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NFATC1 (nuclear factor of activated T-cells 1)

Identity

Alias_namesnuclear factor of activated T-cells
Alias_symbol (synonym)NF-ATC
NFATc
NFAT2
Other aliasNF-ATc1.2
HGNC (Hugo) NFATC1
LocusID (NCBI) 4772
Atlas_Id 43698
Location 18q23  [Link to chromosome band 18q23]
Location_base_pair Starts at 79395772 and ends at 79529323 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACVR1 (2q24.1) / NFATC1 (18q23)B4GALNT3 (12p13.33) / NFATC1 (18q23)CTDP1 (18q23) / NFATC1 (18q23)
DAPK3 (19p13.3) / NFATC1 (18q23)EWSR1 (22q12.2) / NFATC1 (18q23)NFATC1 (18q23) / EWSR1 (22q12.2)
NFATC1 (18q23) / NFATC1 (18q23)EWSR1 22q12.2 / NFATC1 18q23NFATC1 18q23 / EWSR1 22q12.2
ACVR1 2q24.1 / NFATC1 18q23CTDP1 18q23 / NFATC1 18q23

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  i(18)(q10)


External links

Nomenclature
HGNC (Hugo)NFATC1   7775
Cards
Entrez_Gene (NCBI)NFATC1  4772  nuclear factor of activated T-cells 1
AliasesNF-ATC; NF-ATc1.2; NFAT2; NFATc
GeneCards (Weizmann)NFATC1
Ensembl hg19 (Hinxton)ENSG00000131196 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131196 [Gene_View]  chr18:79395772-79529323 [Contig_View]  NFATC1 [Vega]
ICGC DataPortalENSG00000131196
TCGA cBioPortalNFATC1
AceView (NCBI)NFATC1
Genatlas (Paris)NFATC1
WikiGenes4772
SOURCE (Princeton)NFATC1
Genetics Home Reference (NIH)NFATC1
Genomic and cartography
GoldenPath hg38 (UCSC)NFATC1  -     chr18:79395772-79529323 +  18q23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFATC1  -     18q23   [Description]    (hg19-Feb_2009)
EnsemblNFATC1 - 18q23 [CytoView hg19]  NFATC1 - 18q23 [CytoView hg38]
Mapping of homologs : NCBINFATC1 [Mapview hg19]  NFATC1 [Mapview hg38]
OMIM600489   
Gene and transcription
Genbank (Entrez)AA621079 AA679278 AK292641 AK293760 AK309546
RefSeq transcript (Entrez)NM_001278669 NM_001278670 NM_001278672 NM_001278673 NM_001278675 NM_006162 NM_172387 NM_172388 NM_172389 NM_172390
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NFATC1
Cluster EST : UnigeneHs.701518 [ NCBI ]
CGAP (NCI)Hs.701518
Alternative Splicing GalleryENSG00000131196
Gene ExpressionNFATC1 [ NCBI-GEO ]   NFATC1 [ EBI - ARRAY_EXPRESS ]   NFATC1 [ SEEK ]   NFATC1 [ MEM ]
Gene Expression Viewer (FireBrowse)NFATC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4772
GTEX Portal (Tissue expression)NFATC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95644   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95644  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95644
Splice isoforms : SwissVarO95644
PhosPhoSitePlusO95644
Domaine pattern : Prosite (Expaxy)REL_2 (PS50254)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    IPT    NFAT    NFAT1    p53-like_TF_DNA-bd    RHD_dimer    RHD_DNA_bind_dom   
Domain families : Pfam (Sanger)RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam16179    pfam00554   
Domain families : Smart (EMBL)IPT (SM00429)  
Conserved Domain (NCBI)NFATC1
DMDM Disease mutations4772
Blocks (Seattle)NFATC1
PDB (SRS)1A66    1NFA   
PDB (PDBSum)1A66    1NFA   
PDB (IMB)1A66    1NFA   
PDB (RSDB)1A66    1NFA   
Structural Biology KnowledgeBase1A66    1NFA   
SCOP (Structural Classification of Proteins)1A66    1NFA   
CATH (Classification of proteins structures)1A66    1NFA   
SuperfamilyO95644
Human Protein AtlasENSG00000131196
Peptide AtlasO95644
HPRD02729
IPIIPI00032069   IPI00336007   IPI00221155   IPI00221156   IPI00221157   IPI00221158   IPI00759791   IPI00395394   IPI00759774   IPI00975550   IPI01018831   IPI01018646   
Protein Interaction databases
DIP (DOE-UCLA)O95644
IntAct (EBI)O95644
FunCoupENSG00000131196
BioGRIDNFATC1
STRING (EMBL)NFATC1
ZODIACNFATC1
Ontologies - Pathways
QuickGOO95644
Ontology : AmiGOnuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  RNA polymerase II transcription coactivator binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  FK506 binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  Wnt signaling pathway, calcium modulating pathway  nuclear body  calcineurin-NFAT signaling cascade  intracellular signal transduction  Fc-epsilon receptor signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  mitogen-activated protein kinase p38 binding  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  RNA polymerase II transcription coactivator binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  FK506 binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  Wnt signaling pathway, calcium modulating pathway  nuclear body  calcineurin-NFAT signaling cascade  intracellular signal transduction  Fc-epsilon receptor signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  mitogen-activated protein kinase p38 binding  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
NDEx NetworkNFATC1
Atlas of Cancer Signalling NetworkNFATC1
Wikipedia pathwaysNFATC1
Orthology - Evolution
OrthoDB4772
GeneTree (enSembl)ENSG00000131196
Phylogenetic Trees/Animal Genes : TreeFamNFATC1
HOVERGENO95644
HOGENOMO95644
Homologs : HomoloGeneNFATC1
Homology/Alignments : Family Browser (UCSC)NFATC1
Gene fusions - Rearrangements
Fusion : MitelmanACVR1/NFATC1 [2q24.1/18q23]  [t(2;18)(q24;q23)]  
Fusion : MitelmanEWSR1/NFATC1 [22q12.2/18q23]  [t(18;22)(q23;q12)]  
Fusion: TCGAACVR1 2q24.1 NFATC1 18q23 OV
Fusion: TCGACTDP1 18q23 NFATC1 18q23 LAML
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFATC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFATC1
dbVarNFATC1
ClinVarNFATC1
1000_GenomesNFATC1 
Exome Variant ServerNFATC1
ExAC (Exome Aggregation Consortium)NFATC1 (select the gene name)
Genetic variants : HAPMAP4772
Genomic Variants (DGV)NFATC1 [DGVbeta]
DECIPHERNFATC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFATC1 
Mutations
ICGC Data PortalNFATC1 
TCGA Data PortalNFATC1 
Broad Tumor PortalNFATC1
OASIS PortalNFATC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFATC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNFATC1
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 NFATC1
DgiDB (Drug Gene Interaction Database)NFATC1
DoCM (Curated mutations)NFATC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFATC1 (select a term)
intoGenNFATC1
Cancer3DNFATC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600489   
Orphanet
MedgenNFATC1
Genetic Testing Registry NFATC1
NextProtO95644 [Medical]
TSGene4772
GENETestsNFATC1
Target ValidationNFATC1
Huge Navigator NFATC1 [HugePedia]
snp3D : Map Gene to Disease4772
BioCentury BCIQNFATC1
ClinGenNFATC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4772
Chemical/Pharm GKB GenePA31582
Clinical trialNFATC1
Miscellaneous
canSAR (ICR)NFATC1 (select the gene name)
Probes
Litterature
PubMed185 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFATC1
EVEXNFATC1
GoPubMedNFATC1
iHOPNFATC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:22:01 CEST 2017

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