Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CHEK1 (checkpoint kinase 1)

Identity

Alias_namesCHK1 (checkpoint, S.pombe) homolog
CHK1 checkpoint homolog (S. pombe)
Alias_symbol (synonym)CHK1
Other alias
HGNC (Hugo) CHEK1
LocusID (NCBI) 1111
Atlas_Id 210
Location 11q24.2  [Link to chromosome band 11q24]
Location_base_pair Starts at 125625136 and ends at 125676255 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CHEK1 (11q24.2) / DCAF8 (1q23.2)CHEK1 (11q24.2) / EXOC6 (10q23.33)TMEM135 (11q14.2) / CHEK1 (11q24.2)
CHEK1 11q24.2 / EXOC6 10q23.33TMEM135 11q14.2 / CHEK1 11q24.2

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)CHEK1   1925
Cards
Entrez_Gene (NCBI)CHEK1  1111  checkpoint kinase 1
AliasesCHK1
GeneCards (Weizmann)CHEK1
Ensembl hg19 (Hinxton)ENSG00000149554 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149554 [Gene_View]  chr11:125625136-125676255 [Contig_View]  CHEK1 [Vega]
ICGC DataPortalENSG00000149554
TCGA cBioPortalCHEK1
AceView (NCBI)CHEK1
Genatlas (Paris)CHEK1
WikiGenes1111
SOURCE (Princeton)CHEK1
Genetics Home Reference (NIH)CHEK1
Genomic and cartography
GoldenPath hg38 (UCSC)CHEK1  -     chr11:125625136-125676255 +  11q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHEK1  -     11q24.2   [Description]    (hg19-Feb_2009)
EnsemblCHEK1 - 11q24.2 [CytoView hg19]  CHEK1 - 11q24.2 [CytoView hg38]
Mapping of homologs : NCBICHEK1 [Mapview hg19]  CHEK1 [Mapview hg38]
OMIM603078   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001114121 NM_001114122 NM_001244846 NM_001274 NM_001330427 NM_001330428
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHEK1
Cluster EST : UnigeneHs.595920 [ NCBI ]
CGAP (NCI)Hs.595920
Alternative Splicing GalleryENSG00000149554
Gene ExpressionCHEK1 [ NCBI-GEO ]   CHEK1 [ EBI - ARRAY_EXPRESS ]   CHEK1 [ SEEK ]   CHEK1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHEK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1111
GTEX Portal (Tissue expression)CHEK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14757   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14757  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14757
Splice isoforms : SwissVarO14757
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO14757
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)CHEK1
DMDM Disease mutations1111
Blocks (Seattle)CHEK1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyO14757
Human Protein AtlasENSG00000149554
Peptide AtlasO14757
HPRD04356
IPIIPI00023664   IPI00973081   IPI01008883   IPI00909845   IPI00978454   IPI00981751   IPI00984333   IPI00983124   IPI00974222   
Protein Interaction databases
DIP (DOE-UCLA)O14757
IntAct (EBI)O14757
FunCoupENSG00000149554
BioGRIDCHEK1
STRING (EMBL)CHEK1
ZODIACCHEK1
Ontologies - Pathways
QuickGOO14757
Ontology : AmiGODNA damage checkpoint  DNA damage checkpoint  chromosome, telomeric region  chromatin  condensed nuclear chromosome  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  DNA replication  DNA repair  cellular response to DNA damage stimulus  DNA damage induced protein phosphorylation  cell cycle  regulation of double-strand break repair via homologous recombination  regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage  kinase activity  peptidyl-threonine phosphorylation  protein domain specific binding  G2 DNA damage checkpoint  histone kinase activity (H3-T11 specific)  histone H3-T11 phosphorylation  intracellular signal transduction  intracellular membrane-bounded organelle  protein complex  positive regulation of cell cycle  negative regulation of mitotic nuclear division  regulation of mitotic centrosome separation  chromatin-mediated maintenance of transcription  cellular response to mechanical stimulus  replicative senescence  regulation of signal transduction by p53 class mediator  regulation of histone H3-K9 acetylation  
Ontology : EGO-EBIDNA damage checkpoint  DNA damage checkpoint  chromosome, telomeric region  chromatin  condensed nuclear chromosome  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  DNA replication  DNA repair  cellular response to DNA damage stimulus  DNA damage induced protein phosphorylation  cell cycle  regulation of double-strand break repair via homologous recombination  regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage  kinase activity  peptidyl-threonine phosphorylation  protein domain specific binding  G2 DNA damage checkpoint  histone kinase activity (H3-T11 specific)  histone H3-T11 phosphorylation  intracellular signal transduction  intracellular membrane-bounded organelle  protein complex  positive regulation of cell cycle  negative regulation of mitotic nuclear division  regulation of mitotic centrosome separation  chromatin-mediated maintenance of transcription  cellular response to mechanical stimulus  replicative senescence  regulation of signal transduction by p53 class mediator  regulation of histone H3-K9 acetylation  
Pathways : BIOCARTA [Genes]   
Pathways : KEGGCell cycle    p53 signaling pathway    HTLV-I infection    Viral carcinogenesis   
NDEx NetworkCHEK1
Atlas of Cancer Signalling NetworkCHEK1
Wikipedia pathwaysCHEK1
Orthology - Evolution
OrthoDB1111
GeneTree (enSembl)ENSG00000149554
Phylogenetic Trees/Animal Genes : TreeFamCHEK1
HOVERGENO14757
HOGENOMO14757
Homologs : HomoloGeneCHEK1
Homology/Alignments : Family Browser (UCSC)CHEK1
Gene fusions - Rearrangements
Fusion : MitelmanCHEK1/EXOC6 [11q24.2/10q23.33]  
Fusion : MitelmanTMEM135/CHEK1 [11q14.2/11q24.2]  [t(11;11)(q14;q24)]  
Fusion: TCGACHEK1 11q24.2 EXOC6 10q23.33 OV
Fusion: TCGATMEM135 11q14.2 CHEK1 11q24.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHEK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHEK1
dbVarCHEK1
ClinVarCHEK1
1000_GenomesCHEK1 
Exome Variant ServerCHEK1
ExAC (Exome Aggregation Consortium)CHEK1 (select the gene name)
Genetic variants : HAPMAP1111
Genomic Variants (DGV)CHEK1 [DGVbeta]
DECIPHERCHEK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHEK1 
Mutations
ICGC Data PortalCHEK1 
TCGA Data PortalCHEK1 
Broad Tumor PortalCHEK1
OASIS PortalCHEK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHEK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHEK1
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 CHEK1
DgiDB (Drug Gene Interaction Database)CHEK1
DoCM (Curated mutations)CHEK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHEK1 (select a term)
intoGenCHEK1
Cancer3DCHEK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603078   
Orphanet
MedgenCHEK1
Genetic Testing Registry CHEK1
NextProtO14757 [Medical]
TSGene1111
GENETestsCHEK1
Target ValidationCHEK1
Huge Navigator CHEK1 [HugePedia]
snp3D : Map Gene to Disease1111
BioCentury BCIQCHEK1
ClinGenCHEK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1111
Chemical/Pharm GKB GenePA110
Clinical trialCHEK1
Miscellaneous
canSAR (ICR)CHEK1 (select the gene name)
Probes
Litterature
PubMed421 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHEK1
EVEXCHEK1
GoPubMedCHEK1
iHOPCHEK1
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 16:57:47 CEST 2017
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