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DES (desmin)

Identity

Other namesCSM1
CSM2
LGMD2R
HGNC (Hugo) DES
LocusID (NCBI) 1674
Atlas_Id 50579
Location 2q35
Location_base_pair Starts at 220283099 and ends at 220291461 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)DES   2770
Cards
Entrez_Gene (NCBI)DES  1674  desmin
GeneCards (Weizmann)DES
Ensembl hg19 (Hinxton)ENSG00000175084 [Gene_View]  chr2:220283099-220291461 [Contig_View]  DES [Vega]
Ensembl hg38 (Hinxton)ENSG00000175084 [Gene_View]  chr2:220283099-220291461 [Contig_View]  DES [Vega]
ICGC DataPortalENSG00000175084
TCGA cBioPortalDES
AceView (NCBI)DES
Genatlas (Paris)DES
WikiGenes1674
SOURCE (Princeton)DES
Genomic and cartography
GoldenPath hg19 (UCSC)DES  -     chr2:220283099-220291461 +  2q35   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DES  -     2q35   [Description]    (hg38-Dec_2013)
EnsemblDES - 2q35 [CytoView hg19]  DES - 2q35 [CytoView hg38]
Mapping of homologs : NCBIDES [Mapview hg19]  DES [Mapview hg38]
OMIM125660   181400   601419   602067   604765   615325   
Gene and transcription
Genbank (Entrez)AF055081 AF055082 AF055083 AF137053 AF167579
RefSeq transcript (Entrez)NM_001927
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008043 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)DES
Cluster EST : UnigeneHs.594952 [ NCBI ]
CGAP (NCI)Hs.594952
Alternative Splicing : Fast-db (Paris)GSHG0017215
Alternative Splicing GalleryENSG00000175084
Gene ExpressionDES [ NCBI-GEO ]     DES [ SEEK ]   DES [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1674
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17661 (Uniprot)
NextProtP17661  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17661
Splice isoforms : SwissVarP17661 (Swissvar)
PhosPhoSitePlusP17661
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DES    IF    Intermed_filament_DNA-bd    Intermediate_filament_CS   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations1674
Blocks (Seattle)DES
Human Protein AtlasENSG00000175084
Peptide AtlasP17661
HPRD00514
IPIIPI00465084   
Protein Interaction databases
DIP (DOE-UCLA)P17661
IntAct (EBI)P17661
FunCoupENSG00000175084
BioGRIDDES
IntegromeDBDES
STRING (EMBL)DES
ZODIACDES
Ontologies - Pathways
QuickGOP17661
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytosol  intermediate filament  fascia adherens  muscle contraction  cytoskeleton organization  regulation of heart contraction  cytoskeletal protein binding  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  intermediate filament cytoskeleton  extracellular exosome  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytosol  intermediate filament  fascia adherens  muscle contraction  cytoskeleton organization  regulation of heart contraction  cytoskeletal protein binding  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  intermediate filament cytoskeleton  extracellular exosome  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
Protein Interaction DatabaseDES
Atlas of Cancer Signalling NetworkDES
Wikipedia pathwaysDES
Orthology - Evolution
OrthoDB1674
GeneTree (enSembl)ENSG00000175084
Phylogenetic Trees/Animal Genes : TreeFamDES
Homologs : HomoloGeneDES
Homology/Alignments : Family Browser (UCSC)DES
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDES [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DES
dbVarDES
ClinVarDES
1000_GenomesDES 
Exome Variant ServerDES
Exome Aggregation Consortium (ExAC)ENSG00000175084
SNP (GeneSNP Utah)DES
SNP : HGBaseDES
Genetic variants : HAPMAPDES
Genomic Variants (DGV)DES [DGVbeta]
Mutations
ICGC Data PortalDES 
TCGA Data PortalDES 
Tumor PortalDES
TCGA Copy Number PortalDES
Somatic Mutations in Cancer : COSMICDES 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
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
BioMutasearch DES
DgiDB (Drug Gene Interaction Database)DES
DoCM (Curated mutations)DES (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DES (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:220283099-220291461
CONAN: Copy Number AnalysisDES 
Mutations and Diseases : HGMDDES
OMIM125660    181400    601419    602067    604765    615325   
MedgenDES
NextProtP17661 [Medical]
TSGene1674
GENETestsDES
Huge Navigator DES [HugePedia]  DES [HugeCancerGEM]
snp3D : Map Gene to Disease1674
BioCentury BCIQDES
General knowledge
Chemical/Protein Interactions : CTD1674
Chemical/Pharm GKB GenePA27253
Clinical trialDES
Other databases
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDES
GoPubMedDES
iHOPDES
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 18:28:17 CET 2016

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