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RPRD1B (regulation of nuclear pre-mRNA domain containing 1B)

Identity

Alias_namesC20orf77
chromosome 20 open reading frame 77
Alias_symbol (synonym)dJ1057B20.2
DKFZp434P0735
CREPT
FLJ44520
NET60
Other alias
HGNC (Hugo) RPRD1B
LocusID (NCBI) 58490
Atlas_Id 52677
Location 20q11.23  [Link to chromosome band 20q11]
Location_base_pair Starts at 36661948 and ends at 36720766 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACTR5 (20q11.23) / RPRD1B (20q11.23)ANKRD17 (4q13.3) / RPRD1B (20q11.23)RALGAPB (20q11.23) / RPRD1B (20q11.23)
RPRD1B (20q11.23) / ANKRD17 (4q13.3)RPRD1B (20q11.23) / CTNNBL1 (20q11.23)RPRD1B (20q11.23) / NOL3 (16q22.1)
RPRD1B (20q11.23) / ZMYM4 (1p34.3)TRPC4AP (20q11.22) / RPRD1B (20q11.23)UBE2G1 (17p13.2) / RPRD1B (20q11.23)
ACTR5 20q11.23 / RPRD1B 20q11.23ANKRD17 4q13.3 / RPRD1B 20q11.23RALGAPB 20q11.23 / RPRD1B 20q11.23
RPRD1B 20q11.23 / ANKRD17 4q13.3RPRD1B 20q11.23 / CTNNBL1 20q11.23

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)RPRD1B   16209
Cards
Entrez_Gene (NCBI)RPRD1B  58490  regulation of nuclear pre-mRNA domain containing 1B
AliasesC20orf77; CREPT; NET60; dJ1057B20.2
GeneCards (Weizmann)RPRD1B
Ensembl hg19 (Hinxton)ENSG00000101413 [Gene_View]  chr20:36661948-36720766 [Contig_View]  RPRD1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000101413 [Gene_View]  chr20:36661948-36720766 [Contig_View]  RPRD1B [Vega]
ICGC DataPortalENSG00000101413
TCGA cBioPortalRPRD1B
AceView (NCBI)RPRD1B
Genatlas (Paris)RPRD1B
WikiGenes58490
SOURCE (Princeton)RPRD1B
Genetics Home Reference (NIH)RPRD1B
Genomic and cartography
GoldenPath hg19 (UCSC)RPRD1B  -     chr20:36661948-36720766 +  20q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RPRD1B  -     20q11.23   [Description]    (hg38-Dec_2013)
EnsemblRPRD1B - 20q11.23 [CytoView hg19]  RPRD1B - 20q11.23 [CytoView hg38]
Mapping of homologs : NCBIRPRD1B [Mapview hg19]  RPRD1B [Mapview hg38]
OMIM614694   
Gene and transcription
Genbank (Entrez)AK092567 AK126484 AK312468 AL080224 AL117521
RefSeq transcript (Entrez)NM_021215
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)RPRD1B
Cluster EST : UnigeneHs.278839 [ NCBI ]
CGAP (NCI)Hs.278839
Alternative Splicing GalleryENSG00000101413
Gene ExpressionRPRD1B [ NCBI-GEO ]   RPRD1B [ EBI - ARRAY_EXPRESS ]   RPRD1B [ SEEK ]   RPRD1B [ MEM ]
Gene Expression Viewer (FireBrowse)RPRD1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58490
GTEX Portal (Tissue expression)RPRD1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQG5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQG5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQG5
Splice isoforms : SwissVarQ9NQG5
PhosPhoSitePlusQ9NQG5
Domaine pattern : Prosite (Expaxy)CID (PS51391)   
Domains : Interpro (EBI)CID_dom    CREPT    ENTH_VHS    RNA_pol_II-bd   
Domain families : Pfam (Sanger)CREPT (PF16566)    CTD_bind (PF04818)   
Domain families : Pfam (NCBI)pfam16566    pfam04818   
Domain families : Smart (EMBL)RPR (SM00582)  
Conserved Domain (NCBI)RPRD1B
DMDM Disease mutations58490
Blocks (Seattle)RPRD1B
PDB (SRS)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
PDB (PDBSum)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
PDB (IMB)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
PDB (RSDB)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
Structural Biology KnowledgeBase4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
SCOP (Structural Classification of Proteins)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
CATH (Classification of proteins structures)4FLA    4FU3    4HFG    4NAD    4Q94    4Q96   
SuperfamilyQ9NQG5
Human Protein AtlasENSG00000101413
Peptide AtlasQ9NQG5
HPRD08513
IPIIPI00009659   IPI00465421   IPI00797536   IPI00982345   IPI00976316   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQG5
IntAct (EBI)Q9NQG5
FunCoupENSG00000101413
BioGRIDRPRD1B
STRING (EMBL)RPRD1B
ZODIACRPRD1B
Ontologies - Pathways
QuickGOQ9NQG5
Ontology : AmiGORNA polymerase II core binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  positive regulation of cell proliferation  regulation of cell cycle process  DNA-directed RNA polymerase II, holoenzyme  snRNA transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  dephosphorylation of RNA polymerase II C-terminal domain  
Ontology : EGO-EBIRNA polymerase II core binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  positive regulation of cell proliferation  regulation of cell cycle process  DNA-directed RNA polymerase II, holoenzyme  snRNA transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  dephosphorylation of RNA polymerase II C-terminal domain  
NDEx NetworkRPRD1B
Atlas of Cancer Signalling NetworkRPRD1B
Wikipedia pathwaysRPRD1B
Orthology - Evolution
OrthoDB58490
GeneTree (enSembl)ENSG00000101413
Phylogenetic Trees/Animal Genes : TreeFamRPRD1B
HOVERGENQ9NQG5
HOGENOMQ9NQG5
Homologs : HomoloGeneRPRD1B
Homology/Alignments : Family Browser (UCSC)RPRD1B
Gene fusions - Rearrangements
Fusion : MitelmanACTR5/RPRD1B [20q11.23/20q11.23]  [t(20;20)(q11;q11)]  
Fusion : MitelmanANKRD17/RPRD1B [4q13.3/20q11.23]  [t(4;20)(q13;q11)]  
Fusion : MitelmanRALGAPB/RPRD1B [20q11.23/20q11.23]  [t(20;20)(q11;q11)]  
Fusion : MitelmanRPRD1B/ANKRD17 [20q11.23/4q13.3]  [t(4;20)(q13;q11)]  
Fusion : MitelmanRPRD1B/CTNNBL1 [20q11.23/20q11.23]  [t(20;20)(q11;q11)]  
Fusion: TCGAACTR5 20q11.23 RPRD1B 20q11.23 LUAD
Fusion: TCGAANKRD17 4q13.3 RPRD1B 20q11.23 BRCA
Fusion: TCGARALGAPB 20q11.23 RPRD1B 20q11.23 BRCA
Fusion: TCGARPRD1B 20q11.23 ANKRD17 4q13.3 BRCA
Fusion: TCGARPRD1B 20q11.23 CTNNBL1 20q11.23 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPRD1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPRD1B
dbVarRPRD1B
ClinVarRPRD1B
1000_GenomesRPRD1B 
Exome Variant ServerRPRD1B
ExAC (Exome Aggregation Consortium)RPRD1B (select the gene name)
Genetic variants : HAPMAP58490
Genomic Variants (DGV)RPRD1B [DGVbeta]
DECIPHER (Syndromes)20:36661948-36720766  ENSG00000101413
CONAN: Copy Number AnalysisRPRD1B 
Mutations
ICGC Data PortalRPRD1B 
TCGA Data PortalRPRD1B 
Broad Tumor PortalRPRD1B
OASIS PortalRPRD1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPRD1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPRD1B
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 RPRD1B
DgiDB (Drug Gene Interaction Database)RPRD1B
DoCM (Curated mutations)RPRD1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPRD1B (select a term)
intoGenRPRD1B
Cancer3DRPRD1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614694   
Orphanet
MedgenRPRD1B
Genetic Testing Registry RPRD1B
NextProtQ9NQG5 [Medical]
TSGene58490
GENETestsRPRD1B
Huge Navigator RPRD1B [HugePedia]
snp3D : Map Gene to Disease58490
BioCentury BCIQRPRD1B
ClinGenRPRD1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD58490
Chemical/Pharm GKB GenePA162402043
Clinical trialRPRD1B
Miscellaneous
canSAR (ICR)RPRD1B (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPRD1B
EVEXRPRD1B
GoPubMedRPRD1B
iHOPRPRD1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:25:40 CET 2017

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