfam (NCBI)pfam15164   
Conserved Domain (NCBI)WBSCR28
DMDM Disease mutations135886
Blocks (Seattle)WBSCR28
SuperfamilyQ6UE05
Human Protein AtlasENSG00000175877
Peptide AtlasQ6UE05
HPRD15662
IPIIPI00169282   IPI00868838   
Protein Interaction databases
DIP (DOE-UCLA)Q6UE05
IntAct (EBI)Q6UE05
FunCoupENSG00000175877
BioGRIDWBSCR28
STRING (EMBL)WBSCR28
ZODIACWBSCR28
Ontologies - Pathways
QuickGOQ6UE05
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkWBSCR28
Atlas of Cancer Signalling NetworkWBSCR28
Wikipedia pathwaysWBSCR28
Orthology - Evolution
OrthoDB135886
GeneTree (enSembl)ENSG00000175877
Phylogenetic Trees/Animal Genes : TreeFamWBSCR28
HOVERGENQ6UE05
HOGENOMQ6UE05
Homologs : HomoloGeneWBSCR28
Homology/Alignments : Family Browser (UCSC)WBSCR28
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWBSCR28 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WBSCR28
dbVarWBSCR28
ClinVarWBSCR28
1000_GenomesWBSCR28 
Exome Variant ServerWBSCR28
ExAC (Exome Aggregation Consortium)WBSCR28 (select the gene name)
Genetic variants : HAPMAP135886
Genomic Variants (DGV)WBSCR28 [DGVbeta]
DECIPHERWBSCR28 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWBSCR28 
Mutations
ICGC Data PortalWBSCR28 
TCGA Data PortalWBSCR28 
Broad Tumor PortalWBSCR28
OASIS PortalWBSCR28 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWBSCR28  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWBSCR28
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 WBSCR28
DgiDB (Drug Gene Interaction Database)WBSCR28
DoCM (Curated mutations)WBSCR28 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WBSCR28 (select a term)
intoGenWBSCR28
Cancer3DWBSCR28(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612547   
Orphanet
MedgenWBSCR28
Genetic Testing Registry WBSCR28
NextProtQ6UE05 [Medical]
TSGene135886
GENETestsWBSCR28
Target ValidationWBSCR28
Huge Navigator WBSCR28 [HugePedia]
snp3D : Map Gene to Disease135886
BioCentury BCIQWBSCR28
ClinGenWBSCR28
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD135886
Chemical/Pharm GKB GenePA145147726
Clinical trialWBSCR28
Miscellaneous
canSAR (ICR)WBSCR28 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWBSCR28
EVEXWBSCR28
GoPubMedWBSCR28
iHOPWBSCR28
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 15:48:53 CEST 2017

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