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X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DMD (dystrophin)

Identity

Alias (NCBI)BMD
CMD3B
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
MRX85
HGNC (Hugo) DMD
HGNC Alias symbBMD
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
HGNC Alias namemuscular dystrophy, Duchenne and Becker types
HGNC Previous nameMRX85
HGNC Previous namedystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
 mental retardation, X-linked 85
LocusID (NCBI) 1756
Atlas_Id 46127
Location Xp21.2  [Link to chromosome band Xp21]
Location_base_pair Starts at 31119226 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

 



External links

Nomenclature
HGNC (Hugo)DMD   2928
LRG (Locus Reference Genomic)LRG_199
Cards
Entrez_Gene (NCBI)DMD    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:31119226-32155469 [Contig_View]  DMD [Vega]
ICGC DataPortalENSG00000198947
TCGA cBioPortalDMD
AceView (NCBI)DMD
Genatlas (Paris)DMD
SOURCE (Princeton)DMD
Genetics Home Reference (NIH)DMD
Genomic and cartography
GoldenPath hg38 (UCSC)DMD  -     chrX:31119226-32155469 -  Xp21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMD  -     Xp21.2   [Description]    (hg19-Feb_2009)
GoldenPathDMD - Xp21.2 [CytoView hg19]  DMD - Xp21.2 [CytoView hg38]
ImmunoBaseENSG00000198947
genome Data Viewer NCBIDMD [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000198947
Gene ExpressionDMD [ NCBI-GEO ]   DMD [ EBI - ARRAY_EXPRESS ]   DMD [ SEEK ]   DMD [ MEM ]
Gene Expression Viewer (FireBrowse)DMD [ Firebrowse - Broad ]
GenevisibleExpression of DMD 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
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DMD
Blocks (Seattle)DMD
Human Protein Atlas [tissue]ENSG00000198947-DMD [tissue]
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
BioGRIDDMD
STRING (EMBL)DMD
ZODIACDMD
Ontologies - Pathways
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDMD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:18:39 CET 2021

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