Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EXOSC4 (exosome component 4)

Identity

Alias_symbol (synonym)hRrp41p
FLJ20591
Rrp41p
RRP41
RRP41A
Ski6p
SKI6
p12A
Other alias
HGNC (Hugo) EXOSC4
LocusID (NCBI) 54512
Atlas_Id 62952
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144078619 and ends at 144080648 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)

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)EXOSC4   18189
Cards
Entrez_Gene (NCBI)EXOSC4  54512  exosome component 4
AliasesRRP41; RRP41A; Rrp41p; SKI6; 
Ski6p; hRrp41p; p12A
GeneCards (Weizmann)EXOSC4
Ensembl hg19 (Hinxton)ENSG00000178896 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178896 [Gene_View]  chr8:144078619-144080648 [Contig_View]  EXOSC4 [Vega]
ICGC DataPortalENSG00000178896
TCGA cBioPortalEXOSC4
AceView (NCBI)EXOSC4
Genatlas (Paris)EXOSC4
WikiGenes54512
SOURCE (Princeton)EXOSC4
Genetics Home Reference (NIH)EXOSC4
Genomic and cartography
GoldenPath hg38 (UCSC)EXOSC4  -     chr8:144078619-144080648 +  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXOSC4  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblEXOSC4 - 8q24.3 [CytoView hg19]  EXOSC4 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIEXOSC4 [Mapview hg19]  EXOSC4 [Mapview hg38]
OMIM606491   
Gene and transcription
Genbank (Entrez)AF281133 AK000598 BC002777 BM839994 JF432617
RefSeq transcript (Entrez)NM_019037
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXOSC4
Cluster EST : UnigeneHs.632041 [ NCBI ]
CGAP (NCI)Hs.632041
Alternative Splicing GalleryENSG00000178896
Gene ExpressionEXOSC4 [ NCBI-GEO ]   EXOSC4 [ EBI - ARRAY_EXPRESS ]   EXOSC4 [ SEEK ]   EXOSC4 [ MEM ]
Gene Expression Viewer (FireBrowse)EXOSC4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54512
GTEX Portal (Tissue expression)EXOSC4
Human Protein AtlasENSG00000178896-EXOSC4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPD3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPD3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPD3
Splice isoforms : SwissVarQ9NPD3
PhosPhoSitePlusQ9NPD3
Domains : Interpro (EBI)ExoRNase_PH_dom1    ExoRNase_PH_dom2    PNPase/RNase_PH_dom    Ribosomal_S5_D2-typ_fold   
Domain families : Pfam (Sanger)RNase_PH (PF01138)    RNase_PH_C (PF03725)   
Domain families : Pfam (NCBI)pfam01138    pfam03725   
Conserved Domain (NCBI)EXOSC4
DMDM Disease mutations54512
Blocks (Seattle)EXOSC4
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   
SuperfamilyQ9NPD3
Human Protein Atlas [tissue]ENSG00000178896-EXOSC4 [tissue]
Peptide AtlasQ9NPD3
HPRD16221
IPIIPI00745613   IPI00978024   IPI00982431   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPD3
IntAct (EBI)Q9NPD3
FunCoupENSG00000178896
BioGRIDEXOSC4
STRING (EMBL)EXOSC4
ZODIACEXOSC4
Ontologies - Pathways
QuickGOQ9NPD3
Ontology : AmiGO3'-5'-exoribonuclease activity  nuclear exosome (RNase complex)  cytoplasmic exosome (RNase complex)  exosome (RNase complex)  maturation of 5.8S rRNA  nuclear-transcribed mRNA catabolic process  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytoplasm  cytosol  cytosol  rRNA processing  rRNA processing  rRNA catabolic process  AU-rich element binding  positive regulation of cell growth  rRNA 3'-end processing  nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'  U4 snRNA 3'-end processing  transcriptionally active chromatin  regulation of mRNA stability  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  DNA deamination  intermediate filament cytoskeleton  defense response to virus  nuclear mRNA surveillance  histone mRNA catabolic process  polyadenylation-dependent snoRNA 3'-end processing  RNA phosphodiester bond hydrolysis, exonucleolytic  
Ontology : EGO-EBI3'-5'-exoribonuclease activity  nuclear exosome (RNase complex)  cytoplasmic exosome (RNase complex)  exosome (RNase complex)  maturation of 5.8S rRNA  nuclear-transcribed mRNA catabolic process  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytoplasm  cytosol  cytosol  rRNA processing  rRNA processing  rRNA catabolic process  AU-rich element binding  positive regulation of cell growth  rRNA 3'-end processing  nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'  U4 snRNA 3'-end processing  transcriptionally active chromatin  regulation of mRNA stability  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  DNA deamination  intermediate filament cytoskeleton  defense response to virus  nuclear mRNA surveillance  histone mRNA catabolic process  polyadenylation-dependent snoRNA 3'-end processing  RNA phosphodiester bond hydrolysis, exonucleolytic  
Pathways : KEGGRNA degradation   
NDEx NetworkEXOSC4
Atlas of Cancer Signalling NetworkEXOSC4
Wikipedia pathwaysEXOSC4
Orthology - Evolution
OrthoDB54512
GeneTree (enSembl)ENSG00000178896
Phylogenetic Trees/Animal Genes : TreeFamEXOSC4
HOVERGENQ9NPD3
HOGENOMQ9NPD3
Homologs : HomoloGeneEXOSC4
Homology/Alignments : Family Browser (UCSC)EXOSC4
Gene fusions - Rearrangements
Tumor Fusion PortalEXOSC4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXOSC4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXOSC4
dbVarEXOSC4
ClinVarEXOSC4
1000_GenomesEXOSC4 
Exome Variant ServerEXOSC4
ExAC (Exome Aggregation Consortium)ENSG00000178896
GNOMAD BrowserENSG00000178896
Genetic variants : HAPMAP54512
Genomic Variants (DGV)EXOSC4 [DGVbeta]
DECIPHEREXOSC4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXOSC4 
Mutations
ICGC Data PortalEXOSC4 
TCGA Data PortalEXOSC4 
Broad Tumor PortalEXOSC4
OASIS PortalEXOSC4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXOSC4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXOSC4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EXOSC4
DgiDB (Drug Gene Interaction Database)EXOSC4
DoCM (Curated mutations)EXOSC4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXOSC4 (select a term)
intoGenEXOSC4
Cancer3DEXOSC4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606491   
Orphanet
DisGeNETEXOSC4
MedgenEXOSC4
Genetic Testing Registry EXOSC4
NextProtQ9NPD3 [Medical]
TSGene54512
GENETestsEXOSC4
Target ValidationEXOSC4
Huge Navigator EXOSC4 [HugePedia]
snp3D : Map Gene to Disease54512
BioCentury BCIQEXOSC4
ClinGenEXOSC4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54512
Chemical/Pharm GKB GenePA134867931
Clinical trialEXOSC4
Miscellaneous
canSAR (ICR)EXOSC4 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXOSC4
EVEXEXOSC4
GoPubMedEXOSC4
iHOPEXOSC4
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 Nov 21 13:18:07 CET 2017

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