Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DSE (dermatan sulfate epimerase)

Identity

Alias (NCBI)DS-epi1
DSEP
DSEPI
EDSMC2
SART-2
SART2
HGNC (Hugo) DSE
HGNC Alias symbDSEPI
DS-Epi1
HGNC Previous nameSART2
HGNC Previous namesquamous cell carcinoma antigen recognized by T cells 2
LocusID (NCBI) 29940
Atlas_Id 42204
Location 6q22.1  [Link to chromosome band 6q22]
Location_base_pair Starts at 116370947 and ends at 116444861 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)
DSE (6q22.1) / CSNK1E (22q13.1)DSE (6q22.1) / DSE (6q22.1)DSE (6q22.1) / LOC100130987 (11q13.2)
ELOVL7 (5q12.1) / DSE (6q22.1)MYL2 (12q24.11) / DSE (6q22.1)

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)DSE   21144
Cards
Entrez_Gene (NCBI)DSE  29940  dermatan sulfate epimerase
AliasesDS-epi1; DSEP; DSEPI; EDSMC2; 
SART-2; SART2
GeneCards (Weizmann)DSE
Ensembl hg19 (Hinxton)ENSG00000111817 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111817 [Gene_View]  ENSG00000111817 [Sequence]  chr6:116370947-116444861 [Contig_View]  DSE [Vega]
ICGC DataPortalENSG00000111817
TCGA cBioPortalDSE
AceView (NCBI)DSE
Genatlas (Paris)DSE
WikiGenes29940
SOURCE (Princeton)DSE
Genetics Home Reference (NIH)DSE
Genomic and cartography
GoldenPath hg38 (UCSC)DSE  -     chr6:116370947-116444861 +  6q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSE  -     6q22.1   [Description]    (hg19-Feb_2009)
GoldenPathDSE - 6q22.1 [CytoView hg19]  DSE - 6q22.1 [CytoView hg38]
ImmunoBaseENSG00000111817
genome Data Viewer NCBIDSE [Mapview hg19]  
OMIM605942   615539   
Gene and transcription
Genbank (Entrez)AF098066 AK093256 AK095123 AK128607 AK293872
RefSeq transcript (Entrez)NM_001080976 NM_001322937 NM_001322938 NM_001322939 NM_001322940 NM_001322941 NM_001322943 NM_001322944 NM_001374520 NM_001374521 NM_001374522 NM_013352
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSE
Alternative Splicing GalleryENSG00000111817
Gene ExpressionDSE [ NCBI-GEO ]   DSE [ EBI - ARRAY_EXPRESS ]   DSE [ SEEK ]   DSE [ MEM ]
Gene Expression Viewer (FireBrowse)DSE [ Firebrowse - Broad ]
GenevisibleExpression of DSE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29940
GTEX Portal (Tissue expression)DSE
Human Protein AtlasENSG00000111817-DSE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UL01   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UL01  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UL01
Splice isoforms : SwissVarQ9UL01
Catalytic activity : Enzyme5.1.3.19 [ Enzyme-Expasy ]   5.1.3.195.1.3.19 [ IntEnz-EBI ]   5.1.3.19 [ BRENDA ]   5.1.3.19 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9UL01
Domains : Interpro (EBI)Chondroitin_lyas    HepII_N   
Domain families : Pfam (Sanger)DUF4962 (PF16332)   
Domain families : Pfam (NCBI)pfam16332   
Conserved Domain (NCBI)DSE
DMDM Disease mutations29940
Blocks (Seattle)DSE
PDB (RSDB)6HZN   
PDB Europe6HZN   
PDB (PDBSum)6HZN   
PDB (IMB)6HZN   
Structural Biology KnowledgeBase6HZN   
SCOP (Structural Classification of Proteins)6HZN   
CATH (Classification of proteins structures)6HZN   
SuperfamilyQ9UL01
Human Protein Atlas [tissue]ENSG00000111817-DSE [tissue]
Peptide AtlasQ9UL01
HPRD05807
IPIIPI01013307   IPI00922260   IPI00002526   IPI00640268   
Protein Interaction databases
DIP (DOE-UCLA)Q9UL01
IntAct (EBI)Q9UL01
FunCoupENSG00000111817
BioGRIDDSE
STRING (EMBL)DSE
ZODIACDSE
Ontologies - Pathways
QuickGOQ9UL01
Ontology : AmiGOGolgi membrane  nucleoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  chondroitin sulfate metabolic process  dermatan sulfate metabolic process  chondroitin sulfate biosynthetic process  dermatan sulfate biosynthetic process  dermatan sulfate biosynthetic process  chondroitin-glucuronate 5-epimerase activity  chondroitin-glucuronate 5-epimerase activity  
Ontology : EGO-EBIGolgi membrane  nucleoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  chondroitin sulfate metabolic process  dermatan sulfate metabolic process  chondroitin sulfate biosynthetic process  dermatan sulfate biosynthetic process  dermatan sulfate biosynthetic process  chondroitin-glucuronate 5-epimerase activity  chondroitin-glucuronate 5-epimerase activity  
Pathways : KEGGGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   
NDEx NetworkDSE
Atlas of Cancer Signalling NetworkDSE
Wikipedia pathwaysDSE
Orthology - Evolution
OrthoDB29940
GeneTree (enSembl)ENSG00000111817
Phylogenetic Trees/Animal Genes : TreeFamDSE
HOGENOMQ9UL01
Homologs : HomoloGeneDSE
Homology/Alignments : Family Browser (UCSC)DSE
Gene fusions - Rearrangements
Fusion : QuiverDSE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSE
dbVarDSE
ClinVarDSE
MonarchDSE
1000_GenomesDSE 
Exome Variant ServerDSE
GNOMAD BrowserENSG00000111817
Varsome BrowserDSE
Genetic variants : HAPMAP29940
Genomic Variants (DGV)DSE [DGVbeta]
DECIPHERDSE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSE 
Mutations
ICGC Data PortalDSE 
TCGA Data PortalDSE 
Broad Tumor PortalDSE
OASIS PortalDSE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDSE
Mutations and Diseases : HGMDDSE
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
LOVD (Leiden Open Variation Database)Ehlers Danlos Syndrome Variant Database
BioMutasearch DSE
DgiDB (Drug Gene Interaction Database)DSE
DoCM (Curated mutations)DSE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSE (select a term)
intoGenDSE
Cancer3DDSE(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605942    615539   
Orphanet3480   
DisGeNETDSE
MedgenDSE
Genetic Testing Registry DSE
NextProtQ9UL01 [Medical]
TSGene29940
GENETestsDSE
Target ValidationDSE
Huge Navigator DSE [HugePedia]
snp3D : Map Gene to Disease29940
BioCentury BCIQDSE
ClinGenDSE
Clinical trials, drugs, therapy
Protein Interactions : CTD29940
Pharm GKB GenePA162384080
Clinical trialDSE
Miscellaneous
canSAR (ICR)DSE (select the gene name)
HarmonizomeDSE
DataMed IndexDSE
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSE
EVEXDSE
GoPubMedDSE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:09:22 CEST 2020
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