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CCDC117 (coiled-coil domain containing 117)

Identity

Alias (NCBI)dJ366L4.1
HGNC (Hugo) CCDC117
HGNC Alias symbFLJ33814
LocusID (NCBI) 150275
Atlas_Id 61473
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 28772674 and ends at 28789301 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)
CCDC117 (22q12.1) / BLMH (17q11.2)CCDC117 (22q12.1) / CCDC117 (22q12.1)CCDC117 (22q12.1) / ITGB1 (10p11.22)
CCDC117 (22q12.1) / OSTF1 (9q21.13)CCDC117 (22q12.1) / UXT (Xp11.23)PITPNB (22q12.1) / CCDC117 (22q12.1)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(9;22)(q21;q12) CCDC117/OSTF1
t(11;22)(p15;q12) CCDC117/TNNI2

External links

Nomenclature
HGNC (Hugo)CCDC117   26599
Cards
Entrez_Gene (NCBI)CCDC117    coiled-coil domain containing 117
AliasesdJ366L4.1
GeneCards (Weizmann)CCDC117
Ensembl hg19 (Hinxton)ENSG00000159873 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159873 [Gene_View]  ENSG00000159873 [Sequence]  chr22:28772674-28789301 [Contig_View]  CCDC117 [Vega]
ICGC DataPortalENSG00000159873
TCGA cBioPortalCCDC117
AceView (NCBI)CCDC117
Genatlas (Paris)CCDC117
SOURCE (Princeton)CCDC117
Genetics Home Reference (NIH)CCDC117
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC117  -     chr22:28772674-28789301 +  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC117  -     22q12.1   [Description]    (hg19-Feb_2009)
GoldenPathCCDC117 - 22q12.1 [CytoView hg19]  CCDC117 - 22q12.1 [CytoView hg38]
ImmunoBaseENSG00000159873
genome Data Viewer NCBICCDC117 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK091133 AK092636 AK127794 AK289516 AK295140
RefSeq transcript (Entrez)NM_001284263 NM_001284264 NM_001284265 NM_173510
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC117
Alternative Splicing GalleryENSG00000159873
Gene ExpressionCCDC117 [ NCBI-GEO ]   CCDC117 [ EBI - ARRAY_EXPRESS ]   CCDC117 [ SEEK ]   CCDC117 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC117 [ Firebrowse - Broad ]
GenevisibleExpression of CCDC117 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150275
GTEX Portal (Tissue expression)CCDC117
Human Protein AtlasENSG00000159873-CCDC117 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWD4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWD4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWD4
Splice isoforms : SwissVarQ8IWD4
PhosPhoSitePlusQ8IWD4
Domains : Interpro (EBI)CCDC117   
Domain families : Pfam (Sanger)CCDC117 (PF15810)   
Domain families : Pfam (NCBI)pfam15810   
Conserved Domain (NCBI)CCDC117
Blocks (Seattle)CCDC117
SuperfamilyQ8IWD4
Human Protein Atlas [tissue]ENSG00000159873-CCDC117 [tissue]
Peptide AtlasQ8IWD4
HPRD08167
IPIIPI00641570   IPI00878039   IPI00797343   IPI00877844   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWD4
IntAct (EBI)Q8IWD4
BioGRIDCCDC117
STRING (EMBL)CCDC117
ZODIACCCDC117
Ontologies - Pathways
QuickGOQ8IWD4
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkCCDC117
Atlas of Cancer Signalling NetworkCCDC117
Wikipedia pathwaysCCDC117
Orthology - Evolution
OrthoDB150275
GeneTree (enSembl)ENSG00000159873
Phylogenetic Trees/Animal Genes : TreeFamCCDC117
HOGENOMQ8IWD4
Homologs : HomoloGeneCCDC117
Homology/Alignments : Family Browser (UCSC)CCDC117
Gene fusions - Rearrangements
Fusion : QuiverCCDC117
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC117 [hg38]
dbVarCCDC117
ClinVarCCDC117
MonarchCCDC117
1000_GenomesCCDC117 
Exome Variant ServerCCDC117
GNOMAD BrowserENSG00000159873
Varsome BrowserCCDC117
Genomic Variants (DGV)CCDC117 [DGVbeta]
DECIPHERCCDC117 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC117 
Mutations
ICGC Data PortalCCDC117 
TCGA Data PortalCCDC117 
Broad Tumor PortalCCDC117
OASIS PortalCCDC117 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC117  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCCDC117
Mutations and Diseases : HGMDCCDC117
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CCDC117
DgiDB (Drug Gene Interaction Database)CCDC117
DoCM (Curated mutations)CCDC117 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC117 (select a term)
intoGenCCDC117
Cancer3DCCDC117(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETCCDC117
MedgenCCDC117
Genetic Testing Registry CCDC117
NextProtQ8IWD4 [Medical]
GENETestsCCDC117
Target ValidationCCDC117
Huge Navigator CCDC117 [HugePedia]
ClinGenCCDC117
Clinical trials, drugs, therapy
MyCancerGenomeCCDC117
Protein Interactions : CTD
Pharm GKB GenePA145149315
Clinical trialCCDC117
Miscellaneous
canSAR (ICR)CCDC117 (select the gene name)
HarmonizomeCCDC117
DataMed IndexCCDC117
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC117
EVEXCCDC117
GoPubMedCCDC117
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:48:54 CET 2020
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