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CEP290 (centrosomal protein 290)

Identity

Alias_namescentrosomal protein 290kDa
Alias_symbol (synonym)KIAA0373
FLJ13615
3H11Ag
rd16
NPHP6
JBTS5
SLSN6
LCA10
MKS4
BBS14
CT87
POC3
Other alias
HGNC (Hugo) CEP290
LocusID (NCBI) 80184
Atlas_Id 61722
Location 12q21.32  [Link to chromosome band 12q21]
Location_base_pair Starts at 88049013 and ends at 88142216 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PRKDC (8q11.21) / CEP290 (12q21.32)

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)CEP290   29021
LRG (Locus Reference Genomic)LRG_694
Cards
Entrez_Gene (NCBI)CEP290  80184  centrosomal protein 290
Aliases3H11Ag; BBS14; CT87; JBTS5; 
LCA10; MKS4; NPHP6; POC3; SLSN6; rd16
GeneCards (Weizmann)CEP290
Ensembl hg19 (Hinxton)ENSG00000198707 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198707 [Gene_View]  chr12:88049013-88142216 [Contig_View]  CEP290 [Vega]
ICGC DataPortalENSG00000198707
TCGA cBioPortalCEP290
AceView (NCBI)CEP290
Genatlas (Paris)CEP290
WikiGenes80184
SOURCE (Princeton)CEP290
Genetics Home Reference (NIH)CEP290
Genomic and cartography
GoldenPath hg38 (UCSC)CEP290  -     chr12:88049013-88142216 -  12q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP290  -     12q21.32   [Description]    (hg19-Feb_2009)
EnsemblCEP290 - 12q21.32 [CytoView hg19]  CEP290 - 12q21.32 [CytoView hg38]
Mapping of homologs : NCBICEP290 [Mapview hg19]  CEP290 [Mapview hg38]
OMIM610142   610188   610189   611134   611755   615991   
Gene and transcription
Genbank (Entrez)AB002371 AF273044 AF317887 AK023677 AK025632
RefSeq transcript (Entrez)NM_025114
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP290
Cluster EST : UnigeneHs.150444 [ NCBI ]
CGAP (NCI)Hs.150444
Alternative Splicing GalleryENSG00000198707
Gene ExpressionCEP290 [ NCBI-GEO ]   CEP290 [ EBI - ARRAY_EXPRESS ]   CEP290 [ SEEK ]   CEP290 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP290 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80184
GTEX Portal (Tissue expression)CEP290
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15078   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15078  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15078
Splice isoforms : SwissVarO15078
PhosPhoSitePlusO15078
Domains : Interpro (EBI)Cep209_CC5    Cep290   
Domain families : Pfam (Sanger)CEP209_CC5 (PF16574)   
Domain families : Pfam (NCBI)pfam16574   
Conserved Domain (NCBI)CEP290
DMDM Disease mutations80184
Blocks (Seattle)CEP290
SuperfamilyO15078
Human Protein AtlasENSG00000198707
Peptide AtlasO15078
HPRD08585
IPIIPI01023013   IPI00794668   IPI01013327   IPI01021155   IPI01022523   IPI01022882   IPI01023020   IPI00784201   IPI01012924   
Protein Interaction databases
DIP (DOE-UCLA)O15078
IntAct (EBI)O15078
FunCoupENSG00000198707
BioGRIDCEP290
STRING (EMBL)CEP290
ZODIACCEP290
Ontologies - Pathways
QuickGOO15078
Ontology : AmiGOG2/M transition of mitotic cell cycle  gamma-tubulin complex  protein binding  extracellular region  nucleus  cytoplasm  centrosome  centrosome  centriole  cytosol  cytosol  protein transport  membrane  hindbrain development  otic vesicle formation  photoreceptor connecting cilium  centriolar satellite  specific granule lumen  ciliary transition zone  MKS complex  ciliary basal body  eye photoreceptor cell development  identical protein binding  protein complex  neutrophil degranulation  positive regulation of transcription, DNA-templated  pronephros development  microtubule minus-end binding  cilium assembly  cilium assembly  regulation of establishment of protein localization  positive regulation of intracellular protein transport  ciliary basal body docking  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  gamma-tubulin complex  protein binding  extracellular region  nucleus  cytoplasm  centrosome  centrosome  centriole  cytosol  cytosol  protein transport  membrane  hindbrain development  otic vesicle formation  photoreceptor connecting cilium  centriolar satellite  specific granule lumen  ciliary transition zone  MKS complex  ciliary basal body  eye photoreceptor cell development  identical protein binding  protein complex  neutrophil degranulation  positive regulation of transcription, DNA-templated  pronephros development  microtubule minus-end binding  cilium assembly  cilium assembly  regulation of establishment of protein localization  positive regulation of intracellular protein transport  ciliary basal body docking  
NDEx NetworkCEP290
Atlas of Cancer Signalling NetworkCEP290
Wikipedia pathwaysCEP290
Orthology - Evolution
OrthoDB80184
GeneTree (enSembl)ENSG00000198707
Phylogenetic Trees/Animal Genes : TreeFamCEP290
HOVERGENO15078
HOGENOMO15078
Homologs : HomoloGeneCEP290
Homology/Alignments : Family Browser (UCSC)CEP290
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP290 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP290
dbVarCEP290
ClinVarCEP290
1000_GenomesCEP290 
Exome Variant ServerCEP290
ExAC (Exome Aggregation Consortium)CEP290 (select the gene name)
Genetic variants : HAPMAP80184
Genomic Variants (DGV)CEP290 [DGVbeta]
DECIPHERCEP290 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP290 
Mutations
ICGC Data PortalCEP290 
TCGA Data PortalCEP290 
Broad Tumor PortalCEP290
OASIS PortalCEP290 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP290  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEP290
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch CEP290
DgiDB (Drug Gene Interaction Database)CEP290
DoCM (Curated mutations)CEP290 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP290 (select a term)
intoGenCEP290
Cancer3DCEP290(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610142    610188    610189    611134    611755    615991   
Orphanet280    519    2824    3243    3244   
MedgenCEP290
Genetic Testing Registry CEP290
NextProtO15078 [Medical]
TSGene80184
GENETestsCEP290
Target ValidationCEP290
Huge Navigator CEP290 [HugePedia]
snp3D : Map Gene to Disease80184
BioCentury BCIQCEP290
ClinGenCEP290
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80184
Chemical/Pharm GKB GenePA143485433
Clinical trialCEP290
Miscellaneous
canSAR (ICR)CEP290 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP290
EVEXCEP290
GoPubMedCEP290
iHOPCEP290
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:04:35 CEST 2017

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