Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EXOSC1 (exosome component 1)

Identity

Alias_symbol (synonym)hCsl4p
Csl4p
CSL4
Ski4p
SKI4
CGI-108
p13
Other alias
HGNC (Hugo) EXOSC1
LocusID (NCBI) 51013
Atlas_Id 62948
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 99195666 and ends at 99205768 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  51013  exosome component 1
AliasesCGI-108; CSL4; Csl4p; SKI4; 
Ski4p; hCsl4p; p13
GeneCards (Weizmann)EXOSC1
Ensembl hg19 (Hinxton)ENSG00000171311 [Gene_View]  chr10:99195666-99205768 [Contig_View]  EXOSC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171311 [Gene_View]  chr10:99195666-99205768 [Contig_View]  EXOSC1 [Vega]
ICGC DataPortalENSG00000171311
TCGA cBioPortalEXOSC1
AceView (NCBI)EXOSC1
Genatlas (Paris)EXOSC1
WikiGenes51013
SOURCE (Princeton)EXOSC1
Genetics Home Reference (NIH)EXOSC1
Genomic and cartography
GoldenPath hg19 (UCSC)EXOSC1  -     chr10:99195666-99205768 -  10q24.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EXOSC1  -     10q24.1   [Description]    (hg38-Dec_2013)
EnsemblEXOSC1 - 10q24.1 [CytoView hg19]  EXOSC1 - 10q24.1 [CytoView hg38]
Mapping of homologs : NCBIEXOSC1 [Mapview hg19]  EXOSC1 [Mapview hg38]
OMIM606493   
Gene and transcription
Genbank (Entrez)AF151866 AK091709 AK307229 AK313717 BC012538
RefSeq transcript (Entrez)NM_016046
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)EXOSC1
Cluster EST : UnigeneHs.632089 [ NCBI ]
CGAP (NCI)Hs.632089
Alternative Splicing GalleryENSG00000171311
Gene ExpressionEXOSC1 [ NCBI-GEO ]   EXOSC1 [ EBI - ARRAY_EXPRESS ]   EXOSC1 [ SEEK ]   EXOSC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EXOSC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51013
GTEX Portal (Tissue expression)EXOSC1
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
Splice isoforms : SwissVarQ9Y3B2
PhosPhoSitePlusQ9Y3B2
Domains : Interpro (EBI)EXOSC1    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
DMDM Disease mutations51013
Blocks (Seattle)EXOSC1
PDB (SRS)2NN6   
PDB (PDBSum)2NN6   
PDB (IMB)2NN6   
PDB (RSDB)2NN6   
Structural Biology KnowledgeBase2NN6   
SCOP (Structural Classification of Proteins)2NN6   
CATH (Classification of proteins structures)2NN6   
SuperfamilyQ9Y3B2
Human Protein AtlasENSG00000171311
Peptide AtlasQ9Y3B2
HPRD16223
IPIIPI00032823   IPI00552886   IPI00552556   IPI00642493   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3B2
IntAct (EBI)Q9Y3B2
FunCoupENSG00000171311
BioGRIDEXOSC1
STRING (EMBL)EXOSC1
ZODIACEXOSC1
Ontologies - Pathways
QuickGOQ9Y3B2
Ontology : AmiGOnuclear exosome (RNase complex)  exosome (RNase complex)  exosome (RNase complex)  nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  RNA binding  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  gene expression  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  
Ontology : EGO-EBInuclear exosome (RNase complex)  exosome (RNase complex)  exosome (RNase complex)  nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  RNA binding  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  gene expression  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  
Pathways : KEGGRNA degradation   
NDEx NetworkEXOSC1
Atlas of Cancer Signalling NetworkEXOSC1
Wikipedia pathwaysEXOSC1
Orthology - Evolution
OrthoDB51013
GeneTree (enSembl)ENSG00000171311
Phylogenetic Trees/Animal Genes : TreeFamEXOSC1
HOVERGENQ9Y3B2
HOGENOMQ9Y3B2
Homologs : HomoloGeneEXOSC1
Homology/Alignments : Family Browser (UCSC)EXOSC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXOSC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXOSC1
dbVarEXOSC1
ClinVarEXOSC1
1000_GenomesEXOSC1 
Exome Variant ServerEXOSC1
ExAC (Exome Aggregation Consortium)EXOSC1 (select the gene name)
Genetic variants : HAPMAP51013
Genomic Variants (DGV)EXOSC1 [DGVbeta]
DECIPHER (Syndromes)10:99195666-99205768  ENSG00000171311
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]  
Mutations and Diseases : HGMDEXOSC1
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 EXOSC1
DgiDB (Drug Gene Interaction Database)EXOSC1
DoCM (Curated mutations)EXOSC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXOSC1 (select a term)
intoGenEXOSC1
Cancer3DEXOSC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606493   
Orphanet
MedgenEXOSC1
Genetic Testing Registry EXOSC1
NextProtQ9Y3B2 [Medical]
TSGene51013
GENETestsEXOSC1
Huge Navigator EXOSC1 [HugePedia]
snp3D : Map Gene to Disease51013
BioCentury BCIQEXOSC1
ClinGenEXOSC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51013
Chemical/Pharm GKB GenePA134900737
Clinical trialEXOSC1
Miscellaneous
canSAR (ICR)EXOSC1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXOSC1
EVEXEXOSC1
GoPubMedEXOSC1
iHOPEXOSC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:03:16 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.