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NUP43 (nucleoporin 43)

Identity

Alias_namesnucleoporin 43kDa
Alias_symbol (synonym)bA350J20.1
FLJ13287
Other aliasp42
HGNC (Hugo) NUP43
LocusID (NCBI) 348995
Atlas_Id 71044
Location 6q25.1  [Link to chromosome band 6q25]
Location_base_pair Starts at 149724316 and ends at 149746572 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)

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)NUP43   21182
Cards
Entrez_Gene (NCBI)NUP43  348995  nucleoporin 43
AliasesbA350J20.1; p42
GeneCards (Weizmann)NUP43
Ensembl hg19 (Hinxton)ENSG00000120253 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120253 [Gene_View]  chr6:149724316-149746572 [Contig_View]  NUP43 [Vega]
ICGC DataPortalENSG00000120253
TCGA cBioPortalNUP43
AceView (NCBI)NUP43
Genatlas (Paris)NUP43
WikiGenes348995
SOURCE (Princeton)NUP43
Genetics Home Reference (NIH)NUP43
Genomic and cartography
GoldenPath hg38 (UCSC)NUP43  -     chr6:149724316-149746572 -  6q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP43  -     6q25.1   [Description]    (hg19-Feb_2009)
EnsemblNUP43 - 6q25.1 [CytoView hg19]  NUP43 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBINUP43 [Mapview hg19]  NUP43 [Mapview hg38]
OMIM608141   
Gene and transcription
Genbank (Entrez)AF514997 AK023349 AK074311 AK095994 AK301027
RefSeq transcript (Entrez)NM_024647 NM_198887
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUP43
Cluster EST : UnigeneHs.510375 [ NCBI ]
CGAP (NCI)Hs.510375
Alternative Splicing GalleryENSG00000120253
Gene ExpressionNUP43 [ NCBI-GEO ]   NUP43 [ EBI - ARRAY_EXPRESS ]   NUP43 [ SEEK ]   NUP43 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)348995
GTEX Portal (Tissue expression)NUP43
Human Protein AtlasENSG00000120253-NUP43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFH3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFH3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFH3
Splice isoforms : SwissVarQ8NFH3
PhosPhoSitePlusQ8NFH3
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)NUP43
DMDM Disease mutations348995
Blocks (Seattle)NUP43
PDB (SRS)4I79    5A9Q   
PDB (PDBSum)4I79    5A9Q   
PDB (IMB)4I79    5A9Q   
PDB (RSDB)4I79    5A9Q   
Structural Biology KnowledgeBase4I79    5A9Q   
SCOP (Structural Classification of Proteins)4I79    5A9Q   
CATH (Classification of proteins structures)4I79    5A9Q   
SuperfamilyQ8NFH3
Human Protein Atlas [tissue]ENSG00000120253-NUP43 [tissue]
Peptide AtlasQ8NFH3
HPRD12174
IPIIPI00742943   IPI00477641   IPI00909617   IPI00909421   IPI01012494   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFH3
IntAct (EBI)Q8NFH3
FunCoupENSG00000120253
BioGRIDNUP43
STRING (EMBL)NUP43
ZODIACNUP43
Ontologies - Pathways
QuickGOQ8NFH3
Ontology : AmiGOkinetochore  condensed chromosome kinetochore  protein binding  nuclear envelope  cytosol  mRNA export from nucleus  tRNA export from nucleus  sister chromatid cohesion  mitotic nuclear envelope disassembly  regulation of glucose transport  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear pore outer ring  nuclear pore outer ring  cell division  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBIkinetochore  condensed chromosome kinetochore  protein binding  nuclear envelope  cytosol  mRNA export from nucleus  tRNA export from nucleus  sister chromatid cohesion  mitotic nuclear envelope disassembly  regulation of glucose transport  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear pore outer ring  nuclear pore outer ring  cell division  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkNUP43
Atlas of Cancer Signalling NetworkNUP43
Wikipedia pathwaysNUP43
Orthology - Evolution
OrthoDB348995
GeneTree (enSembl)ENSG00000120253
Phylogenetic Trees/Animal Genes : TreeFamNUP43
HOVERGENQ8NFH3
HOGENOMQ8NFH3
Homologs : HomoloGeneNUP43
Homology/Alignments : Family Browser (UCSC)NUP43
Gene fusions - Rearrangements
Fusion: Tumor Portal NUP43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP43
dbVarNUP43
ClinVarNUP43
1000_GenomesNUP43 
Exome Variant ServerNUP43
ExAC (Exome Aggregation Consortium)ENSG00000120253
GNOMAD BrowserENSG00000120253
Genetic variants : HAPMAP348995
Genomic Variants (DGV)NUP43 [DGVbeta]
DECIPHERNUP43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUP43 
Mutations
ICGC Data PortalNUP43 
TCGA Data PortalNUP43 
Broad Tumor PortalNUP43
OASIS PortalNUP43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUP43  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUP43
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 NUP43
DgiDB (Drug Gene Interaction Database)NUP43
DoCM (Curated mutations)NUP43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP43 (select a term)
intoGenNUP43
Cancer3DNUP43(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608141   
Orphanet
MedgenNUP43
Genetic Testing Registry NUP43
NextProtQ8NFH3 [Medical]
TSGene348995
GENETestsNUP43
Target ValidationNUP43
Huge Navigator NUP43 [HugePedia]
snp3D : Map Gene to Disease348995
BioCentury BCIQNUP43
ClinGenNUP43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD348995
Chemical/Pharm GKB GenePA134930788
Clinical trialNUP43
Miscellaneous
canSAR (ICR)NUP43 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP43
EVEXNUP43
GoPubMedNUP43
iHOPNUP43
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 : Thu Nov 9 12:19:37 CET 2017

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