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LRRC8E (leucine rich repeat containing 8 family member E)

Identity

Alias_symbol (synonym)FLJ23420
Other alias-
HGNC (Hugo) LRRC8E
LocusID (NCBI) 80131
Atlas_Id 68659
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7888505 and ends at 7902023 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRRC8E (19p13.2) / EVI5L (19p13.2)TJP3 (19p13.3) / LRRC8E (19p13.2)

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

 


External links

Nomenclature
HGNC (Hugo)LRRC8E   26272
Cards
Entrez_Gene (NCBI)LRRC8E  80131  leucine rich repeat containing 8 family member E
Aliases
GeneCards (Weizmann)LRRC8E
Ensembl hg19 (Hinxton)ENSG00000171017 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171017 [Gene_View]  chr19:7888505-7902023 [Contig_View]  LRRC8E [Vega]
ICGC DataPortalENSG00000171017
TCGA cBioPortalLRRC8E
AceView (NCBI)LRRC8E
Genatlas (Paris)LRRC8E
WikiGenes80131
SOURCE (Princeton)LRRC8E
Genetics Home Reference (NIH)LRRC8E
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8E  -     chr19:7888505-7902023 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8E  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblLRRC8E - 19p13.2 [CytoView hg19]  LRRC8E - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBILRRC8E [Mapview hg19]  LRRC8E [Mapview hg38]
OMIM612891   
Gene and transcription
Genbank (Entrez)AK027073 AK091134 AL834474 AM393515 BC022216
RefSeq transcript (Entrez)NM_001268284 NM_001268285 NM_025061
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRC8E
Cluster EST : UnigeneHs.501511 [ NCBI ]
CGAP (NCI)Hs.501511
Alternative Splicing GalleryENSG00000171017
Gene ExpressionLRRC8E [ NCBI-GEO ]   LRRC8E [ EBI - ARRAY_EXPRESS ]   LRRC8E [ SEEK ]   LRRC8E [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80131
GTEX Portal (Tissue expression)LRRC8E
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NSJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NSJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NSJ5
Splice isoforms : SwissVarQ6NSJ5
PhosPhoSitePlusQ6NSJ5
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    LRRC8_Pannexin-like   
Domain families : Pfam (Sanger)LRR_8 (PF13855)    Pannexin_like (PF12534)   
Domain families : Pfam (NCBI)pfam13855    pfam12534   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  
Conserved Domain (NCBI)LRRC8E
DMDM Disease mutations80131
Blocks (Seattle)LRRC8E
SuperfamilyQ6NSJ5
Human Protein AtlasENSG00000171017
Peptide AtlasQ6NSJ5
HPRD08670
IPIIPI00419535   IPI00445773   
Protein Interaction databases
DIP (DOE-UCLA)Q6NSJ5
IntAct (EBI)Q6NSJ5
FunCoupENSG00000171017
BioGRIDLRRC8E
STRING (EMBL)LRRC8E
ZODIACLRRC8E
Ontologies - Pathways
QuickGOQ6NSJ5
Ontology : AmiGOvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  signal transduction  ion channel complex  regulation of anion transport  anion transmembrane transport  
Ontology : EGO-EBIvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  signal transduction  ion channel complex  regulation of anion transport  anion transmembrane transport  
NDEx NetworkLRRC8E
Atlas of Cancer Signalling NetworkLRRC8E
Wikipedia pathwaysLRRC8E
Orthology - Evolution
OrthoDB80131
GeneTree (enSembl)ENSG00000171017
Phylogenetic Trees/Animal Genes : TreeFamLRRC8E
HOVERGENQ6NSJ5
HOGENOMQ6NSJ5
Homologs : HomoloGeneLRRC8E
Homology/Alignments : Family Browser (UCSC)LRRC8E
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8E
dbVarLRRC8E
ClinVarLRRC8E
1000_GenomesLRRC8E 
Exome Variant ServerLRRC8E
ExAC (Exome Aggregation Consortium)LRRC8E (select the gene name)
Genetic variants : HAPMAP80131
Genomic Variants (DGV)LRRC8E [DGVbeta]
DECIPHERLRRC8E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRC8E 
Mutations
ICGC Data PortalLRRC8E 
TCGA Data PortalLRRC8E 
Broad Tumor PortalLRRC8E
OASIS PortalLRRC8E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC8E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC8E
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRRC8E
DgiDB (Drug Gene Interaction Database)LRRC8E
DoCM (Curated mutations)LRRC8E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8E (select a term)
intoGenLRRC8E
Cancer3DLRRC8E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612891   
Orphanet
MedgenLRRC8E
Genetic Testing Registry LRRC8E
NextProtQ6NSJ5 [Medical]
TSGene80131
GENETestsLRRC8E
Target ValidationLRRC8E
Huge Navigator LRRC8E [HugePedia]
snp3D : Map Gene to Disease80131
BioCentury BCIQLRRC8E
ClinGenLRRC8E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80131
Chemical/Pharm GKB GenePA142671537
Clinical trialLRRC8E
Miscellaneous
canSAR (ICR)LRRC8E (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC8E
EVEXLRRC8E
GoPubMedLRRC8E
iHOPLRRC8E
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 13:26:36 CEST 2017

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