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RRP8 (ribosomal RNA processing 8, methyltransferase, homolog (yeast))

Identity

Alias_namesKIAA0409
KIAA0409
Alias_symbol (synonym)NML
Other alias
HGNC (Hugo) RRP8
LocusID (NCBI) 23378
Atlas_Id 56563
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 6599914 and ends at 6603650 bp from pter ( according to hg38-Dec_2013)

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)RRP8   29030
Cards
Entrez_Gene (NCBI)RRP8  23378  ribosomal RNA processing 8, methyltransferase, homolog (yeast)
AliasesKIAA0409; NML
GeneCards (Weizmann)RRP8
Ensembl hg19 (Hinxton)ENSG00000132275 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132275 [Gene_View]  chr11:6599914-6603650 [Contig_View]  RRP8 [Vega]
ICGC DataPortalENSG00000132275
TCGA cBioPortalRRP8
AceView (NCBI)RRP8
Genatlas (Paris)RRP8
WikiGenes23378
SOURCE (Princeton)RRP8
Genetics Home Reference (NIH)RRP8
Genomic and cartography
GoldenPath hg38 (UCSC)RRP8  -     chr11:6599914-6603650 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RRP8  -     11p15.4   [Description]    (hg19-Feb_2009)
EnsemblRRP8 - 11p15.4 [CytoView hg19]  RRP8 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBIRRP8 [Mapview hg19]  RRP8 [Mapview hg38]
OMIM615818   
Gene and transcription
Genbank (Entrez)AB007869 BC001071 BX417992 D87060 JF432519
RefSeq transcript (Entrez)NM_015324
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RRP8
Cluster EST : UnigeneHs.652255 [ NCBI ]
CGAP (NCI)Hs.652255
Alternative Splicing GalleryENSG00000132275
Gene ExpressionRRP8 [ NCBI-GEO ]   RRP8 [ EBI - ARRAY_EXPRESS ]   RRP8 [ SEEK ]   RRP8 [ MEM ]
Gene Expression Viewer (FireBrowse)RRP8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23378
GTEX Portal (Tissue expression)RRP8
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43159   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43159  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43159
Splice isoforms : SwissVarO43159
Catalytic activity : Enzyme2.1.1.- [ Enzyme-Expasy ]   2.1.1.-2.1.1.- [ IntEnz-EBI ]   2.1.1.- [ BRENDA ]   2.1.1.- [ KEGG ]   
PhosPhoSitePlusO43159
Domains : Interpro (EBI)RRP8    SAM-dependent_MTases    UbiE/COQ5_MeTrFase_CS   
Domain families : Pfam (Sanger)Methyltransf_8 (PF05148)   
Domain families : Pfam (NCBI)pfam05148   
Conserved Domain (NCBI)RRP8
DMDM Disease mutations23378
Blocks (Seattle)RRP8
PDB (SRS)2ZFU   
PDB (PDBSum)2ZFU   
PDB (IMB)2ZFU   
PDB (RSDB)2ZFU   
Structural Biology KnowledgeBase2ZFU   
SCOP (Structural Classification of Proteins)2ZFU   
CATH (Classification of proteins structures)2ZFU   
SuperfamilyO43159
Human Protein AtlasENSG00000132275
Peptide AtlasO43159
HPRD13800
IPIIPI00304932   IPI00981816   IPI00984224   IPI00983142   
Protein Interaction databases
DIP (DOE-UCLA)O43159
IntAct (EBI)O43159
FunCoupENSG00000132275
BioGRIDRRP8
STRING (EMBL)RRP8
ZODIACRRP8
Ontologies - Pathways
QuickGOO43159
Ontology : AmiGOchromatin silencing at rDNA  chromatin silencing at rDNA  RNA binding  protein binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  cytosol  plasma membrane  transcription, DNA-templated  rRNA processing  S-adenosylmethionine-dependent methyltransferase activity  covalent chromatin modification  methylation  rDNA heterochromatin  methylated histone binding  cellular response to glucose starvation  regulation of transcription by glucose  positive regulation of cell cycle arrest  intrinsic apoptotic signaling pathway by p53 class mediator  
Ontology : EGO-EBIchromatin silencing at rDNA  chromatin silencing at rDNA  RNA binding  protein binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  cytosol  plasma membrane  transcription, DNA-templated  rRNA processing  S-adenosylmethionine-dependent methyltransferase activity  covalent chromatin modification  methylation  rDNA heterochromatin  methylated histone binding  cellular response to glucose starvation  regulation of transcription by glucose  positive regulation of cell cycle arrest  intrinsic apoptotic signaling pathway by p53 class mediator  
NDEx NetworkRRP8
Atlas of Cancer Signalling NetworkRRP8
Wikipedia pathwaysRRP8
Orthology - Evolution
OrthoDB23378
GeneTree (enSembl)ENSG00000132275
Phylogenetic Trees/Animal Genes : TreeFamRRP8
HOVERGENO43159
HOGENOMO43159
Homologs : HomoloGeneRRP8
Homology/Alignments : Family Browser (UCSC)RRP8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRRP8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RRP8
dbVarRRP8
ClinVarRRP8
1000_GenomesRRP8 
Exome Variant ServerRRP8
ExAC (Exome Aggregation Consortium)RRP8 (select the gene name)
Genetic variants : HAPMAP23378
Genomic Variants (DGV)RRP8 [DGVbeta]
DECIPHERRRP8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRRP8 
Mutations
ICGC Data PortalRRP8 
TCGA Data PortalRRP8 
Broad Tumor PortalRRP8
OASIS PortalRRP8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRRP8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRRP8
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 RRP8
DgiDB (Drug Gene Interaction Database)RRP8
DoCM (Curated mutations)RRP8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RRP8 (select a term)
intoGenRRP8
Cancer3DRRP8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615818   
Orphanet
MedgenRRP8
Genetic Testing Registry RRP8
NextProtO43159 [Medical]
TSGene23378
GENETestsRRP8
Target ValidationRRP8
Huge Navigator RRP8 [HugePedia]
snp3D : Map Gene to Disease23378
BioCentury BCIQRRP8
ClinGenRRP8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23378
Chemical/Pharm GKB GenePA164725550
Clinical trialRRP8
Miscellaneous
canSAR (ICR)RRP8 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRRP8
EVEXRRP8
GoPubMedRRP8
iHOPRRP8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:54:04 CEST 2017

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