Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CEP290 (centrosomal protein 290kDa)

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 88442790 and ends at 88535993 bp from pter ( according to hg19-Feb_2009)
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 290kDa
Aliases3H11Ag; BBS14; CT87; JBTS5; 
LCA10; MKS4; NPHP6; POC3; SLSN6; rd16
GeneCards (Weizmann)CEP290
Ensembl hg19 (Hinxton)ENSG00000198707 [Gene_View]  chr12:88442790-88535993 [Contig_View]  CEP290 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198707 [Gene_View]  chr12:88442790-88535993 [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 hg19 (UCSC)CEP290  -     chr12:88442790-88535993 -  12q21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CEP290  -     12q21.32   [Description]    (hg38-Dec_2013)
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)NC_000012 NC_018923 NG_008417 NT_029419 NW_004929384
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)Cep290   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
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  mitotic cell cycle  gamma-tubulin complex  protein binding  nucleus  cytoplasm  centrosome  centrosome  cytosol  cytosol  organelle organization  establishment or maintenance of cell polarity  protein transport  membrane  regulation of cAMP metabolic process  hindbrain development  otic vesicle formation  photoreceptor connecting cilium  centriolar satellite  ciliary transition zone  TCTN-B9D complex  ciliary basal body  cilium assembly  eye photoreceptor cell development  protein complex  positive regulation of transcription, DNA-templated  pronephros development  microtubule minus-end binding  retina development in camera-type eye  cilium morphogenesis  regulation of establishment of protein localization  positive regulation of intracellular protein transport  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  gamma-tubulin complex  protein binding  nucleus  cytoplasm  centrosome  centrosome  cytosol  cytosol  organelle organization  establishment or maintenance of cell polarity  protein transport  membrane  regulation of cAMP metabolic process  hindbrain development  otic vesicle formation  photoreceptor connecting cilium  centriolar satellite  ciliary transition zone  TCTN-B9D complex  ciliary basal body  cilium assembly  eye photoreceptor cell development  protein complex  positive regulation of transcription, DNA-templated  pronephros development  microtubule minus-end binding  retina development in camera-type eye  cilium morphogenesis  regulation of establishment of protein localization  positive regulation of intracellular protein transport  
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]
DECIPHER (Syndromes)12:88442790-88535993  ENSG00000198707
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
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
PubMed76 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:59:09 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.