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SHOX (short stature homeobox)

Identity

Alias_symbol (synonym)PHOG
GCFX
SS
SHOXY
Other alias
HGNC (Hugo) SHOX
LocusID (NCBI) 6473
Atlas_Id 56020
Location Xp22.33  [Link to chromosome band Xp22]
Location_base_pair Starts at 624344 and ends at 646823 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)
NIFK (2q14.3) / SHOX (Xp22.33)

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)SHOX   10853
LRG (Locus Reference Genomic)LRG_710
Cards
Entrez_Gene (NCBI)SHOX  6473  short stature homeobox
AliasesGCFX; PHOG; SHOXY; SS
GeneCards (Weizmann)SHOX
Ensembl hg19 (Hinxton)ENSG00000185960 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185960 [Gene_View]  chrX:624344-646823 [Contig_View]  SHOX [Vega]
ICGC DataPortalENSG00000185960
TCGA cBioPortalSHOX
AceView (NCBI)SHOX
Genatlas (Paris)SHOX
WikiGenes6473
SOURCE (Princeton)SHOX
Genetics Home Reference (NIH)SHOX
Genomic and cartography
GoldenPath hg38 (UCSC)SHOX  -     chrX:624344-646823 +  Xp22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHOX  -     Xp22.33   [Description]    (hg19-Feb_2009)
EnsemblSHOX - Xp22.33 [CytoView hg19]  SHOX - Xp22.33 [CytoView hg38]
Mapping of homologs : NCBISHOX [Mapview hg19]  SHOX [Mapview hg38]
OMIM312865   400020   
Gene and transcription
Genbank (Entrez)BC141503 BC148783 U89331 Y11535 Y11536
RefSeq transcript (Entrez)NM_000451 NM_006883
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHOX
Cluster EST : UnigeneHs.105932 [ NCBI ]
CGAP (NCI)Hs.105932
Alternative Splicing GalleryENSG00000185960
Gene ExpressionSHOX [ NCBI-GEO ]   SHOX [ EBI - ARRAY_EXPRESS ]   SHOX [ SEEK ]   SHOX [ MEM ]
Gene Expression Viewer (FireBrowse)SHOX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6473
GTEX Portal (Tissue expression)SHOX
Human Protein AtlasENSG00000185960-SHOX [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15266   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15266  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15266
Splice isoforms : SwissVarO15266
PhosPhoSitePlusO15266
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    HTH_motif    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)SHOX
DMDM Disease mutations6473
Blocks (Seattle)SHOX
SuperfamilyO15266
Human Protein Atlas [tissue]ENSG00000185960-SHOX [tissue]
Peptide AtlasO15266
HPRD02430
IPIIPI00005744   IPI00411417   
Protein Interaction databases
DIP (DOE-UCLA)O15266
IntAct (EBI)O15266
FunCoupENSG00000185960
BioGRIDSHOX
STRING (EMBL)SHOX
ZODIACSHOX
Ontologies - Pathways
QuickGOO15266
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  skeletal system development  transcription factor activity, sequence-specific DNA binding  protein binding  nucleoplasm  transcription from RNA polymerase II promoter  intracellular membrane-bounded organelle  sequence-specific DNA binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  skeletal system development  transcription factor activity, sequence-specific DNA binding  protein binding  nucleoplasm  transcription from RNA polymerase II promoter  intracellular membrane-bounded organelle  sequence-specific DNA binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  
NDEx NetworkSHOX
Atlas of Cancer Signalling NetworkSHOX
Wikipedia pathwaysSHOX
Orthology - Evolution
OrthoDB6473
GeneTree (enSembl)ENSG00000185960
Phylogenetic Trees/Animal Genes : TreeFamSHOX
HOVERGENO15266
HOGENOMO15266
Homologs : HomoloGeneSHOX
Homology/Alignments : Family Browser (UCSC)SHOX
Gene fusions - Rearrangements
Tumor Fusion PortalSHOX
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHOX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHOX
dbVarSHOX
ClinVarSHOX
1000_GenomesSHOX 
Exome Variant ServerSHOX
ExAC (Exome Aggregation Consortium)ENSG00000185960
GNOMAD BrowserENSG00000185960
Genetic variants : HAPMAP6473
Genomic Variants (DGV)SHOX [DGVbeta]
DECIPHERSHOX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHOX 
Mutations
ICGC Data PortalSHOX 
TCGA Data PortalSHOX 
Broad Tumor PortalSHOX
OASIS PortalSHOX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHOX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHOX
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 SHOX
DgiDB (Drug Gene Interaction Database)SHOX
DoCM (Curated mutations)SHOX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHOX (select a term)
intoGenSHOX
Cancer3DSHOX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM312865    400020   
Orphanet1043    2409    21531   
DisGeNETSHOX
MedgenSHOX
Genetic Testing Registry SHOX
NextProtO15266 [Medical]
TSGene6473
GENETestsSHOX
Target ValidationSHOX
Huge Navigator SHOX [HugePedia]
snp3D : Map Gene to Disease6473
BioCentury BCIQSHOX
ClinGenSHOX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6473
Chemical/Pharm GKB GenePA134978644
Clinical trialSHOX
Miscellaneous
canSAR (ICR)SHOX (select the gene name)
Probes
Litterature
PubMed104 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHOX
EVEXSHOX
GoPubMedSHOX
iHOPSHOX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:34:34 CET 2017

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