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LRBA (LPS responsive beige-like anchor protein)

Identity

Alias_namesCDC4L
LPS-responsive vesicle trafficking
Alias_symbol (synonym)BGL
LAB300
LBA
Other aliasCVID8
HGNC (Hugo) LRBA
LocusID (NCBI) 987
Atlas_Id 54428
Location 4q31.3  [Link to chromosome band 4q31]
Location_base_pair Starts at 150264659 and ends at 151015497 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)
ATXN1 (6p22.3) / LRBA (4q31.3)CEP112 (17q24.1) / LRBA (4q31.3)ENC1 (5q13.3) / LRBA (4q31.3)
FNIP2 (4q32.1) / LRBA (4q31.3)GLRB (4q32.1) / LRBA (4q31.3)HERC6 (4q22.1) / LRBA (4q31.3)
IKZF1 (7p12.2) / LRBA (4q31.3)LRBA (4q31.3) / CASP12 (11q22.3)LRBA (4q31.3) / CHMP1A (16q24.3)
LRBA (4q31.3) / DRD3 (3q13.31)LRBA (4q31.3) / ESF1 (20p12.1)LRBA (4q31.3) / GRIK3 (1p34.3)
LRBA (4q31.3) / HFE2 (1q21.1)LRBA (4q31.3) / HTR1E (6q14.3)LRBA (4q31.3) / KTN1 (14q22.3)
LRBA (4q31.3) / LRBA (4q31.3)LRBA (4q31.3) / NFKB1 (4q24)LRBA (4q31.3) / PPARGC1A (4p15.2)
LRBA (4q31.3) / RXFP1 (4q32.1)LRBA (4q31.3) / SH3D19 (4q31.3)PCSK5 (9q21.13) / LRBA (4q31.3)
PRMT9 (4q31.23) / LRBA (4q31.3)RPS21 (20q13.33) / LRBA (4q31.3)RXRA (9q34.2) / LRBA (4q31.3)
SAMD4A (14q22.2) / LRBA (4q31.3)SNHG3 (1p35.3) / LRBA (4q31.3)TULP3 (12p13.33) / LRBA (4q31.3)
UQCC1 (20q11.22) / LRBA (4q31.3)FNIP2 4q32.1 / LRBA 4q31.3IKZF1 7p12.2 / LRBA 4q31.3
LRBA 4q31.3 / CASP12 11q22.3LRBA 4q31.3 / DRD3 3q13.31LRBA 4q31.3 / ESF1 20p12.1
LRBA 4q31.3 / GRIK3 1p34.3LRBA 4q31.3 / HFE2 1q21.1LRBA 4q31.3 / PPARGC1A 4p15.2
LRBA 4q31.3 / RXFP1 4q32.1LRBA 4q31.3 / SH3D19 4q31.3SAMD4A 14q22.2 / LRBA 4q31.3
UQCC LRBA 4q31.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;4)(q31;q31) LRBA/SH3D19

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 14 ]
  t(1;4)(p34;q31) LRBA/GRIK3
t(3;4)(q13;q31) LRBA/DRD3
t(4;4)(p15;q31) LRBA/PPARGC1A
t(4;4)(q24;q31) LRBA/NFKB1
DCLK2/LRBA (4q31)
LRBA/SH3D19 (4q31)
t(4;4)(q31;q32) FNIP2/LRBA
t(4;4)(q31;q32) LRBA/RXFP1
t(4;7)(q31;p12) IKZF1/LRBA
t(4;9)(q31;q21) PCSK5/LRBA
t(4;11)(q31;q22) LRBA/CASP12
t(4;14)(q31;q22) SAMD4A/LRBA
t(4;20)(q31;p12) LRBA/ESF1
t(4;20)(q31;q11) UQCC1/LRBA

External links

Nomenclature
HGNC (Hugo)LRBA   1742
Cards
Entrez_Gene (NCBI)LRBA  987  LPS responsive beige-like anchor protein
AliasesBGL; CDC4L; CVID8; LAB300; 
LBA
GeneCards (Weizmann)LRBA
Ensembl hg19 (Hinxton)ENSG00000198589 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198589 [Gene_View]  ENSG00000198589 [Sequence]  chr4:150264659-151015497 [Contig_View]  LRBA [Vega]
ICGC DataPortalENSG00000198589
TCGA cBioPortalLRBA
AceView (NCBI)LRBA
Genatlas (Paris)LRBA
WikiGenes987
SOURCE (Princeton)LRBA
Genetics Home Reference (NIH)LRBA
Genomic and cartography
GoldenPath hg38 (UCSC)LRBA  -     chr4:150264659-151015497 -  4q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRBA  -     4q31.3   [Description]    (hg19-Feb_2009)
EnsemblLRBA - 4q31.3 [CytoView hg19]  LRBA - 4q31.3 [CytoView hg38]
Mapping of homologs : NCBILRBA [Mapview hg19]  LRBA [Mapview hg38]
OMIM606453   614700   
Gene and transcription
Genbank (Entrez)AA810175 AB208838 AF216648 AF217149 AF467287
RefSeq transcript (Entrez)NM_001199282 NM_006726
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRBA
Cluster EST : UnigeneHs.480938 [ NCBI ]
CGAP (NCI)Hs.480938
Alternative Splicing GalleryENSG00000198589
Gene ExpressionLRBA [ NCBI-GEO ]   LRBA [ EBI - ARRAY_EXPRESS ]   LRBA [ SEEK ]   LRBA [ MEM ]
Gene Expression Viewer (FireBrowse)LRBA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)987
GTEX Portal (Tissue expression)LRBA
Human Protein AtlasENSG00000198589-LRBA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50851   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50851  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50851
Splice isoforms : SwissVarP50851
PhosPhoSitePlusP50851
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    BEACH_dom    BEACH_dom_sf    ConA-like_dom_sf    DUF1088    DUF4704    PH-BEACH_dom    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Beach (PF02138)    DUF1088 (PF06469)    DUF4704 (PF15787)    PH_BEACH (PF14844)   
Domain families : Pfam (NCBI)pfam02138    pfam06469    pfam15787    pfam14844   
Domain families : Smart (EMBL)Beach (SM01026)  WD40 (SM00320)  
Conserved Domain (NCBI)LRBA
DMDM Disease mutations987
Blocks (Seattle)LRBA
PDB (SRS)1T77   
PDB (PDBSum)1T77   
PDB (IMB)1T77   
PDB (RSDB)1T77   
Structural Biology KnowledgeBase1T77   
SCOP (Structural Classification of Proteins)1T77   
CATH (Classification of proteins structures)1T77   
SuperfamilyP50851
Human Protein Atlas [tissue]ENSG00000198589-LRBA [tissue]
Peptide AtlasP50851
HPRD07344
IPIIPI00002255   IPI00964281   IPI00945818   IPI00967340   IPI00967070   IPI00964548   
Protein Interaction databases
DIP (DOE-UCLA)P50851
IntAct (EBI)P50851
FunCoupENSG00000198589
BioGRIDLRBA
STRING (EMBL)LRBA
ZODIACLRBA
Ontologies - Pathways
QuickGOP50851
Ontology : AmiGOmolecular_function  lysosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  biological_process  membrane  integral component of membrane  
Ontology : EGO-EBImolecular_function  lysosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  biological_process  membrane  integral component of membrane  
NDEx NetworkLRBA
Atlas of Cancer Signalling NetworkLRBA
Wikipedia pathwaysLRBA
Orthology - Evolution
OrthoDB987
GeneTree (enSembl)ENSG00000198589
Phylogenetic Trees/Animal Genes : TreeFamLRBA
HOVERGENP50851
HOGENOMP50851
Homologs : HomoloGeneLRBA
Homology/Alignments : Family Browser (UCSC)LRBA
Gene fusions - Rearrangements
Fusion : MitelmanFNIP2/LRBA [4q32.1/4q31.3]  [t(4;4)(q31;q32)]  
Fusion : MitelmanIKZF1/LRBA [7p12.2/4q31.3]  [t(4;7)(q31;p12)]  
Fusion : MitelmanLRBA/CASP12 [4q31.3/11q22.3]  [t(4;11)(q31;q22)]  
Fusion : MitelmanLRBA/DRD3 [4q31.3/3q13.31]  [t(3;4)(q13;q31)]  
Fusion : MitelmanLRBA/ESF1 [4q31.3/20p12.1]  [t(4;20)(q31;p12)]  
Fusion : MitelmanLRBA/GRIK3 [4q31.3/1p34.3]  [t(1;4)(p34;q31)]  
Fusion : MitelmanLRBA/HFE2 [4q31.3/1q21.1]  [t(1;4)(q21;q31)]  
Fusion : MitelmanLRBA/NFKB1 [4q31.3/4q24]  [t(4;4)(q24;q31)]  
Fusion : MitelmanLRBA/PPARGC1A [4q31.3/4p15.2]  [t(4;4)(p15;q31)]  
Fusion : MitelmanLRBA/RXFP1 [4q31.3/4q32.1]  [t(4;4)(q31;q32)]  
Fusion : MitelmanLRBA/SH3D19 [4q31.3/4q31.3]  [t(4;4)(q31;q31)]  
Fusion : MitelmanPCSK5/LRBA [9q21.13/4q31.3]  [t(4;9)(q31;q21)]  
Fusion : MitelmanSAMD4A/LRBA [14q22.2/4q31.3]  [t(4;14)(q31;q22)]  
Fusion : MitelmanUQCC1/LRBA [20q11.22/4q31.3]  [t(4;20)(q31;q11)]  
Fusion PortalFNIP2 4q32.1 LRBA 4q31.3 BRCA
Fusion PortalIKZF1 7p12.2 LRBA 4q31.3 BRCA
Fusion PortalLRBA 4q31.3 CASP12 11q22.3 BRCA
Fusion PortalLRBA 4q31.3 DRD3 3q13.31 LUAD
Fusion PortalLRBA 4q31.3 ESF1 20p12.1 BRCA
Fusion PortalLRBA 4q31.3 GRIK3 1p34.3 BRCA
Fusion PortalLRBA 4q31.3 HFE2 1q21.1 PRAD
Fusion PortalLRBA 4q31.3 PPARGC1A 4p15.2 BRCA
Fusion PortalLRBA 4q31.3 RXFP1 4q32.1 BLCA
Fusion PortalLRBA 4q31.3 SH3D19 4q31.3 BLCA HNSC LUSC
Fusion PortalSAMD4A 14q22.2 LRBA 4q31.3 PRAD
Fusion PortalUQCC LRBA 4q31.3 BRCA
Fusion : QuiverLRBA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRBA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRBA
dbVarLRBA
ClinVarLRBA
1000_GenomesLRBA 
Exome Variant ServerLRBA
ExAC (Exome Aggregation Consortium)ENSG00000198589
GNOMAD BrowserENSG00000198589
Varsome BrowserLRBA
Genetic variants : HAPMAP987
Genomic Variants (DGV)LRBA [DGVbeta]
DECIPHERLRBA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRBA 
Mutations
ICGC Data PortalLRBA 
TCGA Data PortalLRBA 
Broad Tumor PortalLRBA
OASIS PortalLRBA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRBA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRBA
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch LRBA
DgiDB (Drug Gene Interaction Database)LRBA
DoCM (Curated mutations)LRBA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRBA (select a term)
intoGenLRBA
Cancer3DLRBA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606453    614700   
Orphanet23515   
DisGeNETLRBA
MedgenLRBA
Genetic Testing Registry LRBA
NextProtP50851 [Medical]
TSGene987
GENETestsLRBA
Target ValidationLRBA
Huge Navigator LRBA [HugePedia]
snp3D : Map Gene to Disease987
BioCentury BCIQLRBA
ClinGenLRBA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD987
Chemical/Pharm GKB GenePA30444
Clinical trialLRBA
Miscellaneous
canSAR (ICR)LRBA (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRBA
EVEXLRBA
GoPubMedLRBA
iHOPLRBA
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 11:33:13 CEST 2018
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