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CCDC30 (coiled-coil domain containing 30)

Identity

Alias_symbol (synonym)FLJ20972
PFD6L
LOC728621
Other aliasPFDN6L
HGNC (Hugo) CCDC30
LocusID (NCBI) 728621
Atlas_Id 54196
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 42534889 and ends at 42654664 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP10 (4q31.23) / CCDC30 (1p34.2)CCDC30 (1p34.2) / SCYL1 (11q13.1)PPCS (1p34.2) / CCDC30 (1p34.2)

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)CCDC30   26103
Cards
Entrez_Gene (NCBI)CCDC30  728621  coiled-coil domain containing 30
AliasesPFD6L; PFDN6L
GeneCards (Weizmann)CCDC30
Ensembl hg19 (Hinxton)ENSG00000186409 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186409 [Gene_View]  chr1:42534889-42654664 [Contig_View]  CCDC30 [Vega]
ICGC DataPortalENSG00000186409
TCGA cBioPortalCCDC30
AceView (NCBI)CCDC30
Genatlas (Paris)CCDC30
WikiGenes728621
SOURCE (Princeton)CCDC30
Genetics Home Reference (NIH)CCDC30
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC30  -     chr1:42534889-42654664 +  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC30  -     1p34.2   [Description]    (hg19-Feb_2009)
EnsemblCCDC30 - 1p34.2 [CytoView hg19]  CCDC30 - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBICCDC30 [Mapview hg19]  CCDC30 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK024625 AK302075 AL832217 AY639646 BX640642
RefSeq transcript (Entrez)NM_001080850
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC30
Cluster EST : UnigeneHs.729640 [ NCBI ]
CGAP (NCI)Hs.729640
Alternative Splicing GalleryENSG00000186409
Gene ExpressionCCDC30 [ NCBI-GEO ]   CCDC30 [ EBI - ARRAY_EXPRESS ]   CCDC30 [ SEEK ]   CCDC30 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)728621
GTEX Portal (Tissue expression)CCDC30
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VVM6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VVM6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VVM6
Splice isoforms : SwissVarQ5VVM6
PhosPhoSitePlusQ5VVM6
Domains : Interpro (EBI)DUF4686   
Domain families : Pfam (Sanger)DUF4686 (PF15742)   
Domain families : Pfam (NCBI)pfam15742   
Conserved Domain (NCBI)CCDC30
DMDM Disease mutations728621
Blocks (Seattle)CCDC30
SuperfamilyQ5VVM6
Human Protein AtlasENSG00000186409
Peptide AtlasQ5VVM6
HPRD08632
IPIIPI00418164   IPI00872645   IPI00017878   IPI00965005   IPI00646980   IPI00967049   IPI01014150   
Protein Interaction databases
DIP (DOE-UCLA)Q5VVM6
IntAct (EBI)Q5VVM6
FunCoupENSG00000186409
BioGRIDCCDC30
STRING (EMBL)CCDC30
ZODIACCCDC30
Ontologies - Pathways
QuickGOQ5VVM6
Ontology : AmiGOextracellular exosome  
Ontology : EGO-EBIextracellular exosome  
NDEx NetworkCCDC30
Atlas of Cancer Signalling NetworkCCDC30
Wikipedia pathwaysCCDC30
Orthology - Evolution
OrthoDB728621
GeneTree (enSembl)ENSG00000186409
Phylogenetic Trees/Animal Genes : TreeFamCCDC30
HOVERGENQ5VVM6
HOGENOMQ5VVM6
Homologs : HomoloGeneCCDC30
Homology/Alignments : Family Browser (UCSC)CCDC30
Gene fusions - Rearrangements
Fusion : MitelmanPPCS/CCDC30 [1p34.2/1p34.2]  [t(1;1)(p34;p34)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC30
dbVarCCDC30
ClinVarCCDC30
1000_GenomesCCDC30 
Exome Variant ServerCCDC30
ExAC (Exome Aggregation Consortium)CCDC30 (select the gene name)
Genetic variants : HAPMAP728621
Genomic Variants (DGV)CCDC30 [DGVbeta]
DECIPHERCCDC30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC30 
Mutations
ICGC Data PortalCCDC30 
TCGA Data PortalCCDC30 
Broad Tumor PortalCCDC30
OASIS PortalCCDC30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC30
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 CCDC30
DgiDB (Drug Gene Interaction Database)CCDC30
DoCM (Curated mutations)CCDC30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC30 (select a term)
intoGenCCDC30
Cancer3DCCDC30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCCDC30
Genetic Testing Registry CCDC30
NextProtQ5VVM6 [Medical]
TSGene728621
GENETestsCCDC30
Target ValidationCCDC30
Huge Navigator CCDC30 [HugePedia]
snp3D : Map Gene to Disease728621
BioCentury BCIQCCDC30
ClinGenCCDC30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD728621
Chemical/Pharm GKB GenePA165750513
Clinical trialCCDC30
Miscellaneous
canSAR (ICR)CCDC30 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC30
EVEXCCDC30
GoPubMedCCDC30
iHOPCCDC30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:59 CEST 2017

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