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CCDC53 (coiled-coil domain containing 53)

Identity

Alias_symbol (synonym)CGI-116
Other alias
HGNC (Hugo) CCDC53
LocusID (NCBI) 51019
Atlas_Id 61549
Location 12q23.2  [Link to chromosome band 12q23]
Location_base_pair Starts at 102406618 and ends at 102455902 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC53 (12q23.2) / C19orf48 (19q13.33)GNPTAB (12q23.2) / CCDC53 (12q23.2)KNTC1 (12q24.31) / CCDC53 (12q23.2)

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)CCDC53   24256
Cards
Entrez_Gene (NCBI)CCDC53  51019  coiled-coil domain containing 53
AliasesCGI-116
GeneCards (Weizmann)CCDC53
Ensembl hg19 (Hinxton)ENSG00000120860 [Gene_View]  chr12:102406618-102455902 [Contig_View]  CCDC53 [Vega]
Ensembl hg38 (Hinxton)ENSG00000120860 [Gene_View]  chr12:102406618-102455902 [Contig_View]  CCDC53 [Vega]
ICGC DataPortalENSG00000120860
TCGA cBioPortalCCDC53
AceView (NCBI)CCDC53
Genatlas (Paris)CCDC53
WikiGenes51019
SOURCE (Princeton)CCDC53
Genetics Home Reference (NIH)CCDC53
Genomic and cartography
GoldenPath hg19 (UCSC)CCDC53  -     chr12:102406618-102455902 -  12q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCDC53  -     12q23.2   [Description]    (hg38-Dec_2013)
EnsemblCCDC53 - 12q23.2 [CytoView hg19]  CCDC53 - 12q23.2 [CytoView hg38]
Mapping of homologs : NCBICCDC53 [Mapview hg19]  CCDC53 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF151874 AF155655 AI739611 AK223339 AK314970
RefSeq transcript (Entrez)NM_001301107 NM_016053
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)CCDC53
Cluster EST : UnigeneHs.405692 [ NCBI ]
CGAP (NCI)Hs.405692
Alternative Splicing GalleryENSG00000120860
Gene ExpressionCCDC53 [ NCBI-GEO ]   CCDC53 [ EBI - ARRAY_EXPRESS ]   CCDC53 [ SEEK ]   CCDC53 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51019
GTEX Portal (Tissue expression)CCDC53
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3C0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3C0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3C0
Splice isoforms : SwissVarQ9Y3C0
PhosPhoSitePlusQ9Y3C0
Domains : Interpro (EBI)WASH_CCDC53   
Domain families : Pfam (Sanger)DUF2360 (PF10152)   
Domain families : Pfam (NCBI)pfam10152   
Conserved Domain (NCBI)CCDC53
DMDM Disease mutations51019
Blocks (Seattle)CCDC53
SuperfamilyQ9Y3C0
Human Protein AtlasENSG00000120860
Peptide AtlasQ9Y3C0
HPRD13031
IPIIPI00032848   IPI01012974   IPI01012552   IPI01009269   IPI01009855   IPI01010196   IPI01010562   IPI01014413   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3C0
IntAct (EBI)Q9Y3C0
FunCoupENSG00000120860
BioGRIDCCDC53
STRING (EMBL)CCDC53
ZODIACCCDC53
Ontologies - Pathways
QuickGOQ9Y3C0
Ontology : AmiGOprotein binding  early endosome  biological_process  protein transport  actin cytoskeleton  intracellular membrane-bounded organelle  WASH complex  
Ontology : EGO-EBIprotein binding  early endosome  biological_process  protein transport  actin cytoskeleton  intracellular membrane-bounded organelle  WASH complex  
NDEx NetworkCCDC53
Atlas of Cancer Signalling NetworkCCDC53
Wikipedia pathwaysCCDC53
Orthology - Evolution
OrthoDB51019
GeneTree (enSembl)ENSG00000120860
Phylogenetic Trees/Animal Genes : TreeFamCCDC53
HOVERGENQ9Y3C0
HOGENOMQ9Y3C0
Homologs : HomoloGeneCCDC53
Homology/Alignments : Family Browser (UCSC)CCDC53
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC53
dbVarCCDC53
ClinVarCCDC53
1000_GenomesCCDC53 
Exome Variant ServerCCDC53
ExAC (Exome Aggregation Consortium)CCDC53 (select the gene name)
Genetic variants : HAPMAP51019
Genomic Variants (DGV)CCDC53 [DGVbeta]
DECIPHER (Syndromes)12:102406618-102455902  ENSG00000120860
CONAN: Copy Number AnalysisCCDC53 
Mutations
ICGC Data PortalCCDC53 
TCGA Data PortalCCDC53 
Broad Tumor PortalCCDC53
OASIS PortalCCDC53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC53
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 CCDC53
DgiDB (Drug Gene Interaction Database)CCDC53
DoCM (Curated mutations)CCDC53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC53 (select a term)
intoGenCCDC53
Cancer3DCCDC53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCCDC53
Genetic Testing Registry CCDC53
NextProtQ9Y3C0 [Medical]
TSGene51019
GENETestsCCDC53
Huge Navigator CCDC53 [HugePedia]
snp3D : Map Gene to Disease51019
BioCentury BCIQCCDC53
ClinGenCCDC53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51019
Chemical/Pharm GKB GenePA142672169
Clinical trialCCDC53
Miscellaneous
canSAR (ICR)CCDC53 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC53
EVEXCCDC53
GoPubMedCCDC53
iHOPCCDC53
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 11:58:36 CET 2017

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