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CCDC130 (coiled-coil domain containing 130)

Identity

Alias_symbol (synonym)MGC10471
Other alias-
HGNC (Hugo) CCDC130
LocusID (NCBI) 81576
Atlas_Id 54195
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 13842574 and ends at 13874112 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC130 (19p13.2) / CCDC130 (19p13.2)DOCK6 (19p13.2) / CCDC130 (19p13.2)ZSWIM4 (19p13.13) / CCDC130 (19p13.2)
DOCK6 19p13.2 / CCDC130 19p13.2ZSWIM4 19p13.13 / CCDC130 19p13.2

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)CCDC130   28118
Cards
Entrez_Gene (NCBI)CCDC130  81576  coiled-coil domain containing 130
Aliases
GeneCards (Weizmann)CCDC130
Ensembl hg19 (Hinxton)ENSG00000104957 [Gene_View]  chr19:13842574-13874112 [Contig_View]  CCDC130 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104957 [Gene_View]  chr19:13842574-13874112 [Contig_View]  CCDC130 [Vega]
ICGC DataPortalENSG00000104957
TCGA cBioPortalCCDC130
AceView (NCBI)CCDC130
Genatlas (Paris)CCDC130
WikiGenes81576
SOURCE (Princeton)CCDC130
Genetics Home Reference (NIH)CCDC130
Genomic and cartography
GoldenPath hg19 (UCSC)CCDC130  -     chr19:13842574-13874112 +  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCDC130  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblCCDC130 - 19p13.2 [CytoView hg19]  CCDC130 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBICCDC130 [Mapview hg19]  CCDC130 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA480850 AF250306 AK098262 AK293927 AL560878
RefSeq transcript (Entrez)NM_001320561 NM_001320564 NM_001320565 NM_001320566 NM_001320567 NM_001320568 NM_001320569 NM_030818
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)CCDC130
Cluster EST : UnigeneHs.734421 [ NCBI ]
CGAP (NCI)Hs.734421
Alternative Splicing GalleryENSG00000104957
Gene ExpressionCCDC130 [ NCBI-GEO ]   CCDC130 [ EBI - ARRAY_EXPRESS ]   CCDC130 [ SEEK ]   CCDC130 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC130 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81576
GTEX Portal (Tissue expression)CCDC130
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13994   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13994  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13994
Splice isoforms : SwissVarP13994
PhosPhoSitePlusP13994
Domains : Interpro (EBI)CWC16   
Domain families : Pfam (Sanger)DUF572 (PF04502)   
Domain families : Pfam (NCBI)pfam04502   
Conserved Domain (NCBI)CCDC130
DMDM Disease mutations81576
Blocks (Seattle)CCDC130
SuperfamilyP13994
Human Protein AtlasENSG00000104957
Peptide AtlasP13994
HPRD11304
IPIIPI00011306   IPI00922527   
Protein Interaction databases
DIP (DOE-UCLA)P13994
IntAct (EBI)P13994
FunCoupENSG00000104957
BioGRIDCCDC130
STRING (EMBL)CCDC130
ZODIACCCDC130
Ontologies - Pathways
QuickGOP13994
Ontology : AmiGOprotein binding  cellular_component  response to virus  
Ontology : EGO-EBIprotein binding  cellular_component  response to virus  
NDEx NetworkCCDC130
Atlas of Cancer Signalling NetworkCCDC130
Wikipedia pathwaysCCDC130
Orthology - Evolution
OrthoDB81576
GeneTree (enSembl)ENSG00000104957
Phylogenetic Trees/Animal Genes : TreeFamCCDC130
HOVERGENP13994
HOGENOMP13994
Homologs : HomoloGeneCCDC130
Homology/Alignments : Family Browser (UCSC)CCDC130
Gene fusions - Rearrangements
Fusion : MitelmanDOCK6/CCDC130 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanZSWIM4/CCDC130 [19p13.13/19p13.2]  [t(19;19)(p13;p13)]  
Fusion: TCGADOCK6 19p13.2 CCDC130 19p13.2 LAML
Fusion: TCGAZSWIM4 19p13.13 CCDC130 19p13.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC130 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC130
dbVarCCDC130
ClinVarCCDC130
1000_GenomesCCDC130 
Exome Variant ServerCCDC130
ExAC (Exome Aggregation Consortium)CCDC130 (select the gene name)
Genetic variants : HAPMAP81576
Genomic Variants (DGV)CCDC130 [DGVbeta]
DECIPHER (Syndromes)19:13842574-13874112  ENSG00000104957
CONAN: Copy Number AnalysisCCDC130 
Mutations
ICGC Data PortalCCDC130 
TCGA Data PortalCCDC130 
Broad Tumor PortalCCDC130
OASIS PortalCCDC130 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC130  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC130
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 CCDC130
DgiDB (Drug Gene Interaction Database)CCDC130
DoCM (Curated mutations)CCDC130 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC130 (select a term)
intoGenCCDC130
Cancer3DCCDC130(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCCDC130
Genetic Testing Registry CCDC130
NextProtP13994 [Medical]
TSGene81576
GENETestsCCDC130
Huge Navigator CCDC130 [HugePedia]
snp3D : Map Gene to Disease81576
BioCentury BCIQCCDC130
ClinGenCCDC130
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81576
Chemical/Pharm GKB GenePA162381331
Clinical trialCCDC130
Miscellaneous
canSAR (ICR)CCDC130 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC130
EVEXCCDC130
GoPubMedCCDC130
iHOPCCDC130
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:55:13 CEST 2017

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