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CEP164 (centrosomal protein 164)

Identity

Alias_namescentrosomal protein 164kDa
Alias_symbol (synonym)KIAA1052
NPHP15
Other alias
HGNC (Hugo) CEP164
LocusID (NCBI) 22897
Atlas_Id 50935
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117327855 and ends at 117413266 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)
CEP164 (11q23.3) / APOC3 (11q23.3)KMT2A (11q23.3) / CEP164 (11q23.3)MED26 (19p13.11) / CEP164 (11q23.3)
MLLT10 (10p12.31) / CEP164 (11q23.3)CEP164 11q23.3 / APOC3 11q23.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(10;11)(p12;q23) MLLT10/CEP164
t(11;11)(q23;q23) KMT2A/CEP164
t(11;19)(q23;q13) CEP164/EMP3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  CEP164/APOC3 (11q23)

External links

Nomenclature
HGNC (Hugo)CEP164   29182
Cards
Entrez_Gene (NCBI)CEP164  22897  centrosomal protein 164
AliasesNPHP15
GeneCards (Weizmann)CEP164
Ensembl hg19 (Hinxton)ENSG00000110274 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110274 [Gene_View]  ENSG00000110274 [Sequence]  chr11:117327855-117413266 [Contig_View]  CEP164 [Vega]
ICGC DataPortalENSG00000110274
TCGA cBioPortalCEP164
AceView (NCBI)CEP164
Genatlas (Paris)CEP164
WikiGenes22897
SOURCE (Princeton)CEP164
Genetics Home Reference (NIH)CEP164
Genomic and cartography
GoldenPath hg38 (UCSC)CEP164  -     chr11:117327855-117413266 +  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP164  -     11q23.3   [Description]    (hg19-Feb_2009)
GoldenPathCEP164 - 11q23.3 [CytoView hg19]  CEP164 - 11q23.3 [CytoView hg38]
ImmunoBaseENSG00000110274
Mapping of homologs : NCBICEP164 [Mapview hg19]  CEP164 [Mapview hg38]
OMIM614845   614848   
Gene and transcription
Genbank (Entrez)AB028975 AK001412 AK125995 AK302991 AK303067
RefSeq transcript (Entrez)NM_001271933 NM_014956
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP164
Alternative Splicing GalleryENSG00000110274
Gene ExpressionCEP164 [ NCBI-GEO ]   CEP164 [ EBI - ARRAY_EXPRESS ]   CEP164 [ SEEK ]   CEP164 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP164 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22897
GTEX Portal (Tissue expression)CEP164
Human Protein AtlasENSG00000110274-CEP164 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPV0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPV0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPV0
Splice isoforms : SwissVarQ9UPV0
PhosPhoSitePlusQ9UPV0
Domaine pattern : Prosite (Expaxy)WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)WW_dom    WW_dom_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)WW (SM00456)  
Conserved Domain (NCBI)CEP164
DMDM Disease mutations22897
Blocks (Seattle)CEP164
SuperfamilyQ9UPV0
Human Protein Atlas [tissue]ENSG00000110274-CEP164 [tissue]
Peptide AtlasQ9UPV0
HPRD10854
IPIIPI00007293   IPI00876967   IPI00922746   IPI00445310   IPI00983120   IPI00976605   IPI00976008   IPI00979107   IPI00980545   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPV0
IntAct (EBI)Q9UPV0
FunCoupENSG00000110274
BioGRIDCEP164
STRING (EMBL)CEP164
ZODIACCEP164
Ontologies - Pathways
QuickGOQ9UPV0
Ontology : AmiGOG2/M transition of mitotic cell cycle  protein binding  extracellular space  nucleoplasm  nucleoplasm  centrosome  centrosome  centriole  centriole  cytosol  DNA repair  regulation of G2/M transition of mitotic cell cycle  intracellular membrane-bounded organelle  cell division  cilium assembly  cilium assembly  ciliary transition fiber  ciliary transition fiber  ciliary basal body-plasma membrane docking  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  protein binding  extracellular space  nucleoplasm  nucleoplasm  centrosome  centrosome  centriole  centriole  cytosol  DNA repair  regulation of G2/M transition of mitotic cell cycle  intracellular membrane-bounded organelle  cell division  cilium assembly  cilium assembly  ciliary transition fiber  ciliary transition fiber  ciliary basal body-plasma membrane docking  
NDEx NetworkCEP164
Atlas of Cancer Signalling NetworkCEP164
Wikipedia pathwaysCEP164
Orthology - Evolution
OrthoDB22897
GeneTree (enSembl)ENSG00000110274
Phylogenetic Trees/Animal Genes : TreeFamCEP164
HOGENOMQ9UPV0
Homologs : HomoloGeneCEP164
Homology/Alignments : Family Browser (UCSC)CEP164
Gene fusions - Rearrangements
Fusion : MitelmanCEP164/APOC3 [11q23.3/11q23.3]  
Fusion : MitelmanMLLT10/CEP164 [10p12.31/11q23.3]  [t(10;11)(p12;q23)]  
Fusion PortalCEP164 11q23.3 APOC3 11q23.3 PRAD
Fusion : QuiverCEP164
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP164 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP164
dbVarCEP164
ClinVarCEP164
1000_GenomesCEP164 
Exome Variant ServerCEP164
ExAC (Exome Aggregation Consortium)ENSG00000110274
GNOMAD BrowserENSG00000110274
Varsome BrowserCEP164
Genetic variants : HAPMAP22897
Genomic Variants (DGV)CEP164 [DGVbeta]
DECIPHERCEP164 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP164 
Mutations
ICGC Data PortalCEP164 
TCGA Data PortalCEP164 
Broad Tumor PortalCEP164
OASIS PortalCEP164 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP164  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEP164
Mutations and Diseases : HGMDCEP164
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
BioMutasearch CEP164
DgiDB (Drug Gene Interaction Database)CEP164
DoCM (Curated mutations)CEP164 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP164 (select a term)
intoGenCEP164
Cancer3DCEP164(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614845    614848   
Orphanet2824   
DisGeNETCEP164
MedgenCEP164
Genetic Testing Registry CEP164
NextProtQ9UPV0 [Medical]
TSGene22897
GENETestsCEP164
Target ValidationCEP164
Huge Navigator CEP164 [HugePedia]
snp3D : Map Gene to Disease22897
BioCentury BCIQCEP164
ClinGenCEP164
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22897
Chemical/Pharm GKB GenePA142672127
Clinical trialCEP164
Miscellaneous
canSAR (ICR)CEP164 (select the gene name)
HarmonizomeCEP164
DataMed IndexCEP164
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP164
EVEXCEP164
GoPubMedCEP164
iHOPCEP164
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:10:08 CEST 2020
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