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MBNL3 (muscleblind like splicing regulator 3)

Identity

Other aliasCHCR
MBLX
MBLX39
MBXL
HGNC (Hugo) MBNL3
LocusID (NCBI) 55796
Atlas_Id 57062
Location Xq26.2  [Link to chromosome band Xq26]
Location_base_pair Starts at 132378149 and ends at 132439690 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)

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)MBNL3   20564
Cards
Entrez_Gene (NCBI)MBNL3  55796  muscleblind like splicing regulator 3
AliasesCHCR; MBLX; MBLX39; MBXL
GeneCards (Weizmann)MBNL3
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chrX:132378149-132439690 [Contig_View]  MBNL3 [Vega]
TCGA cBioPortalMBNL3
AceView (NCBI)MBNL3
Genatlas (Paris)MBNL3
WikiGenes55796
SOURCE (Princeton)MBNL3
Genetics Home Reference (NIH)MBNL3
Genomic and cartography
GoldenPath hg38 (UCSC)MBNL3  -     chrX:132378149-132439690 -  Xq26.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBNL3  -     Xq26.2   [Description]    (hg19-Feb_2009)
EnsemblMBNL3 - Xq26.2 [CytoView hg19]  MBNL3 - Xq26.2 [CytoView hg38]
Mapping of homologs : NCBIMBNL3 [Mapview hg19]  MBNL3 [Mapview hg38]
OMIM300413   
Gene and transcription
Genbank (Entrez)AB077698 AB077699 AF467070 AF491305 AI633721
RefSeq transcript (Entrez)NM_001170701 NM_001170702 NM_001170703 NM_001170704 NM_018388 NM_133486
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBNL3
Cluster EST : UnigeneHs.596347 [ NCBI ]
CGAP (NCI)Hs.596347
Gene ExpressionMBNL3 [ NCBI-GEO ]   MBNL3 [ EBI - ARRAY_EXPRESS ]   MBNL3 [ SEEK ]   MBNL3 [ MEM ]
Gene Expression Viewer (FireBrowse)MBNL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55796
GTEX Portal (Tissue expression)MBNL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUK0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUK0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUK0
Splice isoforms : SwissVarQ9NUK0
PhosPhoSitePlusQ9NUK0
Domaine pattern : Prosite (Expaxy)ZF_C3H1 (PS50103)   
Domains : Interpro (EBI)Znf_CCCH   
Domain families : Pfam (Sanger)zf-CCCH (PF00642)   
Domain families : Pfam (NCBI)pfam00642   
Domain families : Smart (EMBL)ZnF_C3H1 (SM00356)  
Conserved Domain (NCBI)MBNL3
DMDM Disease mutations55796
Blocks (Seattle)MBNL3
SuperfamilyQ9NUK0
Peptide AtlasQ9NUK0
IPIIPI00020062   IPI00219790   IPI00219792   IPI00654643   IPI00644770   IPI00647219   IPI00647484   IPI00639990   IPI00552654   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUK0
IntAct (EBI)Q9NUK0
BioGRIDMBNL3
STRING (EMBL)MBNL3
ZODIACMBNL3
Ontologies - Pathways
QuickGOQ9NUK0
Ontology : AmiGORNA binding  protein binding  nucleus  cytoplasm  mRNA processing  multicellular organism development  RNA splicing  regulation of RNA splicing  negative regulation of myoblast differentiation  metal ion binding  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  cytoplasm  mRNA processing  multicellular organism development  RNA splicing  regulation of RNA splicing  negative regulation of myoblast differentiation  metal ion binding  
NDEx NetworkMBNL3
Atlas of Cancer Signalling NetworkMBNL3
Wikipedia pathwaysMBNL3
Orthology - Evolution
OrthoDB55796
Phylogenetic Trees/Animal Genes : TreeFamMBNL3
HOVERGENQ9NUK0
HOGENOMQ9NUK0
Homologs : HomoloGeneMBNL3
Homology/Alignments : Family Browser (UCSC)MBNL3
Gene fusions - Rearrangements
Tumor Fusion PortalMBNL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBNL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBNL3
dbVarMBNL3
ClinVarMBNL3
1000_GenomesMBNL3 
Exome Variant ServerMBNL3
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP55796
Genomic Variants (DGV)MBNL3 [DGVbeta]
DECIPHERMBNL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBNL3 
Mutations
ICGC Data PortalMBNL3 
TCGA Data PortalMBNL3 
Broad Tumor PortalMBNL3
OASIS PortalMBNL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBNL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBNL3
BioMutasearch MBNL3
DgiDB (Drug Gene Interaction Database)MBNL3
DoCM (Curated mutations)MBNL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBNL3 (select a term)
intoGenMBNL3
Cancer3DMBNL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300413   
Orphanet
DisGeNETMBNL3
MedgenMBNL3
Genetic Testing Registry MBNL3
NextProtQ9NUK0 [Medical]
TSGene55796
GENETestsMBNL3
Target ValidationMBNL3
Huge Navigator MBNL3 [HugePedia]
snp3D : Map Gene to Disease55796
BioCentury BCIQMBNL3
ClinGenMBNL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55796
Chemical/Pharm GKB GenePA134992936
Clinical trialMBNL3
Miscellaneous
canSAR (ICR)MBNL3 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBNL3
EVEXMBNL3
GoPubMedMBNL3
iHOPMBNL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:21:51 CET 2017

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