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PRPF3 (pre-mRNA processing factor 3)

Identity

Alias_namesRP18
retinitis pigmentosa 18 (autosomal dominant)
PRP3 pre-mRNA processing factor 3 homolog (yeast)
PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
Alias_symbol (synonym)Prp3
hPrp3
SNRNP90
Other aliasHPRP3
HPRP3P
PRP3
Prp3p
HGNC (Hugo) PRPF3
LocusID (NCBI) 9129
Atlas_Id 54554
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 150321468 and ends at 150353228 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)
LOC349408 () / PRPF3 (1q21.2)NCAPD2 (12p13.31) / PRPF3 (1q21.2)PRPF3 (1q21.2) / CTSS (1q21.3)
PRPF3 (1q21.2) / LOC349408 ()PRPF3 (1q21.2) / PRPF3 (1q21.2)SRGAP2 (1q32.1) / PRPF3 (1q21.2)
TBCCD1 (3q27.3) / PRPF3 (1q21.2)PRPF3 1q21.2 / CTSS 1q21.3

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)PRPF3   17348
Cards
Entrez_Gene (NCBI)PRPF3  9129  pre-mRNA processing factor 3
AliasesHPRP3; HPRP3P; PRP3; Prp3p; 
RP18; SNRNP90
GeneCards (Weizmann)PRPF3
Ensembl hg19 (Hinxton)ENSG00000117360 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117360 [Gene_View]  chr1:150321468-150353228 [Contig_View]  PRPF3 [Vega]
ICGC DataPortalENSG00000117360
TCGA cBioPortalPRPF3
AceView (NCBI)PRPF3
Genatlas (Paris)PRPF3
WikiGenes9129
SOURCE (Princeton)PRPF3
Genetics Home Reference (NIH)PRPF3
Genomic and cartography
GoldenPath hg38 (UCSC)PRPF3  -     chr1:150321468-150353228 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPF3  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblPRPF3 - 1q21.2 [CytoView hg19]  PRPF3 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIPRPF3 [Mapview hg19]  PRPF3 [Mapview hg38]
OMIM601414   607301   
Gene and transcription
Genbank (Entrez)AA806093 AF001947 AF016370 AK222825 AK297139
RefSeq transcript (Entrez)NM_001350529 NM_004698
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPF3
Cluster EST : UnigeneHs.11776 [ NCBI ]
CGAP (NCI)Hs.11776
Alternative Splicing GalleryENSG00000117360
Gene ExpressionPRPF3 [ NCBI-GEO ]   PRPF3 [ EBI - ARRAY_EXPRESS ]   PRPF3 [ SEEK ]   PRPF3 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPF3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9129
GTEX Portal (Tissue expression)PRPF3
Human Protein AtlasENSG00000117360-PRPF3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43395   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43395  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43395
Splice isoforms : SwissVarO43395
PhosPhoSitePlusO43395
Domaine pattern : Prosite (Expaxy)PWI (PS51025)   
Domains : Interpro (EBI)DUF1115    Pre-mRNA_splic_Prp3    Prp3    PWI_dom   
Domain families : Pfam (Sanger)DUF1115 (PF06544)    PRP3 (PF08572)    PWI (PF01480)   
Domain families : Pfam (NCBI)pfam06544    pfam08572    pfam01480   
Domain families : Smart (EMBL)PWI (SM00311)  
Conserved Domain (NCBI)PRPF3
DMDM Disease mutations9129
Blocks (Seattle)PRPF3
PDB (SRS)1X4Q    3JCR   
PDB (PDBSum)1X4Q    3JCR   
PDB (IMB)1X4Q    3JCR   
PDB (RSDB)1X4Q    3JCR   
Structural Biology KnowledgeBase1X4Q    3JCR   
SCOP (Structural Classification of Proteins)1X4Q    3JCR   
CATH (Classification of proteins structures)1X4Q    3JCR   
SuperfamilyO43395
Human Protein Atlas [tissue]ENSG00000117360-PRPF3 [tissue]
Peptide AtlasO43395
HPRD07389
IPIIPI00005861   IPI00909797   IPI01012317   
Protein Interaction databases
DIP (DOE-UCLA)O43395
IntAct (EBI)O43395
FunCoupENSG00000117360
BioGRIDPRPF3
STRING (EMBL)PRPF3
ZODIACPRPF3
Ontologies - Pathways
QuickGOO43395
Ontology : AmiGOspliceosomal tri-snRNP complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  cytosol  mRNA processing  RNA splicing  Cajal body  nuclear speck  identical protein binding  protein complex  U4/U6 x U5 tri-snRNP complex  
Ontology : EGO-EBIspliceosomal tri-snRNP complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  cytosol  mRNA processing  RNA splicing  Cajal body  nuclear speck  identical protein binding  protein complex  U4/U6 x U5 tri-snRNP complex  
Pathways : KEGGSpliceosome   
NDEx NetworkPRPF3
Atlas of Cancer Signalling NetworkPRPF3
Wikipedia pathwaysPRPF3
Orthology - Evolution
OrthoDB9129
GeneTree (enSembl)ENSG00000117360
Phylogenetic Trees/Animal Genes : TreeFamPRPF3
HOVERGENO43395
HOGENOMO43395
Homologs : HomoloGenePRPF3
Homology/Alignments : Family Browser (UCSC)PRPF3
Gene fusions - Rearrangements
Fusion : MitelmanNCAPD2/PRPF3 [12p13.31/1q21.2]  [t(1;12)(q21;p13)]  
Fusion : MitelmanPRPF3/CTSS [1q21.2/1q21.3]  [t(1;1)(q21;q21)]  
Fusion : MitelmanSRGAP2/PRPF3 [1q32.1/1q21.2]  [t(1;1)(q21;q32)]  
Fusion: TCGA_MDACCPRPF3 1q21.2 CTSS 1q21.3 LUAD
Tumor Fusion PortalPRPF3
Fusion Cancer (Beijing)PRPF3 [1q21.2]  -  LOC349408 [FUSC000606]  [FUSC000606]  [FUSC000606]  [FUSC000606]  [FUSC000606]  [FUSC000606]  [FUSC000606]  [FUSC000606]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPF3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPF3
dbVarPRPF3
ClinVarPRPF3
1000_GenomesPRPF3 
Exome Variant ServerPRPF3
ExAC (Exome Aggregation Consortium)ENSG00000117360
GNOMAD BrowserENSG00000117360
Genetic variants : HAPMAP9129
Genomic Variants (DGV)PRPF3 [DGVbeta]
DECIPHERPRPF3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPF3 
Mutations
ICGC Data PortalPRPF3 
TCGA Data PortalPRPF3 
Broad Tumor PortalPRPF3
OASIS PortalPRPF3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPF3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPF3
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch PRPF3
DgiDB (Drug Gene Interaction Database)PRPF3
DoCM (Curated mutations)PRPF3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPF3 (select a term)
intoGenPRPF3
Cancer3DPRPF3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601414    607301   
Orphanet659   
DisGeNETPRPF3
MedgenPRPF3
Genetic Testing Registry PRPF3
NextProtO43395 [Medical]
TSGene9129
GENETestsPRPF3
Target ValidationPRPF3
Huge Navigator PRPF3 [HugePedia]
snp3D : Map Gene to Disease9129
BioCentury BCIQPRPF3
ClinGenPRPF3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9129
Chemical/Pharm GKB GenePA134892509
Clinical trialPRPF3
Miscellaneous
canSAR (ICR)PRPF3 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPF3
EVEXPRPF3
GoPubMedPRPF3
iHOPPRPF3
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 Nov 21 14:30:29 CET 2017

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