Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DMD (dystrophin)

Identity

Alias_namesDuchenne and Becker types
MRX85
Alias_symbol (synonym)BMD
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
Other aliasCMD3B
HGNC (Hugo) DMD
LocusID (NCBI) 1756
Atlas_Id 46127
Location Xp21.2  [Link to chromosome band Xp21]
Location_base_pair Starts at 31119228 and ends at 32155469 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
APBB2 (4p14) / DMD (Xp21.2)C16orf52 (16p12.2) / DMD (Xp21.2)CPNE1 (20q11.22) / DMD (Xp21.2)
DMD (Xp21.2) / DDX46 (5q31.1)DMD (Xp21.2) / DMD (Xp21.2)DMD (Xp21.2) / LPP (3q28)
DMD (Xp21.2) / TMEM165 (4q12)IL1RAPL1 (Xp21.3) / DMD (Xp21.2)LRP1B (2q22.1) / DMD (Xp21.2)
RPLP1 (15q23) / DMD (Xp21.2)SH3KBP1 (Xp22.12) / DMD (Xp21.2)SSR1 (6p24.3) / DMD (Xp21.2)
TAB3 (Xp21.2) / DMD (Xp21.2)TADA2A (17q12) / DMD (Xp21.2)TXNIP (1q21.1) / DMD (Xp21.2)
VAPB (20q13.32) / DMD (Xp21.2)APBB2 4p14 / DMD Xp21.2CPNE1 20q11.22 / DMD Xp21.2
SSR1 6p24.3 / DMD Xp21.2TAB3 Xp21.2 / DMD Xp21.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(X;4)(p21;p13) APBB2/DMD
t(X;6)(p21;p24) SSR1/DMD
t(X;X)(p11;p21) KDM6A/DMD
TAB3/DMD (Xp21)
t(X;20)(p21;q11) CPNE1/DMD

External links

Nomenclature
HGNC (Hugo)DMD   2928
LRG (Locus Reference Genomic)LRG_199
Cards
Entrez_Gene (NCBI)DMD  1756  dystrophin
AliasesBMD; CMD3B; DXS142; DXS164; 
DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
GeneCards (Weizmann)DMD
Ensembl hg19 (Hinxton)ENSG00000198947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198947 [Gene_View]  ENSG00000198947 [Sequence]  chrX:31119228-32155469 [Contig_View]  DMD [Vega]
ICGC DataPortalENSG00000198947
TCGA cBioPortalDMD
AceView (NCBI)DMD
Genatlas (Paris)DMD
WikiGenes1756
SOURCE (Princeton)DMD
Genetics Home Reference (NIH)DMD
Genomic and cartography
GoldenPath hg38 (UCSC)DMD  -     chrX:31119228-32155469 -  Xp21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMD  -     Xp21.2   [Description]    (hg19-Feb_2009)
EnsemblDMD - Xp21.2 [CytoView hg19]  DMD - Xp21.2 [CytoView hg38]
Mapping of homologs : NCBIDMD [Mapview hg19]  DMD [Mapview hg38]
OMIM300376   300377   302045   310200   
Gene and transcription
Genbank (Entrez)AB208836 AK129855 AK299936 AK309142 BC009242
RefSeq transcript (Entrez)NM_000109 NM_004006 NM_004007 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004019 NM_004020 NM_004021 NM_004022 NM_004023
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DMD
Cluster EST : UnigeneHs.495912 [ NCBI ]
CGAP (NCI)Hs.495912
Alternative Splicing GalleryENSG00000198947
Gene ExpressionDMD [ NCBI-GEO ]   DMD [ EBI - ARRAY_EXPRESS ]   DMD [ SEEK ]   DMD [ MEM ]
Gene Expression Viewer (FireBrowse)DMD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1756
GTEX Portal (Tissue expression)DMD
Human Protein AtlasENSG00000198947-DMD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11532   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11532  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11532
Splice isoforms : SwissVarP11532
PhosPhoSitePlusP11532
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    Dystrophin    Dystrophin/utrophin    EF-hand-dom_pair    EF-hand_dom_typ1    EF-hand_dom_typ2    Spectrin/alpha-actinin    Spectrin_repeat    WW_dom    WW_dom_sf    Znf_ZZ   
Domain families : Pfam (Sanger)CH (PF00307)    EF-hand_2 (PF09068)    EF-hand_3 (PF09069)    Spectrin (PF00435)    WW (PF00397)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00307    pfam09068    pfam09069    pfam00435    pfam00397    pfam00569   
Domain families : Smart (EMBL)CH (SM00033)  SPEC (SM00150)  WW (SM00456)  ZnF_ZZ (SM00291)  
Conserved Domain (NCBI)DMD
DMDM Disease mutations1756
Blocks (Seattle)DMD
PDB (RSDB)1DXX    1EG3    1EG4    3UUN   
PDB Europe1DXX    1EG3    1EG4    3UUN   
PDB (PDBSum)1DXX    1EG3    1EG4    3UUN   
PDB (IMB)1DXX    1EG3    1EG4    3UUN   
Structural Biology KnowledgeBase1DXX    1EG3    1EG4    3UUN   
SCOP (Structural Classification of Proteins)1DXX    1EG3    1EG4    3UUN   
CATH (Classification of proteins structures)1DXX    1EG3    1EG4    3UUN   
SuperfamilyP11532
Human Protein Atlas [tissue]ENSG00000198947-DMD [tissue]
Peptide AtlasP11532
HPRD02303
IPIIPI00006091   IPI00220577   IPI00304639   IPI00184813   IPI01009672   IPI00002386   IPI00969542   IPI00816143   IPI00954471   IPI00946706   IPI00375141   IPI00304638   IPI00376366   IPI00872706   IPI00419537   IPI00376375   IPI00335579   IPI00184337   IPI01014779   IPI00647179   IPI00472316   IPI00639906   IPI00334178   IPI00376367   IPI00376374   IPI01011069   IPI00945365   IPI00334618   
Protein Interaction databases
DIP (DOE-UCLA)P11532
IntAct (EBI)P11532
FunCoupENSG00000198947
BioGRIDDMD
STRING (EMBL)DMD
ZODIACDMD
Ontologies - Pathways
QuickGOP11532
Ontology : AmiGOregulation of heart rate  dystroglycan binding  actin binding  actin binding  structural constituent of cytoskeleton  protein binding  cytosol  cytoskeleton  cytoskeleton organization  muscle organ development  zinc ion binding  structural constituent of muscle  structural constituent of muscle  cell surface  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  syntrophin complex  lateral plasma membrane  myosin binding  vinculin binding  Z disc  muscle filament sliding  cell-substrate junction  filopodium  filopodium membrane  protein-containing complex  negative regulation of peptidyl-serine phosphorylation  cellular protein localization  cellular protein-containing complex assembly  response to muscle stretch  sarcolemma  costamere  peptide biosynthetic process  neuron projection terminus  membrane raft  synapse  postsynaptic membrane  muscle cell cellular homeostasis  muscle fiber development  nitric-oxide synthase binding  cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  cardiac muscle cell action potential  regulation of voltage-gated calcium channel activity  negative regulation of peptidyl-cysteine S-nitrosylation  positive regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBIregulation of heart rate  dystroglycan binding  actin binding  actin binding  structural constituent of cytoskeleton  protein binding  cytosol  cytoskeleton  cytoskeleton organization  muscle organ development  zinc ion binding  structural constituent of muscle  structural constituent of muscle  cell surface  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  syntrophin complex  lateral plasma membrane  myosin binding  vinculin binding  Z disc  muscle filament sliding  cell-substrate junction  filopodium  filopodium membrane  protein-containing complex  negative regulation of peptidyl-serine phosphorylation  cellular protein localization  cellular protein-containing complex assembly  response to muscle stretch  sarcolemma  costamere  peptide biosynthetic process  neuron projection terminus  membrane raft  synapse  postsynaptic membrane  muscle cell cellular homeostasis  muscle fiber development  nitric-oxide synthase binding  cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  cardiac muscle cell action potential  regulation of voltage-gated calcium channel activity  negative regulation of peptidyl-cysteine S-nitrosylation  positive regulation of sodium ion transmembrane transporter activity  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
NDEx NetworkDMD
Atlas of Cancer Signalling NetworkDMD
Wikipedia pathwaysDMD
Orthology - Evolution
OrthoDB1756
GeneTree (enSembl)ENSG00000198947
Phylogenetic Trees/Animal Genes : TreeFamDMD
HOGENOMP11532
Homologs : HomoloGeneDMD
Homology/Alignments : Family Browser (UCSC)DMD
Gene fusions - Rearrangements
Fusion : MitelmanAPBB2/DMD [4p14/Xp21.2]  [t(X;4)(p21;p13)]  
Fusion : MitelmanCPNE1/DMD [20q11.22/Xp21.2]  [t(X;20)(p21;q11)]  
Fusion : MitelmanSSR1/DMD [6p24.3/Xp21.2]  [t(X;6)(p21;p24)]  
Fusion : MitelmanTAB3/DMD [Xp21.2/Xp21.2]  [t(X;X)(p21;p21)]  
Fusion PortalAPBB2 4p14 DMD Xp21.2 BRCA
Fusion PortalCPNE1 20q11.22 DMD Xp21.2 LUAD
Fusion PortalSSR1 6p24.3 DMD Xp21.2 GBM
Fusion PortalTAB3 Xp21.2 DMD Xp21.2 BRCA
Fusion : QuiverDMD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMD
dbVarDMD
ClinVarDMD
1000_GenomesDMD 
Exome Variant ServerDMD
ExAC (Exome Aggregation Consortium)ENSG00000198947
GNOMAD BrowserENSG00000198947
Varsome BrowserDMD
Genetic variants : HAPMAP1756
Genomic Variants (DGV)DMD [DGVbeta]
DECIPHERDMD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDMD 
Mutations
ICGC Data PortalDMD 
TCGA Data PortalDMD 
Broad Tumor PortalDMD
OASIS PortalDMD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDMD
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch DMD
DgiDB (Drug Gene Interaction Database)DMD
DoCM (Curated mutations)DMD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMD (select a term)
intoGenDMD
Cancer3DDMD(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300376    300377    302045    310200   
Orphanet635    18519    3256    13912    13913   
DisGeNETDMD
MedgenDMD
Genetic Testing Registry DMD
NextProtP11532 [Medical]
TSGene1756
GENETestsDMD
Target ValidationDMD
Huge Navigator DMD [HugePedia]
snp3D : Map Gene to Disease1756
BioCentury BCIQDMD
ClinGenDMD (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1756
Chemical/Pharm GKB GenePA27378
Clinical trialDMD
Miscellaneous
canSAR (ICR)DMD (select the gene name)
DataMed IndexDMD
Probes
Litterature
PubMed441 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMD
EVEXDMD
GoPubMedDMD
iHOPDMD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:09:49 CET 2019
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