Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SOX6 (SRY-box 6)

Identity

Alias_namesSRY (sex determining region Y)-box 6
SRY box 6
Other aliasHSSOX6
SOXD
HGNC (Hugo) SOX6
LocusID (NCBI) 55553
Atlas_Id 46348
Location 11p15.2  [Link to chromosome band 11p15]
Location_base_pair Starts at 15966449 and ends at 16408884 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SOX6 (11p15.2) / BCYRN1 (Xq13.1)SOX6 (11p15.2) / DDOST (1p36.12)SOX6 (11p15.2) / DGKH (13q14.11)
SOX6 (11p15.2) / GALNT18 (11p15.3)SOX6 (11p15.2) / HTRA1 (10q26.13)SOX6 (11p15.2) / PTPRJ (11p11.2)
SOX6 (11p15.2) / SOX6 (11p15.2)SOX6 11p15.2 GALNTL4SOX6 11p15.2 / PTPRJ 11p11.2

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)SOX6   16421
Cards
Entrez_Gene (NCBI)SOX6  55553  SRY-box 6
AliasesHSSOX6; SOXD
GeneCards (Weizmann)SOX6
Ensembl hg19 (Hinxton)ENSG00000110693 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110693 [Gene_View]  chr11:15966449-16408884 [Contig_View]  SOX6 [Vega]
ICGC DataPortalENSG00000110693
TCGA cBioPortalSOX6
AceView (NCBI)SOX6
Genatlas (Paris)SOX6
WikiGenes55553
SOURCE (Princeton)SOX6
Genetics Home Reference (NIH)SOX6
Genomic and cartography
GoldenPath hg38 (UCSC)SOX6  -     chr11:15966449-16408884 -  11p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX6  -     11p15.2   [Description]    (hg19-Feb_2009)
EnsemblSOX6 - 11p15.2 [CytoView hg19]  SOX6 - 11p15.2 [CytoView hg38]
Mapping of homologs : NCBISOX6 [Mapview hg19]  SOX6 [Mapview hg38]
OMIM607257   
Gene and transcription
Genbank (Entrez)AF309034 AK021785 AK097455 AK310506 AL136780
RefSeq transcript (Entrez)NM_001145811 NM_001145819 NM_017508 NM_033326
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOX6
Cluster EST : UnigeneHs.368226 [ NCBI ]
CGAP (NCI)Hs.368226
Alternative Splicing GalleryENSG00000110693
Gene ExpressionSOX6 [ NCBI-GEO ]   SOX6 [ EBI - ARRAY_EXPRESS ]   SOX6 [ SEEK ]   SOX6 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55553
GTEX Portal (Tissue expression)SOX6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35712   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35712  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35712
Splice isoforms : SwissVarP35712
PhosPhoSitePlusP35712
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    SOX-6   
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX6
DMDM Disease mutations55553
Blocks (Seattle)SOX6
SuperfamilyP35712
Human Protein AtlasENSG00000110693
Peptide AtlasP35712
HPRD06267
IPIIPI00872738   IPI00218631   IPI00926649   IPI00641980   IPI00981950   IPI00984293   IPI00981612   IPI00984623   
Protein Interaction databases
DIP (DOE-UCLA)P35712
IntAct (EBI)P35712
FunCoupENSG00000110693
BioGRIDSOX6
STRING (EMBL)SOX6
ZODIACSOX6
Ontologies - Pathways
QuickGOP35712
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  cell morphogenesis  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  in utero embryonic development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  muscle organ development  post-embryonic development  gene silencing  oligodendrocyte cell fate specification  positive regulation of chondrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  astrocyte differentiation  erythrocyte development  cartilage development  cardiac muscle cell differentiation  positive regulation of cartilage development  cellular response to transforming growth factor beta stimulus  negative regulation of cardiac muscle cell differentiation  positive regulation of mesenchymal stem cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  cell morphogenesis  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  in utero embryonic development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  muscle organ development  post-embryonic development  gene silencing  oligodendrocyte cell fate specification  positive regulation of chondrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  astrocyte differentiation  erythrocyte development  cartilage development  cardiac muscle cell differentiation  positive regulation of cartilage development  cellular response to transforming growth factor beta stimulus  negative regulation of cardiac muscle cell differentiation  positive regulation of mesenchymal stem cell differentiation  
NDEx NetworkSOX6
Atlas of Cancer Signalling NetworkSOX6
Wikipedia pathwaysSOX6
Orthology - Evolution
OrthoDB55553
GeneTree (enSembl)ENSG00000110693
Phylogenetic Trees/Animal Genes : TreeFamSOX6
HOVERGENP35712
HOGENOMP35712
Homologs : HomoloGeneSOX6
Homology/Alignments : Family Browser (UCSC)SOX6
Gene fusions - Rearrangements
Fusion : MitelmanSOX6/GALNT18 [11p15.2/11p15.3]  
Fusion : MitelmanSOX6/PTPRJ [11p15.2/11p11.2]  [t(11;11)(p11;p15)]  
Fusion: TCGASOX6 11p15.2 GALNTL4 BRCA
Fusion: TCGASOX6 11p15.2 PTPRJ 11p11.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX6
dbVarSOX6
ClinVarSOX6
1000_GenomesSOX6 
Exome Variant ServerSOX6
ExAC (Exome Aggregation Consortium)SOX6 (select the gene name)
Genetic variants : HAPMAP55553
Genomic Variants (DGV)SOX6 [DGVbeta]
DECIPHERSOX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOX6 
Mutations
ICGC Data PortalSOX6 
TCGA Data PortalSOX6 
Broad Tumor PortalSOX6
OASIS PortalSOX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOX6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX6
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 SOX6
DgiDB (Drug Gene Interaction Database)SOX6
DoCM (Curated mutations)SOX6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX6 (select a term)
intoGenSOX6
Cancer3DSOX6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607257   
Orphanet
MedgenSOX6
Genetic Testing Registry SOX6
NextProtP35712 [Medical]
TSGene55553
GENETestsSOX6
Target ValidationSOX6
Huge Navigator SOX6 [HugePedia]
snp3D : Map Gene to Disease55553
BioCentury BCIQSOX6
ClinGenSOX6 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55553
Chemical/Pharm GKB GenePA38137
Clinical trialSOX6
Miscellaneous
canSAR (ICR)SOX6 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX6
EVEXSOX6
GoPubMedSOX6
iHOPSOX6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:32:32 CEST 2017

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