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CEP120 (centrosomal protein 120)

Identity

Alias_namesCCDC100
coiled-coil domain containing 100
centrosomal protein 120kDa
Alias_symbol (synonym)FLJ36090
Other aliasSRTD13
HGNC (Hugo) CEP120
LocusID (NCBI) 153241
Atlas_Id 61716
Location 5q23.2  [Link to chromosome band 5q23]
Location_base_pair Starts at 123344885 and ends at 123423592 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)
CEP120 (5q23.2) / PDE6A (5q32)

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)CEP120   26690
Cards
Entrez_Gene (NCBI)CEP120  153241  centrosomal protein 120
AliasesCCDC100; SRTD13
GeneCards (Weizmann)CEP120
Ensembl hg19 (Hinxton)ENSG00000168944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168944 [Gene_View]  chr5:123344885-123423592 [Contig_View]  CEP120 [Vega]
ICGC DataPortalENSG00000168944
TCGA cBioPortalCEP120
AceView (NCBI)CEP120
Genatlas (Paris)CEP120
WikiGenes153241
SOURCE (Princeton)CEP120
Genetics Home Reference (NIH)CEP120
Genomic and cartography
GoldenPath hg38 (UCSC)CEP120  -     chr5:123344885-123423592 -  5q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP120  -     5q23.2   [Description]    (hg19-Feb_2009)
EnsemblCEP120 - 5q23.2 [CytoView hg19]  CEP120 - 5q23.2 [CytoView hg38]
Mapping of homologs : NCBICEP120 [Mapview hg19]  CEP120 [Mapview hg38]
OMIM613446   616300   
Gene and transcription
Genbank (Entrez)AK093409 AK095646 AK296999 AL833929 BC040527
RefSeq transcript (Entrez)NM_001166226 NM_153223
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP120
Cluster EST : UnigeneHs.483209 [ NCBI ]
CGAP (NCI)Hs.483209
Alternative Splicing GalleryENSG00000168944
Gene ExpressionCEP120 [ NCBI-GEO ]   CEP120 [ EBI - ARRAY_EXPRESS ]   CEP120 [ SEEK ]   CEP120 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP120 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)153241
GTEX Portal (Tissue expression)CEP120
Human Protein AtlasENSG00000168944-CEP120 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N960   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N960  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N960
Splice isoforms : SwissVarQ8N960
PhosPhoSitePlusQ8N960
Domains : Interpro (EBI)C2_dom    DUF3668   
Domain families : Pfam (Sanger)C2 (PF00168)    DUF3668 (PF12416)   
Domain families : Pfam (NCBI)pfam00168    pfam12416   
Conserved Domain (NCBI)CEP120
DMDM Disease mutations153241
Blocks (Seattle)CEP120
PDB (SRS)4ICW    4ICX   
PDB (PDBSum)4ICW    4ICX   
PDB (IMB)4ICW    4ICX   
PDB (RSDB)4ICW    4ICX   
Structural Biology KnowledgeBase4ICW    4ICX   
SCOP (Structural Classification of Proteins)4ICW    4ICX   
CATH (Classification of proteins structures)4ICW    4ICX   
SuperfamilyQ8N960
Human Protein Atlas [tissue]ENSG00000168944-CEP120 [tissue]
Peptide AtlasQ8N960
HPRD08769
IPIIPI00748877   IPI00171224   IPI00217258   IPI00909859   IPI01021567   IPI00964519   IPI00974555   
Protein Interaction databases
DIP (DOE-UCLA)Q8N960
IntAct (EBI)Q8N960
FunCoupENSG00000168944
BioGRIDCEP120
STRING (EMBL)CEP120
ZODIACCEP120
Ontologies - Pathways
QuickGOQ8N960
Ontology : AmiGOprotein binding  centrosome  centriole  centrosome cycle  protein C-terminus binding  positive regulation of centrosome duplication  cerebral cortex development  neurogenesis  interkinetic nuclear migration  astral microtubule organization  regulation of protein localization  positive regulation of cilium assembly  
Ontology : EGO-EBIprotein binding  centrosome  centriole  centrosome cycle  protein C-terminus binding  positive regulation of centrosome duplication  cerebral cortex development  neurogenesis  interkinetic nuclear migration  astral microtubule organization  regulation of protein localization  positive regulation of cilium assembly  
NDEx NetworkCEP120
Atlas of Cancer Signalling NetworkCEP120
Wikipedia pathwaysCEP120
Orthology - Evolution
OrthoDB153241
GeneTree (enSembl)ENSG00000168944
Phylogenetic Trees/Animal Genes : TreeFamCEP120
HOVERGENQ8N960
HOGENOMQ8N960
Homologs : HomoloGeneCEP120
Homology/Alignments : Family Browser (UCSC)CEP120
Gene fusions - Rearrangements
Tumor Fusion PortalCEP120
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP120 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP120
dbVarCEP120
ClinVarCEP120
1000_GenomesCEP120 
Exome Variant ServerCEP120
ExAC (Exome Aggregation Consortium)ENSG00000168944
GNOMAD BrowserENSG00000168944
Genetic variants : HAPMAP153241
Genomic Variants (DGV)CEP120 [DGVbeta]
DECIPHERCEP120 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP120 
Mutations
ICGC Data PortalCEP120 
TCGA Data PortalCEP120 
Broad Tumor PortalCEP120
OASIS PortalCEP120 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP120  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEP120
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 CEP120
DgiDB (Drug Gene Interaction Database)CEP120
DoCM (Curated mutations)CEP120 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP120 (select a term)
intoGenCEP120
Cancer3DCEP120(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613446    616300   
Orphanet283   
DisGeNETCEP120
MedgenCEP120
Genetic Testing Registry CEP120
NextProtQ8N960 [Medical]
TSGene153241
GENETestsCEP120
Target ValidationCEP120
Huge Navigator CEP120 [HugePedia]
snp3D : Map Gene to Disease153241
BioCentury BCIQCEP120
ClinGenCEP120
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD153241
Chemical/Pharm GKB GenePA164717857
Clinical trialCEP120
Miscellaneous
canSAR (ICR)CEP120 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP120
EVEXCEP120
GoPubMedCEP120
iHOPCEP120
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:11:33 CET 2017

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