Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GALNS (galactosamine (N-acetyl)-6-sulfatase)

Identity

Alias (NCBI)GALNAC6S
GAS
GalN6S
MPS4A
HGNC (Hugo) GALNS
HGNC Alias symbGAS
GALNAC6S
HGNC Alias nameMorquio syndrome
 mucopolysaccharidosis type IVA
HGNC Previous namegalactosamine (N-acetyl)-6-sulfate sulfatase
LocusID (NCBI) 2588
Atlas_Id 63681
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 88813734 and ends at 88856970 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)
CBFA2T3 (16q24.3) / GALNS (16q24.3)GALNS (16q24.3) / CCNG2 (4q21.1)PIEZO1 (16q24.3) / GALNS (16q24.3)

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

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  PIEZO1/GALNS (16q24)

External links

Nomenclature
HGNC (Hugo)GALNS   4122
Cards
Entrez_Gene (NCBI)GALNS    galactosamine (N-acetyl)-6-sulfatase
AliasesGALNAC6S; GAS; GalN6S; MPS4A
GeneCards (Weizmann)GALNS
Ensembl hg19 (Hinxton)ENSG00000141012 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141012 [Gene_View]  ENSG00000141012 [Sequence]  chr16:88813734-88856970 [Contig_View]  GALNS [Vega]
ICGC DataPortalENSG00000141012
TCGA cBioPortalGALNS
AceView (NCBI)GALNS
Genatlas (Paris)GALNS
SOURCE (Princeton)GALNS
Genetics Home Reference (NIH)GALNS
Genomic and cartography
GoldenPath hg38 (UCSC)GALNS  -     chr16:88813734-88856970 -  16q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALNS  -     16q24.3   [Description]    (hg19-Feb_2009)
GoldenPathGALNS - 16q24.3 [CytoView hg19]  GALNS - 16q24.3 [CytoView hg38]
ImmunoBaseENSG00000141012
genome Data Viewer NCBIGALNS [Mapview hg19]  
OMIM253000   612222   
Gene and transcription
Genbank (Entrez)AA436724 AK021488 AK124834 AK131096 AK294390
RefSeq transcript (Entrez)NM_000512 NM_001323543 NM_001323544
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GALNS
Alternative Splicing GalleryENSG00000141012
Gene ExpressionGALNS [ NCBI-GEO ]   GALNS [ EBI - ARRAY_EXPRESS ]   GALNS [ SEEK ]   GALNS [ MEM ]
Gene Expression Viewer (FireBrowse)GALNS [ Firebrowse - Broad ]
GenevisibleExpression of GALNS in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2588
GTEX Portal (Tissue expression)GALNS
Human Protein AtlasENSG00000141012-GALNS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP34059   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP34059  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP34059
Splice isoforms : SwissVarP34059
Catalytic activity : Enzyme3.1.6.4 [ Enzyme-Expasy ]   3.1.6.43.1.6.4 [ IntEnz-EBI ]   3.1.6.4 [ BRENDA ]   3.1.6.4 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP34059
Domaine pattern : Prosite (Expaxy)SULFATASE_1 (PS00523)    SULFATASE_2 (PS00149)   
Domains : Interpro (EBI)Alkaline_phosphatase_core_sf    GALNS    Sulfatase_CS    Sulfatase_N   
Domain families : Pfam (Sanger)Sulfatase (PF00884)   
Domain families : Pfam (NCBI)pfam00884   
Conserved Domain (NCBI)GALNS
Blocks (Seattle)GALNS
PDB (RSDB)4FDI    4FDJ   
PDB Europe4FDI    4FDJ   
PDB (PDBSum)4FDI    4FDJ   
PDB (IMB)4FDI    4FDJ   
Structural Biology KnowledgeBase4FDI    4FDJ   
SCOP (Structural Classification of Proteins)4FDI    4FDJ   
CATH (Classification of proteins structures)4FDI    4FDJ   
SuperfamilyP34059
Human Protein Atlas [tissue]ENSG00000141012-GALNS [tissue]
Peptide AtlasP34059
HPRD08357
IPIIPI00029605   IPI00978346   IPI00646669   IPI00921590   IPI00884165   
Protein Interaction databases
DIP (DOE-UCLA)P34059
IntAct (EBI)P34059
BioGRIDGALNS
STRING (EMBL)GALNS
ZODIACGALNS
Ontologies - Pathways
QuickGOP34059
Ontology : AmiGON-acetylgalactosamine-4-sulfatase activity  arylsulfatase activity  extracellular region  sulfuric ester hydrolase activity  azurophil granule lumen  keratan sulfate catabolic process  lysosomal lumen  neutrophil degranulation  N-acetylgalactosamine-6-sulfatase activity  metal ion binding  extracellular exosome  
Ontology : EGO-EBIN-acetylgalactosamine-4-sulfatase activity  arylsulfatase activity  extracellular region  sulfuric ester hydrolase activity  azurophil granule lumen  keratan sulfate catabolic process  lysosomal lumen  neutrophil degranulation  N-acetylgalactosamine-6-sulfatase activity  metal ion binding  extracellular exosome  
Pathways : KEGGGlycan structures - degradation    Glycosaminoglycan degradation   
NDEx NetworkGALNS
Atlas of Cancer Signalling NetworkGALNS
Wikipedia pathwaysGALNS
Orthology - Evolution
OrthoDB2588
GeneTree (enSembl)ENSG00000141012
Phylogenetic Trees/Animal Genes : TreeFamGALNS
HOGENOMP34059
Homologs : HomoloGeneGALNS
Homology/Alignments : Family Browser (UCSC)GALNS
Gene fusions - Rearrangements
Fusion : QuiverGALNS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALNS [hg38]
dbVarGALNS
ClinVarGALNS
MonarchGALNS
1000_GenomesGALNS 
Exome Variant ServerGALNS
GNOMAD BrowserENSG00000141012
Varsome BrowserGALNS
Genomic Variants (DGV)GALNS [DGVbeta]
DECIPHERGALNS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALNS 
Mutations
ICGC Data PortalGALNS 
TCGA Data PortalGALNS 
Broad Tumor PortalGALNS
OASIS PortalGALNS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALNS  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGALNS
Mutations and Diseases : HGMDGALNS
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 GALNS
DgiDB (Drug Gene Interaction Database)GALNS
DoCM (Curated mutations)GALNS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALNS (select a term)
intoGenGALNS
Cancer3DGALNS(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM253000    612222   
Orphanet21369   
DisGeNETGALNS
MedgenGALNS
Genetic Testing Registry GALNS
NextProtP34059 [Medical]
GENETestsGALNS
Target ValidationGALNS
Huge Navigator GALNS [HugePedia]
ClinGenGALNS
Clinical trials, drugs, therapy
MyCancerGenomeGALNS
Protein Interactions : CTD
Pharm GKB GenePA28535
Clinical trialGALNS
Miscellaneous
canSAR (ICR)GALNS (select the gene name)
HarmonizomeGALNS
DataMed IndexGALNS
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALNS
EVEXGALNS
GoPubMedGALNS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:55:16 CET 2020
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