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PRPF6 (pre-mRNA processing factor 6)

Identity

Alias_namesC20orf14
chromosome 20 open reading frame 14
PRP6 pre-mRNA processing factor 6 homolog (yeast)
PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
Alias_symbol (synonym)TOM
bB152O15.1
ANT-1
U5-102K
Prp6
hPrp6
SNRNP102
RP60
Other aliasANT1
HGNC (Hugo) PRPF6
LocusID (NCBI) 24148
Atlas_Id 50576
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63981078 and ends at 64033100 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)
BCAP31 (Xq28) / PRPF6 (20q13.33)EDC4 (16q22.1) / PRPF6 (20q13.33)FAM217B (20q13.33) / PRPF6 (20q13.33)
GON4L (1q22) / PRPF6 (20q13.33)OPRL1 (20q13.33) / PRPF6 (20q13.33)PCMTD2 (20q13.33) / PRPF6 (20q13.33)
PLEC (8q24.3) / PRPF6 (20q13.33)PRPF6 (20q13.33) / DNAJC5 (20q13.33)PRPF6 (20q13.33) / PRPF6 (20q13.33)
SSR3 (3q25.31) / PRPF6 (20q13.33)ST7L (1p13.2) / PRPF6 (20q13.33)C20orf177 PRPF6 20q13.33
OPRL1 20q13.33 / PRPF6 20q13.33PRPF6 20q13.33 / DNAJC5 20q13.33ST7L 1p13.2 / PRPF6 20q13.33

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)PRPF6   15860
Cards
Entrez_Gene (NCBI)PRPF6  24148  pre-mRNA processing factor 6
AliasesANT-1; ANT1; C20orf14; Prp6; 
RP60; SNRNP102; TOM; U5-102K; hPrp6
GeneCards (Weizmann)PRPF6
Ensembl hg19 (Hinxton)ENSG00000101161 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101161 [Gene_View]  chr20:63981078-64033100 [Contig_View]  PRPF6 [Vega]
ICGC DataPortalENSG00000101161
TCGA cBioPortalPRPF6
AceView (NCBI)PRPF6
Genatlas (Paris)PRPF6
WikiGenes24148
SOURCE (Princeton)PRPF6
Genetics Home Reference (NIH)PRPF6
Genomic and cartography
GoldenPath hg38 (UCSC)PRPF6  -     chr20:63981078-64033100 +  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPF6  -     20q13.33   [Description]    (hg19-Feb_2009)
EnsemblPRPF6 - 20q13.33 [CytoView hg19]  PRPF6 - 20q13.33 [CytoView hg38]
Mapping of homologs : NCBIPRPF6 [Mapview hg19]  PRPF6 [Mapview hg38]
OMIM613979   613983   
Gene and transcription
Genbank (Entrez)AB019219 AF026031 AF221842 AK001554 AK225993
RefSeq transcript (Entrez)NM_012469
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPF6
Cluster EST : UnigeneHs.31334 [ NCBI ]
CGAP (NCI)Hs.31334
Alternative Splicing GalleryENSG00000101161
Gene ExpressionPRPF6 [ NCBI-GEO ]   PRPF6 [ EBI - ARRAY_EXPRESS ]   PRPF6 [ SEEK ]   PRPF6 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)24148
GTEX Portal (Tissue expression)PRPF6
Human Protein AtlasENSG00000101161-PRPF6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94906   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94906  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94906
Splice isoforms : SwissVarO94906
PhosPhoSitePlusO94906
Domains : Interpro (EBI)HAT    PRP1_N    Prp6/Prp1/STA1    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)PRP1_N (PF06424)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam06424    pfam13181   
Domain families : Smart (EMBL)HAT (SM00386)  TPR (SM00028)  
Conserved Domain (NCBI)PRPF6
DMDM Disease mutations24148
Blocks (Seattle)PRPF6
PDB (SRS)3JCR   
PDB (PDBSum)3JCR   
PDB (IMB)3JCR   
PDB (RSDB)3JCR   
Structural Biology KnowledgeBase3JCR   
SCOP (Structural Classification of Proteins)3JCR   
CATH (Classification of proteins structures)3JCR   
SuperfamilyO94906
Human Protein Atlas [tissue]ENSG00000101161-PRPF6 [tissue]
Peptide AtlasO94906
HPRD10729
IPIIPI00305068   IPI01012099   
Protein Interaction databases
DIP (DOE-UCLA)O94906
IntAct (EBI)O94906
FunCoupENSG00000101161
BioGRIDPRPF6
STRING (EMBL)PRPF6
ZODIACPRPF6
Ontologies - Pathways
QuickGOO94906
Ontology : AmiGOspliceosomal tri-snRNP complex assembly  spliceosomal tri-snRNP complex assembly  spliceosomal complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  spliceosomal complex  U5 snRNP  RNA localization  RNA splicing  membrane  nuclear speck  ribonucleoprotein complex binding  positive regulation of transcription from RNA polymerase II promoter  U4/U6 x U5 tri-snRNP complex  androgen receptor binding  catalytic step 2 spliceosome  
Ontology : EGO-EBIspliceosomal tri-snRNP complex assembly  spliceosomal tri-snRNP complex assembly  spliceosomal complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  spliceosomal complex  U5 snRNP  RNA localization  RNA splicing  membrane  nuclear speck&nrsp;&fb3p;ribonucleoprotein complex binding  positive regulation of transcription from RNA polymerase II promoter  U4/U6 x U5 tri-snRNP complex  androgen receptor binding  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkPRPF6
Atlas of Cancer Signalling NetworkPRPF6
Wikipedia pathwaysPRPF6
Orthology - Evolution
OrthoDB24148
GeneTree (enSembl)ENSG00000101161
Phylogenetic Trees/Animal Genes : TreeFamPRPF6
HOVERGENO94906
HOGENOMO94906
Homologs : HomoloGenePRPF6
Homology/Alignments : Family Browser (UCSC)PRPF6
Gene fusions - Rearrangements
Fusion : MitelmanFAM217B/PRPF6 [20q13.33/20q13.33]  [t(20;20)(q13;q13)]  
Fusion : MitelmanOPRL1/PRPF6 [20q13.33/20q13.33]  [t(20;20)(q13;q13)]  
Fusion : MitelmanPRPF6/DNAJC5 [20q13.33/20q13.33]  [t(20;20)(q13;q13)]  
Fusion : MitelmanST7L/PRPF6 [1p13.2/20q13.33]  [t(1;20)(p13;q13)]  
Fusion: TCGA_MDACCC20orf177 PRPF6 20q13.33 BRCA
Fusion: TCGA_MDACCOPRL1 20q13.33 PRPF6 20q13.33 BRCA
Fusion: TCGA_MDACCPRPF6 20q13.33 DNAJC5 20q13.33 LUAD
Fusion: TCGA_MDACCST7L 1p13.2 PRPF6 20q13.33 BRCA
Tumor Fusion PortalPRPF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPF6
dbVarPRPF6
ClinVarPRPF6
1000_GenomesPRPF6 
Exome Variant ServerPRPF6
ExAC (Exome Aggregation Consortium)ENSG00000101161
GNOMAD BrowserENSG00000101161
Genetic variants : HAPMAP24148
Genomic Variants (DGV)PRPF6 [DGVbeta]
DECIPHERPRPF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPF6 
Mutations
ICGC Data PortalPRPF6 
TCGA Data PortalPRPF6 
Broad Tumor PortalPRPF6
OASIS PortalPRPF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPF6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPF6
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 PRPF6
DgiDB (Drug Gene Interaction Database)PRPF6
DoCM (Curated mutations)PRPF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPF6 (select a term)
intoGenPRPF6
Cancer3DPRPF6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613979    613983   
Orphanet659   
DisGeNETPRPF6
MedgenPRPF6
Genetic Testing Registry PRPF6
NextProtO94906 [Medical]
TSGene24148
GENETestsPRPF6
Target ValidationPRPF6
Huge Navigator PRPF6 [HugePedia]
snp3D : Map Gene to Disease24148
BioCentury BCIQPRPF6
ClinGenPRPF6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD24148
Chemical/Pharm GKB GenePA25682
Clinical trialPRPF6
Miscellaneous
canSAR (ICR)PRPF6 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPF6
EVEXPRPF6
GoPubMedPRPF6
iHOPPRPF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:30:30 CET 2017

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