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GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17)

Identity

Alias_namesWBSCR17
Williams-Beuren syndrome chromosome region 17
Alias_symbol (synonym)GALNTL3
GalNAc-T5L
GalNAc-T19
GalNAc-T17
ppGalNAc-T17
Other aliasGALNACT17
GALNT16
GALNT20
HGNC (Hugo) GALNT17
LocusID (NCBI) 64409
Atlas_Id 80111
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)GALNT17   16347
Cards
Entrez_Gene (NCBI)GALNT17  64409  polypeptide N-acetylgalactosaminyltransferase 17
AliasesGALNACT17; GALNT16; GALNT20; GALNTL3; 
GalNAc-T17; GalNAc-T19; GalNAc-T5L; WBSCR17
GeneCards (Weizmann)GALNT17
Ensembl hg19 (Hinxton)ENSG00000185274 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185274 [Gene_View]  chr7:71132537-71713601 [Contig_View]  GALNT17 [Vega]
ICGC DataPortalENSG00000185274
TCGA cBioPortalGALNT17
AceView (NCBI)GALNT17
Genatlas (Paris)GALNT17
WikiGenes64409
SOURCE (Princeton)GALNT17
Genetics Home Reference (NIH)GALNT17
Genomic and cartography
GoldenPath hg38 (UCSC)GALNT17  -     chr7:71132537-71713601 +  7q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALNT17  -     7q11.22   [Description]    (hg19-Feb_2009)
EnsemblGALNT17 - 7q11.22 [CytoView hg19]  GALNT17 - 7q11.22 [CytoView hg38]
Mapping of homologs : NCBIGALNT17 [Mapview hg19]  GALNT17 [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)GALNT17
Cluster EST : UnigeneHs.488591 [ NCBI ]
CGAP (NCI)Hs.488591
Alternative Splicing GalleryENSG00000185274
Gene ExpressionGALNT17 [ NCBI-GEO ]   GALNT17 [ EBI - ARRAY_EXPRESS ]   GALNT17 [ SEEK ]   GALNT17 [ MEM ]
Gene Expression Viewer (FireBrowse)GALNT17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64409
GTEX Portal (Tissue expression)GALNT17
Human Protein AtlasENSG00000185274-GALNT17 [pathology]   [cell]   [tissue]
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)GALNT17
DMDM Disease mutations64409
Blocks (Seattle)GALNT17
SuperfamilyQ6IS24
Human Protein Atlas [tissue]ENSG00000185274-GALNT17 [tissue]
Peptide AtlasQ6IS24
IPIIPI00168921   IPI00925982   
Protein Interaction databases
DIP (DOE-UCLA)Q6IS24
IntAct (EBI)Q6IS24
FunCoupENSG00000185274
BioGRIDGALNT17
STRING (EMBL)GALNT17
ZODIACGALNT17
Ontologies - Pathways
QuickGOQ6IS24
Ontology : AmiGOGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  protein glycosylation  integral component of membrane  carbohydrate binding  metal ion binding  
Ontology : EGO-EBIGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  protein glycosylation  integral component of membrane  carbohydrate binding  metal ion binding  
NDEx NetworkGALNT17
Atlas of Cancer Signalling NetworkGALNT17
Wikipedia pathwaysGALNT17
Orthology - Evolution
OrthoDB64409
GeneTree (enSembl)ENSG00000185274
Phylogenetic Trees/Animal Genes : TreeFamGALNT17
HOVERGENQ6IS24
HOGENOMQ6IS24
Homologs : HomoloGeneGALNT17
Homology/Alignments : Family Browser (UCSC)GALNT17
Gene fusions - Rearrangements
Fusion : QuiverGALNT17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALNT17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALNT17
dbVarGALNT17
ClinVarGALNT17
1000_GenomesGALNT17 
Exome Variant ServerGALNT17
ExAC (Exome Aggregation Consortium)ENSG00000185274
GNOMAD BrowserENSG00000185274
Genetic variants : HAPMAP64409
Genomic Variants (DGV)GALNT17 [DGVbeta]
DECIPHERGALNT17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALNT17 
Mutations
ICGC Data PortalGALNT17 
TCGA Data PortalGALNT17 
Broad Tumor PortalGALNT17
OASIS PortalGALNT17 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGALNT17
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 GALNT17
DgiDB (Drug Gene Interaction Database)GALNT17
DoCM (Curated mutations)GALNT17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALNT17 (select a term)
intoGenGALNT17
Cancer3DGALNT17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615137   
Orphanet
DisGeNETGALNT17
MedgenGALNT17
Genetic Testing Registry GALNT17
NextProtQ6IS24 [Medical]
TSGene64409
GENETestsGALNT17
Target ValidationGALNT17
Huge Navigator GALNT17 [HugePedia]
snp3D : Map Gene to Disease64409
BioCentury BCIQGALNT17
ClinGenGALNT17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64409
Chemical/Pharm GKB GenePA38124
Clinical trialGALNT17
Miscellaneous
canSAR (ICR)GALNT17 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALNT17
EVEXGALNT17
GoPubMedGALNT17
iHOPGALNT17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:19:46 CET 2018

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