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CEP295 (centrosomal protein 295kDa)

Identity

Alias_namesKIAA1731
KIAA1731
centrosomal protein 295kDa
Other alias
HGNC (Hugo) CEP295
LocusID (NCBI) 85459
Atlas_Id 61723
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 93394816 and ends at 93463522 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)CEP295   29366
Cards
Entrez_Gene (NCBI)CEP295  85459  centrosomal protein 295kDa
AliasesKIAA1731
GeneCards (Weizmann)CEP295
Ensembl hg19 (Hinxton)ENSG00000166004 [Gene_View]  chr11:93394816-93463522 [Contig_View]  CEP295 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166004 [Gene_View]  chr11:93394816-93463522 [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 hg19 (UCSC)CEP295  -     chr11:93394816-93463522 +  11q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CEP295  -     11q21   [Description]    (hg38-Dec_2013)
EnsemblCEP295 - 11q21 [CytoView hg19]  CEP295 - 11q21 [CytoView hg38]
Mapping of homologs : NCBICEP295 [Mapview hg19]  CEP295 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA747565 AB051518 AK057804 AK095218 AK095859
RefSeq transcript (Entrez)NM_033395
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_033899 NW_004929380
Consensus coding sequences : CCDS (NCBI)CEP295
Cluster EST : UnigeneHs.458418 [ NCBI ]
CGAP (NCI)Hs.458418
Alternative Splicing GalleryENSG00000166004
Gene ExpressionCEP295 [ NCBI-GEO ]   CEP295 [ EBI - ARRAY_EXPRESS ]   CEP295 [ SEEK ]   CEP295 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP295 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85459
GTEX Portal (Tissue expression)CEP295
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    KIAA1731   
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 AtlasENSG00000166004
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  centriole  cytoskeleton  positive regulation of organelle assembly  
Ontology : EGO-EBIcytoplasm  centrosome  centriole  cytoskeleton  positive regulation of organelle assembly  
NDEx NetworkCEP295
Atlas of Cancer Signalling NetworkCEP295
Wikipedia pathwaysCEP295
Orthology - Evolution
OrthoDB85459
GeneTree (enSembl)ENSG00000166004
Phylogenetic Trees/Animal Genes : TreeFamCEP295
HOVERGENQ9C0D2
HOGENOMQ9C0D2
Homologs : HomoloGeneCEP295
Homology/Alignments : Family Browser (UCSC)CEP295
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP295 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP295
dbVarCEP295
ClinVarCEP295
1000_GenomesCEP295 
Exome Variant ServerCEP295
ExAC (Exome Aggregation Consortium)CEP295 (select the gene name)
Genetic variants : HAPMAP85459
Genomic Variants (DGV)CEP295 [DGVbeta]
DECIPHER (Syndromes)11:93394816-93463522  ENSG00000166004
CONAN: Copy Number AnalysisCEP295 
Mutations
ICGC Data PortalCEP295 
TCGA Data PortalCEP295 
Broad Tumor PortalCEP295
OASIS PortalCEP295 [ Somatic mutations - Copy number]
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCEP295
Genetic Testing Registry CEP295
NextProtQ9C0D2 [Medical]
TSGene85459
GENETestsCEP295
Huge Navigator CEP295 [HugePedia]
snp3D : Map Gene to Disease85459
BioCentury BCIQCEP295
ClinGenCEP295
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85459
Chemical/Pharm GKB GenePA142671597
Clinical trialCEP295
Miscellaneous
canSAR (ICR)CEP295 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP295
EVEXCEP295
GoPubMedCEP295
iHOPCEP295
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:59:09 CET 2017

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