Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDK6 (cyclin dependent kinase 6)

Identity

Alias_symbol (synonym)PLSTIRE
Other aliasMCPH12
HGNC (Hugo) CDK6
LocusID (NCBI) 1021
Atlas_Id 321
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 92604921 and ends at 92833950 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)
AHCYL1 (1p13.3) / CDK6 (7q21.2)BICD1 (12p11.21) / CDK6 (7q21.2)CDK6 (7q21.2) / ACHE (7q22.1)
CDK6 (7q21.2) / CDK6 (7q21.2)CDK6 (7q21.2) / HEPACAM2 (7q21.3)CDK6 (7q21.2) / KLC1 (14q32.33)
CDK6 (7q21.2) / KMT2A (11q23.3)CDK6 (7q21.2) / KMT2AT10 ()CDK6 (7q21.2) / MECOM (3q26.2)
CDK6 (7q21.2) / MLLT10 (10p12.31)CDK6 (7q21.2) / SEMA4F (2p13.1)CDK6 (7q21.2) / SLC25A13 (7q21.3)
CDK6 (7q21.2) / SLC25A25 (9q34.11)CDK6 (7q21.2) / STXBP6 (14q12)CDK6 (7q21.2) / TLX3 (5q35.1)
FAM133B (7q21.2) / CDK6 (7q21.2)HOXA11-AS (7p15.2) / CDK6 (7q21.2)IGH (14q32.33) / CDK6 (7q21.2)
IGHG1 (14q32.33) / CDK6 (7q21.2)IGK (14q32.33) / CDK6 (7q21.2)IGL (22q11.22) / CDK6 (7q21.2)
IGLV3-10 () / CDK6 (7q21.2)KMT2A (11q23.3) / CDK6 (7q21.2)MECOM (3q26.2) / CDK6 (7q21.2)
MLLT10 (10p12.31) / CDK6 (7q21.2)RBM6 (3p21.31) / CDK6 (7q21.2)BICD1 12p11.21 / CDK6 7q21.2
CDK6 7q21.2 / HEPACAM2 7q21.3CDK6 7q21.2 / STXBP6 14q12FAM133B 7q21.2 / CDK6 7q21.2

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 17 ]
  del(7q) in non-Hodgkin's lymphoma (NHL)
del(9p) in Acute Lymphoblastic Leukemia
Splenic lymphoma with villous lymphocytes (SLVL)
t(3;7)(q26;q21) MECOM/CDK6
t(3;7)(q26;q21) CDK6/MECOM
t(5;7)(q35;q21) TLX3/CDK6
t(6;14)(p21;q32) IGH/CCND3
t(7;14)(q21;q32) ERVW-1/IgH
t(2;7)(p11;q21) IGK/CDK6::t(7;14)(q21;q32) IGH/CDK6::t(7;22)(q21;q11) IGL/CDK6
t(2;12)(p12;p13) IGK/CCND2::t(12;14)(p13;q32) IGH/CCND2::t(12;22)(p13;q11) IGL/CCND2
T-lineage acute lymphoblastic leukemia (T-ALL)
t(5;7)(q35;q21) CDK6/TLX3
t(7;7)(p15;q21) CDK6/RPL35P4
t(7;7)(p15;q21) HOXA11-AS/CDK6
t(7;7)(q21;q21) FAM133B/CDK6
t(7;11)(q21;q23) CDK6/KMT2A
t(7;14)(q21;q13) CDK6/NKX2-1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Breast tumors : an overview
Gallbladder: Carcinoma of the gallbladder and extrahepatic bile ducts
Gallbladder: Intrahepatic cholangiocarcinoma
t(7;7)(q21;q21) CDK6/HEPACAM2
t(7;7)(q21;q21) FAM133B/CDK6
t(7;12)(q21;p11) BICD1/CDK6

External links

Nomenclature
HGNC (Hugo)CDK6   1777
LRG (Locus Reference Genomic)LRG_991
Cards
Entrez_Gene (NCBI)CDK6  1021  cyclin dependent kinase 6
AliasesMCPH12; PLSTIRE
GeneCards (Weizmann)CDK6
Ensembl hg19 (Hinxton)ENSG00000105810 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105810 [Gene_View]  chr7:92604921-92833950 [Contig_View]  CDK6 [Vega]
ICGC DataPortalENSG00000105810
TCGA cBioPortalCDK6
AceView (NCBI)CDK6
Genatlas (Paris)CDK6
WikiGenes1021
SOURCE (Princeton)CDK6
Genetics Home Reference (NIH)CDK6
Genomic and cartography
GoldenPath hg38 (UCSC)CDK6  -     chr7:92604921-92833950 -  7q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDK6  -     7q21.2   [Description]    (hg19-Feb_2009)
EnsemblCDK6 - 7q21.2 [CytoView hg19]  CDK6 - 7q21.2 [CytoView hg38]
Mapping of homologs : NCBICDK6 [Mapview hg19]  CDK6 [Mapview hg38]
OMIM603368   616080   
Gene and transcription
Genbank (Entrez)AA312213 AB073601 AI023175 AI367890 AI400582
RefSeq transcript (Entrez)NM_001145306 NM_001259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDK6
Cluster EST : UnigeneHs.119882 [ NCBI ]
CGAP (NCI)Hs.119882
Alternative Splicing GalleryENSG00000105810
Gene ExpressionCDK6 [ NCBI-GEO ]   CDK6 [ EBI - ARRAY_EXPRESS ]   CDK6 [ SEEK ]   CDK6 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1021
GTEX Portal (Tissue expression)CDK6
Human Protein AtlasENSG00000105810-CDK6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00534
Splice isoforms : SwissVarQ00534
Catalytic activity : Enzyme2.7.11.22 [ Enzyme-Expasy ]   2.7.11.222.7.11.22 [ IntEnz-EBI ]   2.7.11.22 [ BRENDA ]   2.7.11.22 [ KEGG ]   
PhosPhoSitePlusQ00534
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)CDK6    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)CDK6
DMDM Disease mutations1021
Blocks (Seattle)CDK6
PDB (SRS)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
PDB (PDBSum)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
PDB (IMB)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
PDB (RSDB)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
Structural Biology KnowledgeBase1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
SCOP (Structural Classification of Proteins)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
CATH (Classification of proteins structures)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T   
SuperfamilyQ00534
Human Protein Atlas [tissue]ENSG00000105810-CDK6 [tissue]
Peptide AtlasQ00534
HPRD04533
IPIIPI00023529   
Protein Interaction databases
DIP (DOE-UCLA)Q00534
IntAct (EBI)Q00534
FunCoupENSG00000105810
BioGRIDCDK6
STRING (EMBL)CDK6
ZODIACCDK6
Ontologies - Pathways
QuickGOQ00534
Ontology : AmiGOG1/S transition of mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  ruffle  positive regulation of cell-matrix adhesion  type B pancreatic cell development  cyclin-dependent protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  protein phosphorylation  cell cycle arrest  signal transduction  negative regulation of cell proliferation  response to virus  regulation of G2/M transition of mitotic cell cycle  regulation of gene expression  regulation of gene expression  astrocyte development  dentate gyrus development  lateral ventricle development  cyclin binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle  gliogenesis  cell dedifferentiation  negative regulation of cell differentiation  negative regulation of myeloid cell differentiation  regulation of erythrocyte differentiation  negative regulation of monocyte differentiation  negative regulation of osteoblast differentiation  negative regulation of cell cycle  positive regulation of fibroblast proliferation  generation of neurons  negative regulation of epithelial cell proliferation  cell division  FBXO family protein binding  cellular response to phorbol 13-acetate 12-myristate  regulation of cell motility  negative regulation of cellular senescence  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  ruffle  positive regulation of cell-matrix adhesion  type B pancreatic cell development  cyclin-dependent protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  protein phosphorylation  cell cycle arrest  signal transduction  negative regulation of cell proliferation  response to virus  regulation of G2/M transition of mitotic cell cycle  regulation of gene expression  regulation of gene expression  astrocyte development  dentate gyrus development  lateral ventricle development  cyclin binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle  gliogenesis  cell dedifferentiation  negative regulation of cell differentiation  negative regulation of myeloid cell differentiation  regulation of erythrocyte differentiation  negative regulation of monocyte differentiation  negative regulation of osteoblast differentiation  negative regulation of cell cycle  positive regulation of fibroblast proliferation  generation of neurons  negative regulation of epithelial cell proliferation  cell division  FBXO family protein binding  cellular response to phorbol 13-acetate 12-myristate  regulation of cell motility  negative regulation of cellular senescence  
Pathways : BIOCARTAInfluence of Ras and Rho proteins on G1 to S Transition [Genes]    Cell Cycle: G1/S Check Point [Genes]    Estrogen-responsive protein Efp controls cell cycle and breast tumors growth [Genes]    Cyclins and Cell Cycle Regulation [Genes]   
Pathways : KEGGCell cycle   
NDEx NetworkCDK6
Atlas of Cancer Signalling NetworkCDK6
Wikipedia pathwaysCDK6
Orthology - Evolution
OrthoDB1021
GeneTree (enSembl)ENSG00000105810
Phylogenetic Trees/Animal Genes : TreeFamCDK6
HOVERGENQ00534
HOGENOMQ00534
Homologs : HomoloGeneCDK6
Homology/Alignments : Family Browser (UCSC)CDK6
Gene fusions - Rearrangements
Fusion : MitelmanBICD1/CDK6 [12p11.21/7q21.2]  [t(7;12)(q21;p11)]  
Fusion : MitelmanCDK6/HEPACAM2 [7q21.2/7q21.3]  [t(7;7)(q21;q21)]  
Fusion : MitelmanCDK6/RPL35P4 [7q21.2/-]  [t(7;7)(p15;q21)]  
Fusion : MitelmanCDK6/STXBP6 [7q21.2/14q12]  [t(7;14)(q21;q12)]  
Fusion : MitelmanFAM133B/CDK6 [7q21.2/7q21.2]  [t(7;7)(q21;q21)]  
Fusion : MitelmanHOXA11-AS/CDK6 [7p15.2/7q21.2]  [t(7;7)(p15;q21)]  
Fusion : MitelmanIGH/CDK6 [14q32.33/7q21.2]  [t(7;14)(q21;q32)]  
Fusion : MitelmanIGK/CDK6 [2p11.2/7q21.2]  [t(2;7)(p11;q21)]  
Fusion : MitelmanIGL/CDK6 [22q11.22/7q21.2]  [t(7;22)(q21;q11)]  
Fusion : MitelmanMECOM/CDK6 [3q26.2/7q21.2]  [t(3;7)(q26;q21)]  
Fusion: TCGA_MDACCBICD1 12p11.21 CDK6 7q21.2 LUAD
Fusion: TCGA_MDACCCDK6 7q21.2 HEPACAM2 7q21.3 BLCA
Fusion: TCGA_MDACCCDK6 7q21.2 STXBP6 14q12 LUAD
Fusion: TCGA_MDACCFAM133B 7q21.2 CDK6 7q21.2 LUAD
Fusion PortalBICD1 12p11.21 CDK6 7q21.2 LUAD
Fusion PortalCDK6 7q21.2 HEPACAM2 7q21.3 BLCA
Fusion PortalCDK6 7q21.2 STXBP6 14q12 LUAD
Fusion PortalFAM133B 7q21.2 CDK6 7q21.2 LUAD
Fusion : QuiverCDK6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDK6
dbVarCDK6
ClinVarCDK6
1000_GenomesCDK6 
Exome Variant ServerCDK6
ExAC (Exome Aggregation Consortium)ENSG00000105810
GNOMAD BrowserENSG00000105810
Genetic variants : HAPMAP1021
Genomic Variants (DGV)CDK6 [DGVbeta]
DECIPHERCDK6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDK6 
Mutations
ICGC Data PortalCDK6 
TCGA Data PortalCDK6 
Broad Tumor PortalCDK6
OASIS PortalCDK6 [ Somatic mutations - Copy number]
Cancer Gene: CensusCDK6 
Somatic Mutations in Cancer : COSMICCDK6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDK6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDK6
DgiDB (Drug Gene Interaction Database)CDK6
DoCM (Curated mutations)CDK6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDK6 (select a term)
intoGenCDK6
Cancer3DCDK6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603368    616080   
Orphanet732   
DisGeNETCDK6
MedgenCDK6
Genetic Testing Registry CDK6
NextProtQ00534 [Medical]
TSGene1021
GENETestsCDK6
Target ValidationCDK6
Huge Navigator CDK6 [HugePedia]
snp3D : Map Gene to Disease1021
BioCentury BCIQCDK6
ClinGenCDK6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1021
Chemical/Pharm GKB GenePA103
Drug Sensitivity CDK6
Clinical trialCDK6
Miscellaneous
canSAR (ICR)CDK6 (select the gene name)
Probes
Litterature
PubMed284 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDK6
EVEXCDK6
GoPubMedCDK6
iHOPCDK6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:05:38 CET 2018
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