Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HESX1 (HESX homeobox 1)

Identity

Other namesANF
CPHD5
RPX
HGNC (Hugo) HESX1
LocusID (NCBI) 8820
Location 3p14.3
Location_base_pair Starts at 57231944 and ends at 57234280 bp from pter ( according to hg19-Feb_2009)
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)HESX1   4877
Cards
Entrez_Gene (NCBI)HESX1  8820  HESX homeobox 1
GeneCards (Weizmann)HESX1
Ensembl hg19 (Hinxton) [Gene_View]  chr3:57231944-57234280 [Contig_View]  HESX1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr3:57231944-57234280 [Contig_View]  HESX1 [Vega]
cBioPortalHESX1
AceView (NCBI)HESX1
Genatlas (Paris)HESX1
WikiGenes8820
SOURCE (Princeton)HESX1
Genomic and cartography
GoldenPath hg19 (UCSC)HESX1  -     chr3:57231944-57234280 -  3p14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HESX1  -     3p14.3   [Description]    (hg38-Dec_2013)
EnsemblHESX1 - 3p14.3 [CytoView hg19]  HESX1 - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBIHESX1 [Mapview hg19]  HESX1 [Mapview hg38]
OMIM182230   601802   
Gene and transcription
Genbank (Entrez)AI652412 BC069515 BC093979 BC112089 EU446670
RefSeq transcript (Entrez)NM_003865
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_008242 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)HESX1
Cluster EST : UnigeneHs.171980 [ NCBI ]
CGAP (NCI)Hs.171980
Alternative Splicing : Fast-db (Paris)GSHG0021796
Gene ExpressionHESX1 [ NCBI-GEO ]     HESX1 [ SEEK ]   HESX1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBX0 (Uniprot)
NextProtQ9UBX0  [Medical]
With graphics : InterProQ9UBX0
Splice isoforms : SwissVarQ9UBX0 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like   
Related proteins : CluSTrQ9UBX0
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations8820
Blocks (Seattle)Q9UBX0
PDB (SRS)2K40   
PDB (PDBSum)2K40   
PDB (IMB)2K40   
PDB (RSDB)2K40   
Peptide AtlasQ9UBX0
HPRD03482
IPIIPI00002815   IPI00796112   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBX0
IntAct (EBI)Q9UBX0
BioGRIDHESX1
IntegromeDBHESX1
STRING (EMBL)HESX1
Ontologies - Pathways
QuickGOQ9UBX0
Ontology : AmiGODNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription, DNA-templated  brain development  protein C-terminus binding  otic vesicle formation  sequence-specific DNA binding  nose development  negative regulation of transcription, DNA-templated  protein N-terminus binding  forebrain morphogenesis  
Ontology : EGO-EBIDNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription, DNA-templated  brain development  protein C-terminus binding  otic vesicle formation  sequence-specific DNA binding  nose development  negative regulation of transcription, DNA-templated  protein N-terminus binding  forebrain morphogenesis  
Protein Interaction DatabaseHESX1
DoCM (Curated mutations)HESX1
Wikipedia pathwaysHESX1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHESX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HESX1
dbVarHESX1
ClinVarHESX1
1000_GenomesHESX1 
Exome Variant ServerHESX1
SNP (GeneSNP Utah)HESX1
SNP : HGBaseHESX1
Genetic variants : HAPMAPHESX1
Genomic VariantsHESX1  HESX1 [DGVbeta]
Mutations
Somatic Mutations in Cancer : COSMICHESX1 
CONAN: Copy Number AnalysisHESX1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:57231944-57234280
Mutations and Diseases : HGMDHESX1
OMIM182230    601802   
MedgenHESX1
NextProtQ9UBX0 [Medical]
GENETestsHESX1
Disease Genetic AssociationHESX1
Huge Navigator HESX1 [HugePedia]  HESX1 [HugeCancerGEM]
snp3D : Map Gene to Disease8820
DGIdb (Drug Gene Interaction db)HESX1
General knowledge
Homologs : HomoloGeneHESX1
Homology/Alignments : Family Browser (UCSC)HESX1
Phylogenetic Trees/Animal Genes : TreeFamHESX1
Chemical/Protein Interactions : CTD8820
Chemical/Pharm GKB GenePA29255
Clinical trialHESX1
Other databases
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
CoreMineHESX1
GoPubMedHESX1
iHOPHESX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:58:52 CET 2014

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