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LBR (lamin B receptor)

Identity

Other namesDHCR14B
LMN2R
PHA
TDRD18
HGNC (Hugo) LBR
LocusID (NCBI) 3930
Atlas_Id 52162
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 225589204 and ends at 225615815 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC25A3 (12q23.1) / LBR (1q42.12)

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(7;9)(q11;p12) PAX5/POM121

External links

Nomenclature
HGNC (Hugo)LBR   6518
Cards
Entrez_Gene (NCBI)LBR  3930  lamin B receptor
AliasesDHCR14B; LMN2R; PHA; TDRD18
GeneCards (Weizmann)LBR
Ensembl hg19 (Hinxton)ENSG00000143815 [Gene_View]  chr1:225589204-225615815 [Contig_View]  LBR [Vega]
Ensembl hg38 (Hinxton)ENSG00000143815 [Gene_View]  chr1:225589204-225615815 [Contig_View]  LBR [Vega]
ICGC DataPortalENSG00000143815
TCGA cBioPortalLBR
AceView (NCBI)LBR
Genatlas (Paris)LBR
WikiGenes3930
SOURCE (Princeton)LBR
Genomic and cartography
GoldenPath hg19 (UCSC)LBR  -     chr1:225589204-225615815 -  1q42.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LBR  -     1q42.12   [Description]    (hg38-Dec_2013)
EnsemblLBR - 1q42.12 [CytoView hg19]  LBR - 1q42.12 [CytoView hg38]
Mapping of homologs : NCBILBR [Mapview hg19]  LBR [Mapview hg38]
OMIM169400   215140   600024   613471   
Gene and transcription
Genbank (Entrez)AB209514 AK125116 AK222834 AK303589 AK312258
RefSeq transcript (Entrez)NM_002296 NM_194442
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008099 NT_167186 NW_004929294
Consensus coding sequences : CCDS (NCBI)LBR
Cluster EST : UnigeneHs.735694 [ NCBI ]
CGAP (NCI)Hs.735694
Alternative Splicing GalleryENSG00000143815
Gene ExpressionLBR [ NCBI-GEO ]   LBR [ EBI - ARRAY_EXPRESS ]   LBR [ SEEK ]   LBR [ MEM ]
Gene Expression Viewer (FireBrowse)LBR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3930
GTEX Portal (Tissue expression)LBR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14739 (Uniprot)
NextProtQ14739  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14739
Splice isoforms : SwissVarQ14739 (Swissvar)
PhosPhoSitePlusQ14739
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24    Lamin-B_rcpt_of_tudor    Sterol_reductase_CS    Tudor   
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)    LBR_tudor (PF09465)   
Domain families : Pfam (NCBI)pfam01222    pfam09465   
Domain families : Smart (EMBL)TUDOR (SM00333)  
DMDM Disease mutations3930
Blocks (Seattle)LBR
PDB (SRS)2DIG   
PDB (PDBSum)2DIG   
PDB (IMB)2DIG   
PDB (RSDB)2DIG   
Structural Biology KnowledgeBase2DIG   
SCOP (Structural Classification of Proteins)2DIG   
CATH (Classification of proteins structures)2DIG   
SuperfamilyQ14739
Human Protein AtlasENSG00000143815
Peptide AtlasQ14739
HPRD02488
IPIIPI00292135   IPI00645733   IPI00647596   IPI00646282   IPI00640536   
Protein Interaction databases
DIP (DOE-UCLA)Q14739
IntAct (EBI)Q14739
FunCoupENSG00000143815
BioGRIDLBR
STRING (EMBL)LBR
ZODIACLBR
Ontologies - Pathways
QuickGOQ14739
Ontology : AmiGODNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  cholesterol biosynthetic process  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  nuclear membrane  poly(A) RNA binding  delta14-sterol reductase activity  oxidation-reduction process  chromo shadow domain binding  
Ontology : EGO-EBIDNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  cholesterol biosynthetic process  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  nuclear membrane  poly(A) RNA binding  delta14-sterol reductase activity  oxidation-reduction process  chromo shadow domain binding  
NDEx Network
Atlas of Cancer Signalling NetworkLBR
Wikipedia pathwaysLBR
Orthology - Evolution
OrthoDB3930
GeneTree (enSembl)ENSG00000143815
Phylogenetic Trees/Animal Genes : TreeFamLBR
Homologs : HomoloGeneLBR
Homology/Alignments : Family Browser (UCSC)LBR
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerLBR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LBR
dbVarLBR
ClinVarLBR
1000_GenomesLBR 
Exome Variant ServerLBR
ExAC (Exome Aggregation Consortium)LBR (select the gene name)
Genetic variants : HAPMAP3930
Genomic Variants (DGV)LBR [DGVbeta]
Mutations
ICGC Data PortalLBR 
TCGA Data PortalLBR 
Broad Tumor PortalLBR
OASIS PortalLBR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLBR 
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 LBR
DgiDB (Drug Gene Interaction Database)LBR
DoCM (Curated mutations)LBR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LBR (select a term)
intoGenLBR
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:225589204-225615815  ENSG00000143815
CONAN: Copy Number AnalysisLBR 
Mutations and Diseases : HGMDLBR
OMIM169400    215140    600024    613471   
MedgenLBR
Genetic Testing Registry LBR
NextProtQ14739 [Medical]
TSGene3930
GENETestsLBR
Huge Navigator LBR [HugePedia]
snp3D : Map Gene to Disease3930
BioCentury BCIQLBR
ClinGenLBR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3930
Chemical/Pharm GKB GenePA30304
Clinical trialLBR
Miscellaneous
canSAR (ICR)LBR (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLBR
EVEXLBR
GoPubMedLBR
iHOPLBR
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 Aug 9 19:05:05 CEST 2016

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