Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2))

Identity

Other namesBWCR
BWS
KIP2
WBS
p57
p57Kip2
HGNC (Hugo) CDKN1C
LocusID (NCBI) 1028
Location 11p15.4
Location_base_pair Starts at 2904448 and ends at 2906995 bp from pter ( according to hg19-Feb_2009)
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)CDKN1C   1786
Cards
Entrez_Gene (NCBI)CDKN1C  1028  cyclin-dependent kinase inhibitor 1C (p57, Kip2)
GeneCards (Weizmann)CDKN1C
Ensembl (Hinxton)ENSG00000129757 [Gene_View]  chr11:2904448-2906995 [Contig_View]  CDKN1C [Vega]
ICGC DataPortalENSG00000129757
cBioPortalCDKN1C
AceView (NCBI)CDKN1C
Genatlas (Paris)CDKN1C
WikiGenes1028
SOURCE (Princeton)NM_000076 NM_001122630 NM_001122631
Genomic and cartography
GoldenPath (UCSC)CDKN1C  -  11p15.4   chr11:2904448-2906995 -  11p15.4   [Description]    (hg19-Feb_2009)
EnsemblCDKN1C - 11p15.4 [CytoView]
Mapping of homologs : NCBICDKN1C [Mapview]
OMIM130650   600856   614732   
Gene and transcription
Genbank (Entrez)BC039188 BC067842 BM673714 CD676249 U22398
RefSeq transcript (Entrez)NM_000076 NM_001122630 NM_001122631
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_008022 NT_009237 NW_001838018 NW_004929378
Consensus coding sequences : CCDS (NCBI)CDKN1C
Cluster EST : UnigeneHs.106070 [ NCBI ]
CGAP (NCI)Hs.106070
Alternative Splicing : Fast-db (Paris)GSHG0005479
Alternative Splicing GalleryENSG00000129757
Gene ExpressionCDKN1C [ NCBI-GEO ]     CDKN1C [ SEEK ]   CDKN1C [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49918 (Uniprot)
NextProtP49918  [Medical]
With graphics : InterProP49918
Splice isoforms : SwissVarP49918 (Swissvar)
Domains : Interpro (EBI)CDI [organisation]  
Related proteins : CluSTrP49918
Domain families : Pfam (Sanger)CDI (PF02234)   
Domain families : Pfam (NCBI)pfam02234   
DMDM Disease mutations1028
Blocks (Seattle)P49918
Human Protein AtlasENSG00000129757 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP49918
HPRD02913
IPIIPI00029086   IPI00216615   IPI00893540   IPI00658048   
Protein Interaction databases
DIP (DOE-UCLA)P49918
IntAct (EBI)P49918
FunCoupENSG00000129757
BioGRIDCDKN1C
InParanoidP49918
Interologous Interaction database P49918
IntegromeDBCDKN1C
STRING (EMBL)CDKN1C
Ontologies - Pathways
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  mitotic G1 phase  negative regulation of transcription from RNA polymerase II promoter  placenta development  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  nucleolus  cytoplasm  cell cycle arrest  negative regulation of cell proliferation  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  negative regulation of phosphorylation  neuron maturation  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  negative regulation of epithelial cell proliferation  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  mitotic G1 phase  negative regulation of transcription from RNA polymerase II promoter  placenta development  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  nucleolus  cytoplasm  cell cycle arrest  negative regulation of cell proliferation  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  negative regulation of phosphorylation  neuron maturation  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  negative regulation of epithelial cell proliferation  
Pathways : KEGGCell cycle   
Protein Interaction DatabaseCDKN1C
Wikipedia pathwaysCDKN1C
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CDKN1C
snp3D : Map Gene to Disease1028
SNP (GeneSNP Utah)CDKN1C
SNP : HGBaseCDKN1C
Genetic variants : HAPMAPCDKN1C
Exome VariantCDKN1C
1000_GenomesCDKN1C 
ICGC programENSG00000129757 
Somatic Mutations in Cancer : COSMICCDKN1C 
CONAN: Copy Number AnalysisCDKN1C 
Mutations and Diseases : HGMDCDKN1C
Genomic VariantsCDKN1C  CDKN1C [DGVbeta]
dbVarCDKN1C
ClinVarCDKN1C
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM130650    600856    614732   
MedgenCDKN1C
GENETestsCDKN1C
Disease Genetic AssociationCDKN1C
Huge Navigator CDKN1C [HugePedia]  CDKN1C [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCDKN1C
Homology/Alignments : Family Browser (UCSC)CDKN1C
Phylogenetic Trees/Animal Genes : TreeFamCDKN1C
Chemical/Protein Interactions : CTD1028
Chemical/Pharm GKB GenePA26320
Clinical trialCDKN1C
Cancer Resource (Charite)ENSG00000129757
Other databases
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
CoreMineCDKN1C
iHOPCDKN1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:49:18 CEST 2014
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