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NUP50 (nucleoporin 50)

Identity

Alias_namesNPAP60L
nucleoporin 50kDa
Other aliasNPAP60
HGNC (Hugo) NUP50
LocusID (NCBI) 10762
Atlas_Id 71045
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 45163845 and ends at 45188009 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)
NUP50 (22q13.31) / RBFOX2 (22q12.3)

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)NUP50   8065
Cards
Entrez_Gene (NCBI)NUP50  10762  nucleoporin 50
AliasesNPAP60; NPAP60L
GeneCards (Weizmann)NUP50
Ensembl hg19 (Hinxton)ENSG00000093000 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000093000 [Gene_View]  chr22:45163845-45188009 [Contig_View]  NUP50 [Vega]
ICGC DataPortalENSG00000093000
TCGA cBioPortalNUP50
AceView (NCBI)NUP50
Genatlas (Paris)NUP50
WikiGenes10762
SOURCE (Princeton)NUP50
Genetics Home Reference (NIH)NUP50
Genomic and cartography
GoldenPath hg38 (UCSC)NUP50  -     chr22:45163845-45188009 +  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP50  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblNUP50 - 22q13.31 [CytoView hg19]  NUP50 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBINUP50 [Mapview hg19]  NUP50 [Mapview hg38]
OMIM604646   
Gene and transcription
Genbank (Entrez)AF107840 AF116624 AF267865 AK095860 AK304223
RefSeq transcript (Entrez)NM_007172 NM_153645
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUP50
Cluster EST : UnigeneHs.475103 [ NCBI ]
CGAP (NCI)Hs.475103
Alternative Splicing GalleryENSG00000093000
Gene ExpressionNUP50 [ NCBI-GEO ]   NUP50 [ EBI - ARRAY_EXPRESS ]   NUP50 [ SEEK ]   NUP50 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10762
GTEX Portal (Tissue expression)NUP50
Human Protein AtlasENSG00000093000-NUP50 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKX7
Splice isoforms : SwissVarQ9UKX7
PhosPhoSitePlusQ9UKX7
Domaine pattern : Prosite (Expaxy)RANBD1 (PS50196)   
Domains : Interpro (EBI)NUP2/50/61    PH_dom-like    Ran_bind_dom   
Domain families : Pfam (Sanger)NUP50 (PF08911)    Ran_BP1 (PF00638)   
Domain families : Pfam (NCBI)pfam08911    pfam00638   
Domain families : Smart (EMBL)RanBD (SM00160)  
Conserved Domain (NCBI)NUP50
DMDM Disease mutations10762
Blocks (Seattle)NUP50
PDB (SRS)2EC1    3TJ3   
PDB (PDBSum)2EC1    3TJ3   
PDB (IMB)2EC1    3TJ3   
PDB (RSDB)2EC1    3TJ3   
Structural Biology KnowledgeBase2EC1    3TJ3   
SCOP (Structural Classification of Proteins)2EC1    3TJ3   
CATH (Classification of proteins structures)2EC1    3TJ3   
SuperfamilyQ9UKX7
Human Protein Atlas [tissue]ENSG00000093000-NUP50 [tissue]
Peptide AtlasQ9UKX7
HPRD05226
IPIIPI00026940   IPI00170581   IPI01010588   IPI00889717   IPI00022857   IPI00815932   IPI01017941   IPI00893963   IPI00893191   IPI00893332   IPI00892944   IPI00893101   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKX7
IntAct (EBI)Q9UKX7
FunCoupENSG00000093000
BioGRIDNUP50
STRING (EMBL)NUP50
ZODIACNUP50
Ontologies - Pathways
QuickGOQ9UKX7
Ontology : AmiGOprotein binding  nuclear pore  nucleoplasm  nucleoplasm  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  mitotic nuclear envelope disassembly  Ran GTPase binding  regulation of glucose transport  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear membrane  intracellular membrane-bounded organelle  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBIprotein binding  nuclear pore  nucleoplasm  nucleoplasm  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  mitotic nuclear envelope disassembly  Ran GTPase binding  regulation of glucose transport  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear membrane  intracellular membrane-bounded organelle  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkNUP50
Atlas of Cancer Signalling NetworkNUP50
Wikipedia pathwaysNUP50
Orthology - Evolution
OrthoDB10762
GeneTree (enSembl)ENSG00000093000
Phylogenetic Trees/Animal Genes : TreeFamNUP50
HOVERGENQ9UKX7
HOGENOMQ9UKX7
Homologs : HomoloGeneNUP50
Homology/Alignments : Family Browser (UCSC)NUP50
Gene fusions - Rearrangements
Tumor Fusion PortalNUP50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP50
dbVarNUP50
ClinVarNUP50
1000_GenomesNUP50 
Exome Variant ServerNUP50
ExAC (Exome Aggregation Consortium)ENSG00000093000
GNOMAD BrowserENSG00000093000
Genetic variants : HAPMAP10762
Genomic Variants (DGV)NUP50 [DGVbeta]
DECIPHERNUP50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUP50 
Mutations
ICGC Data PortalNUP50 
TCGA Data PortalNUP50 
Broad Tumor PortalNUP50
OASIS PortalNUP50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUP50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUP50
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 NUP50
DgiDB (Drug Gene Interaction Database)NUP50
DoCM (Curated mutations)NUP50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP50 (select a term)
intoGenNUP50
Cancer3DNUP50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604646   
Orphanet
DisGeNETNUP50
MedgenNUP50
Genetic Testing Registry NUP50
NextProtQ9UKX7 [Medical]
TSGene10762
GENETestsNUP50
Target ValidationNUP50
Huge Navigator NUP50 [HugePedia]
snp3D : Map Gene to Disease10762
BioCentury BCIQNUP50
ClinGenNUP50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10762
Chemical/Pharm GKB GenePA31852
Clinical trialNUP50
Miscellaneous
canSAR (ICR)NUP50 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP50
EVEXNUP50
GoPubMedNUP50
iHOPNUP50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:03:58 CET 2017

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