Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDK2AP1 (cyclin dependent kinase 2 associated protein 1)

Identity

Alias_namesCDK2-associated protein 1
Alias_symbol (synonym)DORC1
doc-1
DOC1
ST19
p12DOC-1
Other alias
HGNC (Hugo) CDK2AP1
LocusID (NCBI) 8099
Atlas_Id 40032
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123260970 and ends at 123272140 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)
CDK2AP1 (12q24.31) / CDK2AP1 (12q24.31)KMT5A (12q24.31) / CDK2AP1 (12q24.31)

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) [ 1 ]
  t(12;12)(p13;q24) ETV6/CDK2AP1

External links

Nomenclature
HGNC (Hugo)CDK2AP1   14002
Cards
Entrez_Gene (NCBI)CDK2AP1  8099  cyclin dependent kinase 2 associated protein 1
AliasesDOC1; DORC1; ST19; doc-1; 
p12DOC-1
GeneCards (Weizmann)CDK2AP1
Ensembl hg19 (Hinxton)ENSG00000111328 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111328 [Gene_View]  ENSG00000111328 [Sequence]  chr12:123260970-123272140 [Contig_View]  CDK2AP1 [Vega]
ICGC DataPortalENSG00000111328
TCGA cBioPortalCDK2AP1
AceView (NCBI)CDK2AP1
Genatlas (Paris)CDK2AP1
WikiGenes8099
SOURCE (Princeton)CDK2AP1
Genetics Home Reference (NIH)CDK2AP1
Genomic and cartography
GoldenPath hg38 (UCSC)CDK2AP1  -     chr12:123260970-123272140 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDK2AP1  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblCDK2AP1 - 12q24.31 [CytoView hg19]  CDK2AP1 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBICDK2AP1 [Mapview hg19]  CDK2AP1 [Mapview hg38]
OMIM602198   
Gene and transcription
Genbank (Entrez)AA295789 AA477326 AB006077 AF006484 AI139790
RefSeq transcript (Entrez)NM_001270433 NM_001270434 NM_004642
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDK2AP1
Cluster EST : UnigeneHs.433201 [ NCBI ]
CGAP (NCI)Hs.433201
Alternative Splicing GalleryENSG00000111328
Gene ExpressionCDK2AP1 [ NCBI-GEO ]   CDK2AP1 [ EBI - ARRAY_EXPRESS ]   CDK2AP1 [ SEEK ]   CDK2AP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK2AP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8099
GTEX Portal (Tissue expression)CDK2AP1
Human Protein AtlasENSG00000111328-CDK2AP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14519   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14519  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14519
Splice isoforms : SwissVarO14519
PhosPhoSitePlusO14519
Domains : Interpro (EBI)DOC_1/2   
Domain families : Pfam (Sanger)CDK2AP (PF09806)   
Domain families : Pfam (NCBI)pfam09806   
Conserved Domain (NCBI)CDK2AP1
DMDM Disease mutations8099
Blocks (Seattle)CDK2AP1
PDB (RSDB)2KW6   
PDB Europe2KW6   
PDB (PDBSum)2KW6   
PDB (IMB)2KW6   
Structural Biology KnowledgeBase2KW6   
SCOP (Structural Classification of Proteins)2KW6   
CATH (Classification of proteins structures)2KW6   
SuperfamilyO14519
Human Protein Atlas [tissue]ENSG00000111328-CDK2AP1 [tissue]
Peptide AtlasO14519
HPRD03726
IPIIPI00022340   IPI00792446   IPI01011158   
Protein Interaction databases
DIP (DOE-UCLA)O14519
IntAct (EBI)O14519
FunCoupENSG00000111328
BioGRIDCDK2AP1
STRING (EMBL)CDK2AP1
ZODIACCDK2AP1
Ontologies - Pathways
QuickGOO14519
Ontology : AmiGOpositive regulation of protein phosphorylation  protein binding  nucleus  nucleoplasm  cytosol  DNA-dependent DNA replication  cell cycle  perinuclear region of cytoplasm  DNA polymerase binding  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  protein binding  nucleus  nucleoplasm  cytosol  DNA-dependent DNA replication  cell cycle  perinuclear region of cytoplasm  DNA polymerase binding  
NDEx NetworkCDK2AP1
Atlas of Cancer Signalling NetworkCDK2AP1
Wikipedia pathwaysCDK2AP1
Orthology - Evolution
OrthoDB8099
GeneTree (enSembl)ENSG00000111328
Phylogenetic Trees/Animal Genes : TreeFamCDK2AP1
HOGENOMO14519
Homologs : HomoloGeneCDK2AP1
Homology/Alignments : Family Browser (UCSC)CDK2AP1
Gene fusions - Rearrangements
Fusion : QuiverCDK2AP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK2AP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDK2AP1
dbVarCDK2AP1
ClinVarCDK2AP1
1000_GenomesCDK2AP1 
Exome Variant ServerCDK2AP1
ExAC (Exome Aggregation Consortium)ENSG00000111328
GNOMAD BrowserENSG00000111328
Varsome BrowserCDK2AP1
Genetic variants : HAPMAP8099
Genomic Variants (DGV)CDK2AP1 [DGVbeta]
DECIPHERCDK2AP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDK2AP1 
Mutations
ICGC Data PortalCDK2AP1 
TCGA Data PortalCDK2AP1 
Broad Tumor PortalCDK2AP1
OASIS PortalCDK2AP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDK2AP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDK2AP1
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 CDK2AP1
DgiDB (Drug Gene Interaction Database)CDK2AP1
DoCM (Curated mutations)CDK2AP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDK2AP1 (select a term)
intoGenCDK2AP1
Cancer3DCDK2AP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602198   
Orphanet
DisGeNETCDK2AP1
MedgenCDK2AP1
Genetic Testing Registry CDK2AP1
NextProtO14519 [Medical]
TSGene8099
GENETestsCDK2AP1
Target ValidationCDK2AP1
Huge Navigator CDK2AP1 [HugePedia]
snp3D : Map Gene to Disease8099
BioCentury BCIQCDK2AP1
ClinGenCDK2AP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8099
Chemical/Pharm GKB GenePA26308
Clinical trialCDK2AP1
Miscellaneous
canSAR (ICR)CDK2AP1 (select the gene name)
DataMed IndexCDK2AP1
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDK2AP1
EVEXCDK2AP1
GoPubMedCDK2AP1
iHOPCDK2AP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:05:41 CET 2019
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