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CEP112 (centrosomal protein 112)

Identity

Alias_namesCCDC46
coiled-coil domain containing 46
centrosomal protein 112kDa
Alias_symbol (synonym)MGC33887
Other aliasMACOCO
HGNC (Hugo) CEP112
LocusID (NCBI) 201134
Atlas_Id 61715
Location 17q24.1  [Link to chromosome band 17q24]
Location_base_pair Starts at 65635540 and ends at 65826543 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARSG (17q24.2) / CEP112 (17q24.1)BRWD1 (21q22.2) / CEP112 (17q24.1)CASC3 (17q21.1) / CEP112 (17q24.1)
CEP112 (17q24.1) / CCDC109B (4q25)CEP112 (17q24.1) / LRBA (4q31.3)CEP112 (17q24.1) / OTOA (16p12.2)
CEP112 (17q24.1) / TEX2 (17q23.3)EVA1C (21q22.11) / CEP112 (17q24.1)GNA13 (17q24.1) / CEP112 (17q24.1)
HELZ (17q24.2) / CEP112 (17q24.1)MED24 (17q21.1) / CEP112 (17q24.1)OLFM2 (19p13.2) / CEP112 (17q24.1)
PSMD11 (17q11.2) / CEP112 (17q24.1)SUPT4H1 (17q22) / CEP112 (17q24.1)HELZ CEP112
MED24 CEP112PSMD11 CEP112C21orf63 CEP112
ARSG CEP112OLFM2 CEP112

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)CEP112   28514
Cards
Entrez_Gene (NCBI)CEP112  201134  centrosomal protein 112
AliasesCCDC46; MACOCO
GeneCards (Weizmann)CEP112
Ensembl hg19 (Hinxton)ENSG00000154240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154240 [Gene_View]  chr17:65635540-65826543 [Contig_View]  CEP112 [Vega]
ICGC DataPortalENSG00000154240
TCGA cBioPortalCEP112
AceView (NCBI)CEP112
Genatlas (Paris)CEP112
WikiGenes201134
SOURCE (Princeton)CEP112
Genetics Home Reference (NIH)CEP112
Genomic and cartography
GoldenPath hg38 (UCSC)CEP112  -     chr17:65635540-65826543 -  17q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP112  -     17q24.1   [Description]    (hg19-Feb_2009)
EnsemblCEP112 - 17q24.1 [CytoView hg19]  CEP112 - 17q24.1 [CytoView hg38]
Mapping of homologs : NCBICEP112 [Mapview hg19]  CEP112 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA723963 AA781351 AF458591 AK096929 AK097612
RefSeq transcript (Entrez)NM_001037325 NM_001199165 NM_001302891 NM_145036
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP112
Cluster EST : UnigeneHs.408676 [ NCBI ]
CGAP (NCI)Hs.408676
Alternative Splicing GalleryENSG00000154240
Gene ExpressionCEP112 [ NCBI-GEO ]   CEP112 [ EBI - ARRAY_EXPRESS ]   CEP112 [ SEEK ]   CEP112 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP112 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)201134
GTEX Portal (Tissue expression)CEP112
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N8E3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N8E3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N8E3
Splice isoforms : SwissVarQ8N8E3
PhosPhoSitePlusQ8N8E3
Domains : Interpro (EBI)DUF4485   
Domain families : Pfam (Sanger)DUF4485 (PF14846)   
Domain families : Pfam (NCBI)pfam14846   
Conserved Domain (NCBI)CEP112
DMDM Disease mutations201134
Blocks (Seattle)CEP112
SuperfamilyQ8N8E3
Human Protein AtlasENSG00000154240
Peptide AtlasQ8N8E3
HPRD11336
IPIIPI00385065   IPI00168429   IPI01011923   IPI00903246   
Protein Interaction databases
DIP (DOE-UCLA)Q8N8E3
IntAct (EBI)Q8N8E3
FunCoupENSG00000154240
BioGRIDCEP112
STRING (EMBL)CEP112
ZODIACCEP112
Ontologies - Pathways
QuickGOQ8N8E3
Ontology : AmiGOcytoplasm  centrosome  plasma membrane  inhibitory synapse  receptor localization to synapse  
Ontology : EGO-EBIcytoplasm  centrosome  plasma membrane  inhibitory synapse  receptor localization to synapse  
NDEx NetworkCEP112
Atlas of Cancer Signalling NetworkCEP112
Wikipedia pathwaysCEP112
Orthology - Evolution
OrthoDB201134
GeneTree (enSembl)ENSG00000154240
Phylogenetic Trees/Animal Genes : TreeFamCEP112
HOVERGENQ8N8E3
HOGENOMQ8N8E3
Homologs : HomoloGeneCEP112
Homology/Alignments : Family Browser (UCSC)CEP112
Gene fusions - Rearrangements
Fusion: TCGAHELZ CEP112
Fusion: TCGAMED24 CEP112
Fusion: TCGAPSMD11 CEP112
Fusion: TCGAC21orf63 CEP112
Fusion: TCGAARSG CEP112
Fusion: TCGAOLFM2 CEP112
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP112 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP112
dbVarCEP112
ClinVarCEP112
1000_GenomesCEP112 
Exome Variant ServerCEP112
ExAC (Exome Aggregation Consortium)CEP112 (select the gene name)
Genetic variants : HAPMAP201134
Genomic Variants (DGV)CEP112 [DGVbeta]
DECIPHERCEP112 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP112 
Mutations
ICGC Data PortalCEP112 
TCGA Data PortalCEP112 
Broad Tumor PortalCEP112
OASIS PortalCEP112 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP112  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEP112
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 CEP112
DgiDB (Drug Gene Interaction Database)CEP112
DoCM (Curated mutations)CEP112 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP112 (select a term)
intoGenCEP112
Cancer3DCEP112(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCEP112
Genetic Testing Registry CEP112
NextProtQ8N8E3 [Medical]
TSGene201134
GENETestsCEP112
Target ValidationCEP112
Huge Navigator CEP112 [HugePedia]
snp3D : Map Gene to Disease201134
BioCentury BCIQCEP112
ClinGenCEP112
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD201134
Chemical/Pharm GKB GenePA142672163
Clinical trialCEP112
Miscellaneous
canSAR (ICR)CEP112 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP112
EVEXCEP112
GoPubMedCEP112
iHOPCEP112
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:43:14 CEST 2017

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