Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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DES (desmin)

Identity

Other namesCSM1
CSM2
LGMD2R
HGNC (Hugo) DES
LocusID (NCBI) 1674
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
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   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 : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17661 (Uniprot)
NextProtP17661  [Medical]
With graphics : InterProP17661
Splice isoforms : SwissVarP17661 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DES    IF    Intermed_filament_DNA-bd    Intermediate_filament_CS   
Related proteins : CluSTrP17661
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations1674
Blocks (Seattle)P17661
Human Protein AtlasENSG00000175084
Peptide AtlasP17661
HPRD00514
IPIIPI00465084   
Protein Interaction databases
DIP (DOE-UCLA)P17661
IntAct (EBI)P17661
FunCoupENSG00000175084
BioGRIDDES
IntegromeDBDES
STRING (EMBL)DES
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  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  extracellular exosome  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
Protein Interaction DatabaseDES
DoCM (Curated mutations)DES
Wikipedia pathwaysDES
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDES [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DES
dbVarDES
ClinVarDES
1000_GenomesDES 
Exome Variant ServerDES
SNP (GeneSNP Utah)DES
SNP : HGBaseDES
Genetic variants : HAPMAPDES
Genomic Variants (DGV)DES [DGVbeta]
Mutations
ICGC Data PortalENSG00000175084 
Somatic Mutations in Cancer : COSMICDES 
CONAN: Copy Number AnalysisDES 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:220283099-220291461
Mutations and Diseases : HGMDDES
OMIM125660    181400    601419    604765    615325   
MedgenDES
NextProtP17661 [Medical]
GENETestsDES
Disease Genetic AssociationDES
Huge Navigator DES [HugePedia]  DES [HugeCancerGEM]
snp3D : Map Gene to Disease1674
DGIdb (Drug Gene Interaction db)DES
General knowledge
Homologs : HomoloGeneDES
Homology/Alignments : Family Browser (UCSC)DES
Phylogenetic Trees/Animal Genes : TreeFamDES
Chemical/Protein Interactions : CTD1674
Chemical/Pharm GKB GenePA27253
Clinical trialDES
Cancer Resource (Charite)ENSG00000175084
Other databases
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
CoreMineDES
GoPubMedDES
iHOPDES
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 Mar 28 15:12:12 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.