MBD3L1 (methyl-CpG binding domain protein 3 like 1)

1. Identity

Alias_names
General Information
methyl-CpG binding domain protein 3-like
Other alias
HGNC (Hugo) MBD3L1
LocusID (NCBI) 85509
Atlas_Id 47374
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 8842593 and ends at 8843340 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)

2. DNA/RNA

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

 


3. External links

Nomenclature
HGNC (Hugo)MBD3L1   15774
Cards
Entrez_Gene (NCBI)MBD3L1  85509  methyl-CpG binding domain protein 3 like 1
AliasesMBD3L
GeneCards (Weizmann)MBD3L1
Ensembl hg19 (Hinxton)ENSG00000170948 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170948 [Gene_View] &nbspENSG00000170948 [Sequence]  chr19:8842593-8843340 [Contig_View]  MBD3L1 [Vega]
ICGC DataPortalENSG00000170948
TCGA cBioPortalMBD3L1
AceView (NCBI)MBD3L1
Genatlas (Paris)MBD3L1
WikiGenes85509
SOURCE (Princeton)MBD3L1
Genetics Home Reference (NIH)MBD3L1
Genomic and cartography
GoldenPath hg38 (UCSC)MBD3L1  -     chr19:8842593-8843340 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBD3L1  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblMBD3L1 - 19p13.2 [CytoView hg19]  MBD3L1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIMBD3L1 [Mapview hg19]  MBD3L1 [Mapview hg38]
OMIM607963   
Gene and transcription
Genbank (Entrez)AB451462 AY038022 BC112058 BC112064
RefSeq transcript (Entrez)NM_145208
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBD3L1
Cluster EST : UnigeneHs.133912 [ NCBI ]
CGAP (NCI)Hs.133912
Alternative Splicing GalleryENSG00000170948
Gene ExpressionMBD3L1 [ NCBI-GEO ]   MBD3L1 [ EBI - ARRAY_EXPRESS ]   MBD3L1 [ SEEK ]   MBD3L1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBD3L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)85509
GTEX Portal (Tissue expression)MBD3L1
Human Protein AtlasENSG00000170948-MBD3L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WWY6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WWY6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WWY6
Splice isoforms : SwissVarQ8WWY6
PhosPhoSitePlusQ8WWY6
Domains : Interpro (EBI)MBD2/MBD3_p55-bd    MeCpG-bd_2/3_C_dom   
Domain families : Pfam (Sanger)MBD_C (PF14048)    MBDa (PF16564)   
Domain families : Pfam (NCBI)pfam14048    pfam16564   
Conserved Domain (NCBI)MBD3L1
DMDM Disease mutations85509
Blocks (Seattle)MBD3L1
SuperfamilyQ8WWY6
Human Protein Atlas [tissue]ENSG00000170948-MBD3L1 [tissue]
Peptide AtlasQ8WWY6
HPRD12138
IPIIPI00103478   
Protein Interaction databases
DIP (DOE-UCLA)Q8WWY6
IntAct (EBI)Q8WWY6
FunCoupENSG00000170948
BioGRIDMBD3L1
STRING (EMBL)MBD3L1
ZODIACMBD3L1
Ontologies - Pathways
QuickGOQ8WWY6
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  protein binding  nucleus  methylation-dependent chromatin silencing  methyl-CpG binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  protein binding  nucleus  methylation-dependent chromatin silencing  methyl-CpG binding  
NDEx NetworkMBD3L1
Atlas of Cancer Signalling NetworkMBD3L1
Wikipedia pathwaysMBD3L1
Orthology - Evolution
OrthoDB85509
GeneTree (enSembl)ENSG00000170948
Phylogenetic Trees/Animal Genes : TreeFamMBD3L1
HOGENOMQ8WWY6
Homologs : HomoloGeneMBD3L1
Homology/Alignments : Family Browser (UCSC)MBD3L1
Gene fusions - Rearrangements
Fusion : QuiverMBD3L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBD3L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBD3L1
dbVarMBD3L1
ClinVarMBD3L1
1000_GenomesMBD3L1 
Exome Variant ServerMBD3L1
ExAC (Exome Aggregation Consortium)ENSG00000170948
GNOMAD BrowserENSG00000170948
Varsome BrowserMBD3L1
Genetic variants : HAPMAP85509
Genomic Variants (DGV)MBD3L1 [DGVbeta]
DECIPHERMBD3L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBD3L1 
Mutations
ICGC Data PortalMBD3L1 
TCGA Data PortalMBD3L1 
Broad Tumor PortalMBD3L1
OASIS PortalMBD3L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBD3L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBD3L1
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 MBD3L1
DgiDB (Drug Gene Interaction Database)MBD3L1
DoCM (Curated mutations)MBD3L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBD3L1 (select a term)
intoGenMBD3L1
Cancer3DMBD3L1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607963   
Orphanet
DisGeNETMBD3L1
MedgenMBD3L1
Genetic Testing Registry MBD3L1
NextProtQ8WWY6 [Medical]
TSGene85509
GENETestsMBD3L1
Target ValidationMBD3L1
Huge Navigator MBD3L1 [HugePedia]
snp3D : Map Gene to Disease85509
BioCentury BCIQMBD3L1
ClinGenMBD3L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85509
Chemical/Pharm GKB GenePA30662
Clinical trialMBD3L1
Miscellaneous
canSAR (ICR)MBD3L1 (select the gene name)
DataMed IndexMBD3L1
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBD3L1
EVEXMBD3L1
GoPubMedMBD3L1
iHOPMBD3L1
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 18:22:30 CET 2019

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