Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ESX1 (ESX homeobox 1)

Identity

Alias_namesESX1L
extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)
Alias_symbol (synonym)ESXR1
Other alias
HGNC (Hugo) ESX1
LocusID (NCBI) 80712
Atlas_Id 62924
Location Xq22.2  [Link to chromosome band Xq22]
Location_base_pair Starts at 104250038 and ends at 104254918 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)ESX1   14865
Cards
Entrez_Gene (NCBI)ESX1  80712  ESX homeobox 1
AliasesESX1L; ESXR1
GeneCards (Weizmann)ESX1
Ensembl hg19 (Hinxton)ENSG00000123576 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123576 [Gene_View]  chrX:104250038-104254918 [Contig_View]  ESX1 [Vega]
ICGC DataPortalENSG00000123576
TCGA cBioPortalESX1
AceView (NCBI)ESX1
Genatlas (Paris)ESX1
WikiGenes80712
SOURCE (Princeton)ESX1
Genetics Home Reference (NIH)ESX1
Genomic and cartography
GoldenPath hg38 (UCSC)ESX1  -     chrX:104250038-104254918 -  Xq22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESX1  -     Xq22.2   [Description]    (hg19-Feb_2009)
EnsemblESX1 - Xq22.2 [CytoView hg19]  ESX1 - Xq22.2 [CytoView hg38]
Mapping of homologs : NCBIESX1 [Mapview hg19]  ESX1 [Mapview hg38]
OMIM300154   
Gene and transcription
Genbank (Entrez)AK097704 AY114148 BC042633 BC053599
RefSeq transcript (Entrez)NM_153448
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESX1
Cluster EST : UnigeneHs.223782 [ NCBI ]
CGAP (NCI)Hs.223782
Alternative Splicing GalleryENSG00000123576
Gene ExpressionESX1 [ NCBI-GEO ]   ESX1 [ EBI - ARRAY_EXPRESS ]   ESX1 [ SEEK ]   ESX1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80712
GTEX Portal (Tissue expression)ESX1
Human Protein AtlasENSG00000123576-ESX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N693   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N693  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N693
Splice isoforms : SwissVarQ8N693
PhosPhoSitePlusQ8N693
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    POU   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)ESX1
DMDM Disease mutations80712
Blocks (Seattle)ESX1
SuperfamilyQ8N693
Human Protein Atlas [tissue]ENSG00000123576-ESX1 [tissue]
Peptide AtlasQ8N693
HPRD06503
IPIIPI00166966   
Protein Interaction databases
DIP (DOE-UCLA)Q8N693
IntAct (EBI)Q8N693
FunCoupENSG00000123576
BioGRIDESX1
STRING (EMBL)ESX1
ZODIACESX1
Ontologies - Pathways
QuickGOQ8N693
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  cytoplasm  transcription, DNA-templated  nuclear speck  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  regulation of cell cycle  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  cytoplasm  transcription, DNA-templated  nuclear speck  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  regulation of cell cycle  
NDEx NetworkESX1
Atlas of Cancer Signalling NetworkESX1
Wikipedia pathwaysESX1
Orthology - Evolution
OrthoDB80712
GeneTree (enSembl)ENSG00000123576
Phylogenetic Trees/Animal Genes : TreeFamESX1
HOVERGENQ8N693
HOGENOMQ8N693
Homologs : HomoloGeneESX1
Homology/Alignments : Family Browser (UCSC)ESX1
Gene fusions - Rearrangements
Fusion: Tumor Portal ESX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESX1
dbVarESX1
ClinVarESX1
1000_GenomesESX1 
Exome Variant ServerESX1
ExAC (Exome Aggregation Consortium)ENSG00000123576
GNOMAD BrowserENSG00000123576
Genetic variants : HAPMAP80712
Genomic Variants (DGV)ESX1 [DGVbeta]
DECIPHERESX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESX1 
Mutations
ICGC Data PortalESX1 
TCGA Data PortalESX1 
Broad Tumor PortalESX1
OASIS PortalESX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch ESX1
DgiDB (Drug Gene Interaction Database)ESX1
DoCM (Curated mutations)ESX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESX1 (select a term)
intoGenESX1
Cancer3DESX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300154   
Orphanet
MedgenESX1
Genetic Testing Registry ESX1
NextProtQ8N693 [Medical]
TSGene80712
GENETestsESX1
Target ValidationESX1
Huge Navigator ESX1 [HugePedia]
snp3D : Map Gene to Disease80712
BioCentury BCIQESX1
ClinGenESX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80712
Chemical/Pharm GKB GenePA27892
Clinical trialESX1
Miscellaneous
canSAR (ICR)ESX1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESX1
EVEXESX1
GoPubMedESX1
iHOPESX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:46:09 CET 2017

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