| Nomenclature |
|---|
| HGNC (Hugo) | RAD50 9816 |
| Cards |
|---|
| Entrez_Gene (NCBI) | RAD50 10111 RAD50 double strand break repair protein |
| Aliases | NBSLD; 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 DataPortal | ENSG00000113522 |
| TCGA cBioPortal | RAD50 |
| AceView (NCBI) | RAD50 |
| Genatlas (Paris) | RAD50 |
| WikiGenes | 10111 |
| 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) |
| Ensembl | RAD50 - 5q31.1 [CytoView hg19] RAD50 - 5q31.1 [CytoView hg38] |
| Mapping of homologs : NCBI | RAD50 [Mapview hg19] RAD50 [Mapview hg38] |
| OMIM | 604040 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 : Unigene | Hs.633509 [ NCBI ] |
| CGAP (NCI) | Hs.633509 |
| Alternative Splicing Gallery | ENSG00000113522 |
| Gene Expression | RAD50 [ 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] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 10111 |
| GTEX Portal (Tissue expression) | RAD50 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q92878 (Uniprot) |
| NextProt | Q92878 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q92878 |
| Splice isoforms : SwissVar | Q92878 (Swissvar) |
| PhosPhoSitePlus | Q92878 |
| 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 mutations | 10111 |
| Blocks (Seattle) | RAD50 |
| Superfamily | Q92878 |
| Human Protein Atlas | ENSG00000113522 |
| Peptide Atlas | Q92878 |
| HPRD | 04950 |
| IPI | IPI00305282 IPI00549205 IPI00107531 IPI01013687 IPI00658205 IPI00798033 IPI00852595 IPI00878541 IPI00894448 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q92878 |
| IntAct (EBI) | Q92878 |
| FunCoup | ENSG00000113522 |
| BioGRID | RAD50 |
| STRING (EMBL) | RAD50 |
| ZODIAC | RAD50 |
| Ontologies - Pathways |
|---|
| QuickGO | Q92878 |
| Ontology : AmiGO | single-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-EBI | single-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 : BIOCARTA | ATM Signaling Pathway [Genes] Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes] |
| Pathways : KEGG | Homologous recombination Non-homologous end-joining |
| NDEx Network | RAD50 |
| Atlas of Cancer Signalling Network | RAD50 |
| Wikipedia pathways | RAD50 |
| Orthology - Evolution |
|---|
| OrthoDB | 10111 |
| GeneTree (enSembl) | ENSG00000113522 |
| Phylogenetic Trees/Animal Genes : TreeFam | RAD50 |
| Homologs : HomoloGene | RAD50 |
| Homology/Alignments : Family Browser (UCSC) | RAD50 |
| Gene fusions - Rearrangements |
|---|
| Fusion: TCGA | RAD50 5q31.1 CADPS 3p14.2 LGG |
| Fusion: TCGA | RAD50 5q31.1 TCOF1 5q32 BRCA |
| Polymorphisms : SNP, variants |
|---|
| NCBI Variation Viewer | RAD50 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | RAD50 |
| dbVar | RAD50 |
| ClinVar | RAD50 |
| 1000_Genomes | RAD50 |
| Exome Variant Server | RAD50 |
| ExAC (Exome Aggregation Consortium) | RAD50 (select the gene name) |
| Genetic variants : HAPMAP | 10111 |
| Genomic Variants (DGV) | RAD50 [DGVbeta] |
| Mutations |
|---|
| ICGC Data Portal | RAD50 |
| TCGA Data Portal | RAD50 |
| Broad Tumor Portal | RAD50 |
| OASIS Portal | RAD50 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | RAD50 |
| 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 |
| BioMuta | search 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) |
| intoGen | RAD50 |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] |
| Diseases |
|---|
| DECIPHER (Syndromes) | 5:131892616-131980313 ENSG00000113522 |
| CONAN: Copy Number Analysis | RAD50 |
| Mutations and Diseases : HGMD | RAD50 |
| OMIM | 604040 613078 |
| Medgen | RAD50 |
| Genetic Testing Registry | RAD50
|
| NextProt | Q92878 [Medical] |
| TSGene | 10111 |
| GENETests | RAD50 |
| Huge Navigator |
RAD50 [HugePedia] |
| snp3D : Map Gene to Disease | 10111 |
| BioCentury BCIQ | RAD50 |
| ClinGen | RAD50 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 10111 |
| Chemical/Pharm GKB Gene | PA34175 |
| Clinical trial | RAD50 |
| Miscellaneous |
|---|
| canSAR (ICR) | RAD50 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 214 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | RAD50 |
| EVEX | RAD50 |
| GoPubMed | RAD50 |
| iHOP | RAD50 |
