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CEP250 (centrosomal protein 250)

Identity

Alias_namesCEP2
centrosomal protein 2
centrosomal protein 250kDa
Alias_symbol (synonym)C-NAP1
Other aliasCNAP1
CRDHL2
HGNC (Hugo) CEP250
LocusID (NCBI) 11190
Atlas_Id 54212
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35455402 and ends at 35511975 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)
CEP250 (20q11.22) / DPM1 (20q13.13)CEP250 (20q11.22) / POLR2A (17p13.1)ENPEP (4q25) / CEP250 (20q11.22)
ZMYND8 (20q13.12) / CEP250 (20q11.22)ZNF362 (1p35.1) / CEP250 (20q11.22)

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 ]

Solid Tumors TranslocLungSmallCellCarcID6651 TT_inv20q11q13ID6749 TT_t2020q11q13ID104671

External links

Nomenclature
HGNC (Hugo)CEP250   1859
Cards
Entrez_Gene (NCBI)CEP250  11190  centrosomal protein 250
AliasesC-NAP1; CEP2; CNAP1; CRDHL2
GeneCards (Weizmann)CEP250
Ensembl hg19 (Hinxton)ENSG00000126001 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126001 [Gene_View]  ENSG00000126001 [Sequence]  chr20:35455402-35511975 [Contig_View]  CEP250 [Vega]
ICGC DataPortalENSG00000126001
TCGA cBioPortalCEP250
AceView (NCBI)CEP250
Genatlas (Paris)CEP250
WikiGenes11190
SOURCE (Princeton)CEP250
Genetics Home Reference (NIH)CEP250
Genomic and cartography
GoldenPath hg38 (UCSC)CEP250  -     chr20:35455402-35511975 +  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP250  -     20q11.22   [Description]    (hg19-Feb_2009)
GoldenPathCEP250 - 20q11.22 [CytoView hg19]  CEP250 - 20q11.22 [CytoView hg38]
ImmunoBaseENSG00000126001
Mapping of homologs : NCBICEP250 [Mapview hg19]  CEP250 [Mapview hg38]
OMIM609689   618358   
Gene and transcription
Genbank (Entrez)AB621828 AF022655 AF049105 AK297572 AK307861
RefSeq transcript (Entrez)NM_001035518 NM_001318219 NM_007186
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP250
Cluster EST : UnigeneHs.443976 [ NCBI ]
CGAP (NCI)Hs.443976
Alternative Splicing GalleryENSG00000126001
Gene ExpressionCEP250 [ NCBI-GEO ]   CEP250 [ EBI - ARRAY_EXPRESS ]   CEP250 [ SEEK ]   CEP250 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP250 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11190
GTEX Portal (Tissue expression)CEP250
Human Protein AtlasENSG00000126001-CEP250 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BV73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BV73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BV73
Splice isoforms : SwissVarQ9BV73
PhosPhoSitePlusQ9BV73
Domains : Interpro (EBI)CEP250   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CEP250
DMDM Disease mutations11190
Blocks (Seattle)CEP250
SuperfamilyQ9BV73
Human Protein Atlas [tissue]ENSG00000126001-CEP250 [tissue]
Peptide AtlasQ9BV73
HPRD09877
IPIIPI00160622   IPI00292871   IPI00852627   IPI00916490   IPI00852700   IPI00411661   IPI00893748   IPI00916673   IPI00945119   
Protein Interaction databases
DIP (DOE-UCLA)Q9BV73
IntAct (EBI)Q9BV73
FunCoupENSG00000126001
BioGRIDCEP250
STRING (EMBL)CEP250
ZODIACCEP250
Ontologies - Pathways
QuickGOQ9BV73
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  centrosome  centriole  centriole  microtubule organizing center  cytosol  protein C-terminus binding  protein localization  regulation of G2/M transition of mitotic cell cycle  centriole-centriole cohesion  protein kinase binding  protein domain specific binding  regulation of centriole-centriole cohesion  protein-containing complex  protein localization to organelle  ciliary basal body  perinuclear region of cytoplasm  detection of light stimulus involved in visual perception  cilium assembly  extracellular exosome  ciliary basal body-plasma membrane docking  positive regulation of protein localization to centrosome  non-motile cilium assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  centrosome  centriole  centriole  microtubule organizing center  cytosol  protein C-terminus binding  protein localization  regulation of G2/M transition of mitotic cell cycle  centriole-centriole cohesion  protein kinase binding  protein domain specific binding  regulation of centriole-centriole cohesion  protein-containing complex  protein localization to organelle  ciliary basal body  perinuclear region of cytoplasm  detection of light stimulus involved in visual perception  cilium assembly  extracellular exosome  ciliary basal body-plasma membrane docking  positive regulation of protein localization to centrosome  non-motile cilium assembly  
NDEx NetworkCEP250
Atlas of Cancer Signalling NetworkCEP250
Wikipedia pathwaysCEP250
Orthology - Evolution
OrthoDB11190
GeneTree (enSembl)ENSG00000126001
Phylogenetic Trees/Animal Genes : TreeFamCEP250
HOGENOMQ9BV73
Homologs : HomoloGeneCEP250
Homology/Alignments : Family Browser (UCSC)CEP250
Gene fusions - Rearrangements
Fusion : MitelmanCEP250/DPM1 [20q11.22/20q13.13]  
Fusion : MitelmanZMYND8/CEP250 [20q13.12/20q11.22]  [t(20;20)(q11;q13)]  
Fusion : QuiverCEP250
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP250 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP250
dbVarCEP250
ClinVarCEP250
1000_GenomesCEP250 
Exome Variant ServerCEP250
ExAC (Exome Aggregation Consortium)ENSG00000126001
GNOMAD BrowserENSG00000126001
Varsome BrowserCEP250
Genetic variants : HAPMAP11190
Genomic Variants (DGV)CEP250 [DGVbeta]
DECIPHERCEP250 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP250 
Mutations
ICGC Data PortalCEP250 
TCGA Data PortalCEP250 
Broad Tumor PortalCEP250
OASIS PortalCEP250 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP250  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEP250
Mutations and Diseases : HGMDCEP250
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 CEP250
DgiDB (Drug Gene Interaction Database)CEP250
DoCM (Curated mutations)CEP250 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP250 (select a term)
intoGenCEP250
Cancer3DCEP250(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609689    618358   
Orphanet
DisGeNETCEP250
MedgenCEP250
Genetic Testing Registry CEP250
NextProtQ9BV73 [Medical]
TSGene11190
GENETestsCEP250
Target ValidationCEP250
Huge Navigator CEP250 [HugePedia]
snp3D : Map Gene to Disease11190
BioCentury BCIQCEP250
ClinGenCEP250
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11190
Chemical/Pharm GKB GenePA26415
Clinical trialCEP250
Miscellaneous
canSAR (ICR)CEP250 (select the gene name)
DataMed IndexCEP250
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP250
EVEXCEP250
GoPubMedCEP250
iHOPCEP250
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 15:28:31 CEST 2019
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