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NISCH (nischarin)

Identity

Alias_symbol (synonym)KIAA0975
I-1
IRAS
Other aliasIR1
hIRAS
HGNC (Hugo) NISCH
LocusID (NCBI) 11188
Atlas_Id 52509
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52489524 and ends at 52515926 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C2CD3 (11q13.4) / NISCH (3p21.1)DNAH7 (2q32.3) / NISCH (3p21.1)NISCH (3p21.1) / NISCH (3p21.1)
NISCH (3p21.1) / NOLC1 (10q24.32)NISCH (3p21.1) / NXN (17p13.3)NISCH (3p21.1) / PBRM1 (3p21.1)
RPS8 (1p34.1) / NISCH (3p21.1)NISCH 3p21.1 / PBRM1 3p21.1

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)NISCH   18006
Cards
Entrez_Gene (NCBI)NISCH  11188  nischarin
AliasesI-1; IR1; IRAS; hIRAS
GeneCards (Weizmann)NISCH
Ensembl hg19 (Hinxton)ENSG00000010322 [Gene_View]  chr3:52489524-52515926 [Contig_View]  NISCH [Vega]
Ensembl hg38 (Hinxton)ENSG00000010322 [Gene_View]  chr3:52489524-52515926 [Contig_View]  NISCH [Vega]
ICGC DataPortalENSG00000010322
TCGA cBioPortalNISCH
AceView (NCBI)NISCH
Genatlas (Paris)NISCH
WikiGenes11188
SOURCE (Princeton)NISCH
Genetics Home Reference (NIH)NISCH
Genomic and cartography
GoldenPath hg19 (UCSC)NISCH  -     chr3:52489524-52515926 +  3p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NISCH  -     3p21.1   [Description]    (hg38-Dec_2013)
EnsemblNISCH - 3p21.1 [CytoView hg19]  NISCH - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBINISCH [Mapview hg19]  NISCH [Mapview hg38]
OMIM615507   
Gene and transcription
Genbank (Entrez)AB023192 AF058290 AF082516 AI889216 AK001505
RefSeq transcript (Entrez)NM_001276293 NM_001276294 NM_007184
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_033112 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)NISCH
Cluster EST : UnigeneHs.435290 [ NCBI ]
CGAP (NCI)Hs.435290
Alternative Splicing GalleryENSG00000010322
Gene ExpressionNISCH [ NCBI-GEO ]   NISCH [ EBI - ARRAY_EXPRESS ]   NISCH [ SEEK ]   NISCH [ MEM ]
Gene Expression Viewer (FireBrowse)NISCH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11188
GTEX Portal (Tissue expression)NISCH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2I1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2I1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2I1
Splice isoforms : SwissVarQ9Y2I1
PhosPhoSitePlusQ9Y2I1
Domaine pattern : Prosite (Expaxy)LRR (PS51450)    PX (PS50195)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt    Phox   
Domain families : Pfam (Sanger)PX (PF00787)   
Domain families : Pfam (NCBI)pfam00787   
Domain families : Smart (EMBL)PX (SM00312)  
Conserved Domain (NCBI)NISCH
DMDM Disease mutations11188
Blocks (Seattle)NISCH
PDB (SRS)3P0C   
PDB (PDBSum)3P0C   
PDB (IMB)3P0C   
PDB (RSDB)3P0C   
Structural Biology KnowledgeBase3P0C   
SCOP (Structural Classification of Proteins)3P0C   
CATH (Classification of proteins structures)3P0C   
SuperfamilyQ9Y2I1
Human Protein AtlasENSG00000010322
Peptide AtlasQ9Y2I1
HPRD11391
IPIIPI00032187   IPI00792206   IPI00795420   IPI00902963   IPI00792876   IPI00795456   IPI00953038   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2I1
IntAct (EBI)Q9Y2I1
FunCoupENSG00000010322
BioGRIDNISCH
STRING (EMBL)NISCH
ZODIACNISCH
Ontologies - Pathways
QuickGOQ9Y2I1
Ontology : AmiGOintegrin binding  protein binding  early endosome  cytosol  plasma membrane  glucose metabolic process  apoptotic process  regulation of blood pressure  membrane  Rac protein signal transduction  actin cytoskeleton organization  negative regulation of cell migration  regulation of synaptic transmission, GABAergic  phosphatidylinositol binding  identical protein binding  norepinephrine secretion  recycling endosome  
Ontology : EGO-EBIintegrin binding  protein binding  early endosome  cytosol  plasma membrane  glucose metabolic process  apoptotic process  regulation of blood pressure  membrane  Rac protein signal transduction  actin cytoskeleton organization  negative regulation of cell migration  regulation of synaptic transmission, GABAergic  phosphatidylinositol binding  identical protein binding  norepinephrine secretion  recycling endosome  
NDEx NetworkNISCH
Atlas of Cancer Signalling NetworkNISCH
Wikipedia pathwaysNISCH
Orthology - Evolution
OrthoDB11188
GeneTree (enSembl)ENSG00000010322
Phylogenetic Trees/Animal Genes : TreeFamNISCH
HOVERGENQ9Y2I1
HOGENOMQ9Y2I1
Homologs : HomoloGeneNISCH
Homology/Alignments : Family Browser (UCSC)NISCH
Gene fusions - Rearrangements
Fusion : MitelmanNISCH/PBRM1 [3p21.1/3p21.1]  
Fusion: TCGANISCH 3p21.1 PBRM1 3p21.1 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNISCH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NISCH
dbVarNISCH
ClinVarNISCH
1000_GenomesNISCH 
Exome Variant ServerNISCH
ExAC (Exome Aggregation Consortium)NISCH (select the gene name)
Genetic variants : HAPMAP11188
Genomic Variants (DGV)NISCH [DGVbeta]
DECIPHER (Syndromes)3:52489524-52515926  ENSG00000010322
CONAN: Copy Number AnalysisNISCH 
Mutations
ICGC Data PortalNISCH 
TCGA Data PortalNISCH 
Broad Tumor PortalNISCH
OASIS PortalNISCH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNISCH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNISCH
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 NISCH
DgiDB (Drug Gene Interaction Database)NISCH
DoCM (Curated mutations)NISCH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NISCH (select a term)
intoGenNISCH
Cancer3DNISCH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615507   
Orphanet
MedgenNISCH
Genetic Testing Registry NISCH
NextProtQ9Y2I1 [Medical]
TSGene11188
GENETestsNISCH
Huge Navigator NISCH [HugePedia]
snp3D : Map Gene to Disease11188
BioCentury BCIQNISCH
ClinGenNISCH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11188
Chemical/Pharm GKB GenePA31635
Clinical trialNISCH
Miscellaneous
canSAR (ICR)NISCH (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNISCH
EVEXNISCH
GoPubMedNISCH
iHOPNISCH
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 13:18:52 CET 2017

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