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NPAS4 (neuronal PAS domain protein 4)

Identity

Alias_symbol (synonym)PASD10
NXF
Le-PAS
bHLHe79
Other alias
HGNC (Hugo) NPAS4
LocusID (NCBI) 266743
Atlas_Id 70914
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66421004 and ends at 66426706 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)NPAS4   18983
Cards
Entrez_Gene (NCBI)NPAS4  266743  neuronal PAS domain protein 4
AliasesLe-PAS; NXF; PASD10; bHLHe79
GeneCards (Weizmann)NPAS4
Ensembl hg19 (Hinxton)ENSG00000174576 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174576 [Gene_View]  chr11:66421004-66426706 [Contig_View]  NPAS4 [Vega]
ICGC DataPortalENSG00000174576
TCGA cBioPortalNPAS4
AceView (NCBI)NPAS4
Genatlas (Paris)NPAS4
WikiGenes266743
SOURCE (Princeton)NPAS4
Genetics Home Reference (NIH)NPAS4
Genomic and cartography
GoldenPath hg38 (UCSC)NPAS4  -     chr11:66421004-66426706 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPAS4  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblNPAS4 - 11q13.2 [CytoView hg19]  NPAS4 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBINPAS4 [Mapview hg19]  NPAS4 [Mapview hg38]
OMIM608554   
Gene and transcription
Genbank (Entrez)AB049469 AK094025 AK096253 BC105001 BC105003
RefSeq transcript (Entrez)NM_001318804 NM_178864
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPAS4
Cluster EST : UnigeneHs.256036 [ NCBI ]
CGAP (NCI)Hs.256036
Alternative Splicing GalleryENSG00000174576
Gene ExpressionNPAS4 [ NCBI-GEO ]   NPAS4 [ EBI - ARRAY_EXPRESS ]   NPAS4 [ SEEK ]   NPAS4 [ MEM ]
Gene Expression Viewer (FireBrowse)NPAS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)266743
GTEX Portal (Tissue expression)NPAS4
Human Protein AtlasENSG00000174576-NPAS4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUM7
Splice isoforms : SwissVarQ8IUM7
PhosPhoSitePlusQ8IUM7
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    PAS    PAS_fold_3   
Domain families : Pfam (Sanger)PAS_3 (PF08447)   
Domain families : Pfam (NCBI)pfam08447   
Domain families : Smart (EMBL)PAS (SM00091)  
Conserved Domain (NCBI)NPAS4
DMDM Disease mutations266743
Blocks (Seattle)NPAS4
SuperfamilyQ8IUM7
Human Protein Atlas [tissue]ENSG00000174576-NPAS4 [tissue]
Peptide AtlasQ8IUM7
HPRD12260
IPIIPI00216785   IPI00981383   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUM7
IntAct (EBI)Q8IUM7
FunCoupENSG00000174576
BioGRIDNPAS4
STRING (EMBL)NPAS4
ZODIACNPAS4
Ontologies - Pathways
QuickGOQ8IUM7
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  transcription factor complex  transcription from RNA polymerase II promoter  learning  short-term memory  long-term memory  cell differentiation  regulation of synaptic transmission, GABAergic  social behavior  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  regulation of synaptic plasticity  excitatory postsynaptic potential  inhibitory postsynaptic potential  cellular response to corticosterone stimulus  postsynapse  inhibitory synapse assembly  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  transcription factor complex  transcription from RNA polymerase II promoter  learning  short-term memory  long-term memory  cell differentiation  regulation of synaptic transmission, GABAergic  social behavior  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  regulation of synaptic plasticity  excitatory postsynaptic potential  inhibitory postsynaptic potential  cellular response to corticosterone stimulus  postsynapse  inhibitory synapse assembly  
NDEx NetworkNPAS4
Atlas of Cancer Signalling NetworkNPAS4
Wikipedia pathwaysNPAS4
Orthology - Evolution
OrthoDB266743
GeneTree (enSembl)ENSG00000174576
Phylogenetic Trees/Animal Genes : TreeFamNPAS4
HOVERGENQ8IUM7
HOGENOMQ8IUM7
Homologs : HomoloGeneNPAS4
Homology/Alignments : Family Browser (UCSC)NPAS4
Gene fusions - Rearrangements
Tumor Fusion PortalNPAS4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPAS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPAS4
dbVarNPAS4
ClinVarNPAS4
1000_GenomesNPAS4 
Exome Variant ServerNPAS4
ExAC (Exome Aggregation Consortium)ENSG00000174576
GNOMAD BrowserENSG00000174576
Genetic variants : HAPMAP266743
Genomic Variants (DGV)NPAS4 [DGVbeta]
DECIPHERNPAS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPAS4 
Mutations
ICGC Data PortalNPAS4 
TCGA Data PortalNPAS4 
Broad Tumor PortalNPAS4
OASIS PortalNPAS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPAS4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPAS4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NPAS4
DgiDB (Drug Gene Interaction Database)NPAS4
DoCM (Curated mutations)NPAS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPAS4 (select a term)
intoGenNPAS4
Cancer3DNPAS4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608554   
Orphanet
DisGeNETNPAS4
MedgenNPAS4
Genetic Testing Registry NPAS4
NextProtQ8IUM7 [Medical]
TSGene266743
GENETestsNPAS4
Target ValidationNPAS4
Huge Navigator NPAS4 [HugePedia]
snp3D : Map Gene to Disease266743
BioCentury BCIQNPAS4
ClinGenNPAS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD266743
Chemical/Pharm GKB GenePA142671254
Clinical trialNPAS4
Miscellaneous
canSAR (ICR)NPAS4 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPAS4
EVEXNPAS4
GoPubMedNPAS4
iHOPNPAS4
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 13:24:16 CET 2017

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