Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MLC1 (megalencephalic leukoencephalopathy with subcortical cysts 1)

Identity

Alias_symbol (synonym)MLC
KIAA0027
LVM
VL
Other alias
HGNC (Hugo) MLC1
LocusID (NCBI) 23209
Atlas_Id 70337
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50059391 and ends at 50085929 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		BRD1 (22q13.33) / MLC1 (22q13.33)PRDX5 (11q13.1) / MLC1 (22q13.33)

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)MLC1   17082
Cards
Entrez_Gene (NCBI)MLC1  23209  megalencephalic leukoencephalopathy with subcortical cysts 1
AliasesLVM; MLC; VL
GeneCards (Weizmann)MLC1
Ensembl hg19 (Hinxton)ENSG00000100427 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100427 [Gene_View]  chr22:50059391-50085929 [Contig_View]  MLC1 [Vega]
ICGC DataPortalENSG00000100427
TCGA cBioPortalMLC1
AceView (NCBI)MLC1
Genatlas (Paris)MLC1
WikiGenes23209
SOURCE (Princeton)MLC1
Genetics Home Reference (NIH)MLC1
Genomic and cartography
GoldenPath hg38 (UCSC)MLC1  -     chr22:50059391-50085929 -  22q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLC1  -     22q13.33   [Description]    (hg19-Feb_2009)
EnsemblMLC1 - 22q13.33 [CytoView hg19]  MLC1 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBIMLC1 [Mapview hg19]  MLC1 [Mapview hg38]
OMIM604004   605908   
Gene and transcription
Genbank (Entrez)AF319633 AK124264 AK294048 AK295106 AK297341
RefSeq transcript (Entrez)NM_015166 NM_139202
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLC1
Cluster EST : UnigeneHs.517729 [ NCBI ]
CGAP (NCI)Hs.517729
Alternative Splicing GalleryENSG00000100427
Gene ExpressionMLC1 [ NCBI-GEO ]   MLC1 [ EBI - ARRAY_EXPRESS ]   MLC1 [ SEEK ]   MLC1 [ MEM ]
Gene Expression Viewer (FireBrowse)MLC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23209
GTEX Portal (Tissue expression)MLC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15049   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15049  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15049
Splice isoforms : SwissVarQ15049
PhosPhoSitePlusQ15049
Domains : Interpro (EBI)Membrane_MLC1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain structure : Prodom (Prabi Lyon)PD492528 (PD492528)   
Conserved Domain (NCBI)MLC1
DMDM Disease mutations23209
Blocks (Seattle)MLC1
SuperfamilyQ15049
Human Protein AtlasENSG00000100427
Peptide AtlasQ15049
HPRD05800
IPIIPI00014240   IPI01013055   IPI01013946   IPI00793010   IPI00922225   
Protein Interaction databases
DIP (DOE-UCLA)Q15049
IntAct (EBI)Q15049
FunCoupENSG00000100427
BioGRIDMLC1
STRING (EMBL)MLC1
ZODIACMLC1
Ontologies - Pathways
QuickGOQ15049
Ontology : AmiGOtransporter activity  protein binding  cytoplasm  lysosome  endosome  early endosome  endoplasmic reticulum  plasma membrane  caveola  cell-cell junction  transport  ion transport  protein transporter activity  protein transport  integral component of membrane  vesicle-mediated transport  basolateral plasma membrane  apical plasma membrane  clathrin-coated vesicle  cytoplasmic vesicle  positive regulation of intracellular transport  protein complex binding  membrane raft  regulation of response to osmotic stress  perinuclear region of cytoplasm  protein oligomerization  recycling endosome  cellular response to cholesterol  caveolin-mediated endocytosis  
Ontology : EGO-EBItransporter activity  protein binding  cytoplasm  lysosome  endosome  early endosome  endoplasmic reticulum  plasma membrane  caveola  cell-cell junction  transport  ion transport  protein transporter activity  protein transport  integral component of membrane  vesicle-mediated transport  basolateral plasma membrane  apical plasma membrane  clathrin-coated vesicle  cytoplasmic vesicle  positive regulation of intracellular transport  protein complex binding  membrane raft  regulation of response to osmotic stress  perinuclear region of cytoplasm  protein oligomerization  recycling endosome  cellular response to cholesterol  caveolin-mediated endocytosis  
NDEx NetworkMLC1
Atlas of Cancer Signalling NetworkMLC1
Wikipedia pathwaysMLC1
Orthology - Evolution
OrthoDB23209
GeneTree (enSembl)ENSG00000100427
Phylogenetic Trees/Animal Genes : TreeFamMLC1
HOVERGENQ15049
HOGENOMQ15049
Homologs : HomoloGeneMLC1
Homology/Alignments : Family Browser (UCSC)MLC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLC1
dbVarMLC1
ClinVarMLC1
1000_GenomesMLC1 
Exome Variant ServerMLC1
ExAC (Exome Aggregation Consortium)MLC1 (select the gene name)
Genetic variants : HAPMAP23209
Genomic Variants (DGV)MLC1 [DGVbeta]
DECIPHERMLC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLC1 
Mutations
ICGC Data PortalMLC1 
TCGA Data PortalMLC1 
Broad Tumor PortalMLC1
OASIS PortalMLC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMLC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMLC1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch MLC1
DgiDB (Drug Gene Interaction Database)MLC1
DoCM (Curated mutations)MLC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLC1 (select a term)
intoGenMLC1
Cancer3DMLC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604004    605908   
Orphanet3715   
Medgen|TD>MLC1
Genetic Testing Registry MLC1
NextProtQ15049 [Medical]
TSGene23209
GENETestsMLC1
Target ValidationMLC1
Huge Navigator MLC1 [HugePedia]
snp3D : Map Gene to Disease23209
BioCentury BCIQMLC1
ClinGenMLC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23209
Chemical/Pharm GKB GenePA38199
Clinical trialMLC1
Miscellaneous
canSAR (ICR)MLC1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLC1
EVEXMLC1
GoPubMedMLC1
iHOPMLC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:30:55 CEST 2017
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