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LLGL1 (LLGL1, scribble cell polarity complex component)

Identity

Alias_namesDLG4
LLGL
HUGL
HUGL-1
lethal giant larvae homolog 1 (Drosophila)
lethal giant larvae homolog 1, scribble cell polarity complex component
Alias_symbol (synonym)Lgl1
Mgl1
Other aliasHUGL1
HGNC (Hugo) LLGL1
LocusID (NCBI) 3996
Atlas_Id 41162
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 18225622 and ends at 18244874 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)
LLGL1 (17p11.2) / ALKBH5 (17p11.2)LLGL1 (17p11.2) / DRG2 (17p11.2)LLGL1 17p11.2 / ALKBH5 17p11.2

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 ]
  LLGL1/ALKBH5 (17p11)

External links

Nomenclature
HGNC (Hugo)LLGL1   6628
Cards
Entrez_Gene (NCBI)LLGL1  3996  LLGL1, scribble cell polarity complex component
AliasesDLG4; HUGL; HUGL-1; HUGL1; 
LLGL; Lgl1; Mgl1
GeneCards (Weizmann)LLGL1
Ensembl hg19 (Hinxton)ENSG00000131899 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131899 [Gene_View]  ENSG00000131899 [Sequence]  chr17:18225622-18244874 [Contig_View]  LLGL1 [Vega]
ICGC DataPortalENSG00000131899
TCGA cBioPortalLLGL1
AceView (NCBI)LLGL1
Genatlas (Paris)LLGL1
WikiGenes3996
SOURCE (Princeton)LLGL1
Genetics Home Reference (NIH)LLGL1
Genomic and cartography
GoldenPath hg38 (UCSC)LLGL1  -     chr17:18225622-18244874 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LLGL1  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblLLGL1 - 17p11.2 [CytoView hg19]  LLGL1 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBILLGL1 [Mapview hg19]  LLGL1 [Mapview hg38]
OMIM600966   
Gene and transcription
Genbank (Entrez)BC028037 BC028214 BC051466 BC151838 BQ923585
RefSeq transcript (Entrez)NM_004140
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LLGL1
Cluster EST : UnigeneHs.513983 [ NCBI ]
CGAP (NCI)Hs.513983
Alternative Splicing GalleryENSG00000131899
Gene ExpressionLLGL1 [ NCBI-GEO ]   LLGL1 [ EBI - ARRAY_EXPRESS ]   LLGL1 [ SEEK ]   LLGL1 [ MEM ]
Gene Expression Viewer (FireBrowse)LLGL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3996
GTEX Portal (Tissue expression)LLGL1
Human Protein AtlasENSG00000131899-LLGL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15334   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15334  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15334
Splice isoforms : SwissVarQ15334
PhosPhoSitePlusQ15334
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)   
Domains : Interpro (EBI)Lethal2_giant    LLGL2    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)LLGL (PF08366)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08366    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)LLGL1
DMDM Disease mutations3996
Blocks (Seattle)LLGL1
SuperfamilyQ15334
Human Protein Atlas [tissue]ENSG00000131899-LLGL1 [tissue]
Peptide AtlasQ15334
HPRD02982
IPIIPI00854741   
Protein Interaction databases
DIP (DOE-UCLA)Q15334
IntAct (EBI)Q15334
FunCoupENSG00000131899
BioGRIDLLGL1
STRING (EMBL)LLGL1
ZODIACLLGL1
Ontologies - Pathways
QuickGOQ15334
Ontology : AmiGOGolgi cis cisterna  GTPase activator activity  GTPase activator activity  structural molecule activity  protein binding  cytoplasm  cytoplasm  cytoskeleton  plasma membrane  exocytosis  Golgi to plasma membrane transport  axonogenesis  Rab GTPase binding  protein kinase binding  axon  cortical actin cytoskeleton  cortical actin cytoskeleton  cortical actin cytoskeleton organization  cortical actin cytoskeleton organization  early endosome membrane  trans-Golgi network membrane  regulation of establishment or maintenance of cell polarity  positive regulation of GTPase activity  establishment of spindle orientation  protein-containing complex assembly  
Ontology : EGO-EBIGolgi cis cisterna  GTPase activator activity  GTPase activator activity  structural molecule activity  protein binding  cytoplasm  cytoplasm  cytoskeleton  plasma membrane  exocytosis  Golgi to plasma membrane transport  axonogenesis  Rab GTPase binding  protein kinase binding  axon  cortical actin cytoskeleton  cortical actin cytoskeleton  cortical actin cytoskeleton organization  cortical actin cytoskeleton organization  early endosome membrane  trans-Golgi network membrane  regulation of establishment or maintenance of cell polarity  positive regulation of GTPase activity  establishment of spindle orientation  protein-containing complex assembly  
Pathways : KEGGHippo signaling pathway    Tight junction   
NDEx NetworkLLGL1
Atlas of Cancer Signalling NetworkLLGL1
Wikipedia pathwaysLLGL1
Orthology - Evolution
OrthoDB3996
GeneTree (enSembl)ENSG00000131899
Phylogenetic Trees/Animal Genes : TreeFamLLGL1
HOVERGENQ15334
HOGENOMQ15334
Homologs : HomoloGeneLLGL1
Homology/Alignments : Family Browser (UCSC)LLGL1
Gene fusions - Rearrangements
Fusion : MitelmanLLGL1/ALKBH5 [17p11.2/17p11.2]  
Fusion PortalLLGL1 17p11.2 ALKBH5 17p11.2 THCA
Fusion : QuiverLLGL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLLGL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LLGL1
dbVarLLGL1
ClinVarLLGL1
1000_GenomesLLGL1 
Exome Variant ServerLLGL1
ExAC (Exome Aggregation Consortium)ENSG00000131899
GNOMAD BrowserENSG00000131899
Varsome BrowserLLGL1
Genetic variants : HAPMAP3996
Genomic Variants (DGV)LLGL1 [DGVbeta]
DECIPHERLLGL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLLGL1 
Mutations
ICGC Data PortalLLGL1 
TCGA Data PortalLLGL1 
Broad Tumor PortalLLGL1
OASIS PortalLLGL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLLGL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLLGL1
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 LLGL1
DgiDB (Drug Gene Interaction Database)LLGL1
DoCM (Curated mutations)LLGL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LLGL1 (select a term)
intoGenLLGL1
Cancer3DLLGL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600966   
Orphanet
DisGeNETLLGL1
MedgenLLGL1
Genetic Testing Registry LLGL1
NextProtQ15334 [Medical]
TSGene3996
GENETestsLLGL1
Target ValidationLLGL1
Huge Navigator LLGL1 [HugePedia]
snp3D : Map Gene to Disease3996
BioCentury BCIQLLGL1
ClinGenLLGL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3996
Chemical/Pharm GKB GenePA30396
Clinical trialLLGL1
Miscellaneous
canSAR (ICR)LLGL1 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLLGL1
EVEXLLGL1
GoPubMedLLGL1
iHOPLLGL1
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 Nov 6 11:16:53 CET 2018
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