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DSC1 (desmocollin 1)

Identity

Alias_symbol (synonym)CDHF1
Other aliasDG2/DG3
HGNC (Hugo) DSC1
LocusID (NCBI) 1823
Atlas_Id 46406
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 31129251 and ends at 31162856 bp from pter ( according to hg38-Dec_2013)

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)DSC1   3035
Cards
Entrez_Gene (NCBI)DSC1  1823  desmocollin 1
AliasesCDHF1; DG2/DG3
GeneCards (Weizmann)DSC1
Ensembl hg19 (Hinxton)ENSG00000134765 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134765 [Gene_View]  chr18:31129251-31162856 [Contig_View]  DSC1 [Vega]
ICGC DataPortalENSG00000134765
TCGA cBioPortalDSC1
AceView (NCBI)DSC1
Genatlas (Paris)DSC1
WikiGenes1823
SOURCE (Princeton)DSC1
Genetics Home Reference (NIH)DSC1
Genomic and cartography
GoldenPath hg38 (UCSC)DSC1  -     chr18:31129251-31162856 -  18q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSC1  -     18q12.1   [Description]    (hg19-Feb_2009)
EnsemblDSC1 - 18q12.1 [CytoView hg19]  DSC1 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSC1 [Mapview hg19]  DSC1 [Mapview hg38]
OMIM125643   
Gene and transcription
Genbank (Entrez)BC148349 CU444724 CU447407 X72925 X72925
RefSeq transcript (Entrez)NM_004948 NM_024421
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSC1
Cluster EST : UnigeneHs.567260 [ NCBI ]
CGAP (NCI)Hs.567260
Alternative Splicing GalleryENSG00000134765
Gene ExpressionDSC1 [ NCBI-GEO ]   DSC1 [ EBI - ARRAY_EXPRESS ]   DSC1 [ SEEK ]   DSC1 [ MEM ]
Gene Expression Viewer (FireBrowse)DSC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1823
GTEX Portal (Tissue expression)DSC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08554   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08554  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08554
Splice isoforms : SwissVarQ08554
PhosPhoSitePlusQ08554
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro_dom    Catenin_binding_dom    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam (NCBI)pfam00028    pfam01049    pfam08758   
Domain families : Smart (EMBL)CA (SM00112)  Cadherin_pro (SM01055)  
Conserved Domain (NCBI)DSC1
DMDM Disease mutations1823
Blocks (Seattle)DSC1
PDB (SRS)5IRY   
PDB (PDBSum)5IRY   
PDB (IMB)5IRY   
PDB (RSDB)5IRY   
Structural Biology KnowledgeBase5IRY   
SCOP (Structural Classification of Proteins)5IRY   
CATH (Classification of proteins structures)5IRY   
SuperfamilyQ08554
Human Protein AtlasENSG00000134765
Peptide AtlasQ08554
HPRD00511
IPIIPI00216099   IPI00386975   
Protein Interaction databases
DIP (DOE-UCLA)Q08554
IntAct (EBI)Q08554
FunCoupENSG00000134765
BioGRIDDSC1
STRING (EMBL)DSC1
ZODIACDSC1
Ontologies - Pathways
QuickGOQ08554
Ontology : AmiGOcornified envelope  calcium ion binding  plasma membrane  gap junction  homophilic cell adhesion via plasma membrane adhesion molecules  membrane  integral component of membrane  desmosome  keratinization  neutrophil degranulation  extracellular exosome  cornification  ficolin-1-rich granule membrane  
Ontology : EGO-EBIcornified envelope  calcium ion binding  plasma membrane  gap junction  homophilic cell adhesion via plasma membrane adhesion molecules  membrane  integral component of membrane  desmosome  keratinization  neutrophil degranulation  extracellular exosome  cornification  ficolin-1-rich granule membrane  
NDEx NetworkDSC1
Atlas of Cancer Signalling NetworkDSC1
Wikipedia pathwaysDSC1
Orthology - Evolution
OrthoDB1823
GeneTree (enSembl)ENSG00000134765
Phylogenetic Trees/Animal Genes : TreeFamDSC1
HOVERGENQ08554
HOGENOMQ08554
Homologs : HomoloGeneDSC1
Homology/Alignments : Family Browser (UCSC)DSC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSC1
dbVarDSC1
ClinVarDSC1
1000_GenomesDSC1 
Exome Variant ServerDSC1
ExAC (Exome Aggregation Consortium)DSC1 (select the gene name)
Genetic variants : HAPMAP1823
Genomic Variants (DGV)DSC1 [DGVbeta]
DECIPHERDSC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSC1 
Mutations
ICGC Data PortalDSC1 
TCGA Data PortalDSC1 
Broad Tumor PortalDSC1
OASIS PortalDSC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSC1
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 DSC1
DgiDB (Drug Gene Interaction Database)DSC1
DoCM (Curated mutations)DSC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSC1 (select a term)
intoGenDSC1
Cancer3DDSC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125643   
Orphanet
MedgenDSC1
Genetic Testing Registry DSC1
NextProtQ08554 [Medical]
TSGene1823
GENETestsDSC1
Target ValidationDSC1
Huge Navigator DSC1 [HugePedia]
snp3D : Map Gene to Disease1823
BioCentury BCIQDSC1
ClinGenDSC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1823
Chemical/Pharm GKB GenePA27488
Clinical trialDSC1
Miscellaneous
canSAR (ICR)DSC1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSC1
EVEXDSC1
GoPubMedDSC1
iHOPDSC1
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 18 13:52:02 CEST 2017

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