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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    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
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
Consensus coding sequences : CCDS (NCBI)DSE
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
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
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
AlphaFold pdb e-kbQ9UL01   
Human Protein Atlas [tissue]ENSG00000111817-DSE [tissue]
HPRD05807
Protein Interaction databases
DIP (DOE-UCLA)Q9UL01
IntAct (EBI)Q9UL01
BioGRIDDSE
STRING (EMBL)DSE
ZODIACDSE
Ontologies - Pathways
QuickGOQ9UL01
Ontology : AmiGOGolgi membrane  endoplasmic reticulum  Golgi apparatus  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  endoplasmic reticulum  Golgi apparatus  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
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
ACMGDSE variants
VarityQ9UL01
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)[gene] [transcripts] [variants]
BioMutaDSE
DgiDB (Drug Gene Interaction Database)DSE
DoCM (Curated mutations)DSE
CIViC (Clinical Interpretations of Variants in Cancer)DSE
Cancer3DDSE
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605942    615539   
Orphanet3480   
DisGeNETDSE
MedgenDSE
Genetic Testing Registry DSE
NextProtQ9UL01 [Medical]
GENETestsDSE
Target ValidationDSE
Huge Navigator DSE [HugePedia]
ClinGenDSE
Clinical trials, drugs, therapy
MyCancerGenomeDSE
Protein Interactions : CTDDSE
Pharm GKB GenePA162384080
PharosQ9UL01
Clinical trialDSE
Miscellaneous
canSAR (ICR)DSE
HarmonizomeDSE
DataMed IndexDSE
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDSE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:07:21 CEST 2021
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