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MLXIPL (MLX interacting protein like)

Identity

Alias_namesWBSCR14
Williams Beuren syndrome chromosome region 14
MLX interacting protein-like
Alias_symbol (synonym)WS-bHLH
MIO
CHREBP
MONDOB
bHLHd14
Other aliasMLX
HGNC (Hugo) MLXIPL
LocusID (NCBI) 51085
Atlas_Id 51326
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73593194 and ends at 73624540 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)
NRF1 (7q32.2) / MLXIPL (7q11.23)PUSL1 (1p36.33) / MLXIPL (7q11.23)NRF1 7q32.2 / MLXIPL 7q11.23

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;7)(q11;q32) NRF1/MLXIPL


External links

Nomenclature
HGNC (Hugo)MLXIPL   12744
Cards
Entrez_Gene (NCBI)MLXIPL  51085  MLX interacting protein like
AliasesCHREBP; MIO; MLX; MONDOB; 
WBSCR14; WS-bHLH; bHLHd14
GeneCards (Weizmann)MLXIPL
Ensembl hg19 (Hinxton)ENSG00000009950 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000009950 [Gene_View]  ENSG00000009950 [Sequence]  chr7:73593194-73624540 [Contig_View]  MLXIPL [Vega]
ICGC DataPortalENSG00000009950
TCGA cBioPortalMLXIPL
AceView (NCBI)MLXIPL
Genatlas (Paris)MLXIPL
WikiGenes51085
SOURCE (Princeton)MLXIPL
Genetics Home Reference (NIH)MLXIPL
Genomic and cartography
GoldenPath hg38 (UCSC)MLXIPL  -     chr7:73593194-73624540 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLXIPL  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblMLXIPL - 7q11.23 [CytoView hg19]  MLXIPL - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIMLXIPL [Mapview hg19]  MLXIPL [Mapview hg38]
OMIM194050   605678   
Gene and transcription
Genbank (Entrez)AF156603 AF245470 AF245471 AF245472 AF245473
RefSeq transcript (Entrez)NM_032951 NM_032952 NM_032953 NM_032954 NM_032994
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLXIPL
Cluster EST : UnigeneHs.647055 [ NCBI ]
CGAP (NCI)Hs.647055
Alternative Splicing GalleryENSG00000009950
Gene ExpressionMLXIPL [ NCBI-GEO ]   MLXIPL [ EBI - ARRAY_EXPRESS ]   MLXIPL [ SEEK ]   MLXIPL [ MEM ]
Gene Expression Viewer (FireBrowse)MLXIPL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51085
GTEX Portal (Tissue expression)MLXIPL
Human Protein AtlasENSG00000009950-MLXIPL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NP71   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NP71  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NP71
Splice isoforms : SwissVarQ9NP71
PhosPhoSitePlusQ9NP71
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)MLXIPL
DMDM Disease mutations51085
Blocks (Seattle)MLXIPL
SuperfamilyQ9NP71
Human Protein Atlas [tissue]ENSG00000009950-MLXIPL [tissue]
Peptide AtlasQ9NP71
HPRD12033
IPIIPI00016812   IPI00215985   IPI00215986   IPI00215988   IPI00215989   IPI00182467   IPI00927033   IPI00924583   
Protein Interaction databases
DIP (DOE-UCLA)Q9NP71
IntAct (EBI)Q9NP71
FunCoupENSG00000009950
BioGRIDMLXIPL
STRING (EMBL)MLXIPL
ZODIACMLXIPL
Ontologies - Pathways
QuickGOQ9NP71
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding  DNA binding  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  nucleus  nucleus  nucleus  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transcription factor binding  positive regulation of cell proliferation  anatomical structure morphogenesis  glucose mediated signaling pathway  negative regulation of peptidyl-serine phosphorylation  carbohydrate response element binding  intracellular signal transduction  glucose homeostasis  protein homodimerization activity  positive regulation of fatty acid biosynthetic process  positive regulation of glycolytic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of lipid biosynthetic process  protein heterodimerization activity  fatty acid homeostasis  triglyceride homeostasis  negative regulation of cell cycle arrest  negative regulation of oxidative phosphorylation  energy homeostasis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding  DNA binding  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  nucleus  nucleus  nucleus  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transcription factor binding  positive regulation of cell proliferation  anatomical structure morphogenesis  glucose mediated signaling pathway  negative regulation of peptidyl-serine phosphorylation  carbohydrate response element binding  intracellular signal transduction  glucose homeostasis  protein homodimerization activity  positive regulation of fatty acid biosynthetic process  positive regulation of glycolytic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of lipid biosynthetic process  protein heterodimerization activity  fatty acid homeostasis  triglyceride homeostasis  negative regulation of cell cycle arrest  negative regulation of oxidative phosphorylation  energy homeostasis  
Pathways : KEGGNon-alcoholic fatty liver disease (NAFLD)   
NDEx NetworkMLXIPL
Atlas of Cancer Signalling NetworkMLXIPL
Wikipedia pathwaysMLXIPL
Orthology - Evolution
OrthoDB51085
GeneTree (enSembl)ENSG00000009950
Phylogenetic Trees/Animal Genes : TreeFamMLXIPL
HOVERGENQ9NP71
HOGENOMQ9NP71
Homologs : HomoloGeneMLXIPL
Homology/Alignments : Family Browser (UCSC)MLXIPL
Gene fusions - Rearrangements
Fusion : MitelmanNRF1/MLXIPL [7q32.2/7q11.23]  [t(7;7)(q11;q32)]  
Fusion PortalNRF1 7q32.2 MLXIPL 7q11.23 PRAD
Fusion : QuiverMLXIPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLXIPL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLXIPL
dbVarMLXIPL
ClinVarMLXIPL
1000_GenomesMLXIPL 
Exome Variant ServerMLXIPL
ExAC (Exome Aggregation Consortium)ENSG00000009950
GNOMAD BrowserENSG00000009950
Varsome BrowserMLXIPL
Genetic variants : HAPMAP51085
Genomic Variants (DGV)MLXIPL [DGVbeta]
DECIPHERMLXIPL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLXIPL 
Mutations
ICGC Data PortalMLXIPL 
TCGA Data PortalMLXIPL 
Broad Tumor PortalMLXIPL
OASIS PortalMLXIPL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMLXIPL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMLXIPL
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 MLXIPL
DgiDB (Drug Gene Interaction Database)MLXIPL
DoCM (Curated mutations)MLXIPL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLXIPL (select a term)
intoGenMLXIPL
Cancer3DMLXIPL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194050    605678   
Orphanet
DisGeNETMLXIPL
MedgenMLXIPL
Genetic Testing Registry MLXIPL
NextProtQ9NP71 [Medical]
TSGene51085
GENETestsMLXIPL
Target ValidationMLXIPL
Huge Navigator MLXIPL [HugePedia]
snp3D : Map Gene to Disease51085
BioCentury BCIQMLXIPL
ClinGenMLXIPL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51085
Chemical/Pharm GKB GenePA37353
Clinical trialMLXIPL
Miscellaneous
canSAR (ICR)MLXIPL (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLXIPL
EVEXMLXIPL
GoPubMedMLXIPL
iHOPMLXIPL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:38:18 CEST 2018

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