Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NPAS1 (neuronal PAS domain protein 1)

Identity

Alias_symbol (synonym)MOP5
PASD5
bHLHe11
Other alias
HGNC (Hugo) NPAS1
LocusID (NCBI) 4861
Atlas_Id 70913
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 47524143 and ends at 47549017 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TCF12 (15q21.3) / NPAS1 (19q13.32)

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)NPAS1   7894
Cards
Entrez_Gene (NCBI)NPAS1  4861  neuronal PAS domain protein 1
AliasesMOP5; PASD5; bHLHe11
GeneCards (Weizmann)NPAS1
Ensembl hg19 (Hinxton)ENSG00000130751 [Gene_View]  chr19:47524143-47549017 [Contig_View]  NPAS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130751 [Gene_View]  chr19:47524143-47549017 [Contig_View]  NPAS1 [Vega]
ICGC DataPortalENSG00000130751
TCGA cBioPortalNPAS1
AceView (NCBI)NPAS1
Genatlas (Paris)NPAS1
WikiGenes4861
SOURCE (Princeton)NPAS1
Genetics Home Reference (NIH)NPAS1
Genomic and cartography
GoldenPath hg19 (UCSC)NPAS1  -     chr19:47524143-47549017 +  19q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NPAS1  -     19q13.32   [Description]    (hg38-Dec_2013)
EnsemblNPAS1 - 19q13.32 [CytoView hg19]  NPAS1 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBINPAS1 [Mapview hg19]  NPAS1 [Mapview hg38]
OMIM603346   
Gene and transcription
Genbank (Entrez)AB054002 AK299128 BC039016 U51628 U77968
RefSeq transcript (Entrez)NM_002517
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)NPAS1
Cluster EST : UnigeneHs.79564 [ NCBI ]
CGAP (NCI)Hs.79564
Alternative Splicing GalleryENSG00000130751
Gene ExpressionNPAS1 [ NCBI-GEO ]   NPAS1 [ EBI - ARRAY_EXPRESS ]   NPAS1 [ SEEK ]   NPAS1 [ MEM ]
Gene Expression Viewer (FireBrowse)NPAS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4861
GTEX Portal (Tissue expression)NPAS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99742   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99742  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99742
Splice isoforms : SwissVarQ99742
PhosPhoSitePlusQ99742
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    PAC    PAS    PAS_fold    PAS_fold_3   
Domain families : Pfam (Sanger)HLH (PF00010)    PAS (PF00989)    PAS_3 (PF08447)   
Domain families : Pfam (NCBI)pfam00010    pfam00989    pfam08447   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
Conserved Domain (NCBI)NPAS1
DMDM Disease mutations4861
Blocks (Seattle)NPAS1
SuperfamilyQ99742
Human Protein AtlasENSG00000130751
Peptide AtlasQ99742
HPRD09136
IPIIPI00293815   IPI00910071   
Protein Interaction databases
DIP (DOE-UCLA)Q99742
IntAct (EBI)Q99742
FunCoupENSG00000130751
BioGRIDNPAS1
STRING (EMBL)NPAS1
ZODIACNPAS1
Ontologies - Pathways
QuickGOQ99742
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  sequence-specific DNA binding RNA polymerase II transcription factor activity  startle response  DNA binding  sequence-specific DNA binding transcription factor activity  signal transducer activity  nucleus  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  signal transduction  central nervous system development  maternal behavior  protein dimerization activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  sequence-specific DNA binding RNA polymerase II transcription factor activity  startle response  DNA binding  sequence-specific DNA binding transcription factor activity  signal transducer activity  nucleus  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  signal transduction  central nervous system development  maternal behavior  protein dimerization activity  
NDEx NetworkNPAS1
Atlas of Cancer Signalling NetworkNPAS1
Wikipedia pathwaysNPAS1
Orthology - Evolution
OrthoDB4861
GeneTree (enSembl)ENSG00000130751
Phylogenetic Trees/Animal Genes : TreeFamNPAS1
HOVERGENQ99742
HOGENOMQ99742
Homologs : HomoloGeneNPAS1
Homology/Alignments : Family Browser (UCSC)NPAS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPAS1
dbVarNPAS1
ClinVarNPAS1
1000_GenomesNPAS1 
Exome Variant ServerNPAS1
ExAC (Exome Aggregation Consortium)NPAS1 (select the gene name)
Genetic variants : HAPMAP4861
Genomic Variants (DGV)NPAS1 [DGVbeta]
DECIPHER (Syndromes)19:47524143-47549017  ENSG00000130751
CONAN: Copy Number AnalysisNPAS1 
Mutations
ICGC Data PortalNPAS1 
TCGA Data PortalNPAS1 
Broad Tumor PortalNPAS1
OASIS PortalNPAS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPAS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPAS1
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 NPAS1
DgiDB (Drug Gene Interaction Database)NPAS1
DoCM (Curated mutations)NPAS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPAS1 (select a term)
intoGenNPAS1
Cancer3DNPAS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603346   
Orphanet
MedgenNPAS1
Genetic Testing Registry NPAS1
NextProtQ99742 [Medical]
TSGene4861
GENETestsNPAS1
Huge Navigator NPAS1 [HugePedia]
snp3D : Map Gene to Disease4861
BioCentury BCIQNPAS1
ClinGenNPAS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4861
Chemical/Pharm GKB GenePA31695
Clinical trialNPAS1
Miscellaneous
canSAR (ICR)NPAS1 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPAS1
EVEXNPAS1
GoPubMedNPAS1
iHOPNPAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:35:11 CET 2017

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