Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NHLH1 (nescient helix-loop-helix 1)

Identity

Alias_namesHEN1
nescient helix loop helix 1
Alias_symbol (synonym)NSCL
NSCL1
bHLHa35
Other alias
HGNC (Hugo) NHLH1
LocusID (NCBI) 4807
Atlas_Id 41536
Location 1q23.2  [Link to chromosome band 1q23]
Location_base_pair Starts at 160336861 and ends at 160342638 bp from pter ( according to hg19-Feb_2009)

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)NHLH1   7817
Cards
Entrez_Gene (NCBI)NHLH1  4807  nescient helix-loop-helix 1
AliasesHEN1; NSCL; NSCL1; bHLHa35
GeneCards (Weizmann)NHLH1
Ensembl hg19 (Hinxton)ENSG00000171786 [Gene_View]  chr1:160336861-160342638 [Contig_View]  NHLH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171786 [Gene_View]  chr1:160336861-160342638 [Contig_View]  NHLH1 [Vega]
ICGC DataPortalENSG00000171786
TCGA cBioPortalNHLH1
AceView (NCBI)NHLH1
Genatlas (Paris)NHLH1
WikiGenes4807
SOURCE (Princeton)NHLH1
Genetics Home Reference (NIH)NHLH1
Genomic and cartography
GoldenPath hg19 (UCSC)NHLH1  -     chr1:160336861-160342638 +  1q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NHLH1  -     1q23.2   [Description]    (hg38-Dec_2013)
EnsemblNHLH1 - 1q23.2 [CytoView hg19]  NHLH1 - 1q23.2 [CytoView hg38]
Mapping of homologs : NCBINHLH1 [Mapview hg19]  NHLH1 [Mapview hg38]
OMIM162360   
Gene and transcription
Genbank (Entrez)AK313700 BC013789 BT006859 DA612092 GQ129357
RefSeq transcript (Entrez)NM_005598
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)NHLH1
Cluster EST : UnigeneHs.30956 [ NCBI ]
CGAP (NCI)Hs.30956
Alternative Splicing GalleryENSG00000171786
Gene ExpressionNHLH1 [ NCBI-GEO ]   NHLH1 [ EBI - ARRAY_EXPRESS ]   NHLH1 [ SEEK ]   NHLH1 [ MEM ]
Gene Expression Viewer (FireBrowse)NHLH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4807
GTEX Portal (Tissue expression)NHLH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02575   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02575  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02575
Splice isoforms : SwissVarQ02575
PhosPhoSitePlusQ02575
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)NHLH1
DMDM Disease mutations4807
Blocks (Seattle)NHLH1
SuperfamilyQ02575
Human Protein AtlasENSG00000171786
Peptide AtlasQ02575
HPRD01212
IPIIPI00026245   
Protein Interaction databases
DIP (DOE-UCLA)Q02575
IntAct (EBI)Q02575
FunCoupENSG00000171786
BioGRIDNHLH1
STRING (EMBL)NHLH1
ZODIACNHLH1
Ontologies - Pathways
QuickGOQ02575
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  central nervous system development  cell differentiation  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  central nervous system development  cell differentiation  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  
NDEx NetworkNHLH1
Atlas of Cancer Signalling NetworkNHLH1
Wikipedia pathwaysNHLH1
Orthology - Evolution
OrthoDB4807
GeneTree (enSembl)ENSG00000171786
Phylogenetic Trees/Animal Genes : TreeFamNHLH1
HOVERGENQ02575
HOGENOMQ02575
Homologs : HomoloGeneNHLH1
Homology/Alignments : Family Browser (UCSC)NHLH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNHLH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NHLH1
dbVarNHLH1
ClinVarNHLH1
1000_GenomesNHLH1 
Exome Variant ServerNHLH1
ExAC (Exome Aggregation Consortium)NHLH1 (select the gene name)
Genetic variants : HAPMAP4807
Genomic Variants (DGV)NHLH1 [DGVbeta]
DECIPHER (Syndromes)1:160336861-160342638  ENSG00000171786
CONAN: Copy Number AnalysisNHLH1 
Mutations
ICGC Data PortalNHLH1 
TCGA Data PortalNHLH1 
Broad Tumor PortalNHLH1
OASIS PortalNHLH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNHLH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNHLH1
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 NHLH1
DgiDB (Drug Gene Interaction Database)NHLH1
DoCM (Curated mutations)NHLH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NHLH1 (select a term)
intoGenNHLH1
Cancer3DNHLH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162360   
Orphanet
MedgenNHLH1
Genetic Testing Registry NHLH1
NextProtQ02575 [Medical]
TSGene4807
GENETestsNHLH1
Huge Navigator NHLH1 [HugePedia]
snp3D : Map Gene to Disease4807
BioCentury BCIQNHLH1
ClinGenNHLH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4807
Chemical/Pharm GKB GenePA31619
Clinical trialNHLH1
Miscellaneous
canSAR (ICR)NHLH1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNHLH1
EVEXNHLH1
GoPubMedNHLH1
iHOPNHLH1
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 Mar 14 13:18:49 CET 2017

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