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MBD1 (methyl-CpG binding domain protein 1)

Identity

Alias_symbol (synonym)PCM1
CXXC3
Other aliasRFT
HGNC (Hugo) MBD1
LocusID (NCBI) 4152
Atlas_Id 41308
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 50268846 and ends at 50281774 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)
ARHGAP6 (Xp22.2) / MBD1 (18q21.1)JAK2 (9p24.1) / MBD1 (18q21.1)MBD1 (18q21.1) / CFAP53 (18q21.1)
MBD1 (18q21.1) / JAK2 (9p24.1)MBD1 (18q21.1) / RET (10q11.21)RET (10q11.21) / MBD1 (18q21.1)

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

 

Breakpoints

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  MBD1/CFAP53 (18q21)


External links

Nomenclature
HGNC (Hugo)MBD1   6916
Cards
Entrez_Gene (NCBI)MBD1  4152  methyl-CpG binding domain protein 1
AliasesCXXC3; PCM1; RFT
GeneCards (Weizmann)MBD1
Ensembl hg19 (Hinxton)ENSG00000141644 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141644 [Gene_View]  ENSG00000141644 [Sequence]  chr18:50268846-50281774 [Contig_View]  MBD1 [Vega]
ICGC DataPortalENSG00000141644
TCGA cBioPortalMBD1
AceView (NCBI)MBD1
Genatlas (Paris)MBD1
WikiGenes4152
SOURCE (Princeton)MBD1
Genetics Home Reference (NIH)MBD1
Genomic and cartography
GoldenPath hg38 (UCSC)MBD1  -     chr18:50268846-50281774 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBD1  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblMBD1 - 22q12.3 [CytoView hg19]  MBD1 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIMBD1 [Mapview hg19]  MBD1 [Mapview hg38]
OMIM156535   
Gene and transcription
Genbank (Entrez)AB209765 AF072241 AF078830 AF078831 AF078832
RefSeq transcript (Entrez)NM_001204136 NM_001204137 NM_001204138 NM_001204139 NM_001204140 NM_001204141 NM_001204142 NM_001204143 NM_001204151 NM_001323942 NM_001323947 NM_001323949 NM_001323950 NM_001323951 NM_001323952 NM_001323953 NM_001323954 NM_002384 NM_015844 NM_015845 NM_015846 NM_015847
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBD1
Cluster EST : UnigeneHs.405610 [ NCBI ]
CGAP (NCI)Hs.405610
Alternative Splicing GalleryENSG00000141644
Gene ExpressionMBD1 [ NCBI-GEO ]   MBD1 [ EBI - ARRAY_EXPRESS ]   MBD1 [ SEEK ]   MBD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4152
GTEX Portal (Tissue expression)MBD1
Human Protein AtlasENSG00000141644-MBD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UIS9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UIS9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UIS9
Splice isoforms : SwissVarQ9UIS9
PhosPhoSitePlusQ9UIS9
Domaine pattern : Prosite (Expaxy)MBD (PS50982)    ZF_CXXC (PS51058)   
Domains : Interpro (EBI)DNA-bd_dom_sf    Methyl_CpG_DNA-bd    Znf_CXXC   
Domain families : Pfam (Sanger)MBD (PF01429)    zf-CXXC (PF02008)   
Domain families : Pfam (NCBI)pfam01429    pfam02008   
Domain families : Smart (EMBL)MBD (SM00391)  
Conserved Domain (NCBI)MBD1
DMDM Disease mutations4152
Blocks (Seattle)MBD1
PDB (SRS)1D9N    1IG4    4D4W    5W9Q   
PDB (PDBSum)1D9N    1IG4    4D4W    5W9Q   
PDB (IMB)1D9N    1IG4    4D4W    5W9Q   
PDB (RSDB)1D9N    1IG4    4D4W    5W9Q   
Structural Biology KnowledgeBase1D9N    1IG4    4D4W    5W9Q   
SCOP (Structural Classification of Proteins)1D9N    1IG4    4D4W    5W9Q   
CATH (Classification of proteins structures)1D9N    1IG4    4D4W    5W9Q   
SuperfamilyQ9UIS9
Human Protein Atlas [tissue]ENSG00000141644-MBD1 [tissue]
Peptide AtlasQ9UIS9
HPRD01133
IPIIPI00438701   IPI00438702   IPI00941642   IPI00438705   IPI00438706   IPI00438707   IPI00854577   IPI00910016   IPI00556518   IPI00985253   IPI01013776   IPI00984139   IPI00438703   IPI00981978   IPI00438704   
Protein Interaction databases
DIP (DOE-UCLA)Q9UIS9
IntAct (EBI)Q9UIS9
FunCoupENSG00000141644
BioGRIDMBD1
STRING (EMBL)MBD1
ZODIACMBD1
Ontologies - Pathways
QuickGOQ9UIS9
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  protein binding  nucleus  nucleus  chromosome  methylation-dependent chromatin silencing  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  zinc ion binding  methyl-CpG binding  methyl-CpG binding  methyl-CpG binding  double-stranded methylated DNA binding  nuclear matrix  nuclear speck  negative regulation of transcription, DNA-templated  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  protein binding  nucleus  nucleus  chromosome  methylation-dependent chromatin silencing  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  zinc ion binding  methyl-CpG binding  methyl-CpG binding  methyl-CpG binding  double-stranded methylated DNA binding  nuclear matrix  nuclear speck  negative regulation of transcription, DNA-templated  
NDEx NetworkMBD1
Atlas of Cancer Signalling NetworkMBD1
Wikipedia pathwaysMBD1
Orthology - Evolution
OrthoDB4152
GeneTree (enSembl)ENSG00000141644
Phylogenetic Trees/Animal Genes : TreeFamMBD1
HOVERGENQ9UIS9
HOGENOMQ9UIS9
Homologs : HomoloGeneMBD1
Homology/Alignments : Family Browser (UCSC)MBD1
Gene fusions - Rearrangements
Fusion : QuiverMBD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBD1
dbVarMBD1
ClinVarMBD1
1000_GenomesMBD1 
Exome Variant ServerMBD1
ExAC (Exome Aggregation Consortium)ENSG00000141644
GNOMAD BrowserENSG00000141644
Varsome BrowserMBD1
Genetic variants : HAPMAP4152
Genomic Variants (DGV)MBD1 [DGVbeta]
DECIPHERMBD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBD1 
Mutations
ICGC Data PortalMBD1 
TCGA Data PortalMBD1 
Broad Tumor PortalMBD1
OASIS PortalMBD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MBD1
DgiDB (Drug Gene Interaction Database)MBD1
DoCM (Curated mutations)MBD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBD1 (select a term)
intoGenMBD1
Cancer3DMBD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM156535   
Orphanet
DisGeNETMBD1
MedgenMBD1
Genetic Testing Registry MBD1
NextProtQ9UIS9 [Medical]
TSGene4152
GENETestsMBD1
Target ValidationMBD1
Huge Navigator MBD1 [HugePedia]
snp3D : Map Gene to Disease4152
BioCentury BCIQMBD1
ClinGenMBD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4152
Chemical/Pharm GKB GenePA30659
Clinical trialMBD1
Miscellaneous
canSAR (ICR)MBD1 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBD1
EVEXMBD1
GoPubMedMBD1
iHOPMBD1
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 Aug 16 11:13:35 CEST 2018

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