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RPUSD1 (RNA pseudouridylate synthase domain containing 1)

Identity

Alias_namesC16orf40
chromosome 16 open reading frame 40
Alias_symbol (synonym)RLUCL
MGC19600
Other alias
HGNC (Hugo) RPUSD1
LocusID (NCBI) 113000
Atlas_Id 72881
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 784974 and ends at 788383 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RPUSD1 (16p13.3) / ITGB4 (17q25.1)

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)RPUSD1   14173
Cards
Entrez_Gene (NCBI)RPUSD1  113000  RNA pseudouridylate synthase domain containing 1
AliasesC16orf40; RLUCL
GeneCards (Weizmann)RPUSD1
Ensembl hg19 (Hinxton)ENSG00000007376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007376 [Gene_View]  chr16:784974-788383 [Contig_View]  RPUSD1 [Vega]
ICGC DataPortalENSG00000007376
TCGA cBioPortalRPUSD1
AceView (NCBI)RPUSD1
Genatlas (Paris)RPUSD1
WikiGenes113000
SOURCE (Princeton)RPUSD1
Genetics Home Reference (NIH)RPUSD1
Genomic and cartography
GoldenPath hg38 (UCSC)RPUSD1  -     chr16:784974-788383 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPUSD1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblRPUSD1 - 16p13.3 [CytoView hg19]  RPUSD1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIRPUSD1 [Mapview hg19]  RPUSD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AL514840 AL520203 BC011783 BC012951 BC036279
RefSeq transcript (Entrez)NM_001324086 NM_001324410 NM_001324411 NM_001324412 NM_001324413 NM_001324414 NM_001324415 NM_058192
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPUSD1
Cluster EST : UnigeneHs.101742 [ NCBI ]
CGAP (NCI)Hs.101742
Alternative Splicing GalleryENSG00000007376
Gene ExpressionRPUSD1 [ NCBI-GEO ]   RPUSD1 [ EBI - ARRAY_EXPRESS ]   RPUSD1 [ SEEK ]   RPUSD1 [ MEM ]
Gene Expression Viewer (FireBrowse)RPUSD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)113000
GTEX Portal (Tissue expression)RPUSD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UJJ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UJJ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UJJ7
Splice isoforms : SwissVarQ9UJJ7
PhosPhoSitePlusQ9UJJ7
Domains : Interpro (EBI)PsdUridine_synth_cat_dom    PsdUridine_synth_RsuA/RluD   
Domain families : Pfam (Sanger)PseudoU_synth_2 (PF00849)   
Domain families : Pfam (NCBI)pfam00849   
Conserved Domain (NCBI)RPUSD1
DMDM Disease mutations113000
Blocks (Seattle)RPUSD1
SuperfamilyQ9UJJ7
Human Protein AtlasENSG00000007376
Peptide AtlasQ9UJJ7
HPRD08507
IPIIPI00016510   IPI00981428   
Protein Interaction databases
DIP (DOE-UCLA)Q9UJJ7
IntAct (EBI)Q9UJJ7
FunCoupENSG00000007376
BioGRIDRPUSD1
STRING (EMBL)RPUSD1
ZODIACRPUSD1
Ontologies - Pathways
QuickGOQ9UJJ7
Ontology : AmiGOpseudouridine synthesis  molecular_function  RNA binding  cellular_component  biological_process  pseudouridine synthase activity  
Ontology : EGO-EBIpseudouridine synthesis  molecular_function  RNA binding  cellular_component  biological_process  pseudouridine synthase activity  
NDEx NetworkRPUSD1
Atlas of Cancer Signalling NetworkRPUSD1
Wikipedia pathwaysRPUSD1
Orthology - Evolution
OrthoDB113000
GeneTree (enSembl)ENSG00000007376
Phylogenetic Trees/Animal Genes : TreeFamRPUSD1
HOVERGENQ9UJJ7
HOGENOMQ9UJJ7
Homologs : HomoloGeneRPUSD1
Homology/Alignments : Family Browser (UCSC)RPUSD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPUSD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPUSD1
dbVarRPUSD1
ClinVarRPUSD1
1000_GenomesRPUSD1 
Exome Variant ServerRPUSD1
ExAC (Exome Aggregation Consortium)RPUSD1 (select the gene name)
Genetic variants : HAPMAP113000
Genomic Variants (DGV)RPUSD1 [DGVbeta]
DECIPHERRPUSD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPUSD1 
Mutations
ICGC Data PortalRPUSD1 
TCGA Data PortalRPUSD1 
Broad Tumor PortalRPUSD1
OASIS PortalRPUSD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPUSD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPUSD1
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 RPUSD1
DgiDB (Drug Gene Interaction Database)RPUSD1
DoCM (Curated mutations)RPUSD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPUSD1 (select a term)
intoGenRPUSD1
Cancer3DRPUSD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRPUSD1
Genetic Testing Registry RPUSD1
NextProtQ9UJJ7 [Medical]
TSGene113000
GENETestsRPUSD1
Target ValidationRPUSD1
Huge Navigator RPUSD1 [HugePedia]
snp3D : Map Gene to Disease113000
BioCentury BCIQRPUSD1
ClinGenRPUSD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD113000
Chemical/Pharm GKB GenePA25556
Clinical trialRPUSD1
Miscellaneous
canSAR (ICR)RPUSD1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPUSD1
EVEXRPUSD1
GoPubMedRPUSD1
iHOPRPUSD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:36:55 CEST 2017

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