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LMBRD1 (LMBR1 domain containing 1)

Identity

Alias_namesC6orf209
chromosome 6 open reading frame 209
Alias_symbol (synonym)FLJ11240
bA810I22.1
cblF
Other aliasLMBD1
MAHCF
NESI
HGNC (Hugo) LMBRD1
LocusID (NCBI) 55788
Atlas_Id 54068
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 69675749 and ends at 69797157 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)
KHDRBS2 (6q11.1) / LMBRD1 (6q13)L2HGDH (14q21.3) / LMBRD1 (6q13)LMBRD1 (6q13) / EYS (6q12)
LMBRD1 (6q13) / GPR157 (1p36.23)LMBRD1 (6q13) / LGSN (6q12)SLC4A8 (12q13.13) / LMBRD1 (6q13)
KHDRBS2 6q11.1 / LMBRD1 6q13L2HGDH 14q21.3 / LMBRD1 6q13LMBRD1 6q13 / EYS 6q12
LMBRD1 6q13 / LGSN 6q12

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(6;20)(q13;q12) LMBRD1/CHD6

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;6)(q11;q13) KHDRBS2/LMBRD1
t(6;6)(q13;q24) LMBRD1/REPS1
t(6;14)(q13;q21) L2HGDH/LMBRD1

External links

Nomenclature
HGNC (Hugo)LMBRD1   23038
Cards
Entrez_Gene (NCBI)LMBRD1  55788  LMBR1 domain containing 1
AliasesC6orf209; LMBD1; MAHCF; NESI
GeneCards (Weizmann)LMBRD1
Ensembl hg19 (Hinxton)ENSG00000168216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168216 [Gene_View]  ENSG00000168216 [Sequence]  chr6:69675749-69797157 [Contig_View]  LMBRD1 [Vega]
ICGC DataPortalENSG00000168216
TCGA cBioPortalLMBRD1
AceView (NCBI)LMBRD1
Genatlas (Paris)LMBRD1
WikiGenes55788
SOURCE (Princeton)LMBRD1
Genetics Home Reference (NIH)LMBRD1
Genomic and cartography
GoldenPath hg38 (UCSC)LMBRD1  -     chr6:69675749-69797157 -  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LMBRD1  -     6q13   [Description]    (hg19-Feb_2009)
EnsemblLMBRD1 - 6q13 [CytoView hg19]  LMBRD1 - 6q13 [CytoView hg38]
Mapping of homologs : NCBILMBRD1 [Mapview hg19]  LMBRD1 [Mapview hg38]
OMIM277380   612625   
Gene and transcription
Genbank (Entrez)AB074281 AF113224 AF208863 AF211480 AK002102
RefSeq transcript (Entrez)NM_001363722 NM_018368
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LMBRD1
Cluster EST : UnigeneHs.736005 [ NCBI ]
CGAP (NCI)Hs.736005
Alternative Splicing GalleryENSG00000168216
Gene ExpressionLMBRD1 [ NCBI-GEO ]   LMBRD1 [ EBI - ARRAY_EXPRESS ]   LMBRD1 [ SEEK ]   LMBRD1 [ MEM ]
Gene Expression Viewer (FireBrowse)LMBRD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55788
GTEX Portal (Tissue expression)LMBRD1
Human Protein AtlasENSG00000168216-LMBRD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUN5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUN5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUN5
Splice isoforms : SwissVarQ9NUN5
PhosPhoSitePlusQ9NUN5
Domains : Interpro (EBI)LMBR1-like_membr_prot   
Domain families : Pfam (Sanger)LMBR1 (PF04791)   
Domain families : Pfam (NCBI)pfam04791   
Conserved Domain (NCBI)LMBRD1
DMDM Disease mutations55788
Blocks (Seattle)LMBRD1
SuperfamilyQ9NUN5
Human Protein Atlas [tissue]ENSG00000168216-LMBRD1 [tissue]
Peptide AtlasQ9NUN5
HPRD12877
IPIIPI00020007   IPI00871937   IPI00640628   IPI00807437   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUN5
IntAct (EBI)Q9NUN5
FunCoupENSG00000168216
BioGRIDLMBRD1
STRING (EMBL)LMBRD1
ZODIACLMBRD1
Ontologies - Pathways
QuickGOQ9NUN5
Ontology : AmiGOinsulin receptor binding  lysosomal membrane  plasma membrane  cobalamin metabolic process  cobalamin-transporting ATPase activity  cobalamin transport  membrane  integral component of membrane  viral process  cobalamin binding  clathrin-coated endocytic vesicle  
Ontology : EGO-EBIinsulin receptor binding  lysosomal membrane  plasma membrane  cobalamin metabolic process  cobalamin-transporting ATPase activity  cobalamin transport  membrane  integral component of membrane  viral process  cobalamin binding  clathrin-coated endocytic vesicle  
Pathways : KEGGVitamin digestion and absorption   
NDEx NetworkLMBRD1
Atlas of Cancer Signalling NetworkLMBRD1
Wikipedia pathwaysLMBRD1
Orthology - Evolution
OrthoDB55788
GeneTree (enSembl)ENSG00000168216
Phylogenetic Trees/Animal Genes : TreeFamLMBRD1
HOVERGENQ9NUN5
HOGENOMQ9NUN5
Homologs : HomoloGeneLMBRD1
Homology/Alignments : Family Browser (UCSC)LMBRD1
Gene fusions - Rearrangements
Fusion : MitelmanKHDRBS2/LMBRD1 [6q11.1/6q13]  [t(6;6)(q11;q13)]  
Fusion : MitelmanL2HGDH/LMBRD1 [14q21.3/6q13]  [t(6;14)(q13;q21)]  
Fusion PortalKHDRBS2 6q11.1 LMBRD1 6q13 LUAD
Fusion PortalL2HGDH 14q21.3 LMBRD1 6q13 BRCA
Fusion PortalLMBRD1 6q13 EYS 6q12 BRCA
Fusion PortalLMBRD1 6q13 LGSN 6q12 THCA
Fusion : QuiverLMBRD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLMBRD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LMBRD1
dbVarLMBRD1
ClinVarLMBRD1
1000_GenomesLMBRD1 
Exome Variant ServerLMBRD1
ExAC (Exome Aggregation Consortium)ENSG00000168216
GNOMAD BrowserENSG00000168216
Varsome BrowserLMBRD1
Genetic variants : HAPMAP55788
Genomic Variants (DGV)LMBRD1 [DGVbeta]
DECIPHERLMBRD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLMBRD1 
Mutations
ICGC Data PortalLMBRD1 
TCGA Data PortalLMBRD1 
Broad Tumor PortalLMBRD1
OASIS PortalLMBRD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLMBRD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLMBRD1
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LMBRD1
DgiDB (Drug Gene Interaction Database)LMBRD1
DoCM (Curated mutations)LMBRD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LMBRD1 (select a term)
intoGenLMBRD1
Cancer3DLMBRD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM277380    612625   
Orphanet11310   
DisGeNETLMBRD1
MedgenLMBRD1
Genetic Testing Registry LMBRD1
NextProtQ9NUN5 [Medical]
TSGene55788
GENETestsLMBRD1
Target ValidationLMBRD1
Huge Navigator LMBRD1 [HugePedia]
snp3D : Map Gene to Disease55788
BioCentury BCIQLMBRD1
ClinGenLMBRD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55788
Chemical/Pharm GKB GenePA134948847
Clinical trialLMBRD1
Miscellaneous
canSAR (ICR)LMBRD1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLMBRD1
EVEXLMBRD1
GoPubMedLMBRD1
iHOPLMBRD1
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 6 11:16:54 CET 2018
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