Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DMBX1 (diencephalon/mesencephalon homeobox 1)

Identity

Alias_namesOTX3
orthodenticle homolog 3 (Drosophila)
Alias_symbol (synonym)PAXB
Other aliasMBX
HGNC (Hugo) DMBX1
LocusID (NCBI) 127343
Atlas_Id 62531
Location 1p33  [Link to chromosome band 1p33]
Location_base_pair Starts at 46506996 and ends at 46514214 bp from pter ( according to hg38-Dec_2013)

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)DMBX1   19026
Cards
Entrez_Gene (NCBI)DMBX1  127343  diencephalon/mesencephalon homeobox 1
AliasesMBX; OTX3; PAXB
GeneCards (Weizmann)DMBX1
Ensembl hg19 (Hinxton)ENSG00000197587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197587 [Gene_View]  chr1:46506996-46514214 [Contig_View]  DMBX1 [Vega]
ICGC DataPortalENSG00000197587
TCGA cBioPortalDMBX1
AceView (NCBI)DMBX1
Genatlas (Paris)DMBX1
WikiGenes127343
SOURCE (Princeton)DMBX1
Genetics Home Reference (NIH)DMBX1
Genomic and cartography
GoldenPath hg38 (UCSC)DMBX1  -     chr1:46506996-46514214 +  1p33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMBX1  -     1p33   [Description]    (hg19-Feb_2009)
EnsemblDMBX1 - 1p33 [CytoView hg19]  DMBX1 - 1p33 [CytoView hg38]
Mapping of homologs : NCBIDMBX1 [Mapview hg19]  DMBX1 [Mapview hg38]
OMIM607410   
Gene and transcription
Genbank (Entrez)AB037699 AF398527 AF398528 AY726596 BC156064
RefSeq transcript (Entrez)NM_147192 NM_172225
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DMBX1
Cluster EST : UnigeneHs.375623 [ NCBI ]
CGAP (NCI)Hs.375623
Alternative Splicing GalleryENSG00000197587
Gene ExpressionDMBX1 [ NCBI-GEO ]   DMBX1 [ EBI - ARRAY_EXPRESS ]   DMBX1 [ SEEK ]   DMBX1 [ MEM ]
Gene Expression Viewer (FireBrowse)DMBX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)127343
GTEX Portal (Tissue expression)DMBX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFW5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFW5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFW5
Splice isoforms : SwissVarQ8NFW5
PhosPhoSitePlusQ8NFW5
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)DMBX1
DMDM Disease mutations127343
Blocks (Seattle)DMBX1
SuperfamilyQ8NFW5
Human Protein AtlasENSG00000197587
Peptide AtlasQ8NFW5
HPRD07593
IPIIPI00219522   IPI00335270   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFW5
IntAct (EBI)Q8NFW5
FunCoupENSG00000197587
BioGRIDDMBX1
STRING (EMBL)DMBX1
ZODIACDMBX1
Ontologies - Pathways
QuickGOQ8NFW5
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription factor complex  transcription, DNA-templated  central nervous system development  brain development  adult feeding behavior  adult locomotory behavior  protein homodimerization activity  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  protein heterodimerization activity  developmental growth  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription factor complex  transcription, DNA-templated  central nervous system development  brain development  adult feeding behavior  adult locomotory behavior  protein homodimerization activity  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  protein heterodimerization activity  developmental growth  
NDEx NetworkDMBX1
Atlas of Cancer Signalling NetworkDMBX1
Wikipedia pathwaysDMBX1
Orthology - Evolution
OrthoDB127343
GeneTree (enSembl)ENSG00000197587
Phylogenetic Trees/Animal Genes : TreeFamDMBX1
HOVERGENQ8NFW5
HOGENOMQ8NFW5
Homologs : HomoloGeneDMBX1
Homology/Alignments : Family Browser (UCSC)DMBX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMBX1
dbVarDMBX1
ClinVarDMBX1
1000_GenomesDMBX1 
Exome Variant ServerDMBX1
ExAC (Exome Aggregation Consortium)DMBX1 (select the gene name)
Genetic variants : HAPMAP127343
Genomic Variants (DGV)DMBX1 [DGVbeta]
DECIPHERDMBX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDMBX1 
Mutations
ICGC Data PortalDMBX1 
TCGA Data PortalDMBX1 
Broad Tumor PortalDMBX1
OASIS PortalDMBX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMBX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDMBX1
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 DMBX1
DgiDB (Drug Gene Interaction Database)DMBX1
DoCM (Curated mutations)DMBX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMBX1 (select a term)
intoGenDMBX1
Cancer3DDMBX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607410   
Orphanet
MedgenDMBX1
Genetic Testing Registry DMBX1
NextProtQ8NFW5 [Medical]
TSGene127343
GENETestsDMBX1
Target ValidationDMBX1
Huge Navigator DMBX1 [HugePedia]
snp3D : Map Gene to Disease127343
BioCentury BCIQDMBX1
ClinGenDMBX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD127343
Chemical/Pharm GKB GenePA38780
Clinical trialDMBX1
Miscellaneous
canSAR (ICR)DMBX1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMBX1
EVEXDMBX1
GoPubMedDMBX1
iHOPDMBX1
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 15:46:05 CEST 2017

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