Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DMRT1 (doublesex and mab-3 related transcription factor 1)

Identity

Alias_symbol (synonym)DMT1
CT154
Other alias
HGNC (Hugo) DMRT1
LocusID (NCBI) 1761
Atlas_Id 52809
Location 9p24.3  [Link to chromosome band 9p24]
Location_base_pair Starts at 841690 and ends at 969091 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CD274 (9p24.1) / DMRT1 (9p24.3)DMRT1 (9p24.3) / BCL6 (3q27.3)SMARCA2 (9p24.3) / DMRT1 (9p24.3)
SMARCA2 9p24.3 / DMRT1 9p24.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;9)(q27;p24) DMRT1/BCL6

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Testis: Spermatocytic seminoma

External links

Nomenclature
HGNC (Hugo)DMRT1   2934
Cards
Entrez_Gene (NCBI)DMRT1  1761  doublesex and mab-3 related transcription factor 1
AliasesCT154; DMT1
GeneCards (Weizmann)DMRT1
Ensembl hg19 (Hinxton)ENSG00000137090 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137090 [Gene_View]  chr9:841690-969091 [Contig_View]  DMRT1 [Vega]
ICGC DataPortalENSG00000137090
TCGA cBioPortalDMRT1
AceView (NCBI)DMRT1
Genatlas (Paris)DMRT1
WikiGenes1761
SOURCE (Princeton)DMRT1
Genetics Home Reference (NIH)DMRT1
Genomic and cartography
GoldenPath hg38 (UCSC)DMRT1  -     chr9:841690-969091 +  9p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMRT1  -     9p24.3   [Description]    (hg19-Feb_2009)
EnsemblDMRT1 - 9p24.3 [CytoView hg19]  DMRT1 - 9p24.3 [CytoView hg38]
Mapping of homologs : NCBIDMRT1 [Mapview hg19]  DMRT1 [Mapview hg38]
OMIM602424   
Gene and transcription
Genbank (Entrez)AF130728 AJ276801 AK310336 AK313594 AL162131
RefSeq transcript (Entrez)NM_021951
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DMRT1
Cluster EST : UnigeneHs.98586 [ NCBI ]
CGAP (NCI)Hs.98586
Alternative Splicing GalleryENSG00000137090
Gene ExpressionDMRT1 [ NCBI-GEO ]   DMRT1 [ EBI - ARRAY_EXPRESS ]   DMRT1 [ SEEK ]   DMRT1 [ MEM ]
Gene Expression Viewer (FireBrowse)DMRT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1761
GTEX Portal (Tissue expression)DMRT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5R6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5R6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5R6
Splice isoforms : SwissVarQ9Y5R6
PhosPhoSitePlusQ9Y5R6
Domaine pattern : Prosite (Expaxy)DM_1 (PS40000)    DM_2 (PS50809)   
Domains : Interpro (EBI)DM_DNA-bd    DMRT/dsx/mab-3    DMRT1-like   
Domain families : Pfam (Sanger)DM (PF00751)    Dmrt1 (PF12374)   
Domain families : Pfam (NCBI)pfam00751    pfam12374   
Domain families : Smart (EMBL)DM (SM00301)  
Conserved Domain (NCBI)DMRT1
DMDM Disease mutations1761
Blocks (Seattle)DMRT1
PDB (SRS)4YJ0   
PDB (PDBSum)4YJ0   
PDB (IMB)4YJ0   
PDB (RSDB)4YJ0   
Structural Biology KnowledgeBase4YJ0   
SCOP (Structural Classification of Proteins)4YJ0   
CATH (Classification of proteins structures)4YJ0   
SuperfamilyQ9Y5R6
Human Protein AtlasENSG00000137090
Peptide AtlasQ9Y5R6
HPRD03885
IPIIPI00001733   IPI00445344   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5R6
IntAct (EBI)Q9Y5R6
FunCoupENSG00000137090
BioGRIDDMRT1
STRING (EMBL)DMRT1
ZODIACDMRT1
Ontologies - Pathways
QuickGOQ9Y5R6
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  cell morphogenesis  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  male germ cell proliferation  chromatin binding  nucleus  nucleus  cytoplasm  transcription from RNA polymerase II promoter  spermatogenesis  germ cell migration  male sex determination  intracellular signal transduction  protein homodimerization activity  negative regulation of meiotic nuclear division  positive regulation of mitotic nuclear division  positive regulation of transcription from RNA polymerase II promoter  male sex differentiation  metal ion binding  protein heterodimerization activity  oocyte development  Sertoli cell differentiation  Sertoli cell development  positive regulation of meiosis I  regulation of nodal signaling pathway  positive regulation of male gonad development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  cell morphogenesis  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  male germ cell proliferation  chromatin binding  nucleus  nucleus  cytoplasm  transcription from RNA polymerase II promoter  spermatogenesis  germ cell migration  male sex determination  intracellular signal transduction  protein homodimerization activity  negative regulation of meiotic nuclear division  positive regulation of mitotic nuclear division  positive regulation of transcription from RNA polymerase II promoter  male sex differentiation  metal ion binding  protein heterodimerization activity  oocyte development  Sertoli cell differentiation  Sertoli cell development  positive regulation of meiosis I  regulation of nodal signaling pathway  positive regulation of male gonad development  
NDEx NetworkDMRT1
Atlas of Cancer Signalling NetworkDMRT1
Wikipedia pathwaysDMRT1
Orthology - Evolution
OrthoDB1761
GeneTree (enSembl)ENSG00000137090
Phylogenetic Trees/Animal Genes : TreeFamDMRT1
HOVERGENQ9Y5R6
HOGENOMQ9Y5R6
Homologs : HomoloGeneDMRT1
Homology/Alignments : Family Browser (UCSC)DMRT1
Gene fusions - Rearrangements
Fusion : MitelmanDMRT1/BCL6 [9p24.3/3q27.3]  
Fusion : MitelmanSMARCA2/DMRT1 [9p24.3/9p24.3]  [t(9;9)(p24;p24)]  
Fusion: TCGASMARCA2 9p24.3 DMRT1 9p24.3 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMRT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMRT1
dbVarDMRT1
ClinVarDMRT1
1000_GenomesDMRT1 
Exome Variant ServerDMRT1
ExAC (Exome Aggregation Consortium)DMRT1 (select the gene name)
Genetic variants : HAPMAP1761
Genomic Variants (DGV)DMRT1 [DGVbeta]
DECIPHERDMRT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDMRT1 
Mutations
ICGC Data PortalDMRT1 
TCGA Data PortalDMRT1 
Broad Tumor PortalDMRT1
OASIS PortalDMRT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMRT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDMRT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DMRT1
DgiDB (Drug Gene Interaction Database)DMRT1
DoCM (Curated mutations)DMRT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMRT1 (select a term)
intoGenDMRT1
Cancer3DDMRT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602424   
Orphanet1044   
MedgenDMRT1
Genetic Testing Registry DMRT1
NextProtQ9Y5R6 [Medical]
TSGene1761
GENETestsDMRT1
Target ValidationDMRT1
Huge Navigator DMRT1 [HugePedia]
snp3D : Map Gene to Disease1761
BioCentury BCIQDMRT1
ClinGenDMRT1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1761
Chemical/Pharm GKB GenePA27381
Clinical trialDMRT1
Miscellaneous
canSAR (ICR)DMRT1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMRT1
EVEXDMRT1
GoPubMedDMRT1
iHOPDMRT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:31:21 CEST 2017
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