Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RAD50 (RAD50 double strand break repair protein)

Identity

Other namesNBSLD
RAD502
hRad50
HGNC (Hugo) RAD50
LocusID (NCBI) 10111
Atlas_Id 245
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 131892616 and ends at 131980313 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RAD50 (5q31.1) / CADPS (3p14.2)RAD50 (5q31.1) / IL5 (5q31.1)RAD50 (5q31.1) / PDLIM4 (5q31.1)
RAD50 (5q31.1) / TCOF1 (5q32)RAD50 (5q31.1) / YTHDC2 (5q22.2)RAD50 5q31.1 / CADPS 3p14.2
RAD50 5q31.1 / TCOF1 5q32

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Nijmegen breakage syndrome

External links

Nomenclature
HGNC (Hugo)RAD50   9816
Cards
Entrez_Gene (NCBI)RAD50  10111  RAD50 double strand break repair protein
AliasesNBSLD; RAD502; hRad50
GeneCards (Weizmann)RAD50
Ensembl hg19 (Hinxton)ENSG00000113522 [Gene_View]  chr5:131892616-131980313 [Contig_View]  RAD50 [Vega]
Ensembl hg38 (Hinxton)ENSG00000113522 [Gene_View]  chr5:131892616-131980313 [Contig_View]  RAD50 [Vega]
ICGC DataPortalENSG00000113522
TCGA cBioPortalRAD50
AceView (NCBI)RAD50
Genatlas (Paris)RAD50
WikiGenes10111
SOURCE (Princeton)RAD50
Genomic and cartography
GoldenPath hg19 (UCSC)RAD50  -     chr5:131892616-131980313 +  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAD50  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblRAD50 - 5q31.1 [CytoView hg19]  RAD50 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBIRAD50 [Mapview hg19]  RAD50 [Mapview hg38]
OMIM604040   613078   
Gene and transcription
Genbank (Entrez)AF057299 AF057300 AK290597 AK307439 BC062603
RefSeq transcript (Entrez)NM_005732 NM_133482
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_021151 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)RAD50
Cluster EST : UnigeneHs.633509 [ NCBI ]
CGAP (NCI)Hs.633509
Alternative Splicing GalleryENSG00000113522
Gene ExpressionRAD50 [ NCBI-GEO ]   RAD50 [ EBI - ARRAY_EXPRESS ]   RAD50 [ SEEK ]   RAD50 [ MEM ]
Gene Expression Viewer (FireBrowse)RAD50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10111
GTEX Portal (Tissue expression)RAD50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92878 (Uniprot)
NextProtQ92878  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92878
Splice isoforms : SwissVarQ92878 (Swissvar)
PhosPhoSitePlusQ92878
Domaine pattern : Prosite (Expaxy)ZN_HOOK (PS51131)   
Domains : Interpro (EBI)P-loop_NTPase    Rad50_eukaryotes    Zn_hook_RAD50   
Domain families : Pfam (Sanger)Rad50_zn_hook (PF04423)   
Domain families : Pfam (NCBI)pfam04423   
DMDM Disease mutations10111
Blocks (Seattle)RAD50
SuperfamilyQ92878
Human Protein AtlasENSG00000113522
Peptide AtlasQ92878
HPRD04950
IPIIPI00305282   IPI00549205   IPI00107531   IPI01013687   IPI00658205   IPI00798033   IPI00852595   IPI00878541   IPI00894448   
Protein Interaction databases
DIP (DOE-UCLA)Q92878
IntAct (EBI)Q92878
FunCoupENSG00000113522
BioGRIDRAD50
STRING (EMBL)RAD50
ZODIACRAD50
Ontologies - Pathways
QuickGOQ92878
Ontology : AmiGOsingle-stranded DNA endodeoxyribonuclease activity  regulation of mitotic recombination  telomere maintenance via recombination  telomere maintenance  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  DNA double-strand break processing  DNA synthesis involved in DNA repair  strand displacement  nuclear chromosome, telomeric region  nuclear chromosome, telomeric region  nuclear chromatin  condensed nuclear chromosome  DNA binding  double-stranded telomeric DNA binding  ATP-dependent DNA helicase activity  adenylate kinase activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  DNA replication  DNA repair  double-strand break repair  double-strand break repair via nonhomologous end joining  DNA recombination  cellular response to DNA damage stimulus  telomere maintenance via telomerase  reciprocal meiotic recombination  3'-5' exonuclease activity  membrane  viral process  protein binding, bridging  Mre11 complex  telomeric 3' overhang formation  positive regulation of protein autophosphorylation  positive regulation of telomere maintenance  DNA duplex unwinding  positive regulation of kinase activity  site of double-strand break  single-stranded telomeric DNA binding  metal ion binding  nucleotide phosphorylation  G-quadruplex DNA binding  chromosome organization involved in meiotic cell cycle  nucleic acid phosphodiester bond hydrolysis  regulation of signal transduction by p53 class mediator  negative regulation of telomere capping  
Ontology : EGO-EBIsingle-stranded DNA endodeoxyribonuclease activity  regulation of mitotic recombination  telomere maintenance via recombination  telomere maintenance  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  DNA double-strand break processing  DNA synthesis involved in DNA repair  strand displacement  nuclear chromosome, telomeric region  nuclear chromosome, telomeric region  nuclear chromatin  condensed nuclear chromosome  DNA binding  double-stranded telomeric DNA binding  ATP-dependent DNA helicase activity  adenylate kinase activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  DNA replication  DNA repair  double-strand break repair  double-strand break repair via nonhomologous end joining  DNA recombination  cellular response to DNA damage stimulus  telomere maintenance via telomerase  reciprocal meiotic recombination  3'-5' exonuclease activity  membrane  viral process  protein binding, bridging  Mre11 complex  telomeric 3' overhang formation  positive regulation of protein autophosphorylation  positive regulation of telomere maintenance  DNA duplex unwinding  positive regulation of kinase activity  site of double-strand break  single-stranded telomeric DNA binding  metal ion binding  nucleotide phosphorylation  G-quadruplex DNA binding  chromosome organization involved in meiotic cell cycle  nucleic acid phosphodiester bond hydrolysis  regulation of signal transduction by p53 class mediator  negative regulation of telomere capping  
Pathways : BIOCARTAATM Signaling Pathway [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
Pathways : KEGGHomologous recombination    Non-homologous end-joining   
NDEx Network
Atlas of Cancer Signalling NetworkRAD50
Wikipedia pathwaysRAD50
Orthology - Evolution
OrthoDB10111
GeneTree (enSembl)ENSG00000113522
Phylogenetic Trees/Animal Genes : TreeFamRAD50
Homologs : HomoloGeneRAD50
Homology/Alignments : Family Browser (UCSC)RAD50
Gene fusions - Rearrangements
Fusion: TCGARAD50 5q31.1 CADPS 3p14.2 LGG
Fusion: TCGARAD50 5q31.1 TCOF1 5q32 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerRAD50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAD50
dbVarRAD50
ClinVarRAD50
1000_GenomesRAD50 
Exome Variant ServerRAD50
ExAC (Exome Aggregation Consortium)RAD50 (select the gene name)
Genetic variants : HAPMAP10111
Genomic Variants (DGV)RAD50 [DGVbeta]
Mutations
ICGC Data PortalRAD50 
TCGA Data PortalRAD50 
Broad Tumor PortalRAD50
OASIS PortalRAD50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAD50 
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RAD50
DgiDB (Drug Gene Interaction Database)RAD50
DoCM (Curated mutations)RAD50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAD50 (select a term)
intoGenRAD50
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131892616-131980313  ENSG00000113522
CONAN: Copy Number AnalysisRAD50 
Mutations and Diseases : HGMDRAD50
OMIM604040    613078   
MedgenRAD50
Genetic Testing Registry RAD50
NextProtQ92878 [Medical]
TSGene10111
GENETestsRAD50
Huge Navigator RAD50 [HugePedia]
snp3D : Map Gene to Disease10111
BioCentury BCIQRAD50
ClinGenRAD50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10111
Chemical/Pharm GKB GenePA34175
Clinical trialRAD50
Miscellaneous
canSAR (ICR)RAD50 (select the gene name)
Probes
Litterature
PubMed214 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAD50
EVEXRAD50
GoPubMedRAD50
iHOPRAD50
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 : Tue Aug 9 19:15:16 CEST 2016

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