Atlas of Genetics and Cytogenetics in Oncology and Haematology


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WBSCR22 (Williams-Beuren syndrome chromosome region 22)

Identity

Alias_namesWilliams Beuren syndrome chromosome region 22
Alias_symbol (synonym)MGC19709
MGC2022
MGC5140
PP3381
WBMT
MERM1
Other aliasHASJ4442
HUSSY-3
HGNC (Hugo) WBSCR22
LocusID (NCBI) 114049
Atlas_Id 55327
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73097898 and ends at 73112551 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCR6 (6q27) / WBSCR22 (7q11.23)LINC00461 (5q14.3) / WBSCR22 (7q11.23)NDRG3 (20q11.23) / WBSCR22 (7q11.23)
PBX1 (1q23.3) / WBSCR22 (7q11.23)SDF4 (1p36.33) / WBSCR22 (7q11.23)WBSCR22 (7q11.23) / SEMA3A (7q21.11)
WBSCR22 (7q11.23) / WBSCR22 (7q11.23)WBSCR22 (7q11.23) / ZYX (7q34)ZYX (7q34) / WBSCR22 (7q11.23)

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)WBSCR22   16405
Cards
Entrez_Gene (NCBI)WBSCR22  114049  Williams-Beuren syndrome chromosome region 22
AliasesHASJ4442; HUSSY-3; MERM1; PP3381; 
WBMT
GeneCards (Weizmann)WBSCR22
Ensembl hg19 (Hinxton)ENSG00000071462 [Gene_View]  chr7:73097898-73112551 [Contig_View]  WBSCR22 [Vega]
Ensembl hg38 (Hinxton)ENSG00000071462 [Gene_View]  chr7:73097898-73112551 [Contig_View]  WBSCR22 [Vega]
ICGC DataPortalENSG00000071462
TCGA cBioPortalWBSCR22
AceView (NCBI)WBSCR22
Genatlas (Paris)WBSCR22
WikiGenes114049
SOURCE (Princeton)WBSCR22
Genetics Home Reference (NIH)WBSCR22
Genomic and cartography
GoldenPath hg19 (UCSC)WBSCR22  -     chr7:73097898-73112551 +  7q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WBSCR22  -     7q11.23   [Description]    (hg38-Dec_2013)
EnsemblWBSCR22 - 7q11.23 [CytoView hg19]  WBSCR22 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIWBSCR22 [Mapview hg19]  WBSCR22 [Mapview hg38]
OMIM615733   
Gene and transcription
Genbank (Entrez)AA099700 AA508840 AF218007 AF412034 AF420248
RefSeq transcript (Entrez)NM_001202560 NM_017528
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)WBSCR22
Cluster EST : UnigeneHs.647063 [ NCBI ]
CGAP (NCI)Hs.647063
Alternative Splicing GalleryENSG00000071462
Gene ExpressionWBSCR22 [ NCBI-GEO ]   WBSCR22 [ EBI - ARRAY_EXPRESS ]   WBSCR22 [ SEEK ]   WBSCR22 [ MEM ]
Gene Expression Viewer (FireBrowse)WBSCR22 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114049
GTEX Portal (Tissue expression)WBSCR22
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43709   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43709  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43709
Splice isoforms : SwissVarO43709
Catalytic activity : Enzyme2.1.1.- [ Enzyme-Expasy ]   2.1.1.-2.1.1.- [ IntEnz-EBI ]   2.1.1.- [ BRENDA ]   2.1.1.- [ KEGG ]   
PhosPhoSitePlusO43709
Domains : Interpro (EBI)Methyltransf_11    SAM-dependent_MTases    Unchr_MeTrfase_Williams-Beuren   
Domain families : Pfam (Sanger)Methyltransf_11 (PF08241)    WBS_methylT (PF12589)   
Domain families : Pfam (NCBI)pfam08241    pfam12589   
Conserved Domain (NCBI)WBSCR22
DMDM Disease mutations114049
Blocks (Seattle)WBSCR22
SuperfamilyO43709
Human Protein AtlasENSG00000071462
Peptide AtlasO43709
HPRD15659
IPIIPI00013810   IPI00456055   IPI00902993   IPI00910635   IPI00927642   IPI00925119   IPI00924769   IPI00926136   IPI00925314   IPI00927183   
Protein Interaction databases
DIP (DOE-UCLA)O43709
IntAct (EBI)O43709
FunCoupENSG00000071462
BioGRIDWBSCR22
STRING (EMBL)WBSCR22
ZODIACWBSCR22
Ontologies - Pathways
QuickGOO43709
Ontology : AmiGOcellular_component  nucleoplasm  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  biological_process  methyltransferase activity  chromatin modification  rRNA methylation  poly(A) RNA binding  
Ontology : EGO-EBIcellular_component  nucleoplasm  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  biological_process  methyltransferase activity  chromatin modification  rRNA methylation  poly(A) RNA binding  
Pathways : KEGGHistidine metabolism    Tyrosine metabolism   
NDEx NetworkWBSCR22
Atlas of Cancer Signalling NetworkWBSCR22
Wikipedia pathwaysWBSCR22
Orthology - Evolution
OrthoDB114049
GeneTree (enSembl)ENSG00000071462
Phylogenetic Trees/Animal Genes : TreeFamWBSCR22
HOVERGENO43709
HOGENOMO43709
Homologs : HomoloGeneWBSCR22
Homology/Alignments : Family Browser (UCSC)WBSCR22
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWBSCR22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WBSCR22
dbVarWBSCR22
ClinVarWBSCR22
1000_GenomesWBSCR22 
Exome Variant ServerWBSCR22
ExAC (Exome Aggregation Consortium)WBSCR22 (select the gene name)
Genetic variants : HAPMAP114049
Genomic Variants (DGV)WBSCR22 [DGVbeta]
DECIPHER (Syndromes)7:73097898-73112551  ENSG00000071462
CONAN: Copy Number AnalysisWBSCR22 
Mutations
ICGC Data PortalWBSCR22 
TCGA Data PortalWBSCR22 
Broad Tumor PortalWBSCR22
OASIS PortalWBSCR22 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWBSCR22  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWBSCR22
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 WBSCR22
DgiDB (Drug Gene Interaction Database)WBSCR22
DoCM (Curated mutations)WBSCR22 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WBSCR22 (select a term)
intoGenWBSCR22
Cancer3DWBSCR22(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615733   
Orphanet
MedgenWBSCR22
Genetic Testing Registry WBSCR22
NextProtO43709 [Medical]
TSGene114049
GENETestsWBSCR22
Huge Navigator WBSCR22 [HugePedia]
snp3D : Map Gene to Disease114049
BioCentury BCIQWBSCR22
ClinGenWBSCR22
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114049
Chemical/Pharm GKB GenePA38133
Clinical trialWBSCR22
Miscellaneous
canSAR (ICR)WBSCR22 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWBSCR22
EVEXWBSCR22
GoPubMedWBSCR22
iHOPWBSCR22
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 13:34:05 CET 2017

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