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NCSTN (nicastrin)

Identity

Other namesATAG1874
HGNC (Hugo) NCSTN
LocusID (NCBI) 23385
Atlas_Id 46883
Location 1q23.2  [Link to chromosome band 1q23]
Location_base_pair Starts at 160313063 and ends at 160328742 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CMTM3 (16q21) / NCSTN (1q23.2)NCSTN (1q23.2) / ATP1A4 (1q23.2)NCSTN (1q23.2) / CYP19A1 (15q21.2)
NCSTN (1q23.2) / NCSTN (1q23.2)NCSTN (1q23.2) / SPRR2G (1q21.3)NCSTN (1q23.2) / SREBF1 (17p11.2)
NCSTN 1q23.2 / ATP1A4 1q23.2NCSTN 1q23.2 / SPRR2G 1q21.3NCSTN 1q23.2 / SREBF1 17p11.2

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 ]
  Chronic Myelomonocytic Leukemia (CMML)

External links

Nomenclature
HGNC (Hugo)NCSTN   17091
Cards
Entrez_Gene (NCBI)NCSTN  23385  nicastrin
AliasesATAG1874
GeneCards (Weizmann)NCSTN
Ensembl hg19 (Hinxton)ENSG00000162736 [Gene_View]  chr1:160313063-160328742 [Contig_View]  NCSTN [Vega]
Ensembl hg38 (Hinxton)ENSG00000162736 [Gene_View]  chr1:160313063-160328742 [Contig_View]  NCSTN [Vega]
ICGC DataPortalENSG00000162736
TCGA cBioPortalNCSTN
AceView (NCBI)NCSTN
Genatlas (Paris)NCSTN
WikiGenes23385
SOURCE (Princeton)NCSTN
Genomic and cartography
GoldenPath hg19 (UCSC)NCSTN  -     chr1:160313063-160328742 +  1q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NCSTN  -     1q23.2   [Description]    (hg38-Dec_2013)
EnsemblNCSTN - 1q23.2 [CytoView hg19]  NCSTN - 1q23.2 [CytoView hg38]
Mapping of homologs : NCBINCSTN [Mapview hg19]  NCSTN [Mapview hg38]
OMIM142690   605254   
Gene and transcription
Genbank (Entrez)AF240468 AK296153 AK299142 AK310741 AK314764
RefSeq transcript (Entrez)NM_001290184 NM_001290186 NM_015331
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_027935 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)NCSTN
Cluster EST : UnigeneHs.517249 [ NCBI ]
CGAP (NCI)Hs.517249
Alternative Splicing GalleryENSG00000162736
Gene ExpressionNCSTN [ NCBI-GEO ]   NCSTN [ EBI - ARRAY_EXPRESS ]   NCSTN [ SEEK ]   NCSTN [ MEM ]
Gene Expression Viewer (FireBrowse)NCSTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23385
GTEX Portal (Tissue expression)NCSTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92542 (Uniprot)
NextProtQ92542  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92542
Splice isoforms : SwissVarQ92542 (Swissvar)
PhosPhoSitePlusQ92542
Domains : Interpro (EBI)Nicastrin   
Domain families : Pfam (Sanger)Nicastrin (PF05450)   
Domain families : Pfam (NCBI)pfam05450   
DMDM Disease mutations23385
Blocks (Seattle)NCSTN
PDB (SRS)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
PDB (PDBSum)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
PDB (IMB)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
PDB (RSDB)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
Structural Biology KnowledgeBase4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
SCOP (Structural Classification of Proteins)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
CATH (Classification of proteins structures)4UIS    4UPC    5A63    5FN2    5FN3    5FN4    5FN5   
SuperfamilyQ92542
Human Protein AtlasENSG00000162736
Peptide AtlasQ92542
HPRD05584
IPIIPI00021983   IPI00375688   IPI00515093   IPI01010317   IPI00514793   IPI00514580   IPI00514703   IPI00513841   IPI00514877   
Protein Interaction databases
DIP (DOE-UCLA)Q92542
IntAct (EBI)Q92542
FunCoupENSG00000162736
BioGRIDNCSTN
STRING (EMBL)NCSTN
ZODIACNCSTN
Ontologies - Pathways
QuickGOQ92542
Ontology : AmiGOmyeloid cell homeostasis  endopeptidase activity  protein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  focal adhesion  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  membrane  integral component of membrane  protein processing  protein processing  membrane protein intracellular domain proteolysis  T cell proliferation  melanosome  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of catalytic activity  ephrin receptor signaling pathway  beta-amyloid metabolic process  epithelial cell proliferation  extracellular exosome  
Ontology : EGO-EBImyeloid cell homeostasis  endopeptidase activity  protein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  focal adhesion  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  membrane  integral component of membrane  protein processing  protein processing  membrane protein intracellular domain proteolysis  T cell proliferation  melanosome  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of catalytic activity  ephrin receptor signaling pathway  beta-amyloid metabolic process  epithelial cell proliferation  extracellular exosome  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
NDEx NetworkNCSTN
Atlas of Cancer Signalling NetworkNCSTN
Wikipedia pathwaysNCSTN
Orthology - Evolution
OrthoDB23385
GeneTree (enSembl)ENSG00000162736
Phylogenetic Trees/Animal Genes : TreeFamNCSTN
Homologs : HomoloGeneNCSTN
Homology/Alignments : Family Browser (UCSC)NCSTN
Gene fusions - Rearrangements
Fusion: TCGANCSTN 1q23.2 ATP1A4 1q23.2 BRCA
Fusion: TCGANCSTN 1q23.2 SPRR2G 1q21.3 LUAD
Fusion: TCGANCSTN 1q23.2 SREBF1 17p11.2 PRAD
Polymorphisms : SNP, variants
NCBI Variation ViewerNCSTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCSTN
dbVarNCSTN
ClinVarNCSTN
1000_GenomesNCSTN 
Exome Variant ServerNCSTN
ExAC (Exome Aggregation Consortium)NCSTN (select the gene name)
Genetic variants : HAPMAP23385
Genomic Variants (DGV)NCSTN [DGVbeta]
Mutations
ICGC Data PortalNCSTN 
TCGA Data PortalNCSTN 
Broad Tumor PortalNCSTN
OASIS PortalNCSTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNCSTN 
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch NCSTN
DgiDB (Drug Gene Interaction Database)NCSTN
DoCM (Curated mutations)NCSTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NCSTN (select a term)
intoGenNCSTN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:160313063-160328742  ENSG00000162736
CONAN: Copy Number AnalysisNCSTN 
Mutations and Diseases : HGMDNCSTN
OMIM142690    605254   
MedgenNCSTN
Genetic Testing Registry NCSTN
NextProtQ92542 [Medical]
TSGene23385
GENETestsNCSTN
Huge Navigator NCSTN [HugePedia]
snp3D : Map Gene to Disease23385
BioCentury BCIQNCSTN
ClinGenNCSTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23385
Chemical/Pharm GKB GenePA142671271
Clinical trialNCSTN
Miscellaneous
canSAR (ICR)NCSTN (select the gene name)
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNCSTN
EVEXNCSTN
GoPubMedNCSTN
iHOPNCSTN
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 : Mon Sep 19 19:04:10 CEST 2016

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