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PUF60 (poly(U) binding splicing factor 60)

Identity

Alias_namespoly(U) binding splicing factor 60KDa
Alias_symbol (synonym)FIR
SIAHBP1
RoBPI
Other aliasVRJS
HGNC (Hugo) PUF60
LocusID (NCBI) 22827
Atlas_Id 52933
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 143816344 and ends at 143829109 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)
PUF60 (8q24.3) / KIFC3 (16q21)PUF60 (8q24.3) / PUF60 (8q24.3)PUF60 (8q24.3) / SURF2 (9q34.2)

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)PUF60   17042
Cards
Entrez_Gene (NCBI)PUF60  22827  poly(U) binding splicing factor 60
AliasesFIR; RoBPI; SIAHBP1; VRJS
GeneCards (Weizmann)PUF60
Ensembl hg19 (Hinxton)ENSG00000179950 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179950 [Gene_View]  chr8:143816344-143829109 [Contig_View]  PUF60 [Vega]
ICGC DataPortalENSG00000179950
TCGA cBioPortalPUF60
AceView (NCBI)PUF60
Genatlas (Paris)PUF60
WikiGenes22827
SOURCE (Princeton)PUF60
Genetics Home Reference (NIH)PUF60
Genomic and cartography
GoldenPath hg38 (UCSC)PUF60  -     chr8:143816344-143829109 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PUF60  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblPUF60 - 8q24.3 [CytoView hg19]  PUF60 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIPUF60 [Mapview hg19]  PUF60 [Mapview hg38]
OMIM604819   615583   
Gene and transcription
Genbank (Entrez)AF114818 AF190744 AF217197 AK055941 AK292373
RefSeq transcript (Entrez)NM_001136033 NM_001271096 NM_001271097 NM_001271098 NM_001271099 NM_001271100 NM_014281 NM_078480
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_033879 NT_187571
Consensus coding sequences : CCDS (NCBI)PUF60
Cluster EST : UnigeneHs.521924 [ NCBI ]
CGAP (NCI)Hs.521924
Alternative Splicing GalleryENSG00000179950
Gene ExpressionPUF60 [ NCBI-GEO ]   PUF60 [ EBI - ARRAY_EXPRESS ]   PUF60 [ SEEK ]   PUF60 [ MEM ]
Gene Expression Viewer (FireBrowse)PUF60 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22827
GTEX Portal (Tissue expression)PUF60
Human Protein AtlasENSG00000179950-PUF60 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHX1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHX1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHX1
Splice isoforms : SwissVarQ9UHX1
PhosPhoSitePlusQ9UHX1
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    PolyU-bd    PUF60_RRM1    PUF60_RRM2    PUF60_RRM3    RRM_dom    RRM_dom_euk   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  RRM_1 (SM00361)  
Conserved Domain (NCBI)PUF60
DMDM Disease mutations22827
Blocks (Seattle)PUF60
PDB (SRS)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
PDB (PDBSum)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
PDB (IMB)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
PDB (RSDB)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
Structural Biology KnowledgeBase2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
SCOP (Structural Classification of Proteins)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
CATH (Classification of proteins structures)2DNY    2KXF    2KXH    2QFJ    3DXB    3UE2    3US5    3UWT   
SuperfamilyQ9UHX1
Human Protein Atlas [tissue]ENSG00000179950-PUF60 [tissue]
Peptide AtlasQ9UHX1
HPRD18051
IPIIPI00069750   IPI00100716   IPI00797595   IPI00788826   IPI00856076   IPI00855912   IPI00984498   IPI00985156   IPI00977375   IPI00983055   IPI00976817   IPI00984548   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHX1
IntAct (EBI)Q9UHX1
FunCoupENSG00000179950
BioGRIDPUF60
STRING (EMBL)PUF60
ZODIACPUF60
Ontologies - Pathways
QuickGOQ9UHX1
Ontology : AmiGOmRNA splicing, via spliceosome  DNA binding  RNA binding  protein binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  cyclin-dependent protein kinase activating kinase holoenzyme complex  cell junction  intracellular ribonucleoprotein complex  identical protein binding  cadherin binding  
Ontology : EGO-EBImRNA splicing, via spliceosome  DNA binding  RNA binding  protein binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  cyclin-dependent protein kinase activating kinase holoenzyme complex  cell junction  intracellular ribonucleoprotein complex  identical protein binding  cadherin binding  
Pathways : KEGGSpliceosome   
NDEx NetworkPUF60
Atlas of Cancer Signalling NetworkPUF60
Wikipedia pathwaysPUF60
Orthology - Evolution
OrthoDB22827
GeneTree (enSembl)ENSG00000179950
Phylogenetic Trees/Animal Genes : TreeFamPUF60
HOVERGENQ9UHX1
HOGENOMQ9UHX1
Homologs : HomoloGenePUF60
Homology/Alignments : Family Browser (UCSC)PUF60
Gene fusions - Rearrangements
Tumor Fusion PortalPUF60
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPUF60 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PUF60
dbVarPUF60
ClinVarPUF60
1000_GenomesPUF60 
Exome Variant ServerPUF60
ExAC (Exome Aggregation Consortium)ENSG00000179950
GNOMAD BrowserENSG00000179950
Genetic variants : HAPMAP22827
Genomic Variants (DGV)PUF60 [DGVbeta]
DECIPHERPUF60 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPUF60 
Mutations
ICGC Data PortalPUF60 
TCGA Data PortalPUF60 
Broad Tumor PortalPUF60
OASIS PortalPUF60 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPUF60  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPUF60
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 PUF60
DgiDB (Drug Gene Interaction Database)PUF60
DoCM (Curated mutations)PUF60 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PUF60 (select a term)
intoGenPUF60
Cancer3DPUF60(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604819    615583   
Orphanet
DisGeNETPUF60
MedgenPUF60
Genetic Testing Registry PUF60
NextProtQ9UHX1 [Medical]
TSGene22827
GENETestsPUF60
Target ValidationPUF60
Huge Navigator PUF60 [HugePedia]
snp3D : Map Gene to Disease22827
BioCentury BCIQPUF60
ClinGenPUF60
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22827
Chemical/Pharm GKB GenePA162400364
Clinical trialPUF60
Miscellaneous
canSAR (ICR)PUF60 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePUF60
EVEXPUF60
GoPubMedPUF60
iHOPPUF60
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 14:31:05 CET 2017

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