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DSP (desmoplakin)

Identity

Other namesDCWHKTA
DP
HGNC (Hugo) DSP
LocusID (NCBI) 1832
Atlas_Id 45936
Location 6p24.3
Location_base_pair Starts at 7541808 and ends at 7586950 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APOA1BP (1q23.1) / DSP (6p24.3)DDX17 (22q13.1) / DSP (6p24.3)DSP (6p24.3) / DSP (6p24.3)
DSP (6p24.3) / SAMD4A (14q22.2)GPRC5A (12p13.1) / DSP (6p24.3)HSPA4L (4q28.1) / DSP (6p24.3)
LIMD1 (3p21.31) / DSP (6p24.3)MYO6 (6q14.1) / DSP (6p24.3)PPA1 (10q22.1) / DSP (6p24.3)
TCOF1 (5q32) / DSP (6p24.3)WIPF2 (17q21.1) / DSP (6p24.3)

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)DSP   3052
Cards
Entrez_Gene (NCBI)DSP  1832  desmoplakin
AliasesDCWHKTA; DP
GeneCards (Weizmann)DSP
Ensembl hg19 (Hinxton)ENSG00000096696 [Gene_View]  chr6:7541808-7586950 [Contig_View]  DSP [Vega]
Ensembl hg38 (Hinxton)ENSG00000096696 [Gene_View]  chr6:7541808-7586950 [Contig_View]  DSP [Vega]
ICGC DataPortalENSG00000096696
TCGA cBioPortalDSP
AceView (NCBI)DSP
Genatlas (Paris)DSP
WikiGenes1832
SOURCE (Princeton)DSP
Genomic and cartography
GoldenPath hg19 (UCSC)DSP  -     chr6:7541808-7586950 +  6p24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSP  -     6p24.3   [Description]    (hg38-Dec_2013)
EnsemblDSP - 6p24.3 [CytoView hg19]  DSP - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBIDSP [Mapview hg19]  DSP [Mapview hg38]
OMIM125647   605676   607450   607655   609638   612908   615821   
Gene and transcription
Genbank (Entrez)AB209992 AB621818 AF139065 AI304615 AK130229
RefSeq transcript (Entrez)NM_001008844 NM_001319034 NM_004415
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008803 NT_007592 NW_004929326
Consensus coding sequences : CCDS (NCBI)DSP
Cluster EST : UnigeneHs.519873 [ NCBI ]
CGAP (NCI)Hs.519873
Alternative Splicing GalleryENSG00000096696
Gene ExpressionDSP [ NCBI-GEO ]   DSP [ EBI - ARRAY_EXPRESS ]   DSP [ SEEK ]   DSP [ MEM ]
Gene Expression Viewer (FireBrowse)DSP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1832
GTEX Portal (Tissue expression)DSP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15924 (Uniprot)
NextProtP15924  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15924
Splice isoforms : SwissVarP15924 (Swissvar)
PhosPhoSitePlusP15924
Domains : Interpro (EBI)Desmoplakin    Plectin_repeat    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)Plectin (PF00681)   
Domain families : Pfam (NCBI)pfam00681   
Domain families : Smart (EMBL)PLEC (SM00250)  SPEC (SM00150)  
DMDM Disease mutations1832
Blocks (Seattle)DSP
PDB (SRS)1LM5    1LM7    3R6N   
PDB (PDBSum)1LM5    1LM7    3R6N   
PDB (IMB)1LM5    1LM7    3R6N   
PDB (RSDB)1LM5    1LM7    3R6N   
Structural Biology KnowledgeBase1LM5    1LM7    3R6N   
SCOP (Structural Classification of Proteins)1LM5    1LM7    3R6N   
CATH (Classification of proteins structures)1LM5    1LM7    3R6N   
SuperfamilyP15924
Human Protein AtlasENSG00000096696
Peptide AtlasP15924
HPRD00513
IPIIPI00013933   IPI00217182   IPI01009332   IPI00872333   IPI00746877   
Protein Interaction databases
DIP (DOE-UCLA)P15924
IntAct (EBI)P15924
FunCoupENSG00000096696
BioGRIDDSP
STRING (EMBL)DSP
ZODIACDSP
Ontologies - Pathways
QuickGOP15924
Ontology : AmiGOcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  intermediate filament  plasma membrane  plasma membrane  fascia adherens  epidermis development  intercalated disc  intercalated disc  basolateral plasma membrane  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  wound healing  poly(A) RNA binding  intermediate filament organization  cell adhesion molecule binding  extracellular exosome  protein localization to adherens junction  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  scaffold protein binding  regulation of ventricular cardiac muscle cell action potential  
Ontology : EGO-EBIcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  intermediate filament  plasma membrane  plasma membrane  fascia adherens  epidermis development  intercalated disc  intercalated disc  basolateral plasma membrane  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  wound healing  poly(A) RNA binding  intermediate filament organization  cell adhesion molecule binding  extracellular exosome  protein localization to adherens junction  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  scaffold protein binding  regulation of ventricular cardiac muscle cell action potential  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx Network
Atlas of Cancer Signalling NetworkDSP
Wikipedia pathwaysDSP
Orthology - Evolution
OrthoDB1832
GeneTree (enSembl)ENSG00000096696
Phylogenetic Trees/Animal Genes : TreeFamDSP
Homologs : HomoloGeneDSP
Homology/Alignments : Family Browser (UCSC)DSP
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDSP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSP
dbVarDSP
ClinVarDSP
1000_GenomesDSP 
Exome Variant ServerDSP
ExAC (Exome Aggregation Consortium)DSP (select the gene name)
Genetic variants : HAPMAP1832
Genomic Variants (DGV)DSP [DGVbeta]
Mutations
ICGC Data PortalDSP 
TCGA Data PortalDSP 
Broad Tumor PortalDSP
OASIS PortalDSP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSP 
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
BioMutasearch DSP
DgiDB (Drug Gene Interaction Database)DSP
DoCM (Curated mutations)DSP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSP (select a term)
intoGenDSP
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:7541808-7586950  ENSG00000096696
CONAN: Copy Number AnalysisDSP 
Mutations and Diseases : HGMDDSP
OMIM125647    605676    607450    607655    609638    612908    615821   
MedgenDSP
Genetic Testing Registry DSP
NextProtP15924 [Medical]
TSGene1832
GENETestsDSP
Huge Navigator DSP [HugePedia]
snp3D : Map Gene to Disease1832
BioCentury BCIQDSP
ClinGenDSP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1832
Chemical/Pharm GKB GenePA27505
Clinical trialDSP
Miscellaneous
canSAR (ICR)DSP (select the gene name)
Probes
Litterature
PubMed159 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSP
EVEXDSP
GoPubMedDSP
iHOPDSP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:00:54 CEST 2016

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