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MBNL1 (muscleblind like splicing regulator 1)

Identity

Alias_namesMBNL
muscleblind (Drosophila)-like
muscleblind-like (Drosophila)
muscleblind-like splicing regulator 1
Alias_symbol (synonym)KIAA0428
EXP42
EXP40
EXP35
EXP
Other alias
HGNC (Hugo) MBNL1
LocusID (NCBI) 4154
Atlas_Id 44023
Location 3q25.1  [Link to chromosome band 3q25]
Location_base_pair Starts at 152268468 and ends at 152465780 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP15 (2q22.2) / MBNL1 (3q25.1)BCL6 (3q27.3) / MBNL1 (3q25.1)FOS (14q24.3) / MBNL1 (3q25.1)
FOXN3 (14q31.3) / MBNL1 (3q25.1)GK5 (3q23) / MBNL1 (3q25.1)MBNL1 (3q25.1) / BCL6 (3q27.3)
MBNL1 (3q25.1) / CALCOCO1 (12q13.13)MBNL1 (3q25.1) / DCUN1D1 (3q26.33)MBNL1 (3q25.1) / DZIP1L (3q22.3)
MBNL1 (3q25.1) / HIPK3 (11p13)MBNL1 (3q25.1) / LMO2 (11p13)MBNL1 (3q25.1) / MBNL1 (3q25.1)
MBNL1 (3q25.1) / NAALADL2 (3q26.31)MBNL1 (3q25.1) / PAX5 (9p13.2)MBNL1 (3q25.1) / RAF1 (3p25.2)
MBNL1 (3q25.1) / SGSM3 (22q13.1)GK5 3q23 / MBNL1 3q25.1MBNL1 3q25.1 / DCUN1D1 3q26.33
MBNL1 3q25.1 / DZIP1L 3q22.3MBNL1 3q25.1 / NAALADL2 3q26.31MBNL1 3q25.1 / SGSM3 22q13.1

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;3)(q25;q27) MBNL1/BCL6


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone: Vascular Tumors


External links

Nomenclature
HGNC (Hugo)MBNL1   6923
Cards
Entrez_Gene (NCBI)MBNL1  4154  muscleblind like splicing regulator 1
AliasesEXP; MBNL
GeneCards (Weizmann)MBNL1
Ensembl hg19 (Hinxton)ENSG00000152601 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152601 [Gene_View]  chr3:152268468-152465780 [Contig_View]  MBNL1 [Vega]
ICGC DataPortalENSG00000152601
TCGA cBioPortalMBNL1
AceView (NCBI)MBNL1
Genatlas (Paris)MBNL1
WikiGenes4154
SOURCE (Princeton)MBNL1
Genetics Home Reference (NIH)MBNL1
Genomic and cartography
GoldenPath hg38 (UCSC)MBNL1  -     chr3:152268468-152465780 +  3q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBNL1  -     3q25.1   [Description]    (hg19-Feb_2009)
EnsemblMBNL1 - 3q25.1 [CytoView hg19]  MBNL1 - 3q25.1 [CytoView hg38]
Mapping of homologs : NCBIMBNL1 [Mapview hg19]  MBNL1 [Mapview hg38]
OMIM606516   
Gene and transcription
Genbank (Entrez)AB007888 AF255334 AF395876 AF401998 AF497718
RefSeq transcript (Entrez)NM_001314057 NM_021038 NM_207292 NM_207293 NM_207294 NM_207295 NM_207296 NM_207297
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBNL1
Cluster EST : UnigeneHs.725347 [ NCBI ]
CGAP (NCI)Hs.725347
Alternative Splicing GalleryENSG00000152601
Gene ExpressionMBNL1 [ NCBI-GEO ]   MBNL1 [ EBI - ARRAY_EXPRESS ]   MBNL1 [ SEEK ]   MBNL1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBNL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4154
GTEX Portal (Tissue expression)MBNL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR56   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR56  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR56
Splice isoforms : SwissVarQ9NR56
PhosPhoSitePlusQ9NR56
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)MBNL1
DMDM Disease mutations4154
Blocks (Seattle)MBNL1
PDB (SRS)3D2N    3D2Q    3D2S   
PDB (PDBSum)3D2N    3D2Q    3D2S   
PDB (IMB)3D2N    3D2Q    3D2S   
PDB (RSDB)3D2N    3D2Q    3D2S   
Structural Biology KnowledgeBase3D2N    3D2Q    3D2S   
SCOP (Structural Classification of Proteins)3D2N    3D2Q    3D2S   
CATH (Classification of proteins structures)3D2N    3D2Q    3D2S   
SuperfamilyQ9NR56
Human Protein AtlasENSG00000152601
Peptide AtlasQ9NR56
HPRD07355
IPIIPI00021692   IPI00218263   IPI00410205   IPI00384261   IPI00946701   IPI00395357   IPI00945690   IPI00178116   IPI00410279   IPI00946350   IPI00946481   IPI00946978   IPI00984486   IPI00946942   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR56
IntAct (EBI)Q9NR56
FunCoupENSG00000152601
BioGRIDMBNL1
STRING (EMBL)MBNL1
ZODIACMBNL1
Ontologies - Pathways
QuickGOQ9NR56
Ontology : AmiGOregulatory region RNA binding  in utero embryonic development  RNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  centrosome  cytosol  mRNA processing  nervous system development  RNA splicing  cytoplasmic stress granule  embryonic limb morphogenesis  regulation of RNA splicing  myoblast differentiation  metal ion binding  
Ontology : EGO-EBIregulatory region RNA binding  in utero embryonic development  RNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  centrosome  cytosol  mRNA processing  nervous system development  RNA splicing  cytoplasmic stress granule  embryonic limb morphogenesis  regulation of RNA splicing  myoblast differentiation  metal ion binding  
NDEx NetworkMBNL1
Atlas of Cancer Signalling NetworkMBNL1
Wikipedia pathwaysMBNL1
Orthology - Evolution
OrthoDB4154
GeneTree (enSembl)ENSG00000152601
Phylogenetic Trees/Animal Genes : TreeFamMBNL1
HOVERGENQ9NR56
HOGENOMQ9NR56
Homologs : HomoloGeneMBNL1
Homology/Alignments : Family Browser (UCSC)MBNL1
Gene fusions - Rearrangements
Fusion : MitelmanBCL6/MBNL1 [3q27.3/3q25.1]  [inv(3)(q25q27)]  
Fusion : MitelmanGK5/MBNL1 [3q23/3q25.1]  [t(3;3)(q23;q25)]  
Fusion : MitelmanMBNL1/BCL6 [3q25.1/3q27.3]  [t(3;3)(q25;q27)]  
Fusion : MitelmanMBNL1/DCUN1D1 [3q25.1/3q26.33]  [t(3;3)(q25;q27)]  
Fusion : MitelmanMBNL1/DZIP1L [3q25.1/3q22.3]  [t(3;3)(q22;q25)]  
Fusion : MitelmanMBNL1/NAALADL2 [3q25.1/3q26.31]  [t(3;3)(q25;q26)]  
Fusion : MitelmanMBNL1/SGSM3 [3q25.1/22q13.1]  [t(3;22)(q25;q13)]  
Fusion: TCGAGK5 3q23 MBNL1 3q25.1 BRCA
Fusion: TCGAMBNL1 3q25.1 DCUN1D1 3q26.33 LUSC
Fusion: TCGAMBNL1 3q25.1 DZIP1L 3q22.3 BRCA
Fusion: TCGAMBNL1 3q25.1 NAALADL2 3q26.31 BRCA
Fusion: TCGAMBNL1 3q25.1 SGSM3 22q13.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBNL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBNL1
dbVarMBNL1
ClinVarMBNL1
1000_GenomesMBNL1 
Exome Variant ServerMBNL1
ExAC (Exome Aggregation Consortium)MBNL1 (select the gene name)
Genetic variants : HAPMAP4154
Genomic Variants (DGV)MBNL1 [DGVbeta]
DECIPHERMBNL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBNL1 
Mutations
ICGC Data PortalMBNL1 
TCGA Data PortalMBNL1 
Broad Tumor PortalMBNL1
OASIS PortalMBNL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBNL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBNL1
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 MBNL1
DgiDB (Drug Gene Interaction Database)MBNL1
DoCM (Curated mutations)MBNL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBNL1 (select a term)
intoGenMBNL1
Cancer3DMBNL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606516   
Orphanet
MedgenMBNL1
Genetic Testing Registry MBNL1
NextProtQ9NR56 [Medical]
TSGene4154
GENETestsMBNL1
Target ValidationMBNL1
Huge Navigator MBNL1 [HugePedia]
snp3D : Map Gene to Disease4154
BioCentury BCIQMBNL1
ClinGenMBNL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4154
Chemical/Pharm GKB GenePA30666
Clinical trialMBNL1
Miscellaneous
canSAR (ICR)MBNL1 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBNL1
EVEXMBNL1
GoPubMedMBNL1
iHOPMBNL1
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 : Tue Aug 1 17:06:27 CEST 2017

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