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WBSCR17 (Williams-Beuren syndrome chromosome region 17)

Identity

Alias_symbol (synonym)GALNTL3
GalNAc-T5L
Other aliasGALNACT17
GALNT16
GALNT20
GalNAc-T17
GalNAc-T19
HGNC (Hugo) WBSCR17
LocusID (NCBI) 64409
Atlas_Id 54773
Location 7q11.22  [Link to chromosome band 7q11]
Location_base_pair Starts at 71132537 and ends at 71713601 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALG5 (13q13.3) / WBSCR17 (7q11.22)INPP4B (4q31.21) / WBSCR17 (7q11.22)SLC39A11 (17q24.3) / WBSCR17 (7q11.22)
WBSCR17 (7q11.22) / PPP1R9A (7q21.3)WBSCR17 (7q11.22) / WBSCR17 (7q11.22)ALG5 13q13.3 / WBSCR17 7q11.22
WBSCR17 7q11.22 / PPP1R9A 7q21.3
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)WBSCR17   16347
Cards
Entrez_Gene (NCBI)WBSCR17  64409  Williams-Beuren syndrome chromosome region 17
AliasesGALNACT17; GALNT16; GALNT20; GALNTL3; 
GalNAc-T17; GalNAc-T19; GalNAc-T5L
GeneCards (Weizmann)WBSCR17
Ensembl hg19 (Hinxton)ENSG00000185274 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185274 [Gene_View]  chr7:71132537-71713601 [Contig_View]  WBSCR17 [Vega]
ICGC DataPortalENSG00000185274
TCGA cBioPortalWBSCR17
AceView (NCBI)WBSCR17
Genatlas (Paris)WBSCR17
WikiGenes64409
SOURCE (Princeton)WBSCR17
Genetics Home Reference (NIH)WBSCR17
Genomic and cartography
GoldenPath hg38 (UCSC)WBSCR17  -     chr7:71132537-71713601 +  7q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WBSCR17  -     7q11.22   [Description]    (hg19-Feb_2009)
EnsemblWBSCR17 - 7q11.22 [CytoView hg19]  WBSCR17 - 7q11.22 [CytoView hg38]
Mapping of homologs : NCBIWBSCR17 [Mapview hg19]  WBSCR17 [Mapview hg38]
OMIM615137   
Gene and transcription
Genbank (Entrez)AB078148 AF410457 AJ626726 AK022143 AK091379
RefSeq transcript (Entrez)NM_022479
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WBSCR17
Cluster EST : UnigeneHs.488591 [ NCBI ]
CGAP (NCI)Hs.488591
Alternative Splicing GalleryENSG00000185274
Gene ExpressionWBSCR17 [ NCBI-GEO ]   WBSCR17 [ EBI - ARRAY_EXPRESS ]   WBSCR17 [ SEEK ]   WBSCR17 [ MEM ]
Gene Expression Viewer (FireBrowse)WBSCR17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64409
GTEX Portal (Tissue expression)WBSCR17
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6IS24   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6IS24  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6IS24
Splice isoforms : SwissVarQ6IS24
Catalytic activity : Enzyme2.4.1.41 [ Enzyme-Expasy ]   2.4.1.412.4.1.41 [ IntEnz-EBI ]   2.4.1.41 [ BRENDA ]   2.4.1.41 [ KEGG ]   
PhosPhoSitePlusQ6IS24
Domaine pattern : Prosite (Expaxy)RICIN_B_LECTIN (PS50231)   
Domains : Interpro (EBI)Glyco_trans_2-like    Nucleotide-diphossugar_trans    Ricin_B_lectin   
Domain families : Pfam (Sanger)Glycos_transf_2 (PF00535)    Ricin_B_lectin (PF00652)   
Domain families : Pfam (NCBI)pfam00535    pfam00652   
Domain families : Smart (EMBL)RICIN (SM00458)  
Conserved Domain (NCBI)WBSCR17
DMDM Disease mutations64409
Blocks (Seattle)WBSCR17
SuperfamilyQ6IS24
Human Protein AtlasENSG00000185274
Peptide AtlasQ6IS24
HPRD15655
IPIIPI00168921   IPI00925982   
Protein Interaction databases
DIP (DOE-UCLA)Q6IS24
IntAct (EBI)Q6IS24
FunCoupENSG00000185274
BioGRIDWBSCR17
STRING (EMBL)WBSCR17
ZODIACWBSCR17
Ontologies - Pathways
QuickGOQ6IS24
Ontology : AmiGO
Ontology : EGO-EBI
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkWBSCR17
Atlas of Cancer Signalling NetworkWBSCR17
Wikipedia pathwaysWBSCR17
Orthology - Evolution
OrthoDB64409
GeneTree (enSembl)ENSG00000185274
Phylogenetic Trees/Animal Genes : TreeFamWBSCR17
HOVERGENQ6IS24
HOGENOMQ6IS24
Homologs : HomoloGeneWBSCR17
Homology/Alignments : Family Browser (UCSC)WBSCR17
Gene fusions - Rearrangements
Fusion : MitelmanALG5/WBSCR17 [13q13.3/7q11.22]  [t(7;13)(q11;q13)]  
Fusion : MitelmanWBSCR17/PPP1R9A [7q11.22/7q21.3]  [t(7;7)(q11;q21)]  
Fusion: TCGAALG5 13q13.3 WBSCR17 7q11.22 BLCA
Fusion: TCGAWBSCR17 7q11.22 PPP1R9A 7q21.3 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWBSCR17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WBSCR17
dbVarWBSCR17
ClinVarWBSCR17
1000_GenomesWBSCR17 
Exome Variant ServerWBSCR17
ExAC (Exome Aggregation Consortium)WBSCR17 (select the gene name)
Genetic variants : HAPMAP64409
Genomic Variants (DGV)WBSCR17 [DGVbeta]
DECIPHERWBSCR17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWBSCR17 
Mutations
ICGC Data PortalWBSCR17 
TCGA Data PortalWBSCR17 
Broad Tumor PortalWBSCR17
OASIS PortalWBSCR17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWBSCR17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWBSCR17
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 WBSCR17
DgiDB (Drug Gene Interaction Database)WBSCR17
DoCM (Curated mutations)WBSCR17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WBSCR17 (select a term)
intoGenWBSCR17
Cancer3DWBSCR17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615137   
Orphanet
MedgenWBSCR17
Genetic Testing Registry WBSCR17
NextProtQ6IS24 [Medical]
TSGene64409
GENETestsWBSCR17
Huge Navigator WBSCR17 [HugePedia]
snp3D : Map Gene to Disease64409
BioCentury BCIQWBSCR17
ClinGenWBSCR17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64409
Chemical/Pharm GKB GenePA38124
Clinical trialWBSCR17
Miscellaneous
canSAR (ICR)WBSCR17 (select the gene name)
Probes
Litterature
GeneRIFsGene References Into Functions (Entrez)
CoreMineWBSCR17
EVEXWBSCR17
GoPubMedWBSCR17
iHOPWBSCR17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:44:01 CEST 2017

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