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CCDC40 (coiled-coil domain containing 40)

Identity

Alias_symbol (synonym)FLJ20753
KIAA1640
FLJ32021
CILD15
FAP172
Other alias
HGNC (Hugo) CCDC40
LocusID (NCBI) 55036
Atlas_Id 61544
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80036632 and ends at 80090821 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BPTF (17q24.2) / CCDC40 (17q25.3)

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)CCDC40   26090
Cards
Entrez_Gene (NCBI)CCDC40  55036  coiled-coil domain containing 40
AliasesCILD15; FAP172
GeneCards (Weizmann)CCDC40
Ensembl hg19 (Hinxton)ENSG00000141519 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141519 [Gene_View]  chr17:80036632-80090821 [Contig_View]  CCDC40 [Vega]
ICGC DataPortalENSG00000141519
TCGA cBioPortalCCDC40
AceView (NCBI)CCDC40
Genatlas (Paris)CCDC40
WikiGenes55036
SOURCE (Princeton)CCDC40
Genetics Home Reference (NIH)CCDC40
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC40  -     chr17:80036632-80090821 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC40  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblCCDC40 - 17q25.3 [CytoView hg19]  CCDC40 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBICCDC40 [Mapview hg19]  CCDC40 [Mapview hg38]
OMIM613799   613808   
Gene and transcription
Genbank (Entrez)AB046860 AI393590 AK000760 AK056583 AK130684
RefSeq transcript (Entrez)NM_001243342 NM_001330508 NM_017950
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC40
Cluster EST : UnigeneHs.202542 [ NCBI ]
CGAP (NCI)Hs.202542
Alternative Splicing GalleryENSG00000141519
Gene ExpressionCCDC40 [ NCBI-GEO ]   CCDC40 [ EBI - ARRAY_EXPRESS ]   CCDC40 [ SEEK ]   CCDC40 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55036
GTEX Portal (Tissue expression)CCDC40
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4G0X9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4G0X9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4G0X9
Splice isoforms : SwissVarQ4G0X9
PhosPhoSitePlusQ4G0X9
Domains : Interpro (EBI)E3_ubiquit_lig_BRE1   
Domain families : Pfam (Sanger)BRE1 (PF08647)   
Domain families : Pfam (NCBI)pfam08647   
Conserved Domain (NCBI)CCDC40
DMDM Disease mutations55036
Blocks (Seattle)CCDC40
SuperfamilyQ4G0X9
Human Protein AtlasENSG00000141519
Peptide AtlasQ4G0X9
IPIIPI00642159   IPI00867553   IPI00288939   IPI00017358   IPI00447328   
Protein Interaction databases
DIP (DOE-UCLA)Q4G0X9
IntAct (EBI)Q4G0X9
FunCoupENSG00000141519
BioGRIDCCDC40
STRING (EMBL)CCDC40
ZODIACCCDC40
Ontologies - Pathways
QuickGOQ4G0X9
Ontology : AmiGOheart looping  cilium movement  epithelial cilium movement  regulation of cilium beat frequency  molecular_function  cytoplasm  cilium  axoneme  flagellated sperm motility  lung development  determination of pancreatic left/right asymmetry  inner dynein arm assembly  motile cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  axonemal dynein complex assembly  determination of digestive tract left/right asymmetry  determination of liver left/right asymmetry  
Ontology : EGO-EBIheart looping  cilium movement  epithelial cilium movement  regulation of cilium beat frequency  molecular_function  cytoplasm  cilium  axoneme  flagellated sperm motility  lung development  determination of pancreatic left/right asymmetry  inner dynein arm assembly  motile cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  axonemal dynein complex assembly  determination of digestive tract left/right asymmetry  determination of liver left/right asymmetry  
NDEx NetworkCCDC40
Atlas of Cancer Signalling NetworkCCDC40
Wikipedia pathwaysCCDC40
Orthology - Evolution
OrthoDB55036
GeneTree (enSembl)ENSG00000141519
Phylogenetic Trees/Animal Genes : TreeFamCCDC40
HOVERGENQ4G0X9
HOGENOMQ4G0X9
Homologs : HomoloGeneCCDC40
Homology/Alignments : Family Browser (UCSC)CCDC40
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC40
dbVarCCDC40
ClinVarCCDC40
1000_GenomesCCDC40 
Exome Variant ServerCCDC40
ExAC (Exome Aggregation Consortium)CCDC40 (select the gene name)
Genetic variants : HAPMAP55036
Genomic Variants (DGV)CCDC40 [DGVbeta]
DECIPHERCCDC40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC40 
Mutations
ICGC Data PortalCCDC40 
TCGA Data PortalCCDC40 
Broad Tumor PortalCCDC40
OASIS PortalCCDC40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC40
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 CCDC40
DgiDB (Drug Gene Interaction Database)CCDC40
DoCM (Curated mutations)CCDC40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC40 (select a term)
intoGenCCDC40
Cancer3DCCDC40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613799    613808   
Orphanet665   
MedgenCCDC40
Genetic Testing Registry CCDC40
NextProtQ4G0X9 [Medical]
TSGene55036
GENETestsCCDC40
Target ValidationCCDC40
Huge Navigator CCDC40 [HugePedia]
snp3D : Map Gene to Disease55036
BioCentury BCIQCCDC40
ClinGenCCDC40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55036
Chemical/Pharm GKB GenePA142672195
Clinical trialCCDC40
Miscellaneous
canSAR (ICR)CCDC40 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC40
EVEXCCDC40
GoPubMedCCDC40
iHOPCCDC40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:04:12 CEST 2017

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