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DES (desmin)

Identity

Alias_symbol (synonym)CMD1I
CSM1
CSM2
HGNC (Hugo) DES
LocusID (NCBI) 1674
Atlas_Id 50579
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 220283099 and ends at 220291461 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CRYAB (11q23.1) / DES (2q35)DES (2q35) / DES (2q35)DES (2q35) / PFN1 (17p13.2)
DNAJC15 (13q14.11) / DES (2q35)RASSF4 (10q11.21) / DES (2q35)

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
LRG (Locus Reference Genomic)LRG_380
Cards
Entrez_Gene (NCBI)DES  1674  desmin
AliasesCSM1; CSM2; LGMD2R
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
Genetics Home Reference (NIH)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 GalleryENSG00000175084
Gene ExpressionDES [ NCBI-GEO ]   DES [ EBI - ARRAY_EXPRESS ]   DES [ SEEK ]   DES [ MEM ]
Gene Expression Viewer (FireBrowse)DES [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1674
GTEX Portal (Tissue expression)DES
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17661   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17661  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17661
Splice isoforms : SwissVarP17661
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   
Conserved Domain (NCBI)DES
DMDM Disease mutations1674
Blocks (Seattle)DES
SuperfamilyP17661
Human Protein AtlasENSG00000175084
Peptide AtlasP17661
HPRD00514
IPIIPI00465084   
Protein Interaction databases
DIP (DOE-UCLA)P17661
IntAct (EBI)P17661
FunCoupENSG00000175084
BioGRIDDES
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  intercalated disc  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  intermediate filament organization  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  intercalated disc  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  intermediate filament organization  intermediate filament cytoskeleton  extracellular exosome  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkDES
Atlas of Cancer Signalling NetworkDES
Wikipedia pathwaysDES
Orthology - Evolution
OrthoDB1674
GeneTree (enSembl)ENSG00000175084
Phylogenetic Trees/Animal Genes : TreeFamDES
HOVERGENP17661
HOGENOMP17661
Homologs : HomoloGeneDES
Homology/Alignments : Family Browser (UCSC)DES
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDES [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DES
dbVarDES
ClinVarDES
1000_GenomesDES 
Exome Variant ServerDES
ExAC (Exome Aggregation Consortium)DES (select the gene name)
Genetic variants : HAPMAP1674
Genomic Variants (DGV)DES [DGVbeta]
DECIPHER (Syndromes)2:220283099-220291461  ENSG00000175084
CONAN: Copy Number AnalysisDES 
Mutations
ICGC Data PortalDES 
TCGA Data PortalDES 
Broad Tumor PortalDES
OASIS PortalDES [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDES  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDES
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)
intoGenDES
Cancer3DDES(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125660    181400    601419    602067    604765    615325   
Orphanet635    22321    10339    11628    13926   
MedgenDES
Genetic Testing Registry DES
NextProtP17661 [Medical]
TSGene1674
GENETestsDES
Huge Navigator DES [HugePedia]
snp3D : Map Gene to Disease1674
BioCentury BCIQDES
ClinGenDES
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1674
Chemical/Pharm GKB GenePA27253
Clinical trialDES
Miscellaneous
canSAR (ICR)DES (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDES
EVEXDES
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 : Fri Nov 18 19:35:39 CET 2016

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