Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDKN1C (cyclin dependent kinase inhibitor 1C)

Identity

Alias (NCBI)BWCR
BWS
KIP2
WBS
p57
p57Kip2
HGNC (Hugo) CDKN1C
HGNC Alias symbP57
KIP2
HGNC Previous nameBWCR
 BWS
HGNC Previous nameBeckwith-Wiedemann syndrome
 cyclin-dependent kinase inhibitor 1C (p57, Kip2)
LocusID (NCBI) 1028
Atlas_Id 306
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 2883218 and ends at 2885775 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)
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    cyclin dependent kinase inhibitor 1C
AliasesBWCR; BWS; KIP2; WBS; 
p57; p57Kip2
GeneCards (Weizmann)CDKN1C
Ensembl hg19 (Hinxton)ENSG00000129757 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129757 [Gene_View]  ENSG00000129757 [Sequence]  chr11:2883218-2885775 [Contig_View]  CDKN1C [Vega]
ICGC DataPortalENSG00000129757
TCGA cBioPortalCDKN1C
AceView (NCBI)CDKN1C
Genatlas (Paris)CDKN1C
SOURCE (Princeton)CDKN1C
Genetics Home Reference (NIH)CDKN1C
Genomic and cartography
GoldenPath hg38 (UCSC)CDKN1C  -     chr11:2883218-2885775 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDKN1C  -     11p15.4   [Description]    (hg19-Feb_2009)
GoldenPathCDKN1C - 11p15.4 [CytoView hg19]  CDKN1C - 11p15.4 [CytoView hg38]
ImmunoBaseENSG00000129757
genome Data Viewer NCBICDKN1C [Mapview hg19]  
OMIM130650   600856   614732   
Gene and transcription
Genbank (Entrez)BC039188 BC067842 BM673714 CD676249 EU570054
RefSeq transcript (Entrez)NM_000076 NM_001122630 NM_001122631 NM_001362474 NM_001362475
RefSeq genomic (Entrez)NC_000011 NG_008022 NT_187585
Consensus coding sequences : CCDS (NCBI)CDKN1C
Alternative Splicing GalleryENSG00000129757
Gene ExpressionCDKN1C [ NCBI-GEO ]   CDKN1C [ EBI - ARRAY_EXPRESS ]   CDKN1C [ SEEK ]   CDKN1C [ MEM ]
Gene Expression Viewer (FireBrowse)CDKN1C [ Firebrowse - Broad ]
GenevisibleExpression of CDKN1C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1028
GTEX Portal (Tissue expression)CDKN1C
Human Protein AtlasENSG00000129757-CDKN1C [pathology]   [cell]   [tissue]
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
Blocks (Seattle)CDKN1C
SuperfamilyP49918
Human Protein Atlas [tissue]ENSG00000129757-CDKN1C [tissue]
Peptide AtlasP49918
HPRD02913
IPIIPI00029086   IPI00216615   IPI00893540   IPI00658048   
Protein Interaction databases
DIP (DOE-UCLA)P49918
IntAct (EBI)P49918
BioGRIDCDKN1C
STRING (EMBL)CDKN1C
ZODIACCDKN1C
Ontologies - Pathways
QuickGOP49918
Ontology : AmiGOprotein kinase inhibitor activity  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  cytoplasm  cell cycle arrest  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  negative regulation of phosphorylation  negative regulation of phosphorylation  protein-containing complex binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of mitotic cell cycle  negative regulation of epithelial cell proliferation  negative regulation of cyclin-dependent protein kinase activity  
Ontology : EGO-EBIprotein kinase inhibitor activity  cyclin-dependent protein serine/threonine kinase inhibitor activity  protein binding  nucleus  cytoplasm  cell cycle arrest  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of kinase activity  negative regulation of phosphorylation  negative regulation of phosphorylation  protein-containing complex binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of mitotic cell cycle  negative regulation of epithelial cell proliferation  negative regulation of cyclin-dependent protein 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
HOGENOMP49918
Homologs : HomoloGeneCDKN1C
Homology/Alignments : Family Browser (UCSC)CDKN1C
Gene fusions - Rearrangements
Fusion : QuiverCDKN1C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDKN1C [hg38]
dbVarCDKN1C
ClinVarCDKN1C
MonarchCDKN1C
1000_GenomesCDKN1C 
Exome Variant ServerCDKN1C
GNOMAD BrowserENSG00000129757
Varsome BrowserCDKN1C
Genomic Variants (DGV)CDKN1C [DGVbeta]
DECIPHERCDKN1C [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCDKN1C
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130650    600856    614732   
Orphanet19156    22683    23327    11640   
DisGeNETCDKN1C
MedgenCDKN1C
Genetic Testing Registry CDKN1C
NextProtP49918 [Medical]
GENETestsCDKN1C
Target ValidationCDKN1C
Huge Navigator CDKN1C [HugePedia]
ClinGenCDKN1C (curated)
Clinical trials, drugs, therapy
MyCancerGenomeCDKN1C
Protein Interactions : CTD
Pharm GKB GenePA26320
PharosP49918
Clinical trialCDKN1C
Miscellaneous
canSAR (ICR)CDKN1C (select the gene name)
HarmonizomeCDKN1C
DataMed IndexCDKN1C
Probes
Litterature
PubMed215 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCDKN1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:09:28 CET 2021
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