Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

Identity

Alias_namesHLA-DR1B
Other aliasDRB1
HLA-DRB
SS1
HGNC (Hugo) HLA-DRB1
LocusID (NCBI) 3123
Atlas_Id 43946
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32578770 and ends at 32589836 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)
ABL2 (1q25.2) / HLA-DRB1 (6p21.32)E2F6 (2p25.1) / HLA-DRB1 (6p21.32)FGF5 (4q21.21) / HLA-DRB1 (6p21.32)
HLA-DRB1 (6p21.32) / ARIH2 (3p21.31)HLA-DRB1 (6p21.32) / C3 (19p13.3)HLA-DRB1 (6p21.32) / KCNAB1 (3q25.31)
HLA-DRB1 (6p21.32) / RAB9B (Xq22.2)HLA-DRB1 (6p21.32) / TPRN (9q34.3)IRX6 (16q12.2) / HLA-DRB1 (6p21.32)
PPP1R12B (1q32.1) / HLA-DRB1 (6p21.32)VIPR1 (3p22.1) / HLA-DRB1 (6p21.32)

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)HLA-DRB1   4948
Cards
Entrez_Gene (NCBI)HLA-DRB1  3123  major histocompatibility complex, class II, DR beta 1
AliasesDRB1; HLA-DR1B; HLA-DRB; SS1
GeneCards (Weizmann)HLA-DRB1
Ensembl hg19 (Hinxton)ENSG00000196126 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196126 [Gene_View]  chr6:32578770-32589836 [Contig_View]  HLA-DRB1 [Vega]
ICGC DataPortalENSG00000196126
TCGA cBioPortalHLA-DRB1
AceView (NCBI)HLA-DRB1
Genatlas (Paris)HLA-DRB1
WikiGenes3123
SOURCE (Princeton)HLA-DRB1
Genetics Home Reference (NIH)HLA-DRB1
Genomic and cartography
GoldenPath hg38 (UCSC)HLA-DRB1  -     chr6:32578770-32589836 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HLA-DRB1  -     6p21.32   [Description]    (hg19-Feb_2009)
EnsemblHLA-DRB1 - 6p21.32 [CytoView hg19]  HLA-DRB1 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DRB1 [Mapview hg19]  HLA-DRB1 [Mapview hg38]
OMIM126200   142857   180300   181000   
Gene and transcription
Genbank (Entrez)AF010142 AF017440 AF017441 AF291675 AF436097
RefSeq transcript (Entrez)NM_001243965 NM_001359193 NM_001359194 NM_002124
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_002392 NG_002432 NG_002433 NG_029921 NT_113891 NT_167245 NT_167246 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)HLA-DRB1
Cluster EST : UnigeneHs.736560 [ NCBI ]
CGAP (NCI)Hs.736560
Alternative Splicing GalleryENSG00000196126
Gene ExpressionHLA-DRB1 [ NCBI-GEO ]   HLA-DRB1 [ EBI - ARRAY_EXPRESS ]   HLA-DRB1 [ SEEK ]   HLA-DRB1 [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-DRB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3123
GTEX Portal (Tissue expression)HLA-DRB1
Human Protein AtlasENSG00000196126-HLA-DRB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9TQE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9TQE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9TQE0
Splice isoforms : SwissVarQ9TQE0
PhosPhoSitePlusQ9TQE0
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I/II-like_Ag-recog    MHC_II_a/b_N    MHC_II_b_N   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_II_beta (PF00969)   
Domain families : Pfam (NCBI)pfam07654    pfam00969   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_beta (SM00921)  
Domain structure : Prodom (Prabi Lyon)MHC_II_b_N (PD000328)   
Conserved Domain (NCBI)HLA-DRB1
DMDM Disease mutations3123
Blocks (Seattle)HLA-DRB1
SuperfamilyQ9TQE0
Human Protein Atlas [tissue]ENSG00000196126-HLA-DRB1 [tissue]
Peptide AtlasQ9TQE0
HPRD08349
IPIIPI00465279   IPI00639888   
Protein Interaction databases
DIP (DOE-UCLA)Q9TQE0
IntAct (EBI)Q9TQE0
FunCoupENSG00000196126
BioGRIDHLA-DRB1
STRING (EMBL)HLA-DRB1
ZODIACHLA-DRB1
Ontologies - Pathways
QuickGOQ9TQE0
Ontology : AmiGOGolgi membrane  polysaccharide assembly with MHC class II protein complex  lysosomal membrane  lysosomal membrane  plasma membrane  cell surface  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  late endosome membrane  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  extracellular exosome  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIGolgi membrane  polysaccharide assembly with MHC class II protein complex  lysosomal membrane  lysosomal membrane  plasma membrane  cell surface  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  late endosome membrane  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  extracellular exosome  integral component of lumenal side of endoplasmic reticulum membrane  
Pathways : BIOCARTABystander B Cell Activation [Genes]    Lck and Fyn tyrosine kinases in initiation of TCR Activation [Genes]    The Co-Stimulatory Signal During T-cell Activation [Genes]    Cytokines and Inflammatory Response [Genes]    Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor [Genes]    IL 5 Signaling Pathway [Genes]    Th1/Th2 Differentiation [Genes]    Antigen Dependent B Cell Activation [Genes]    B Lymphocyte Cell Surface Molecules [Genes]    The Role of Eosinophils in the Chemokine Network of Allergy [Genes]    Antigen Processing and Presentation [Genes]   
Pathways : KEGGCell adhesion molecules (CAMs)    Type I diabetes mellitus    Hematopoietic cell lineage    Antigen processing and presentation   
NDEx NetworkHLA-DRB1
Atlas of Cancer Signalling NetworkHLA-DRB1
Wikipedia pathwaysHLA-DRB1
Orthology - Evolution
OrthoDB3123
GeneTree (enSembl)ENSG00000196126
Phylogenetic Trees/Animal Genes : TreeFamHLA-DRB1
HOVERGENQ9TQE0
HOGENOMQ9TQE0
Homologs : HomoloGeneHLA-DRB1
Homology/Alignments : Family Browser (UCSC)HLA-DRB1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)ABL2 [1q25.2]  -  HLA-DRB1 [6p21.32]  [FUSC002529]
Fusion Cancer (Beijing)FGF5 [4q21.21]  -  HLA-DRB1 [6p21.32]  [FUSC002735]
Fusion Cancer (Beijing)HLA-DRB1 [6p21.32]  -  KCNAB1 [3q25.31]  [FUSC002378]
Fusion Cancer (Beijing)HLA-DRB1 [6p21.32]  -  RAB9B [Xq22.2]  [FUSC003544]
Fusion Cancer (Beijing)HLA-DRB1 [6p21.32]  -  TPRN [9q34.3]  [FUSC000108]
Fusion Cancer (Beijing)IRX6 [16q12.2]  -  HLA-DRB1 [6p21.32]  [FUSC002745]
Fusion Cancer (Beijing)PPP1R12B [1q32.1]  -  HLA-DRB1 [6p21.32]  [FUSC002519]
Fusion Cancer (Beijing)VIPR1 [3p22.1]  -  HLA-DRB1 [6p21.32]  [FUSC003126]
Fusion : QuiverHLA-DRB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-DRB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DRB1
dbVarHLA-DRB1
ClinVarHLA-DRB1
1000_GenomesHLA-DRB1 
Exome Variant ServerHLA-DRB1
ExAC (Exome Aggregation Consortium)ENSG00000196126
GNOMAD BrowserENSG00000196126
Genetic variants : HAPMAP3123
Genomic Variants (DGV)HLA-DRB1 [DGVbeta]
DECIPHERHLA-DRB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHLA-DRB1 
Mutations
ICGC Data PortalHLA-DRB1 
TCGA Data PortalHLA-DRB1 
Broad Tumor PortalHLA-DRB1
OASIS PortalHLA-DRB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-DRB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLA-DRB1
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
BioMutasearch HLA-DRB1
DgiDB (Drug Gene Interaction Database)HLA-DRB1
DoCM (Curated mutations)HLA-DRB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-DRB1 (select a term)
intoGenHLA-DRB1
Cancer3DHLA-DRB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM126200    142857    180300    181000   
Orphanet735    18906    18907    18905    3637    8750    8663    11711    11576   
DisGeNETHLA-DRB1
MedgenHLA-DRB1
Genetic Testing Registry HLA-DRB1
NextProtQ9TQE0 [Medical]
TSGene3123
GENETestsHLA-DRB1
Target ValidationHLA-DRB1
Huge Navigator HLA-DRB1 [HugePedia]
snp3D : Map Gene to Disease3123
BioCentury BCIQHLA-DRB1
ClinGenHLA-DRB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3123
Chemical/Pharm GKB GenePA35072
Clinical trialHLA-DRB1
Miscellaneous
canSAR (ICR)HLA-DRB1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-DRB1
EVEXHLA-DRB1
GoPubMedHLA-DRB1
iHOPHLA-DRB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 14 11:50:38 CEST 2018
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