Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PAAF1 (proteasomal ATPase associated factor 1)

Identity

Alias_namesWDR71
WD repeat domain 71
Alias_symbol (synonym)FLJ11848
Rpn14
Other aliasPAAF
HGNC (Hugo) PAAF1
LocusID (NCBI) 80227
Atlas_Id 52700
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73876969 and ends at 73927736 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)
PAAF1 (11q13.4) / PAAF1 (11q13.4)RNFT1 (17q23.1) / PAAF1 (11q13.4)RPS6KB2 (11q13.2) / PAAF1 (11q13.4)
RNFT1 17q23.1 / PAAF1 11q13.4RPS6KB2 11q13.2 / PAAF1 11q13.4

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  RPS6KB2/PAAF1 (11q13)
t(11;17)(q13;q23) RNFT1/PAAF1

External links

Nomenclature
HGNC (Hugo)PAAF1   25687
Cards
Entrez_Gene (NCBI)PAAF1  80227  proteasomal ATPase associated factor 1
AliasesPAAF; Rpn14; WDR71
GeneCards (Weizmann)PAAF1
Ensembl hg19 (Hinxton)ENSG00000175575 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175575 [Gene_View]  ENSG00000175575 [Sequence]  chr11:73876969-73927736 [Contig_View]  PAAF1 [Vega]
ICGC DataPortalENSG00000175575
TCGA cBioPortalPAAF1
AceView (NCBI)PAAF1
Genatlas (Paris)PAAF1
WikiGenes80227
SOURCE (Princeton)PAAF1
Genetics Home Reference (NIH)PAAF1
Genomic and cartography
GoldenPath hg38 (UCSC)PAAF1  -     chr11:73876969-73927736 +  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAAF1  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathPAAF1 - 11q13.4 [CytoView hg19]  PAAF1 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000175575
Mapping of homologs : NCBIPAAF1 [Mapview hg19]  PAAF1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF087895 AK021910 AK222501 AK225520 AK298258
RefSeq transcript (Entrez)NM_001267803 NM_001267804 NM_001267805 NM_001267806 NM_001363556 NM_025155
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAAF1
Cluster EST : UnigeneHs.525017 [ NCBI ]
CGAP (NCI)Hs.525017
Alternative Splicing GalleryENSG00000175575
Gene ExpressionPAAF1 [ NCBI-GEO ]   PAAF1 [ EBI - ARRAY_EXPRESS ]   PAAF1 [ SEEK ]   PAAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)PAAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80227
GTEX Portal (Tissue expression)PAAF1
Human Protein AtlasENSG00000175575-PAAF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BRP4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BRP4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BRP4
Splice isoforms : SwissVarQ9BRP4
PhosPhoSitePlusQ9BRP4
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)PAAF1
DMDM Disease mutations80227
Blocks (Seattle)PAAF1
SuperfamilyQ9BRP4
Human Protein Atlas [tissue]ENSG00000175575-PAAF1 [tissue]
Peptide AtlasQ9BRP4
HPRD07761
IPIIPI00743862   IPI00867542   IPI01009790   IPI01010251   IPI01009329   IPI01015101   IPI01013526   IPI01015588   IPI01014007   IPI01013071   
Protein Interaction databases
DIP (DOE-UCLA)Q9BRP4
IntAct (EBI)Q9BRP4
FunCoupENSG00000175575
BioGRIDPAAF1
STRING (EMBL)PAAF1
ZODIACPAAF1
Ontologies - Pathways
QuickGOQ9BRP4
Ontology : AmiGOproteasome complex  protein binding  viral process  
Ontology : EGO-EBIproteasome complex  protein binding  viral process  
NDEx NetworkPAAF1
Atlas of Cancer Signalling NetworkPAAF1
Wikipedia pathwaysPAAF1
Orthology - Evolution
OrthoDB80227
GeneTree (enSembl)ENSG00000175575
Phylogenetic Trees/Animal Genes : TreeFamPAAF1
HOGENOMQ9BRP4
Homologs : HomoloGenePAAF1
Homology/Alignments : Family Browser (UCSC)PAAF1
Gene fusions - Rearrangements
Fusion : MitelmanRNFT1/PAAF1 [17q23.1/11q13.4]  [t(11;17)(q13;q23)]  
Fusion : MitelmanRPS6KB2/PAAF1 [11q13.2/11q13.4]  [t(11;11)(q13;q13)]  
Fusion PortalRNFT1 17q23.1 PAAF1 11q13.4 BRCA
Fusion PortalRPS6KB2 11q13.2 PAAF1 11q13.4 BRCA
Fusion : QuiverPAAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAAF1
dbVarPAAF1
ClinVarPAAF1
1000_GenomesPAAF1 
Exome Variant ServerPAAF1
ExAC (Exome Aggregation Consortium)ENSG00000175575
GNOMAD BrowserENSG00000175575
Varsome BrowserPAAF1
Genetic variants : HAPMAP80227
Genomic Variants (DGV)PAAF1 [DGVbeta]
DECIPHERPAAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAAF1 
Mutations
ICGC Data PortalPAAF1 
TCGA Data PortalPAAF1 
Broad Tumor PortalPAAF1
OASIS PortalPAAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAAF1
Mutations and Diseases : HGMDPAAF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAAF1
DgiDB (Drug Gene Interaction Database)PAAF1
DoCM (Curated mutations)PAAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAAF1 (select a term)
intoGenPAAF1
Cancer3DPAAF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPAAF1
MedgenPAAF1
Genetic Testing Registry PAAF1
NextProtQ9BRP4 [Medical]
TSGene80227
GENETestsPAAF1
Target ValidationPAAF1
Huge Navigator PAAF1 [HugePedia]
snp3D : Map Gene to Disease80227
BioCentury BCIQPAAF1
ClinGenPAAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80227
Chemical/Pharm GKB GenePA162398551
Clinical trialPAAF1
Miscellaneous
canSAR (ICR)PAAF1 (select the gene name)
DataMed IndexPAAF1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAAF1
EVEXPAAF1
GoPubMedPAAF1
iHOPPAAF1
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 : Wed Nov 13 17:59:32 CET 2019
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