Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DSG1 (desmoglein 1)

Identity

Other namesCDHF4
DG1
DSG
EPKHE
EPKHIA
PPKS1
SPPK1
HGNC (Hugo) DSG1
LocusID (NCBI) 1828
Atlas_Id 40366
Location 18q12.1
Location_base_pair Starts at 28898052 and ends at 28939209 bp from pter ( according to hg19-Feb_2009)

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)DSG1   3048
Cards
Entrez_Gene (NCBI)DSG1  1828  desmoglein 1
GeneCards (Weizmann)DSG1
Ensembl hg19 (Hinxton) [Gene_View]  chr18:28898052-28939209 [Contig_View]  DSG1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr18:28898052-28939209 [Contig_View]  DSG1 [Vega]
TCGA cBioPortalDSG1
AceView (NCBI)DSG1
Genatlas (Paris)DSG1
WikiGenes1828
SOURCE (Princeton)DSG1
Genomic and cartography
GoldenPath hg19 (UCSC)DSG1  -     chr18:28898052-28939209 +  18q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSG1  -     18q12.1   [Description]    (hg38-Dec_2013)
EnsemblDSG1 - 18q12.1 [CytoView hg19]  DSG1 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSG1 [Mapview hg19]  DSG1 [Mapview hg38]
OMIM125670   148700   615508   
Gene and transcription
Genbank (Entrez)AF088042 AF097935 AK302888 BC148374 BC153001
RefSeq transcript (Entrez)NM_001942
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_011803 NT_010966 NW_004929410
Consensus coding sequences : CCDS (NCBI)DSG1
Cluster EST : UnigeneHs.2633 [ NCBI ]
CGAP (NCI)Hs.2633
Alternative Splicing : Fast-db (Paris)GSHG0013976
Gene ExpressionDSG1 [ NCBI-GEO ]     DSG1 [ SEEK ]   DSG1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02413 (Uniprot)
NextProtQ02413  [Medical]  [Publications]
With graphics : InterProQ02413
Splice isoforms : SwissVarQ02413 (Swissvar)
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Catenin_binding_dom    Desmoglein    Desmosomal_cadherin   
Related proteins : CluSTrQ02413
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)   
Domain families : Pfam (NCBI)pfam00028    pfam01049   
Domain families : Smart (EMBL)CA (SM00112)  
DMDM Disease mutations1828
Blocks (Seattle)Q02413
Peptide AtlasQ02413
HPRD00515
IPIIPI00025753   IPI00974353   
Protein Interaction databases
DIP (DOE-UCLA)Q02413
IntAct (EBI)Q02413
BioGRIDDSG1
IntegromeDBDSG1
STRING (EMBL)DSG1
Ontologies - Pathways
QuickGOQ02413
Ontology : AmiGOcalcium ion binding  cytosol  plasma membrane  cell-cell junction  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cell-cell junction assembly  homophilic cell adhesion via plasma membrane adhesion molecules  cytoplasmic side of plasma membrane  programmed cell death  toxic substance binding  integral component of membrane  apical plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  desmosome  response to progesterone  gamma-catenin binding  protein stabilization  maternal process involved in female pregnancy  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  cytosol  plasma membrane  cell-cell junction  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cell-cell junction assembly  homophilic cell adhesion via plasma membrane adhesion molecules  cytoplasmic side of plasma membrane  programmed cell death  toxic substance binding  integral component of membrane  apical plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  desmosome  response to progesterone  gamma-catenin binding  protein stabilization  maternal process involved in female pregnancy  extracellular exosome  
Pathways : KEGGStaphylococcus aureus infection   
Protein Interaction DatabaseDSG1
DoCM (Curated mutations)DSG1
Wikipedia pathwaysDSG1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerDSG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSG1
dbVarDSG1
ClinVarDSG1
1000_GenomesDSG1 
Exome Variant ServerDSG1
SNP (GeneSNP Utah)DSG1
SNP : HGBaseDSG1
Genetic variants : HAPMAPDSG1
Genomic Variants (DGV)DSG1 [DGVbeta]
Mutations
ICGC Data PortalDSG1 
TCGA Data PortalDSG1 
Tumor PortalDSG1
Somatic Mutations in Cancer : COSMICDSG1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)18:28898052-28939209
CONAN: Copy Number AnalysisDSG1 
Mutations and Diseases : HGMDDSG1
OMIM125670    148700    615508   
MedgenDSG1
NextProtQ02413 [Medical]
GENETestsDSG1
Disease Genetic AssociationDSG1
Huge Navigator DSG1 [HugePedia]  DSG1 [HugeCancerGEM]
snp3D : Map Gene to Disease1828
DGIdb (Drug Gene Interaction db)DSG1
BioCentury BCIQDSG1
General knowledge
Homologs : HomoloGeneDSG1
Homology/Alignments : Family Browser (UCSC)DSG1
Phylogenetic Trees/Animal Genes : TreeFamDSG1
Chemical/Protein Interactions : CTD1828
Chemical/Pharm GKB GenePA27501
Clinical trialDSG1
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
CoreMineDSG1
GoPubMedDSG1
iHOPDSG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:29:15 CEST 2015

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