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CCDC120 (coiled-coil domain containing 120)

Identity

Alias_symbol (synonym)JM11
Other alias
HGNC (Hugo) CCDC120
LocusID (NCBI) 90060
Atlas_Id 53648
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48916497 and ends at 48927510 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC120 (Xp11.23) / CCDC120 (Xp11.23)CCDC120 (Xp11.23) / PPP1R13L (19q13.32)MYL2 (12q24.11) / CCDC120 (Xp11.23)
PPP1R3F (Xp11.23) / CCDC120 (Xp11.23)PPP1R3F Xp11.23 / CCDC120 Xp11.23

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)CCDC120   28910
Cards
Entrez_Gene (NCBI)CCDC120  90060  coiled-coil domain containing 120
AliasesJM11
GeneCards (Weizmann)CCDC120
Ensembl hg19 (Hinxton)ENSG00000147144 [Gene_View]  chrX:48916497-48927510 [Contig_View]  CCDC120 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147144 [Gene_View]  chrX:48916497-48927510 [Contig_View]  CCDC120 [Vega]
ICGC DataPortalENSG00000147144
TCGA cBioPortalCCDC120
AceView (NCBI)CCDC120
Genatlas (Paris)CCDC120
WikiGenes90060
SOURCE (Princeton)CCDC120
Genetics Home Reference (NIH)CCDC120
Genomic and cartography
GoldenPath hg19 (UCSC)CCDC120  -     chrX:48916497-48927510 +  Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCDC120  -     Xp11.23   [Description]    (hg38-Dec_2013)
EnsemblCCDC120 - Xp11.23 [CytoView hg19]  CCDC120 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBICCDC120 [Mapview hg19]  CCDC120 [Mapview hg38]
OMIM300947   
Gene and transcription
Genbank (Entrez)AK001937 AK056290 AK125424 AK291370 AK293898
RefSeq transcript (Entrez)NM_001163321 NM_001163322 NM_001163323 NM_001271835 NM_001271836 NM_033626
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016255 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)CCDC120
Cluster EST : UnigeneHs.522643 [ NCBI ]
CGAP (NCI)Hs.522643
Alternative Splicing GalleryENSG00000147144
Gene ExpressionCCDC120 [ NCBI-GEO ]   CCDC120 [ EBI - ARRAY_EXPRESS ]   CCDC120 [ SEEK ]   CCDC120 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC120 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90060
GTEX Portal (Tissue expression)CCDC120
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HB5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HB5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HB5
Splice isoforms : SwissVarQ96HB5
PhosPhoSitePlusQ96HB5
Domains : Interpro (EBI)DUF3338   
Domain families : Pfam (Sanger)DUF3338 (PF11819)   
Domain families : Pfam (NCBI)pfam11819   
Conserved Domain (NCBI)CCDC120
DMDM Disease mutations90060
Blocks (Seattle)CCDC120
SuperfamilyQ96HB5
Human Protein AtlasENSG00000147144
Peptide AtlasQ96HB5
HPRD06595
IPIIPI00942201   IPI00181265   IPI00943897   IPI00943718   
Protein Interaction databases
DIP (DOE-UCLA)Q96HB5
IntAct (EBI)Q96HB5
FunCoupENSG00000147144
BioGRIDCCDC120
STRING (EMBL)CCDC120
ZODIACCCDC120
Ontologies - Pathways
QuickGOQ96HB5
Ontology : AmiGOprotein binding  endosome  multicellular organism development  growth cone  
Ontology : EGO-EBIprotein binding  endosome  multicellular organism development  growth cone  
NDEx NetworkCCDC120
Atlas of Cancer Signalling NetworkCCDC120
Wikipedia pathwaysCCDC120
Orthology - Evolution
OrthoDB90060
GeneTree (enSembl)ENSG00000147144
Phylogenetic Trees/Animal Genes : TreeFamCCDC120
HOVERGENQ96HB5
HOGENOMQ96HB5
Homologs : HomoloGeneCCDC120
Homology/Alignments : Family Browser (UCSC)CCDC120
Gene fusions - Rearrangements
Fusion : MitelmanPPP1R3F/CCDC120 [Xp11.23/Xp11.23]  [t(X;X)(p11;p11)]  
Fusion: TCGAPPP1R3F Xp11.23 CCDC120 Xp11.23 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC120 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC120
dbVarCCDC120
ClinVarCCDC120
1000_GenomesCCDC120 
Exome Variant ServerCCDC120
ExAC (Exome Aggregation Consortium)CCDC120 (select the gene name)
Genetic variants : HAPMAP90060
Genomic Variants (DGV)CCDC120 [DGVbeta]
DECIPHER (Syndromes)X:48916497-48927510  ENSG00000147144
CONAN: Copy Number AnalysisCCDC120 
Mutations
ICGC Data PortalCCDC120 
TCGA Data PortalCCDC120 
Broad Tumor PortalCCDC120
OASIS PortalCCDC120 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC120  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC120
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch CCDC120
DgiDB (Drug Gene Interaction Database)CCDC120
DoCM (Curated mutations)CCDC120 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC120 (select a term)
intoGenCCDC120
Cancer3DCCDC120(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300947   
Orphanet
MedgenCCDC120
Genetic Testing Registry CCDC120
NextProtQ96HB5 [Medical]
TSGene90060
GENETestsCCDC120
Huge Navigator CCDC120 [HugePedia]
snp3D : Map Gene to Disease90060
BioCentury BCIQCCDC120
ClinGenCCDC120
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90060
Chemical/Pharm GKB GenePA145149329
Clinical trialCCDC120
Miscellaneous
canSAR (ICR)CCDC120 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC120
EVEXCCDC120
GoPubMedCCDC120
iHOPCCDC120
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:54 CET 2017

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