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CHSY3 (chondroitin sulfate synthase 3)

Identity

Alias_symbol (synonym)CSS3
CHSY-2
Other aliasCHSY2
HGNC (Hugo) CHSY3
LocusID (NCBI) 337876
Atlas_Id 52358
Location 5q23.3  [Link to chromosome band 5q23]
Location_base_pair Starts at 129240523 and ends at 129522327 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AKAP13 (15q25.3) / CHSY3 (5q23.3)CHSY3 (5q23.3) / NINJ2 (12p13.33)AKAP13 15q25.3 / CHSY3 5q23.3
CHSY3 5q23.3 / NINJ2 12p13.33

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)CHSY3   24293
Cards
Entrez_Gene (NCBI)CHSY3  337876  chondroitin sulfate synthase 3
AliasesCHSY2; CSS3
GeneCards (Weizmann)CHSY3
Ensembl hg19 (Hinxton)ENSG00000198108 [Gene_View]  chr5:129240523-129522327 [Contig_View]  CHSY3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198108 [Gene_View]  chr5:129240523-129522327 [Contig_View]  CHSY3 [Vega]
ICGC DataPortalENSG00000198108
TCGA cBioPortalCHSY3
AceView (NCBI)CHSY3
Genatlas (Paris)CHSY3
WikiGenes337876
SOURCE (Princeton)CHSY3
Genetics Home Reference (NIH)CHSY3
Genomic and cartography
GoldenPath hg19 (UCSC)CHSY3  -     chr5:129240523-129522327 +  5q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHSY3  -     5q23.3   [Description]    (hg38-Dec_2013)
EnsemblCHSY3 - 5q23.3 [CytoView hg19]  CHSY3 - 5q23.3 [CytoView hg38]
Mapping of homologs : NCBICHSY3 [Mapview hg19]  CHSY3 [Mapview hg38]
OMIM609963   
Gene and transcription
Genbank (Entrez)AB086062 AB175496 AJ504664 AJ578034 AJ632296
RefSeq transcript (Entrez)NM_175856
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)CHSY3
Cluster EST : UnigeneHs.213137 [ NCBI ]
CGAP (NCI)Hs.213137
Alternative Splicing GalleryENSG00000198108
Gene ExpressionCHSY3 [ NCBI-GEO ]   CHSY3 [ EBI - ARRAY_EXPRESS ]   CHSY3 [ SEEK ]   CHSY3 [ MEM ]
Gene Expression Viewer (FireBrowse)CHSY3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)337876
GTEX Portal (Tissue expression)CHSY3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ70JA7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ70JA7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ70JA7
Splice isoforms : SwissVarQ70JA7
Catalytic activity : Enzyme2.4.1.175 [ Enzyme-Expasy ]   2.4.1.1752.4.1.175 [ IntEnz-EBI ]   2.4.1.175 [ BRENDA ]   2.4.1.175 [ KEGG ]   
PhosPhoSitePlusQ70JA7
Domains : Interpro (EBI)Chond_GalNAc    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)CHGN (PF05679)   
Domain families : Pfam (NCBI)pfam05679   
Conserved Domain (NCBI)CHSY3
DMDM Disease mutations337876
Blocks (Seattle)CHSY3
SuperfamilyQ70JA7
Human Protein AtlasENSG00000198108
Peptide AtlasQ70JA7
HPRD16766
IPIIPI00418277   IPI00903153   
Protein Interaction databases
DIP (DOE-UCLA)Q70JA7
IntAct (EBI)Q70JA7
FunCoupENSG00000198108
BioGRIDCHSY3
STRING (EMBL)CHSY3
ZODIACCHSY3
Ontologies - Pathways
QuickGOQ70JA7
Ontology : AmiGOGolgi membrane  integral component of membrane  chondroitin sulfate biosynthetic process  Golgi cisterna membrane  metal ion binding  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity  
Ontology : EGO-EBIGolgi membrane  integral component of membrane  chondroitin sulfate biosynthetic process  Golgi cisterna membrane  metal ion binding  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity  
Pathways : KEGGGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   
NDEx NetworkCHSY3
Atlas of Cancer Signalling NetworkCHSY3
Wikipedia pathwaysCHSY3
Orthology - Evolution
OrthoDB337876
GeneTree (enSembl)ENSG00000198108
Phylogenetic Trees/Animal Genes : TreeFamCHSY3
HOVERGENQ70JA7
HOGENOMQ70JA7
Homologs : HomoloGeneCHSY3
Homology/Alignments : Family Browser (UCSC)CHSY3
Gene fusions - Rearrangements
Fusion : MitelmanAKAP13/CHSY3 [15q25.3/5q23.3]  [t(5;15)(q23;q25)]  
Fusion : MitelmanCHSY3/NINJ2 [5q23.3/12p13.33]  [t(5;12)(q23;p13)]  
Fusion: TCGAAKAP13 15q25.3 CHSY3 5q23.3 BRCA
Fusion: TCGACHSY3 5q23.3 NINJ2 12p13.33 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHSY3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHSY3
dbVarCHSY3
ClinVarCHSY3
1000_GenomesCHSY3 
Exome Variant ServerCHSY3
ExAC (Exome Aggregation Consortium)CHSY3 (select the gene name)
Genetic variants : HAPMAP337876
Genomic Variants (DGV)CHSY3 [DGVbeta]
DECIPHER (Syndromes)5:129240523-129522327  ENSG00000198108
CONAN: Copy Number AnalysisCHSY3 
Mutations
ICGC Data PortalCHSY3 
TCGA Data PortalCHSY3 
Broad Tumor PortalCHSY3
OASIS PortalCHSY3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHSY3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHSY3
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 CHSY3
DgiDB (Drug Gene Interaction Database)CHSY3
DoCM (Curated mutations)CHSY3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHSY3 (select a term)
intoGenCHSY3
Cancer3DCHSY3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609963   
Orphanet
MedgenCHSY3
Genetic Testing Registry CHSY3
NextProtQ70JA7 [Medical]
TSGene337876
GENETestsCHSY3
Huge Navigator CHSY3 [HugePedia]
snp3D : Map Gene to Disease337876
BioCentury BCIQCHSY3
ClinGenCHSY3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD337876
Chemical/Pharm GKB GenePA162382259
Clinical trialCHSY3
Miscellaneous
canSAR (ICR)CHSY3 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHSY3
EVEXCHSY3
GoPubMedCHSY3
iHOPCHSY3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:36 CEST 2017

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