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ISX (intestine specific homeobox)

Identity

Alias_namesintestine-specific homeobox
Alias_symbol (synonym)RAXLX
Other aliasPix-1
HGNC (Hugo) ISX
LocusID (NCBI) 91464
Atlas_Id 54387
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 35462129 and ends at 35483380 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APOL3 (22q12.3) / ISX (22q12.3)RNF185 (22q12.2) / ISX (22q12.3)RNF185 22q12.2 / ISX 22q12.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ISX   28084
Cards
Entrez_Gene (NCBI)ISX  91464  intestine specific homeobox
AliasesPix-1; RAXLX
GeneCards (Weizmann)ISX
Ensembl hg19 (Hinxton)ENSG00000175329 [Gene_View]  chr22:35462129-35483380 [Contig_View]  ISX [Vega]
Ensembl hg38 (Hinxton)ENSG00000175329 [Gene_View]  chr22:35462129-35483380 [Contig_View]  ISX [Vega]
ICGC DataPortalENSG00000175329
TCGA cBioPortalISX
AceView (NCBI)ISX
Genatlas (Paris)ISX
WikiGenes91464
SOURCE (Princeton)ISX
Genetics Home Reference (NIH)ISX
Genomic and cartography
GoldenPath hg19 (UCSC)ISX  -     chr22:35462129-35483380 +  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ISX  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblISX - 22q12.3 [CytoView hg19]  ISX - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIISX [Mapview hg19]  ISX [Mapview hg38]
OMIM612019   
Gene and transcription
Genbank (Entrez)AB219123 AK025181 BC112212 BC113633 CR749372
RefSeq transcript (Entrez)NM_001008494 NM_001303508
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)ISX
Cluster EST : UnigeneHs.567637 [ NCBI ]
CGAP (NCI)Hs.567637
Alternative Splicing GalleryENSG00000175329
Gene ExpressionISX [ NCBI-GEO ]   ISX [ EBI - ARRAY_EXPRESS ]   ISX [ SEEK ]   ISX [ MEM ]
Gene Expression Viewer (FireBrowse)ISX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91464
GTEX Portal (Tissue expression)ISX
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2M1V0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2M1V0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2M1V0
Splice isoforms : SwissVarQ2M1V0
PhosPhoSitePlusQ2M1V0
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)ISX
DMDM Disease mutations91464
Blocks (Seattle)ISX
SuperfamilyQ2M1V0
Human Protein AtlasENSG00000175329
Peptide AtlasQ2M1V0
HPRD17957
IPIIPI00178348   
Protein Interaction databases
DIP (DOE-UCLA)Q2M1V0
IntAct (EBI)Q2M1V0
FunCoupENSG00000175329
BioGRIDISX
STRING (EMBL)ISX
ZODIACISX
Ontologies - Pathways
QuickGOQ2M1V0
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription, DNA-templated  sequence-specific DNA binding  regulation of vitamin A metabolic process  negative regulation of intestinal absorption  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription, DNA-templated  sequence-specific DNA binding  regulation of vitamin A metabolic process  negative regulation of intestinal absorption  
NDEx NetworkISX
Atlas of Cancer Signalling NetworkISX
Wikipedia pathwaysISX
Orthology - Evolution
OrthoDB91464
GeneTree (enSembl)ENSG00000175329
Phylogenetic Trees/Animal Genes : TreeFamISX
HOVERGENQ2M1V0
HOGENOMQ2M1V0
Homologs : HomoloGeneISX
Homology/Alignments : Family Browser (UCSC)ISX
Gene fusions - Rearrangements
Fusion : MitelmanAPOL3/ISX [22q12.3/22q12.3]  [t(22;22)(q12;q12)]  
Fusion : MitelmanRNF185/ISX [22q12.2/22q12.3]  [t(22;22)(q12;q12)]  
Fusion: TCGARNF185 22q12.2 ISX 22q12.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISX
dbVarISX
ClinVarISX
1000_GenomesISX 
Exome Variant ServerISX
ExAC (Exome Aggregation Consortium)ISX (select the gene name)
Genetic variants : HAPMAP91464
Genomic Variants (DGV)ISX [DGVbeta]
DECIPHER (Syndromes)22:35462129-35483380  ENSG00000175329
CONAN: Copy Number AnalysisISX 
Mutations
ICGC Data PortalISX 
TCGA Data PortalISX 
Broad Tumor PortalISX
OASIS PortalISX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISX
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 ISX
DgiDB (Drug Gene Interaction Database)ISX
DoCM (Curated mutations)ISX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISX (select a term)
intoGenISX
Cancer3DISX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612019   
Orphanet
MedgenISX
Genetic Testing Registry ISX
NextProtQ2M1V0 [Medical]
TSGene91464
GENETestsISX
Huge Navigator ISX [HugePedia]
snp3D : Map Gene to Disease91464
BioCentury BCIQISX
ClinGenISX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91464
Chemical/Pharm GKB GenePA147357909
Clinical trialISX
Miscellaneous
canSAR (ICR)ISX (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISX
EVEXISX
GoPubMedISX
iHOPISX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:31 CEST 2017

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