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CDKN1C (cyclin-dependent kinase inhibitor 1C)

Identity

Alias_namesBWCR
BWS
Beckwith-Wiedemann syndrome
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
Alias_symbol (synonym)P57
KIP2
HGNC (Hugo) CDKN1C
LocusID (NCBI) 1028
Atlas_Id 306
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 2904448 and ends at 2906995 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDKN1C (11p15.4) / PLXDC2 (10p12.31)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Neuro-Endocrine/Endocrine System: Adrenal cortical carcinoma
Soft Tissues: Embryonal rhabdomyosarcoma
Soft tissue tumors: an overview


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Beckwith-Wiedemann syndrome


External links

Nomenclature
HGNC (Hugo)CDKN1C   1786
LRG (Locus Reference Genomic)LRG_533
Cards
Entrez_Gene (NCBI)CDKN1C  1028  cyclin-dependent kinase inhibitor 1C
AliasesBWCR; BWS; KIP2; WBS; 
p57; p57Kip2
GeneCards (Weizmann)CDKN1C
Ensembl hg19 (Hinxton)ENSG00000129757 [Gene_View]  chr11:2904448-2906995 [Contig_View]  CDKN1C [Vega]
Ensembl hg38 (Hinxton)ENSG00000129757 [Gene_View]  chr11:2904448-2906995 [Contig_View]  CDKN1C [Vega]
ICGC DataPortalENSG00000129757
TCGA cBioPortalCDKN1C
AceView (NCBI)CDKN1C
Genatlas (Paris)CDKN1C
WikiGenes1028
SOURCE (Princeton)CDKN1C
Genetics Home Reference (NIH)CDKN1C
Genomic and cartography
GoldenPath hg19 (UCSC)CDKN1C  -     chr11:2904448-2906995 -  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CDKN1C  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblCDKN1C - 11p15.4 [CytoView hg19]  CDKN1C - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBICDKN1C [Mapview hg19]  CDKN1C [Mapview hg38]
OMIM130650   600856   614732   
Gene and transcription
Genbank (Entrez)BC039188 BC067842 BM673714 CD676249 EU570054
RefSeq transcript (Entrez)NM_000076 NM_001122630 NM_001122631
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008022 NT_009237 NT_187585 NW_004929378
Consensus coding sequences : CCDS (NCBI)CDKN1C
Cluster EST : UnigeneHs.106070 [ NCBI ]
CGAP (NCI)Hs.106070
Alternative Splicing GalleryENSG00000129757
Gene ExpressionCDKN1C [ NCBI-GEO ]   CDKN1C [ EBI - ARRAY_EXPRESS ]   CDKN1C [ SEEK ]   CDKN1C [ MEM ]
Gene Expression Viewer (FireBrowse)CDKN1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1028
GTEX Portal (Tissue expression)CDKN1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49918   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49918  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49918
Splice isoforms : SwissVarP49918
PhosPhoSitePlusP49918
Domains : Interpro (EBI)CDI    CDKN1C   
Domain families : Pfam (Sanger)CDI (PF02234)   
Domain families : Pfam (NCBI)pfam02234   
Conserved Domain (NCBI)CDKN1C
DMDM Disease mutations1028
Blocks (Seattle)CDKN1C
SuperfamilyP49918
Human Protein AtlasENSG00000129757
Peptide AtlasP49918
HPRD02913
IPIIPI00029086   IPI00216615   IPI00893540   IPI00658048   
Protein Interaction databases
DIP (DOE-UCLA)P49918
IntAct (EBI)P49918
FunCoupENSG00000129757
BioGRIDCDKN1C
STRING (EMBL)CDKN1C
ZODIACCDKN1C
Ontologies - Pathways
QuickGOP49918
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  skeletal system development  kidney development  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  cytoplasm  cell cycle arrest  regulation of mitotic cell cycle  aging  myeloid cell differentiation  adrenal gland development  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  multicellular organism growth  negative regulation of phosphorylation  neuron maturation  camera-type eye development  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of epithelial cell proliferation  digestive system development  uterus development  embryonic placenta morphogenesis  genetic imprinting  negative regulation of protein serine/threonine kinase activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  skeletal system development  kidney development  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  cytoplasm  cell cycle arrest  regulation of mitotic cell cycle  aging  myeloid cell differentiation  adrenal gland development  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  multicellular organism growth  negative regulation of phosphorylation  neuron maturation  camera-type eye development  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of epithelial cell proliferation  digestive system development  uterus development  embryonic placenta morphogenesis  genetic imprinting  negative regulation of protein serine/threonine kinase activity  
Pathways : KEGGCell cycle   
NDEx NetworkCDKN1C
Atlas of Cancer Signalling NetworkCDKN1C
Wikipedia pathwaysCDKN1C
Orthology - Evolution
OrthoDB1028
GeneTree (enSembl)ENSG00000129757
Phylogenetic Trees/Animal Genes : TreeFamCDKN1C
HOVERGENP49918
HOGENOMP49918
Homologs : HomoloGeneCDKN1C
Homology/Alignments : Family Browser (UCSC)CDKN1C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDKN1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDKN1C
dbVarCDKN1C
ClinVarCDKN1C
1000_GenomesCDKN1C 
Exome Variant ServerCDKN1C
ExAC (Exome Aggregation Consortium)CDKN1C (select the gene name)
Genetic variants : HAPMAP1028
Genomic Variants (DGV)CDKN1C [DGVbeta]
DECIPHER (Syndromes)11:2904448-2906995  ENSG00000129757
CONAN: Copy Number AnalysisCDKN1C 
Mutations
ICGC Data PortalCDKN1C 
TCGA Data PortalCDKN1C 
Broad Tumor PortalCDKN1C
OASIS PortalCDKN1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDKN1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDKN1C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDKN1C
DgiDB (Drug Gene Interaction Database)CDKN1C
DoCM (Curated mutations)CDKN1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDKN1C (select a term)
intoGenCDKN1C
Cancer3DCDKN1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130650    600856    614732   
Orphanet19156    22683    23327    11640   
MedgenCDKN1C
Genetic Testing Registry CDKN1C
NextProtP49918 [Medical]
TSGene1028
GENETestsCDKN1C
Huge Navigator CDKN1C [HugePedia]
snp3D : Map Gene to Disease1028
BioCentury BCIQCDKN1C
ClinGenCDKN1C (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1028
Chemical/Pharm GKB GenePA26320
Clinical trialCDKN1C
Miscellaneous
canSAR (ICR)CDKN1C (select the gene name)
Probes
Litterature
PubMed166 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDKN1C
EVEXCDKN1C
GoPubMedCDKN1C
iHOPCDKN1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:33:36 CET 2016

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