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CCDC40 (coiled-coil domain containing 40)

Identity

Alias (NCBI)CFAP172
CILD15
FAP172
HGNC (Hugo) CCDC40
HGNC Alias symbFLJ20753
KIAA1640
FLJ32021
CILD15
FAP172
LocusID (NCBI) 55036
Atlas_Id 61544
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80036642 and ends at 80100613 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)
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    coiled-coil domain containing 40
AliasesCFAP172; CILD15; FAP172
GeneCards (Weizmann)CCDC40
Ensembl hg19 (Hinxton)ENSG00000141519 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141519 [Gene_View]  ENSG00000141519 [Sequence]  chr17:80036642-80100613 [Contig_View]  CCDC40 [Vega]
ICGC DataPortalENSG00000141519
TCGA cBioPortalCCDC40
AceView (NCBI)CCDC40
Genatlas (Paris)CCDC40
SOURCE (Princeton)CCDC40
Genetics Home Reference (NIH)CCDC40
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC40  -     chr17:80036642-80100613 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC40  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathCCDC40 - 17q25.3 [CytoView hg19]  CCDC40 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000141519
Genome Data Viewer NCBICCDC40 [Mapview hg19]  
OMIM613799   613808   
Gene and transcription
Genbank (Entrez)AB046860 AI393590 AK000760 AK056583 AK130684
RefSeq transcript (Entrez)NM_001243342 NM_001330508 NM_017950
Consensus coding sequences : CCDS (NCBI)CCDC40
Gene ExpressionCCDC40 [ NCBI-GEO ]   CCDC40 [ EBI - ARRAY_EXPRESS ]   CCDC40 [ SEEK ]   CCDC40 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC40 [ Firebrowse - Broad ]
GenevisibleExpression of CCDC40 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55036
GTEX Portal (Tissue expression)CCDC40
Human Protein AtlasENSG00000141519-CCDC40 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ4G0X9
Domains : Interpro (EBI)CCDC40   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CCDC40
SuperfamilyQ4G0X9
AlphaFold pdb e-kbQ4G0X9   
Human Protein Atlas [tissue]ENSG00000141519-CCDC40 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q4G0X9
IntAct (EBI)Q4G0X9
BioGRIDCCDC40
STRING (EMBL)CCDC40
ZODIACCCDC40
Ontologies - Pathways
QuickGOQ4G0X9
Ontology : AmiGOheart looping  heart looping  cilium movement  epithelial cilium movement involved in extracellular fluid movement  regulation of cilium beat frequency  molecular_function  extracellular region  cytoplasm  cytoplasm  cilium  cilium  cilium  axoneme  flagellated sperm motility  lung development  axoneme assembly  determination of pancreatic left/right asymmetry  inner dynein arm assembly  motile cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  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  heart looping  cilium movement  epithelial cilium movement involved in extracellular fluid movement  regulation of cilium beat frequency  molecular_function  extracellular region  cytoplasm  cytoplasm  cilium  cilium  cilium  axoneme  flagellated sperm motility  lung development  axoneme assembly  determination of pancreatic left/right asymmetry  inner dynein arm assembly  motile cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  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
Homologs : HomoloGeneCCDC40
Homology/Alignments : Family Browser (UCSC)CCDC40
Gene fusions - Rearrangements
Fusion : QuiverCCDC40
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC40
dbVarCCDC40
ClinVarCCDC40
MonarchCCDC40
1000_GenomesCCDC40 
Exome Variant ServerCCDC40
GNOMAD BrowserENSG00000141519
Varsome BrowserCCDC40
ACMGCCDC40 variants
VarityQ4G0X9
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]  
Somatic Mutations in Cancer : COSMIC3DCCDC40
Mutations and Diseases : HGMDCCDC40
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCCDC40
DgiDB (Drug Gene Interaction Database)CCDC40
DoCM (Curated mutations)CCDC40
CIViC (Clinical Interpretations of Variants in Cancer)CCDC40
Cancer3DCCDC40
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613799    613808   
Orphanet665   
DisGeNETCCDC40
MedgenCCDC40
Genetic Testing Registry CCDC40
NextProtQ4G0X9 [Medical]
GENETestsCCDC40
Target ValidationCCDC40
Huge Navigator CCDC40 [HugePedia]
ClinGenCCDC40
Clinical trials, drugs, therapy
MyCancerGenomeCCDC40
Protein Interactions : CTDCCDC40
Pharm GKB GenePA142672195
PharosQ4G0X9
Clinical trialCCDC40
Miscellaneous
canSAR (ICR)CCDC40
HarmonizomeCCDC40
DataMed IndexCCDC40
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCCDC40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:45:17 CEST 2021

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