Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RAG1 (recombination activating 1)

Identity

Alias (NCBI)RAG-1
RNF74
HGNC (Hugo) RAG1
HGNC Alias symbRNF74
MGC43321
HGNC Alias namerecombination activating protein 1
 RING finger protein 74
 V(D)J recombination-activating protein 1
HGNC Previous namerecombination activating gene 1
LocusID (NCBI) 5896
Atlas_Id 350
Location 11p12  [Link to chromosome band 11p12]
Location_base_pair Starts at 36510353 and ends at 36579760 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)

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) [ 18 ]
  dic(3;9)(p14;p13) PAX5/FOXP1
dic(7;9)(p11-12;p12-13) PAX5/LOC392027
dic(9;12)(p13;p12) PAX5/SLCO1B3
dic(9;16)(p13;q11) PAX5/?
dic(9;17)(p13;q11) PAX5/TAOK1
dic(9;18)(p13;q11) PAX5/ZNF521
Double Hit Lymphoma (DHL)::Triple Hit Lymphoma (THL)
t(1;9)(p13;p12) PAX5/HIPK1
inv(7)(p15q34) TRB/HOXA10::t(7;7)(p15;q34) TRB/HOXA10
t(7;9)(q11;p12) PAX5/POM121
t(8;9)(q24;p13) ?/MYC
t(9;9)(p13;p24) PAX5/JAK2::del(9)(p13p24) PAX5/JAK2::inv(9)(p13p24) PAX5/JAK2
t(9;13)(p12;q21) PAX5/DACH1
t(9;15)(p13;q24) PAX5/PML
t(9;15)(p13;q24) PAX5/GOLGA6A
t(9;17)(p13;p12) PAX5/NCOR1
t(9;22)(p13;q13) PAX5/BRD1
t(X;9)(q21;p13) PAX5/DACH2

External links

Nomenclature
HGNC (Hugo)RAG1   9831
LRG (Locus Reference Genomic)LRG_98
Cards
Entrez_Gene (NCBI)RAG1  5896  recombination activating 1
AliasesRAG-1; RNF74
GeneCards (Weizmann)RAG1
Ensembl hg19 (Hinxton)ENSG00000166349 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166349 [Gene_View]  ENSG00000166349 [Sequence]  chr11:36510353-36579760 [Contig_View]  RAG1 [Vega]
ICGC DataPortalENSG00000166349
TCGA cBioPortalRAG1
AceView (NCBI)RAG1
Genatlas (Paris)RAG1
WikiGenes5896
SOURCE (Princeton)RAG1
Genetics Home Reference (NIH)RAG1
Genomic and cartography
GoldenPath hg38 (UCSC)RAG1  -     chr11:36510353-36579760 +  11p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAG1  -     11p12   [Description]    (hg19-Feb_2009)
GoldenPathRAG1 - 11p12 [CytoView hg19]  RAG1 - 11p12 [CytoView hg38]
ImmunoBaseENSG00000166349
genome Data Viewer NCBIRAG1 [Mapview hg19]  
OMIM179615   233650   601457   603554   609889   
Gene and transcription
Genbank (Entrez)AY235716 BC037344 M29474
RefSeq transcript (Entrez)NM_000448 NM_001377277 NM_001377278 NM_001377279 NM_001377280
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAG1
Alternative Splicing GalleryENSG00000166349
Gene ExpressionRAG1 [ NCBI-GEO ]   RAG1 [ EBI - ARRAY_EXPRESS ]   RAG1 [ SEEK ]   RAG1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAG1 [ Firebrowse - Broad ]
GenevisibleExpression of RAG1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5896
GTEX Portal (Tissue expression)RAG1
Human Protein AtlasENSG00000166349-RAG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15918   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15918  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15918
Splice isoforms : SwissVarP15918
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP15918
Domaine pattern : Prosite (Expaxy)NBD (PS51487)    ZF_RAG1 (PS51765)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)RAG1    RAG1_imp-bd    RAG1_Znf    RAG_nonamer-bd_dom    Znf_C2H2_sf    Znf_C3HC4_RING-type    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)RAG1 (PF12940)    RAG1_imp_bd (PF12560)    zf-C3HC4 (PF00097)    zf-RAG1 (PF10426)   
Domain families : Pfam (NCBI)pfam12940    pfam12560    pfam00097    pfam10426   
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)RAG1
DMDM Disease mutations5896
Blocks (Seattle)RAG1
SuperfamilyP15918
Human Protein Atlas [tissue]ENSG00000166349-RAG1 [tissue]
Peptide AtlasP15918
HPRD01556
IPIIPI00013914   IPI00975927   
Protein Interaction databases
DIP (DOE-UCLA)P15918
IntAct (EBI)P15918
FunCoupENSG00000166349
BioGRIDRAG1
STRING (EMBL)RAG1
ZODIACRAG1
Ontologies - Pathways
QuickGOP15918
Ontology : AmiGOadaptive immune response  pre-B cell allelic exclusion  pre-B cell allelic exclusion  DNA binding  endonuclease activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  nucleoplasm  DNA recombination  immune response  zinc ion binding  visual learning  histone monoubiquitination  histone monoubiquitination  B cell differentiation  T cell differentiation in thymus  V(D)J recombination  V(D)J recombination  V(D)J recombination  histone binding  protein homodimerization activity  T cell homeostasis  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  sequence-specific DNA binding  positive regulation of T cell differentiation  metal ion binding  thymus development  protein autoubiquitination  ubiquitin protein ligase activity  negative regulation of thymocyte apoptotic process  nucleic acid phosphodiester bond hydrolysis  DNA recombinase complex  endodeoxyribonuclease complex  double-stranded DNA endodeoxyribonuclease activity  regulation of behavioral fear response  
Ontology : EGO-EBIadaptive immune response  pre-B cell allelic exclusion  pre-B cell allelic exclusion  DNA binding  endonuclease activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  nucleoplasm  DNA recombination  immune response  zinc ion binding  visual learning  histone monoubiquitination  histone monoubiquitination  B cell differentiation  T cell differentiation in thymus  V(D)J recombination  V(D)J recombination  V(D)J recombination  histone binding  protein homodimerization activity  T cell homeostasis  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  sequence-specific DNA binding  positive regulation of T cell differentiation  metal ion binding  thymus development  protein autoubiquitination  ubiquitin protein ligase activity  negative regulation of thymocyte apoptotic process  nucleic acid phosphodiester bond hydrolysis  DNA recombinase complex  endodeoxyribonuclease complex  double-stranded DNA endodeoxyribonuclease activity  regulation of behavioral fear response  
Pathways : KEGGFoxO signaling pathway    Primary immunodeficiency   
NDEx NetworkRAG1
Atlas of Cancer Signalling NetworkRAG1
Wikipedia pathwaysRAG1
Orthology - Evolution
OrthoDB5896
GeneTree (enSembl)ENSG00000166349
Phylogenetic Trees/Animal Genes : TreeFamRAG1
HOGENOMP15918
Homologs : HomoloGeneRAG1
Homology/Alignments : Family Browser (UCSC)RAG1
Gene fusions - Rearrangements
Fusion : QuiverRAG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAG1
dbVarRAG1
ClinVarRAG1
1000_GenomesRAG1 
Exome Variant ServerRAG1
GNOMAD BrowserENSG00000166349
Varsome BrowserRAG1
Genetic variants : HAPMAP5896
Genomic Variants (DGV)RAG1 [DGVbeta]
DECIPHERRAG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAG1 
Mutations
ICGC Data PortalRAG1 
TCGA Data PortalRAG1 
Broad Tumor PortalRAG1
OASIS PortalRAG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAG1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRAG1
Mutations and Diseases : HGMDRAG1
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RAG1
DgiDB (Drug Gene Interaction Database)RAG1
DoCM (Curated mutations)RAG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAG1 (select a term)
intoGenRAG1
Cancer3DRAG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179615    233650    601457    603554    609889   
Orphanet17161    19165    21997    10452   
DisGeNETRAG1
MedgenRAG1
Genetic Testing Registry RAG1
NextProtP15918 [Medical]
TSGene5896
GENETestsRAG1
Target ValidationRAG1
Huge Navigator RAG1 [HugePedia]
snp3D : Map Gene to Disease5896
BioCentury BCIQRAG1
ClinGenRAG1
Clinical trials, drugs, therapy
Protein Interactions : CTD5896
Pharm GKB GenePA34185
Clinical trialRAG1
Miscellaneous
canSAR (ICR)RAG1 (select the gene name)
HarmonizomeRAG1
DataMed IndexRAG1
Probes
Litterature
PubMed138 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAG1
EVEXRAG1
GoPubMedRAG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:32:37 CEST 2020
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