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EXOSC1 (exosome component 1)

Identity

Alias (NCBI)CGI-108
CSL4
Csl4p
PCH1F
SKI4
Ski4p
p13
HGNC (Hugo) EXOSC1
HGNC Alias symbhCsl4p
Csl4p
CSL4
Ski4p
SKI4
CGI-108
p13
HGNC Alias nameCSL4 exosomal core protein homolog (yeast)
LocusID (NCBI) 51013
Atlas_Id 56840
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 97435909 and ends at 97446006 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)
EXOSC1 (10q24.1) / CRTAC1 (10q24.2)EXOSC1 (10q24.1) / EXOSC1 (10q24.1)RRP12 (10q24.1) / EXOSC1 (10q24.1)

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

 



External links

 

Nomenclature
HGNC (Hugo)EXOSC1   17286
Cards
Entrez_Gene (NCBI)EXOSC1    exosome component 1
AliasesCGI-108; CSL4; Csl4p; PCH1F; 
SKI4; Ski4p; p13
GeneCards (Weizmann)EXOSC1
Ensembl hg19 (Hinxton)ENSG00000171311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171311 [Gene_View]  ENSG00000171311 [Sequence]  chr10:97435909-97446006 [Contig_View]  EXOSC1 [Vega]
ICGC DataPortalENSG00000171311
TCGA cBioPortalEXOSC1
AceView (NCBI)EXOSC1
Genatlas (Paris)EXOSC1
SOURCE (Princeton)EXOSC1
Genetics Home Reference (NIH)EXOSC1
Genomic and cartography
GoldenPath hg38 (UCSC)EXOSC1  -     chr10:97435909-97446006 -  10q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXOSC1  -     10q24.1   [Description]    (hg19-Feb_2009)
GoldenPathEXOSC1 - 10q24.1 [CytoView hg19]  EXOSC1 - 10q24.1 [CytoView hg38]
ImmunoBaseENSG00000171311
Genome Data Viewer NCBIEXOSC1 [Mapview hg19]  
OMIM606493   619304   
Gene and transcription
Genbank (Entrez)AF151866 AK091709 AK307229 AK313717 AW954858
RefSeq transcript (Entrez)NM_001318362 NM_001318363 NM_001318364 NM_001318365 NM_001318366 NM_016046
Consensus coding sequences : CCDS (NCBI)EXOSC1
Gene ExpressionEXOSC1 [ NCBI-GEO ]   EXOSC1 [ EBI - ARRAY_EXPRESS ]   EXOSC1 [ SEEK ]   EXOSC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EXOSC1 [ Firebrowse - Broad ]
GenevisibleExpression of EXOSC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51013
GTEX Portal (Tissue expression)EXOSC1
Human Protein AtlasENSG00000171311-EXOSC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3B2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3B2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3B2
PhosPhoSitePlusQ9Y3B2
Domains : Interpro (EBI)Csl4    EXOSC1_C    Exosome_cplx_N_dom    NA-bd_OB-fold    S1_dom   
Domain families : Pfam (Sanger)ECR1_N (PF14382)    EXOSC1 (PF10447)   
Domain families : Pfam (NCBI)pfam14382    pfam10447   
Domain families : Smart (EMBL)S1 (SM00316)  
Conserved Domain (NCBI)EXOSC1
PDB (RSDB)2NN6    6D6Q    6D6R    6H25   
PDB Europe2NN6    6D6Q    6D6R    6H25   
PDB (PDBSum)2NN6    6D6Q    6D6R    6H25   
PDB (IMB)2NN6    6D6Q    6D6R    6H25   
Structural Biology KnowledgeBase2NN6    6D6Q    6D6R    6H25   
SCOP (Structural Classification of Proteins)2NN6    6D6Q    6D6R    6H25   
CATH (Classification of proteins structures)2NN6    6D6Q    6D6R    6H25   
SuperfamilyQ9Y3B2
AlphaFold pdb e-kbQ9Y3B2   
Human Protein Atlas [tissue]ENSG00000171311-EXOSC1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3B2
IntAct (EBI)Q9Y3B2
BioGRIDEXOSC1
STRING (EMBL)EXOSC1
ZODIACEXOSC1
Ontologies - Pathways
QuickGOQ9Y3B2
Ontology : AmiGOnuclear exosome (RNase complex)  exosome (RNase complex)  exosome (RNase complex)  RNA binding  exoribonuclease activity  protein binding  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  regulation of mRNA stability  exonucleolytic catabolism of deadenylated mRNA  RNA phosphodiester bond hydrolysis, exonucleolytic  
Ontology : EGO-EBInuclear exosome (RNase complex)  exosome (RNase complex)  exosome (RNase complex)  RNA binding  exoribonuclease activity  protein binding  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  regulation of mRNA stability  exonucleolytic catabolism of deadenylated mRNA  RNA phosphodiester bond hydrolysis, exonucleolytic  
Pathways : KEGGRNA degradation   
NDEx NetworkEXOSC1
Atlas of Cancer Signalling NetworkEXOSC1
Wikipedia pathwaysEXOSC1
Orthology - Evolution
OrthoDB51013
GeneTree (enSembl)ENSG00000171311
Phylogenetic Trees/Animal Genes : TreeFamEXOSC1
Homologs : HomoloGeneEXOSC1
Homology/Alignments : Family Browser (UCSC)EXOSC1
Gene fusions - Rearrangements
Fusion : QuiverEXOSC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXOSC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXOSC1
dbVarEXOSC1
ClinVarEXOSC1
MonarchEXOSC1
1000_GenomesEXOSC1 
Exome Variant ServerEXOSC1
GNOMAD BrowserENSG00000171311
Varsome BrowserEXOSC1
ACMGEXOSC1 variants
VarityQ9Y3B2
Genomic Variants (DGV)EXOSC1 [DGVbeta]
DECIPHEREXOSC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXOSC1 
Mutations
ICGC Data PortalEXOSC1 
TCGA Data PortalEXOSC1 
Broad Tumor PortalEXOSC1
OASIS PortalEXOSC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXOSC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEXOSC1
Mutations and Diseases : HGMDEXOSC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEXOSC1
DgiDB (Drug Gene Interaction Database)EXOSC1
DoCM (Curated mutations)EXOSC1
CIViC (Clinical Interpretations of Variants in Cancer)EXOSC1
Cancer3DEXOSC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606493    619304   
Orphanet
DisGeNETEXOSC1
MedgenEXOSC1
Genetic Testing Registry EXOSC1
NextProtQ9Y3B2 [Medical]
GENETestsEXOSC1
Target ValidationEXOSC1
Huge Navigator EXOSC1 [HugePedia]
ClinGenEXOSC1
Clinical trials, drugs, therapy
MyCancerGenomeEXOSC1
Protein Interactions : CTDEXOSC1
Pharm GKB GenePA134900737
PharosQ9Y3B2
Clinical trialEXOSC1
Miscellaneous
canSAR (ICR)EXOSC1
HarmonizomeEXOSC1
DataMed IndexEXOSC1
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEXOSC1
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 15:08:39 CEST 2021

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