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NUP42 (nucleoporin 42)

Identity

Other aliasCG1
NLP-1
NLP_1
NUPL2
hCG1
HGNC (Hugo) NUP42
LocusID (NCBI) 11097
Atlas_Id 47390
Location 7p15.3  [Link to chromosome band 7p15]
Location_base_pair Starts at 23182048 and ends at 23201006 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)
GPNMB 7p15.3 / NUPL2 7p15.3PACSIN2 22q13.2 / NUPL2 7p15.3
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



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  GPNMB/NUPL2 (7p15)
t(7;22)(p15;q13) PACSIN2/NUPL2


External links

Nomenclature
HGNC (Hugo)NUP42   17010
Cards
Entrez_Gene (NCBI)NUP42  11097  nucleoporin 42
AliasesCG1; NLP-1; NLP_1; NUPL2; 
hCG1
GeneCards (Weizmann)NUP42
Ensembl hg19 (Hinxton)ENSG00000136243 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136243 [Gene_View]  ENSG00000136243 [Sequence]  chr7:23182048-23201006 [Contig_View]  NUP42 [Vega]
ICGC DataPortalENSG00000136243
TCGA cBioPortalNUP42
AceView (NCBI)NUP42
Genatlas (Paris)NUP42
WikiGenes11097
SOURCE (Princeton)NUP42
Genetics Home Reference (NIH)NUP42
Genomic and cartography
GoldenPath hg38 (UCSC)NUP42  -     chr7:23182048-23201006 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP42  -     -   [Description]    (hg19-Feb_2009)
GoldenPathNUP42 - - [CytoView hg19]  NUP42 - - [CytoView hg38]
ImmunoBaseENSG00000136243
Mapping of homologs : NCBINUP42 [Mapview hg19]  NUP42 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI352214 AK124359 AK298183 AK300113 AK312991
RefSeq transcript (Entrez)NM_001370443 NM_001370444 NM_001370445 NM_001370446 NM_007342
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUP42
Alternative Splicing GalleryENSG00000136243
Gene ExpressionNUP42 [ NCBI-GEO ]   NUP42 [ EBI - ARRAY_EXPRESS ]   NUP42 [ SEEK ]   NUP42 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP42 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11097
GTEX Portal (Tissue expression)NUP42
Human Protein AtlasENSG00000136243-NUP42 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15504   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15504  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15504
Splice isoforms : SwissVarO15504
PhosPhoSitePlusO15504
Domaine pattern : Prosite (Expaxy)ZF_C3H1 (PS50103)   
Domains : Interpro (EBI)Znf_CCCH   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C3H1 (SM00356)  
Conserved Domain (NCBI)NUP42
DMDM Disease mutations11097
Blocks (Seattle)NUP42
PDB (RSDB)6B4F    6B4I    6B4J   
PDB Europe6B4F    6B4I    6B4J   
PDB (PDBSum)6B4F    6B4I    6B4J   
PDB (IMB)6B4F    6B4I    6B4J   
Structural Biology KnowledgeBase6B4F    6B4I    6B4J   
SCOP (Structural Classification of Proteins)6B4F    6B4I    6B4J   
CATH (Classification of proteins structures)6B4F    6B4I    6B4J   
SuperfamilyO15504
Human Protein Atlas [tissue]ENSG00000136243-NUP42 [tissue]
Peptide AtlasO15504
HPRD14855
Protein Interaction databases
DIP (DOE-UCLA)O15504
IntAct (EBI)O15504
FunCoupENSG00000136243
BioGRIDNUP42
STRING (EMBL)NUP42
ZODIACNUP42
Ontologies - Pathways
QuickGOO15504
Ontology : AmiGORNA binding  nuclear export signal receptor activity  nuclear export signal receptor activity  protein binding  nucleus  nucleus  nuclear envelope  nuclear envelope  nuclear pore  nucleoplasm  cytosol  cytosol  regulation of glycolytic process  mRNA export from nucleus  tRNA export from nucleus  protein export from nucleus  viral process  protein sumoylation  viral transcription  nuclear membrane  host cell  metal ion binding  regulation of gene silencing by miRNA  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBIRNA binding  nuclear export signal receptor activity  nuclear export signal receptor activity  protein binding  nucleus  nucleus  nuclear envelope  nuclear envelope  nuclear pore  nucleoplasm  cytosol  cytosol  regulation of glycolytic process  mRNA export from nucleus  tRNA export from nucleus  protein export from nucleus  viral process  protein sumoylation  viral transcription  nuclear membrane  host cell  metal ion binding  regulation of gene silencing by miRNA  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkNUP42
Atlas of Cancer Signalling NetworkNUP42
Wikipedia pathwaysNUP42
Orthology - Evolution
OrthoDB11097
GeneTree (enSembl)ENSG00000136243
Phylogenetic Trees/Animal Genes : TreeFamNUP42
HOGENOMO15504
Homologs : HomoloGeneNUP42
Homology/Alignments : Family Browser (UCSC)NUP42
Gene fusions - Rearrangements
Fusion : MitelmanGPNMB/NUPL2 [7p15.3/7p15.3]  [t(7;7)(p15;p15)]  
Fusion : MitelmanPACSIN2/NUPL2 [22q13.2/7p15.3]  [t(7;22)(p15;q13)]  
Fusion PortalGPNMB 7p15.3 NUPL2 7p15.3 BRCA
Fusion PortalPACSIN2 22q13.2 NUPL2 7p15.3 BRCA
Fusion : QuiverNUP42
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP42
dbVarNUP42
ClinVarNUP42
1000_GenomesNUP42 
Exome Variant ServerNUP42
ExAC (Exome Aggregation Consortium)ENSG00000136243
GNOMAD BrowserENSG00000136243
Varsome BrowserNUP42
Genetic variants : HAPMAP11097
Genomic Variants (DGV)NUP42 [DGVbeta]
DECIPHERNUP42 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUP42 
Mutations
ICGC Data PortalNUP42 
TCGA Data PortalNUP42 
Broad Tumor PortalNUP42
OASIS PortalNUP42 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDNUP42
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 NUP42
DgiDB (Drug Gene Interaction Database)NUP42
DoCM (Curated mutations)NUP42 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP42 (select a term)
intoGenNUP42
Cancer3DNUP42(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETNUP42
MedgenNUP42
Genetic Testing Registry NUP42
NextProtO15504 [Medical]
TSGene11097
GENETestsNUP42
Target ValidationNUP42
Huge Navigator NUP42 [HugePedia]
snp3D : Map Gene to Disease11097
BioCentury BCIQNUP42
ClinGenNUP42
Clinical trials, drugs, therapy
Protein Interactions : CTD11097
Pharm GKB GenePA134990469
Clinical trialNUP42
Miscellaneous
canSAR (ICR)NUP42 (select the gene name)
HarmonizomeNUP42
DataMed IndexNUP42
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP42
EVEXNUP42
GoPubMedNUP42
iHOPNUP42
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:25:43 CEST 2020

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