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PRPF8 (pre-mRNA processing factor 8)

Identity

Alias_namesRP13
PRP8 pre-mRNA processing factor 8 homolog (yeast)
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Alias_symbol (synonym)PRPC8
Prp8
hPrp8
SNRNP220
Other aliasHPRP8
PRP8
HGNC (Hugo) PRPF8
LocusID (NCBI) 10594
Atlas_Id 45748
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1553923 and ends at 1588176 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PITPNA (17p13.3) / PRPF8 (17p13.3)PRPF8 (17p13.3) / FAM174B (15q26.1)PRPF8 (17p13.3) / LDHA (11p15.1)
PRPF8 (17p13.3) / MCAT (22q13.2)PRPF8 (17p13.3) / PEX1 (7q21.2)PRPF8 (17p13.3) / PRPF8 (17p13.3)
PRPF8 (17p13.3) / RPL37A (2q35)PRPF8 (17p13.3) / RTF1 (15q15.1)RNASEK-C17orf49 (17p13.1) / PRPF8 (17p13.3)
S100A6 (1q21.3) / PRPF8 (17p13.3)SRRM2 (16p13.3) / PRPF8 (17p13.3)THBS1 (15q14) / PRPF8 (17p13.3)
PITPNA 17p13.3 / PRPF8 17p13.3

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)PRPF8   17340
Cards
Entrez_Gene (NCBI)PRPF8  10594  pre-mRNA processing factor 8
AliasesHPRP8; PRP8; PRPC8; RP13; 
SNRNP220
GeneCards (Weizmann)PRPF8
Ensembl hg19 (Hinxton)ENSG00000174231 [Gene_View]  chr17:1553923-1588176 [Contig_View]  PRPF8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174231 [Gene_View]  chr17:1553923-1588176 [Contig_View]  PRPF8 [Vega]
ICGC DataPortalENSG00000174231
TCGA cBioPortalPRPF8
AceView (NCBI)PRPF8
Genatlas (Paris)PRPF8
WikiGenes10594
SOURCE (Princeton)PRPF8
Genetics Home Reference (NIH)PRPF8
Genomic and cartography
GoldenPath hg19 (UCSC)PRPF8  -     chr17:1553923-1588176 -  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRPF8  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblPRPF8 - 17p13.3 [CytoView hg19]  PRPF8 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIPRPF8 [Mapview hg19]  PRPF8 [Mapview hg38]
OMIM600059   607300   
Gene and transcription
Genbank (Entrez)AB007510 AF092565 AK058034 AK126169 AK222905
RefSeq transcript (Entrez)NM_006445
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009118 NT_010718 NT_187611 NW_004929405
Consensus coding sequences : CCDS (NCBI)PRPF8
Cluster EST : UnigeneHs.181368 [ NCBI ]
CGAP (NCI)Hs.181368
Alternative Splicing GalleryENSG00000174231
Gene ExpressionPRPF8 [ NCBI-GEO ]   PRPF8 [ EBI - ARRAY_EXPRESS ]   PRPF8 [ SEEK ]   PRPF8 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPF8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10594
GTEX Portal (Tissue expression)PRPF8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P2Q9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P2Q9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P2Q9
Splice isoforms : SwissVarQ6P2Q9
PhosPhoSitePlusQ6P2Q9
Domains : Interpro (EBI)JAMM/MPN+_dom    PRO8NT    PROCN    PROCT    PRP8    PRP8_domainIV    Prp8_U5-snRNA-bd    Prp8_U6-snRNA-bd    RNaseH-like_dom    RRM_spliceosomal_PrP8   
Domain families : Pfam (Sanger)JAB (PF01398)    PRO8NT (PF08082)    PROCN (PF08083)    PROCT (PF08084)    PRP8_domainIV (PF12134)    RRM_4 (PF10598)    U5_2-snRNA_bdg (PF10597)    U6-snRNA_bdg (PF10596)   
Domain families : Pfam (NCBI)pfam01398    pfam08082    pfam08083    pfam08084    pfam12134    pfam10598    pfam10597    pfam10596   
Domain families : Smart (EMBL)JAB_MPN (SM00232)  
Domain structure : Prodom (Prabi Lyon)Pre-mRNA-splicing_factor-8 (PD149576)   
Conserved Domain (NCBI)PRPF8
DMDM Disease mutations10594
Blocks (Seattle)PRPF8
PDB (SRS)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
PDB (PDBSum)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
PDB (IMB)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
PDB (RSDB)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
Structural Biology KnowledgeBase3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
SCOP (Structural Classification of Proteins)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
CATH (Classification of proteins structures)3E9L    3ENB    3LRU    4JK7    4JK8    4JK9    4JKA    4JKB    4JKC    4JKD    4JKE    4JKF    4JKG    4JKH    4KIT   
SuperfamilyQ6P2Q9
Human Protein AtlasENSG00000174231
Peptide AtlasQ6P2Q9
HPRD06295
IPIIPI00007928   IPI01010344   
Protein Interaction databases
DIP (DOE-UCLA)Q6P2Q9
IntAct (EBI)Q6P2Q9
FunCoupENSG00000174231
BioGRIDPRPF8
STRING (EMBL)PRPF8
ZODIACPRPF8
Ontologies - Pathways
QuickGOQ6P2Q9
Ontology : AmiGOspliceosomal tri-snRNP complex assembly  RNA splicing, via transesterification reactions  second spliceosomal transesterification activity  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein binding  nucleus  nucleoplasm  U5 snRNP  mRNA processing  RNA splicing  membrane  nuclear speck  U6 snRNA binding  U1 snRNA binding  U2 snRNA binding  U5 snRNA binding  poly(A) RNA binding  K63-linked polyubiquitin binding  catalytic step 2 spliceosome  cellular response to lipopolysaccharide  cellular response to tumor necrosis factor  pre-mRNA intronic binding  
Ontology : EGO-EBIspliceosomal tri-snRNP complex assembly  RNA splicing, via transesterification reactions  second spliceosomal transesterification activity  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein binding  nucleus  nucleoplasm  U5 snRNP  mRNA processing  RNA splicing  membrane  nuclear speck  U6 snRNA binding  U1 snRNA binding  U2 snRNA binding  U5 snRNA binding  poly(A) RNA binding  K63-linked polyubiquitin binding  catalytic step 2 spliceosome  cellular response to lipopolysaccharide  cellular response to tumor necrosis factor  pre-mRNA intronic binding  
Pathways : KEGGSpliceosome   
NDEx NetworkPRPF8
Atlas of Cancer Signalling NetworkPRPF8
Wikipedia pathwaysPRPF8
Orthology - Evolution
OrthoDB10594
GeneTree (enSembl)ENSG00000174231
Phylogenetic Trees/Animal Genes : TreeFamPRPF8
HOVERGENQ6P2Q9
HOGENOMQ6P2Q9
Homologs : HomoloGenePRPF8
Homology/Alignments : Family Browser (UCSC)PRPF8
Gene fusions - Rearrangements
Fusion : MitelmanPITPNA/PRPF8 [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion: TCGAPITPNA 17p13.3 PRPF8 17p13.3 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPF8
dbVarPRPF8
ClinVarPRPF8
1000_GenomesPRPF8 
Exome Variant ServerPRPF8
ExAC (Exome Aggregation Consortium)PRPF8 (select the gene name)
Genetic variants : HAPMAP10594
Genomic Variants (DGV)PRPF8 [DGVbeta]
DECIPHER (Syndromes)17:1553923-1588176  ENSG00000174231
CONAN: Copy Number AnalysisPRPF8 
Mutations
ICGC Data PortalPRPF8 
TCGA Data PortalPRPF8 
Broad Tumor PortalPRPF8
OASIS PortalPRPF8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPF8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPF8
intOGen PortalPRPF8
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch PRPF8
DgiDB (Drug Gene Interaction Database)PRPF8
DoCM (Curated mutations)PRPF8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPF8 (select a term)
intoGenPRPF8
Cancer3DPRPF8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600059    607300   
Orphanet659   
MedgenPRPF8
Genetic Testing Registry PRPF8
NextProtQ6P2Q9 [Medical]
TSGene10594
GENETestsPRPF8
Huge Navigator PRPF8 [HugePedia]
snp3D : Map Gene to Disease10594
BioCentury BCIQPRPF8
ClinGenPRPF8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10594
Chemical/Pharm GKB GenePA33815
Clinical trialPRPF8
Miscellaneous
canSAR (ICR)PRPF8 (select the gene name)
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPF8
EVEXPRPF8
GoPubMedPRPF8
iHOPPRPF8
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 : Thu Mar 30 15:15:49 CEST 2017

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