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CCDC78 (coiled-coil domain containing 78)

Identity

Alias_namesC16orf25
Alias_symbol (synonym)FLJ34512
Other aliasCNM4
JFP10
hsCCDC78
HGNC (Hugo) CCDC78
LocusID (NCBI) 124093
Atlas_Id 61566
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 722582 and ends at 726473 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)

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)CCDC78   14153
Cards
Entrez_Gene (NCBI)CCDC78  124093  coiled-coil domain containing 78
AliasesC16orf25; CNM4; JFP10; hsCCDC78
GeneCards (Weizmann)CCDC78
Ensembl hg19 (Hinxton)ENSG00000162004 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162004 [Gene_View]  chr16:722582-726473 [Contig_View]  CCDC78 [Vega]
ICGC DataPortalENSG00000162004
TCGA cBioPortalCCDC78
AceView (NCBI)CCDC78
Genatlas (Paris)CCDC78
WikiGenes124093
SOURCE (Princeton)CCDC78
Genetics Home Reference (NIH)CCDC78
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC78  -     chr16:722582-726473 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC78  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblCCDC78 - 16p13.3 [CytoView hg19]  CCDC78 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBICCDC78 [Mapview hg19]  CCDC78 [Mapview hg38]
OMIM614666   614807   
Gene and transcription
Genbank (Entrez)AK057178 AK091831 AK127495 AK128538 AK128575
RefSeq transcript (Entrez)NM_001031737 NM_173476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC78
Cluster EST : UnigeneHs.381943 [ NCBI ]
CGAP (NCI)Hs.381943
Alternative Splicing GalleryENSG00000162004
Gene ExpressionCCDC78 [ NCBI-GEO ]   CCDC78 [ EBI - ARRAY_EXPRESS ]   CCDC78 [ SEEK ]   CCDC78 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC78 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124093
GTEX Portal (Tissue expression)CCDC78
Human Protein AtlasENSG00000162004-CCDC78 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA2IDD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA2IDD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA2IDD5
Splice isoforms : SwissVarA2IDD5
PhosPhoSitePlusA2IDD5
Domains : Interpro (EBI)DUF4472   
Domain families : Pfam (Sanger)DUF4472 (PF14739)   
Domain families : Pfam (NCBI)pfam14739   
Conserved Domain (NCBI)CCDC78
DMDM Disease mutations124093
Blocks (Seattle)CCDC78
SuperfamilyA2IDD5
Human Protein Atlas [tissue]ENSG00000162004-CCDC78 [tissue]
Peptide AtlasA2IDD5
HPRD08174
IPIIPI00216820   IPI00847993   IPI00640123   IPI00641470   IPI00418718   IPI00640899   IPI00917751   IPI00955820   IPI00443453   
Protein Interaction databases
DIP (DOE-UCLA)A2IDD5
IntAct (EBI)A2IDD5
FunCoupENSG00000162004
BioGRIDCCDC78
STRING (EMBL)CCDC78
ZODIACCCDC78
Ontologies - Pathways
QuickGOA2IDD5
Ontology : AmiGOskeletal muscle contraction  centriole  sarcoplasmic reticulum  cell projection organization  sarcolemma  perinuclear region of cytoplasm  de novo centriole assembly involved in multi-ciliated epithelial cell differentiation  deuterosome  
Ontology : EGO-EBIskeletal muscle contraction  centriole  sarcoplasmic reticulum  cell projection organization  sarcolemma  perinuclear region of cytoplasm  de novo centriole assembly involved in multi-ciliated epithelial cell differentiation  deuterosome  
NDEx NetworkCCDC78
Atlas of Cancer Signalling NetworkCCDC78
Wikipedia pathwaysCCDC78
Orthology - Evolution
OrthoDB124093
GeneTree (enSembl)ENSG00000162004
Phylogenetic Trees/Animal Genes : TreeFamCCDC78
HOVERGENA2IDD5
HOGENOMA2IDD5
Homologs : HomoloGeneCCDC78
Homology/Alignments : Family Browser (UCSC)CCDC78
Gene fusions - Rearrangements
Tumor Fusion PortalCCDC78
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC78 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC78
dbVarCCDC78
ClinVarCCDC78
1000_GenomesCCDC78 
Exome Variant ServerCCDC78
ExAC (Exome Aggregation Consortium)ENSG00000162004
GNOMAD BrowserENSG00000162004
Genetic variants : HAPMAP124093
Genomic Variants (DGV)CCDC78 [DGVbeta]
DECIPHERCCDC78 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC78 
Mutations
ICGC Data PortalCCDC78 
TCGA Data PortalCCDC78 
Broad Tumor PortalCCDC78
OASIS PortalCCDC78 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC78  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC78
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CCDC78
DgiDB (Drug Gene Interaction Database)CCDC78
DoCM (Curated mutations)CCDC78 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC78 (select a term)
intoGenCCDC78
Cancer3DCCDC78(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614666    614807   
Orphanet21618   
DisGeNETCCDC78
MedgenCCDC78
Genetic Testing Registry CCDC78
NextProtA2IDD5 [Medical]
TSGene124093
GENETestsCCDC78
Target ValidationCCDC78
Huge Navigator CCDC78 [HugePedia]
snp3D : Map Gene to Disease124093
BioCentury BCIQCCDC78
ClinGenCCDC78
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124093
Chemical/Pharm GKB GenePA25539
Clinical trialCCDC78
Miscellaneous
canSAR (ICR)CCDC78 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC78
EVEXCCDC78
GoPubMedCCDC78
iHOPCCDC78
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 13:33:00 CET 2017

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