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CEP83 (centrosomal protein 83)

Identity

Alias_namesCCDC41
coiled-coil domain containing 41
centrosomal protein 83kDa
Alias_symbol (synonym)NY-REN-58
NPHP18
Other alias
HGNC (Hugo) CEP83
LocusID (NCBI) 51134
Atlas_Id 41598
Location 12q22  [Link to chromosome band 12q22]
Location_base_pair Starts at 94308280 and ends at 94459988 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CEP83 (12q22) / EIF4EBP2 (10q22.1)RIMBP2 (12q24.33) / CEP83 (12q22)ZBTB25 (14q23.3) / CEP83 (12q22)

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)CEP83   17966
Cards
Entrez_Gene (NCBI)CEP83  51134  centrosomal protein 83
AliasesCCDC41; NPHP18; NY-REN-58
GeneCards (Weizmann)CEP83
Ensembl hg19 (Hinxton)ENSG00000173588 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173588 [Gene_View]  chr12:94308280-94459988 [Contig_View]  CEP83 [Vega]
ICGC DataPortalENSG00000173588
TCGA cBioPortalCEP83
AceView (NCBI)CEP83
Genatlas (Paris)CEP83
WikiGenes51134
SOURCE (Princeton)CEP83
Genetics Home Reference (NIH)CEP83
Genomic and cartography
GoldenPath hg38 (UCSC)CEP83  -     chr12:94308280-94459988 -  12q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP83  -     12q22   [Description]    (hg19-Feb_2009)
EnsemblCEP83 - 12q22 [CytoView hg19]  CEP83 - 12q22 [CytoView hg38]
Mapping of homologs : NCBICEP83 [Mapview hg19]  CEP83 [Mapview hg38]
OMIM615847   615862   
Gene and transcription
Genbank (Entrez)AF155115 AK056316 AK093735 AL705616 BC011009
RefSeq transcript (Entrez)NM_001042399 NM_001346457 NM_001346458 NM_001346459 NM_001346460 NM_001346461 NM_001346462 NM_016122
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP83
Cluster EST : UnigeneHs.584845 [ NCBI ]
CGAP (NCI)Hs.584845
Alternative Splicing GalleryENSG00000173588
Gene ExpressionCEP83 [ NCBI-GEO ]   CEP83 [ EBI - ARRAY_EXPRESS ]   CEP83 [ SEEK ]   CEP83 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP83 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51134
GTEX Portal (Tissue expression)CEP83
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y592   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y592  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y592
Splice isoforms : SwissVarQ9Y592
PhosPhoSitePlusQ9Y592
Domains : Interpro (EBI)Cep83   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CEP83
DMDM Disease mutations51134
Blocks (Seattle)CEP83
SuperfamilyQ9Y592
Human Protein AtlasENSG00000173588
Peptide AtlasQ9Y592
HPRD14869
IPIIPI00796371   IPI01021576   IPI01021870   IPI00180681   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y592
IntAct (EBI)Q9Y592
FunCoupENSG00000173588
BioGRIDCEP83
STRING (EMBL)CEP83
ZODIACCEP83
Ontologies - Pathways
QuickGOQ9Y592
Ontology : AmiGOmolecular_function  protein binding  Golgi apparatus  centriole  cytosol  vesicle docking  cilium assembly  protein localization to centrosome  ciliary transition fiber  ciliary basal body docking  
Ontology : EGO-EBImolecular_function  protein binding  Golgi apparatus  centriole  cytosol  vesicle docking  cilium assembly  protein localization to centrosome  ciliary transition fiber  ciliary basal body docking  
NDEx NetworkCEP83
Atlas of Cancer Signalling NetworkCEP83
Wikipedia pathwaysCEP83
Orthology - Evolution
OrthoDB51134
GeneTree (enSembl)ENSG00000173588
Phylogenetic Trees/Animal Genes : TreeFamCEP83
HOVERGENQ9Y592
HOGENOMQ9Y592
Homologs : HomoloGeneCEP83
Homology/Alignments : Family Browser (UCSC)CEP83
Gene fusions - Rearrangements
Fusion : MitelmanRIMBP2/CEP83 [12q24.33/12q22]  [t(12;12)(q22;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP83 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP83
dbVarCEP83
ClinVarCEP83
1000_GenomesCEP83 
Exome Variant ServerCEP83
ExAC (Exome Aggregation Consortium)CEP83 (select the gene name)
Genetic variants : HAPMAP51134
Genomic Variants (DGV)CEP83 [DGVbeta]
DECIPHERCEP83 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP83 
Mutations
ICGC Data PortalCEP83 
TCGA Data PortalCEP83 
Broad Tumor PortalCEP83
OASIS PortalCEP83 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCEP83
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CEP83
DgiDB (Drug Gene Interaction Database)CEP83
DoCM (Curated mutations)CEP83 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP83 (select a term)
intoGenCEP83
Cancer3DCEP83(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615847    615862   
Orphanet12426   
MedgenCEP83
Genetic Testing Registry CEP83
NextProtQ9Y592 [Medical]
TSGene51134
GENETestsCEP83
Target ValidationCEP83
Huge Navigator CEP83 [HugePedia]
snp3D : Map Gene to Disease51134
BioCentury BCIQCEP83
ClinGenCEP83
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51134
Chemical/Pharm GKB GenePA142672158
Clinical trialCEP83
Miscellaneous
canSAR (ICR)CEP83 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP83
EVEXCEP83
GoPubMedCEP83
iHOPCEP83
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:28:03 CEST 2017

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