Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LRRC8D (leucine rich repeat containing 8 family member D)

Identity

Alias_namesLRRC5
leucine rich repeat containing 5
Alias_symbol (synonym)FLJ10470
Other alias
HGNC (Hugo) LRRC8D
LocusID (NCBI) 55144
Atlas_Id 41204
Location 1p22.2  [Link to chromosome band 1p22]
Location_base_pair Starts at 89821014 and ends at 89936430 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)
EIF4G3 (1p36.12) / LRRC8D (1p22.2)FAM69A (1p22.1) / LRRC8D (1p22.2)FRAS1 (4q21.21) / LRRC8D (1p22.2)
LRRC8D (1p22.2) / C1orf168 (1p32.2)STARD9 (15q15.2) / LRRC8D (1p22.2)FAM69A 1p22.1 / LRRC8D 1p22.2
LRRC8D 1p22.2 / C1orf168 1p32.2

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)LRRC8D   16992
Cards
Entrez_Gene (NCBI)LRRC8D  55144  leucine rich repeat containing 8 family member D
AliasesLRRC5
GeneCards (Weizmann)LRRC8D
Ensembl hg19 (Hinxton)ENSG00000171492 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171492 [Gene_View]  chr1:89821014-89936430 [Contig_View]  LRRC8D [Vega]
ICGC DataPortalENSG00000171492
TCGA cBioPortalLRRC8D
AceView (NCBI)LRRC8D
Genatlas (Paris)LRRC8D
WikiGenes55144
SOURCE (Princeton)LRRC8D
Genetics Home Reference (NIH)LRRC8D
Genomic and cartography
GoldenPath hg38 (UCSC)LRRC8D  -     chr1:89821014-89936430 +  1p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRC8D  -     1p22.2   [Description]    (hg19-Feb_2009)
EnsemblLRRC8D - 1p22.2 [CytoView hg19]  LRRC8D - 1p22.2 [CytoView hg38]
Mapping of homologs : NCBILRRC8D [Mapview hg19]  LRRC8D [Mapview hg38]
OMIM612890   
Gene and transcription
Genbank (Entrez)AI671275 AK001332 AK092238 AK222787 AL831880
RefSeq transcript (Entrez)NM_001134479 NM_018103
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRC8D
Cluster EST : UnigeneHs.482087 [ NCBI ]
CGAP (NCI)Hs.482087
Alternative Splicing GalleryENSG00000171492
Gene ExpressionLRRC8D [ NCBI-GEO ]   LRRC8D [ EBI - ARRAY_EXPRESS ]   LRRC8D [ SEEK ]   LRRC8D [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC8D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55144
GTEX Portal (Tissue expression)LRRC8D
Human Protein AtlasENSG00000171492-LRRC8D [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L1W4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L1W4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L1W4
Splice isoforms : SwissVarQ7L1W4
PhosPhoSitePlusQ7L1W4
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)LRRC8D
DMDM Disease mutations55144
Blocks (Seattle)LRRC8D
SuperfamilyQ7L1W4
Human Protein Atlas [tissue]ENSG00000171492-LRRC8D [tissue]
Peptide AtlasQ7L1W4
HPRD11287
IPIIPI00018213   IPI00641663   IPI00978856   IPI01015808   IPI00977584   IPI00478807   
Protein Interaction databases
DIP (DOE-UCLA)Q7L1W4
IntAct (EBI)Q7L1W4
FunCoupENSG00000171492
BioGRIDLRRC8D
STRING (EMBL)LRRC8D
ZODIACLRRC8D
Ontologies - Pathways
QuickGOQ7L1W4
Ontology : AmiGOvolume-sensitive anion channel activity  protein binding  cytoplasm  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  signal transduction  membrane  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  membrane  ion channel complex  regulation of anion transport  anion transmembrane transport  
NDEx NetworkLRRC8D
Atlas of Cancer Signalling NetworkLRRC8D
Wikipedia pathwaysLRRC8D
Orthology - Evolution
OrthoDB55144
GeneTree (enSembl)ENSG00000171492
Phylogenetic Trees/Animal Genes : TreeFamLRRC8D
HOVERGENQ7L1W4
HOGENOMQ7L1W4
Homologs : HomoloGeneLRRC8D
Homology/Alignments : Family Browser (UCSC)LRRC8D
Gene fusions - Rearrangements
Fusion : MitelmanEIF4G3/LRRC8D [1p36.12/1p22.2]  [t(1;1)(p22;p36)]  
Fusion : MitelmanFAM69A/LRRC8D [1p22.1/1p22.2]  [t(1;1)(p22;p22)]  
Fusion : MitelmanLRRC8D/C1orf168 [1p22.2/1p32.2]  [t(1;1)(p22;p32)]  
Fusion: TCGA_MDACCFAM69A 1p22.1 LRRC8D 1p22.2 HNSC
Fusion: TCGA_MDACCLRRC8D 1p22.2 C1orf168 1p32.2 BRCA
Tumor Fusion PortalLRRC8D
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC8D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC8D
dbVarLRRC8D
ClinVarLRRC8D
1000_GenomesLRRC8D 
Exome Variant ServerLRRC8D
ExAC (Exome Aggregation Consortium)ENSG00000171492
GNOMAD BrowserENSG00000171492
Genetic variants : HAPMAP55144
Genomic Variants (DGV)LRRC8D [DGVbeta]
DECIPHERLRRC8D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRC8D 
Mutations
ICGC Data PortalLRRC8D 
TCGA Data PortalLRRC8D 
Broad Tumor PortalLRRC8D
OASIS PortalLRRC8D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC8D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC8D
BioMutasearch LRRC8D
DgiDB (Drug Gene Interaction Database)LRRC8D
DoCM (Curated mutations)LRRC8D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC8D (select a term)
intoGenLRRC8D
Cancer3DLRRC8D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612890   
Orphanet
DisGeNETLRRC8D
MedgenLRRC8D
Genetic Testing Registry LRRC8D
NextProtQ7L1W4 [Medical]
TSGene55144
GENETestsLRRC8D
Target ValidationLRRC8D
Huge Navigator LRRC8D [HugePedia]
snp3D : Map Gene to Disease55144
BioCentury BCIQLRRC8D
ClinGenLRRC8D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55144
Chemical/Pharm GKB GenePA30464
Clinical trialLRRC8D
Miscellaneous
canSAR (ICR)LRRC8D (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC8D
EVEXLRRC8D
GoPubMedLRRC8D
iHOPLRRC8D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:20:59 CET 2017

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