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CEP350 (centrosomal protein 350)

Identity

Alias_namescentrosomal protein 350kDa
Alias_symbol (synonym)KIAA0480
CAP350
Other aliasGM133
HGNC (Hugo) CEP350
LocusID (NCBI) 9857
Atlas_Id 46062
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179923908 and ends at 180084015 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CEP350 (1q25.2) / TDRD5 (1q25.2)ERCC6 (10q11.23) / CEP350 (1q25.2)GABRG3 (15q12) / CEP350 (1q25.2)
RBBP6 (16p12.1) / CEP350 (1q25.2)UQCRFS1 (19q12) / CEP350 (1q25.2)CEP350 1q25.2 / TDRD5 1q25.2

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)CEP350   24238
Cards
Entrez_Gene (NCBI)CEP350  9857  centrosomal protein 350
AliasesCAP350; GM133
GeneCards (Weizmann)CEP350
Ensembl hg19 (Hinxton)ENSG00000135837 [Gene_View]  chr1:179923908-180084015 [Contig_View]  CEP350 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135837 [Gene_View]  chr1:179923908-180084015 [Contig_View]  CEP350 [Vega]
ICGC DataPortalENSG00000135837
TCGA cBioPortalCEP350
AceView (NCBI)CEP350
Genatlas (Paris)CEP350
WikiGenes9857
SOURCE (Princeton)CEP350
Genetics Home Reference (NIH)CEP350
Genomic and cartography
GoldenPath hg19 (UCSC)CEP350  -     chr1:179923908-180084015 +  1q25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CEP350  -     1q25.2   [Description]    (hg38-Dec_2013)
EnsemblCEP350 - 1q25.2 [CytoView hg19]  CEP350 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBICEP350 [Mapview hg19]  CEP350 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB007949 AF287356 AF387614 AK000704 AK022813
RefSeq transcript (Entrez)NM_014810
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)CEP350
Cluster EST : UnigeneHs.413045 [ NCBI ]
CGAP (NCI)Hs.413045
Alternative Splicing GalleryENSG00000135837
Gene ExpressionCEP350 [ NCBI-GEO ]   CEP350 [ EBI - ARRAY_EXPRESS ]   CEP350 [ SEEK ]   CEP350 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP350 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9857
GTEX Portal (Tissue expression)CEP350
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VT06   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VT06  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VT06
Splice isoforms : SwissVarQ5VT06
PhosPhoSitePlusQ5VT06
Domaine pattern : Prosite (Expaxy)CAP_GLY_1 (PS00845)    CAP_GLY_2 (PS50245)   
Domains : Interpro (EBI)CAP-Gly_domain    CEP350   
Domain families : Pfam (Sanger)CAP_GLY (PF01302)   
Domain families : Pfam (NCBI)pfam01302   
Domain families : Smart (EMBL)CAP_GLY (SM01052)  
Conserved Domain (NCBI)CEP350
DMDM Disease mutations9857
Blocks (Seattle)CEP350
PDB (SRS)2COZ   
PDB (PDBSum)2COZ   
PDB (IMB)2COZ   
PDB (RSDB)2COZ   
Structural Biology KnowledgeBase2COZ   
SCOP (Structural Classification of Proteins)2COZ   
CATH (Classification of proteins structures)2COZ   
SuperfamilyQ5VT06
Human Protein AtlasENSG00000135837
Peptide AtlasQ5VT06
HPRD09870
IPIIPI00103595   IPI00477744   IPI00513696   IPI00643203   IPI00748061   IPI00853493   IPI00977130   IPI00980256   
Protein Interaction databases
DIP (DOE-UCLA)Q5VT06
IntAct (EBI)Q5VT06
FunCoupENSG00000135837
BioGRIDCEP350
STRING (EMBL)CEP350
ZODIACCEP350
Ontologies - Pathways
QuickGOQ5VT06
Ontology : AmiGOprotein binding  nucleoplasm  cytoplasm  centrosome  spindle  microtubule binding  membrane  microtubule anchoring  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytoplasm  centrosome  spindle  microtubule binding  membrane  microtubule anchoring  
NDEx NetworkCEP350
Atlas of Cancer Signalling NetworkCEP350
Wikipedia pathwaysCEP350
Orthology - Evolution
OrthoDB9857
GeneTree (enSembl)ENSG00000135837
Phylogenetic Trees/Animal Genes : TreeFamCEP350
HOVERGENQ5VT06
HOGENOMQ5VT06
Homologs : HomoloGeneCEP350
Homology/Alignments : Family Browser (UCSC)CEP350
Gene fusions - Rearrangements
Fusion : MitelmanCEP350/TDRD5 [1q25.2/1q25.2]  
Fusion: TCGACEP350 1q25.2 TDRD5 1q25.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP350 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP350
dbVarCEP350
ClinVarCEP350
1000_GenomesCEP350 
Exome Variant ServerCEP350
ExAC (Exome Aggregation Consortium)CEP350 (select the gene name)
Genetic variants : HAPMAP9857
Genomic Variants (DGV)CEP350 [DGVbeta]
DECIPHER (Syndromes)1:179923908-180084015  ENSG00000135837
CONAN: Copy Number AnalysisCEP350 
Mutations
ICGC Data PortalCEP350 
TCGA Data PortalCEP350 
Broad Tumor PortalCEP350
OASIS PortalCEP350 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP350  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEP350
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
BioMutasearch CEP350
DgiDB (Drug Gene Interaction Database)CEP350
DoCM (Curated mutations)CEP350 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP350 (select a term)
intoGenCEP350
Cancer3DCEP350(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCEP350
Genetic Testing Registry CEP350
NextProtQ5VT06 [Medical]
TSGene9857
GENETestsCEP350
Huge Navigator CEP350 [HugePedia]
snp3D : Map Gene to Disease9857
BioCentury BCIQCEP350
ClinGenCEP350
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9857
Chemical/Pharm GKB GenePA143485434
Clinical trialCEP350
Miscellaneous
canSAR (ICR)CEP350 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP350
EVEXCEP350
GoPubMedCEP350
iHOPCEP350
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:13 CEST 2017

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