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XRCC4 (X-ray repair cross complementing 4)

Identity

Alias_namesX-ray repair complementing defective repair in Chinese hamster cells 4
Other aliasSSMED
HGNC (Hugo) XRCC4
LocusID (NCBI) 7518
Atlas_Id 336
Location 5q14.2  [Link to chromosome band 5q14]
Location_base_pair Starts at 83077409 and ends at 83353760 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL4A5 (Xq22.3) / XRCC4 (5q14.2)TPD52L2 (20q13.33) / XRCC4 (5q14.2)XRCC4 (5q14.2) / MSANTD3 (9q31.1)
COL4A5 Xq22.3 / XRCC4 5q14.2

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)XRCC4   12831
Cards
Entrez_Gene (NCBI)XRCC4  7518  X-ray repair cross complementing 4
AliasesSSMED
GeneCards (Weizmann)XRCC4
Ensembl hg19 (Hinxton)ENSG00000152422 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152422 [Gene_View]  chr5:83077409-83353760 [Contig_View]  XRCC4 [Vega]
ICGC DataPortalENSG00000152422
TCGA cBioPortalXRCC4
AceView (NCBI)XRCC4
Genatlas (Paris)XRCC4
WikiGenes7518
SOURCE (Princeton)XRCC4
Genetics Home Reference (NIH)XRCC4
Genomic and cartography
GoldenPath hg38 (UCSC)XRCC4  -     chr5:83077409-83353760 +  5q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)XRCC4  -     5q14.2   [Description]    (hg19-Feb_2009)
EnsemblXRCC4 - 5q14.2 [CytoView hg19]  XRCC4 - 5q14.2 [CytoView hg38]
Mapping of homologs : NCBIXRCC4 [Mapview hg19]  XRCC4 [Mapview hg38]
OMIM194363   616541   
Gene and transcription
Genbank (Entrez)AB017445 AK290739 BC005259 BC010655 BC016314
RefSeq transcript (Entrez)NM_001318012 NM_001318013 NM_003401 NM_022406 NM_022550
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)XRCC4
Cluster EST : UnigeneHs.567359 [ NCBI ]
CGAP (NCI)Hs.567359
Alternative Splicing GalleryENSG00000152422
Gene ExpressionXRCC4 [ NCBI-GEO ]   XRCC4 [ EBI - ARRAY_EXPRESS ]   XRCC4 [ SEEK ]   XRCC4 [ MEM ]
Gene Expression Viewer (FireBrowse)XRCC4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7518
GTEX Portal (Tissue expression)XRCC4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13426   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13426  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13426
Splice isoforms : SwissVarQ13426
PhosPhoSitePlusQ13426
Domains : Interpro (EBI)DNA_repair_prot_XRCC4    XRCC4_C    XRCC4_N   
Domain families : Pfam (Sanger)XRCC4 (PF06632)   
Domain families : Pfam (NCBI)pfam06632   
Conserved Domain (NCBI)XRCC4
DMDM Disease mutations7518
Blocks (Seattle)XRCC4
PDB (SRS)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
PDB (PDBSum)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
PDB (IMB)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
PDB (RSDB)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
Structural Biology KnowledgeBase1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
SCOP (Structural Classification of Proteins)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
CATH (Classification of proteins structures)1FU1    1IK9    3II6    3MUD    3Q4F    3RWR    3SR2    3W03    4XA4    5CHX    5CJ0    5CJ4    5E50   
SuperfamilyQ13426
Human Protein AtlasENSG00000152422
Peptide AtlasQ13426
HPRD15951
IPIIPI00007672   IPI00019678   IPI00401064   IPI01014024   
Protein Interaction databases
DIP (DOE-UCLA)Q13426
IntAct (EBI)Q13426
FunCoupENSG00000152422
BioGRIDXRCC4
STRING (EMBL)XRCC4
ZODIACXRCC4
Ontologies - Pathways
QuickGOQ13426
Ontology : AmiGOcondensed chromosome  DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  DNA-dependent protein kinase-DNA ligase 4 complex  double-strand break repair  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  DNA recombination  protein C-terminus binding  response to X-ray  ligase activity  DNA ligase IV complex  identical protein binding  DNA ligation involved in DNA repair  positive regulation of ligase activity  nonhomologous end joining complex  cellular response to lithium ion  establishment of integrated proviral latency  
Ontology : EGO-EBIcondensed chromosome  DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  DNA-dependent protein kinase-DNA ligase 4 complex  double-strand break repair  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  DNA recombination  protein C-terminus binding  response to X-ray  ligase activity  DNA ligase IV complex  identical protein binding  DNA ligation involved in DNA repair  positive regulation of ligase activity  nonhomologous end joining complex  cellular response to lithium ion  establishment of integrated proviral latency  
Pathways : KEGGNon-homologous end-joining   
NDEx NetworkXRCC4
Atlas of Cancer Signalling NetworkXRCC4
Wikipedia pathwaysXRCC4
Orthology - Evolution
OrthoDB7518
GeneTree (enSembl)ENSG00000152422
Phylogenetic Trees/Animal Genes : TreeFamXRCC4
HOVERGENQ13426
HOGENOMQ13426
Homologs : HomoloGeneXRCC4
Homology/Alignments : Family Browser (UCSC)XRCC4
Gene fusions - Rearrangements
Fusion : MitelmanCOL4A5/XRCC4 [Xq22.3/5q14.2]  [t(X;5)(q22;q14)]  
Fusion: TCGACOL4A5 Xq22.3 XRCC4 5q14.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXRCC4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XRCC4
dbVarXRCC4
ClinVarXRCC4
1000_GenomesXRCC4 
Exome Variant ServerXRCC4
ExAC (Exome Aggregation Consortium)XRCC4 (select the gene name)
Genetic variants : HAPMAP7518
Genomic Variants (DGV)XRCC4 [DGVbeta]
DECIPHERXRCC4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisXRCC4 
Mutations
ICGC Data PortalXRCC4 
TCGA Data PortalXRCC4 
Broad Tumor PortalXRCC4
OASIS PortalXRCC4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXRCC4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXRCC4
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 XRCC4
DgiDB (Drug Gene Interaction Database)XRCC4
DoCM (Curated mutations)XRCC4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XRCC4 (select a term)
intoGenXRCC4
Cancer3DXRCC4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194363    616541   
Orphanet23333    14385   
MedgenXRCC4
Genetic Testing Registry XRCC4
NextProtQ13426 [Medical]
TSGene7518
GENETestsXRCC4
Target ValidationXRCC4
Huge Navigator XRCC4 [HugePedia]
snp3D : Map Gene to Disease7518
BioCentury BCIQXRCC4
ClinGenXRCC4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7518
Chemical/Pharm GKB GenePA37423
Clinical trialXRCC4
Miscellaneous
canSAR (ICR)XRCC4 (select the gene name)
Probes
Litterature
PubMed210 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXRCC4
EVEXXRCC4
GoPubMedXRCC4
iHOPXRCC4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:19:04 CEST 2017

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