Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NPAS3 (neuronal PAS domain protein 3)

Identity

Alias_symbol (synonym)MOP6
PASD6
bHLHe12
Other alias
HGNC (Hugo) NPAS3
LocusID (NCBI) 64067
Atlas_Id 54508
Location 14q13.1  [Link to chromosome band 14q13]
Location_base_pair Starts at 32939253 and ends at 33804176 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)
ARID4A (14q23.1) / NPAS3 (14q13.1)FAM114A1 (4p14) / NPAS3 (14q13.1)FOXG1 (14q12) / NPAS3 (14q13.1)
MIPOL1 (14q13.3) / NPAS3 (14q13.1)NPAS3 (14q13.1) / AKAP6 (14q12)NPAS3 (14q13.1) / NPAS3 (14q13.1)
NPAS3 (14q13.1) / OXA1L (14q11.2)RGS6 (14q24.2) / NPAS3 (14q13.1)RP11-468E2.1 () / NPAS3 (14q13.1)
SMO (7q32.1) / NPAS3 (14q13.1)ARID4A 14q23.1 / NPAS3 14q13.1MIPOL1 14q13.3 / NPAS3 14q13.1
NPAS3 14q13.1 / AKAP6 14q12RGS6 14q24.2 / NPAS3 14q13.1RP11-468E2.1 NPAS3 14q13.1

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) [ 7 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(14;14)(q11;q13) NPAS3/OXA1L
t(14;14)(q12;q13) NPAS3/AKAP6
t(14;14)(q12;q13) FOXG1/NPAS3
MIPOL1/NPAS3 (14q13)
t(14;14)(q13;q23) ARID4A/NPAS3
t(14;14)(q13;q24) RGS6/NPAS3

External links

Nomenclature
HGNC (Hugo)NPAS3   19311
Cards
Entrez_Gene (NCBI)NPAS3  64067  neuronal PAS domain protein 3
AliasesMOP6; PASD6; bHLHe12
GeneCards (Weizmann)NPAS3
Ensembl hg19 (Hinxton)ENSG00000151322 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151322 [Gene_View]  ENSG00000151322 [Sequence]  chr14:32939253-33804176 [Contig_View]  NPAS3 [Vega]
ICGC DataPortalENSG00000151322
TCGA cBioPortalNPAS3
AceView (NCBI)NPAS3
Genatlas (Paris)NPAS3
WikiGenes64067
SOURCE (Princeton)NPAS3
Genetics Home Reference (NIH)NPAS3
Genomic and cartography
GoldenPath hg38 (UCSC)NPAS3  -     chr14:32939253-33804176 +  14q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPAS3  -     14q13.1   [Description]    (hg19-Feb_2009)
GoldenPathNPAS3 - 14q13.1 [CytoView hg19]  NPAS3 - 14q13.1 [CytoView hg38]
ImmunoBaseENSG00000151322
Mapping of homologs : NCBINPAS3 [Mapview hg19]  NPAS3 [Mapview hg38]
OMIM609430   
Gene and transcription
Genbank (Entrez)AB054575 AB054576 AB055962 AF164438 AI811363
RefSeq transcript (Entrez)NM_001164749 NM_001165893 NM_022123 NM_173159
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPAS3
Cluster EST : UnigeneHs.675475 [ NCBI ]
CGAP (NCI)Hs.675475
Alternative Splicing GalleryENSG00000151322
Gene ExpressionNPAS3 [ NCBI-GEO ]   NPAS3 [ EBI - ARRAY_EXPRESS ]   NPAS3 [ SEEK ]   NPAS3 [ MEM ]
Gene Expression Viewer (FireBrowse)NPAS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64067
GTEX Portal (Tissue expression)NPAS3
Human Protein AtlasENSG00000151322-NPAS3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXF0
Splice isoforms : SwissVarQ8IXF0
PhosPhoSitePlusQ8IXF0
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    PAS    PAS-like_dom_sf    PAS_fold    PAS_fold_3   
Domain families : Pfam (Sanger)PAS (PF00989)    PAS_3 (PF08447)   
Domain families : Pfam (NCBI)pfam00989    pfam08447   
Domain families : Smart (EMBL)HLH (SM00353)  PAS (SM00091)  
Conserved Domain (NCBI)NPAS3
DMDM Disease mutations64067
Blocks (Seattle)NPAS3
SuperfamilyQ8IXF0
Human Protein Atlas [tissue]ENSG00000151322-NPAS3 [tissue]
Peptide AtlasQ8IXF0
HPRD11400
IPIIPI00217513   IPI00394963   IPI00394964   IPI00394965   IPI00394966   IPI00394967   IPI01021601   IPI01020861   IPI01021261   IPI01021732   IPI01021051   IPI01021176   
Protein Interaction databases
DIP (DOE-UCLA)Q8IXF0
IntAct (EBI)Q8IXF0
FunCoupENSG00000151322
BioGRIDNPAS3
STRING (EMBL)NPAS3
ZODIACNPAS3
Ontologies - Pathways
QuickGOQ8IXF0
Ontology : AmiGODNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleus  nucleoplasm  cytosol  regulation of transcription by RNA polymerase II  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  
Ontology : EGO-EBIDNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleus  nucleoplasm  cytosol  regulation of transcription by RNA polymerase II  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  
NDEx NetworkNPAS3
Atlas of Cancer Signalling NetworkNPAS3
Wikipedia pathwaysNPAS3
Orthology - Evolution
OrthoDB64067
GeneTree (enSembl)ENSG00000151322
Phylogenetic Trees/Animal Genes : TreeFamNPAS3
HOGENOMQ8IXF0
Homologs : HomoloGeneNPAS3
Homology/Alignments : Family Browser (UCSC)NPAS3
Gene fusions - Rearrangements
Fusion : MitelmanARID4A/NPAS3 [14q23.1/14q13.1]  [t(14;14)(q13;q23)]  
Fusion : MitelmanFOXG1/NPAS3 [14q12/14q13.1]  [t(14;14)(q12;q13)]  
Fusion : MitelmanNPAS3/AKAP6 [14q13.1/14q12]  [t(14;14)(q12;q13)]  
Fusion : MitelmanNPAS3/OXA1L [14q13.1/14q11.2]  [t(14;14)(q11;q13)]  
Fusion : MitelmanRGS6/NPAS3 [14q24.2/14q13.1]  [t(14;14)(q13;q24)]  
Fusion PortalARID4A 14q23.1 NPAS3 14q13.1 LUAD
Fusion PortalMIPOL1 14q13.3 NPAS3 14q13.1 LUAD
Fusion PortalNPAS3 14q13.1 AKAP6 14q12 LUAD
Fusion PortalRGS6 14q24.2 NPAS3 14q13.1 LGG
Fusion PortalRP11-468E2.1 NPAS3 14q13.1 LUAD
Fusion : QuiverNPAS3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPAS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPAS3
dbVarNPAS3
ClinVarNPAS3
1000_GenomesNPAS3 
Exome Variant ServerNPAS3
ExAC (Exome Aggregation Consortium)ENSG00000151322
GNOMAD BrowserENSG00000151322
Varsome BrowserNPAS3
Genetic variants : HAPMAP64067
Genomic Variants (DGV)NPAS3 [DGVbeta]
DECIPHERNPAS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPAS3 
Mutations
ICGC Data PortalNPAS3 
TCGA Data PortalNPAS3 
Broad Tumor PortalNPAS3
OASIS PortalNPAS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPAS3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNPAS3
Mutations and Diseases : HGMDNPAS3
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 NPAS3
DgiDB (Drug Gene Interaction Database)NPAS3
DoCM (Curated mutations)NPAS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPAS3 (select a term)
intoGenNPAS3
Cancer3DNPAS3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609430   
Orphanet
DisGeNETNPAS3
MedgenNPAS3
Genetic Testing Registry NPAS3
NextProtQ8IXF0 [Medical]
TSGene64067
GENETestsNPAS3
Target ValidationNPAS3
Huge Navigator NPAS3 [HugePedia]
snp3D : Map Gene to Disease64067
BioCentury BCIQNPAS3
ClinGenNPAS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64067
Chemical/Pharm GKB GenePA134968746
Clinical trialNPAS3
Miscellaneous
canSAR (ICR)NPAS3 (select the gene name)
DataMed IndexNPAS3
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPAS3
EVEXNPAS3
GoPubMedNPAS3
iHOPNPAS3
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 : Wed Nov 13 17:58:25 CET 2019
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