Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CEP295 (centrosomal protein 295)

Identity

Alias (NCBI)KIAA1731
HGNC (Hugo) CEP295
HGNC Previous nameKIAA1731
HGNC Previous nameKIAA1731
 centrosomal protein 295kDa
LocusID (NCBI) 85459
Atlas_Id 61723
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 93661650 and ends at 93730356 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)
CEP295 (11q21) / ARRB2 (17p13.2)CEP295 (11q21) / MEG3 (14q32.2)CEP295 (11q21) / WDR90 (16p13.3)
CEP295 (11q21) / XKR6 (8p23.1)CEP295 (11q21) / XRCC1 (19q13.31)FRMD6 (14q22.1) / CEP295 (11q21)

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) [ 1 ]
  t(11;16)(q21;p13) CEP295/WDR90

External links

Nomenclature
HGNC (Hugo)CEP295   29366
Cards
Entrez_Gene (NCBI)CEP295  85459  centrosomal protein 295
AliasesKIAA1731
GeneCards (Weizmann)CEP295
Ensembl hg19 (Hinxton)ENSG00000166004 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166004 [Gene_View]  ENSG00000166004 [Sequence]  chr11:93661650-93730356 [Contig_View]  CEP295 [Vega]
ICGC DataPortalENSG00000166004
TCGA cBioPortalCEP295
AceView (NCBI)CEP295
Genatlas (Paris)CEP295
WikiGenes85459
SOURCE (Princeton)CEP295
Genetics Home Reference (NIH)CEP295
Genomic and cartography
GoldenPath hg38 (UCSC)CEP295  -     chr11:93661650-93730356 +  11q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP295  -     11q21   [Description]    (hg19-Feb_2009)
GoldenPathCEP295 - 11q21 [CytoView hg19]  CEP295 - 11q21 [CytoView hg38]
ImmunoBaseENSG00000166004
genome Data Viewer NCBICEP295 [Mapview hg19]  
OMIM617728   
Gene and transcription
Genbank (Entrez)AA747565 AB051518 AK057804 AK095218 AK095859
RefSeq transcript (Entrez)NM_033395
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP295
Alternative Splicing GalleryENSG00000166004
Gene ExpressionCEP295 [ NCBI-GEO ]   CEP295 [ EBI - ARRAY_EXPRESS ]   CEP295 [ SEEK ]   CEP295 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP295 [ Firebrowse - Broad ]
GenevisibleExpression of CEP295 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85459
GTEX Portal (Tissue expression)CEP295
Human Protein AtlasENSG00000166004-CEP295 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0D2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0D2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0D2
Splice isoforms : SwissVarQ9C0D2
PhosPhoSitePlusQ9C0D2
Domains : Interpro (EBI)ALMS_motif    CEP295   
Domain families : Pfam (Sanger)ALMS_motif (PF15309)   
Domain families : Pfam (NCBI)pfam15309   
Conserved Domain (NCBI)CEP295
DMDM Disease mutations85459
Blocks (Seattle)CEP295
SuperfamilyQ9C0D2
Human Protein Atlas [tissue]ENSG00000166004-CEP295 [tissue]
Peptide AtlasQ9C0D2
IPIIPI00400986   IPI00413374   IPI00887108   IPI00887595   IPI00976965   IPI00978718   IPI00978165   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0D2
IntAct (EBI)Q9C0D2
FunCoupENSG00000166004
BioGRIDCEP295
STRING (EMBL)CEP295
ZODIACCEP295
Ontologies - Pathways
QuickGOQ9C0D2
Ontology : AmiGOcytoplasm  centrosome  centrosome  centriole  centriole  cytosol  cytosol  cytoskeleton  plasma membrane  microtubule binding  microtubule binding  positive regulation of centrosome duplication  regulation of centriole replication  positive regulation of protein acetylation  positive regulation of centriole elongation  positive regulation of establishment of protein localization  mitotic spindle microtubule  
Ontology : EGO-EBIcytoplasm  centrosome  centrosome  centriole  centriole  cytosol  cytosol  cytoskeleton  plasma membrane  microtubule binding  microtubule binding  positive regulation of centrosome duplication  regulation of centriole replication  positive regulation of protein acetylation  positive regulation of centriole elongation  positive regulation of establishment of protein localization  mitotic spindle microtubule  
NDEx NetworkCEP295
Atlas of Cancer Signalling NetworkCEP295
Wikipedia pathwaysCEP295
Orthology - Evolution
OrthoDB85459
GeneTree (enSembl)ENSG00000166004
Phylogenetic Trees/Animal Genes : TreeFamCEP295
HOGENOMQ9C0D2
Homologs : HomoloGeneCEP295
Homology/Alignments : Family Browser (UCSC)CEP295
Gene fusions - Rearrangements
Fusion : QuiverCEP295
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP295 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP295
dbVarCEP295
ClinVarCEP295
1000_GenomesCEP295 
Exome Variant ServerCEP295
GNOMAD BrowserENSG00000166004
Varsome BrowserCEP295
Genetic variants : HAPMAP85459
Genomic Variants (DGV)CEP295 [DGVbeta]
DECIPHERCEP295 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP295 
Mutations
ICGC Data PortalCEP295 
TCGA Data PortalCEP295 
Broad Tumor PortalCEP295
OASIS PortalCEP295 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP295  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEP295
Mutations and Diseases : HGMDCEP295
BioMutasearch CEP295
DgiDB (Drug Gene Interaction Database)CEP295
DoCM (Curated mutations)CEP295 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP295 (select a term)
intoGenCEP295
Cancer3DCEP295(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617728   
Orphanet
DisGeNETCEP295
MedgenCEP295
Genetic Testing Registry CEP295
NextProtQ9C0D2 [Medical]
TSGene85459
GENETestsCEP295
Target ValidationCEP295
Huge Navigator CEP295 [HugePedia]
snp3D : Map Gene to Disease85459
BioCentury BCIQCEP295
ClinGenCEP295
Clinical trials, drugs, therapy
Protein Interactions : CTD85459
Pharm GKB GenePA142671597
Clinical trialCEP295
Miscellaneous
canSAR (ICR)CEP295 (select the gene name)
HarmonizomeCEP295
DataMed IndexCEP295
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP295
EVEXCEP295
GoPubMedCEP295
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:51:19 CEST 2020
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