Fusion genes
(updated 2016) | SOX6 (11p15.2) / BCYRN1 (Xq13.1) | SOX6 (11p15.2) / DDOST (1p36.12) | SOX6 (11p15.2) / DGKH (13q14.11) |
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SOX6 (11p15.2) / GALNT18 (11p15.3) | SOX6 (11p15.2) / HTRA1 (10q26.13) | SOX6 (11p15.2) / PTPRJ (11p11.2) |
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SOX6 (11p15.2) / SOX6 (11p15.2) | SOX6 11p15.2 GALNTL4 | SOX6 11p15.2 / PTPRJ 11p11.2 |
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| Nomenclature |
|---|
| HGNC (Hugo) | SOX6 16421 |
| Cards |
|---|
| Entrez_Gene (NCBI) | SOX6 55553 SRY-box 6 |
| Aliases | HSSOX6; SOXD |
| GeneCards (Weizmann) | SOX6 |
| Ensembl hg19 (Hinxton) | ENSG00000110693 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000110693 [Gene_View] chr11:15966449-16408884 [Contig_View] SOX6 [Vega] |
| ICGC DataPortal | ENSG00000110693 |
| TCGA cBioPortal | SOX6 |
| AceView (NCBI) | SOX6 |
| Genatlas (Paris) | SOX6 |
| WikiGenes | 55553 |
| 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) |
| Ensembl | SOX6 - 11p15.2 [CytoView hg19] SOX6 - 11p15.2 [CytoView hg38] |
| Mapping of homologs : NCBI | SOX6 [Mapview hg19] SOX6 [Mapview hg38] |
| OMIM | 607257 |
| 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 : Unigene | Hs.368226 [ NCBI ] |
| CGAP (NCI) | Hs.368226 |
| Alternative Splicing Gallery | ENSG00000110693 |
| Gene Expression | SOX6 [ 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] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 55553 |
| GTEX Portal (Tissue expression) | SOX6 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P35712 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P35712 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P35712 |
| Splice isoforms : SwissVar | P35712 |
| PhosPhoSitePlus | P35712 |
| 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 mutations | 55553 |
| Blocks (Seattle) | SOX6 |
| Superfamily | P35712 |
| Human Protein Atlas | ENSG00000110693 |
| Peptide Atlas | P35712 |
| HPRD | 06267 |
| IPI | IPI00872738 IPI00218631 IPI00926649 IPI00641980 IPI00981950 IPI00984293 IPI00981612 IPI00984623 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P35712 |
| IntAct (EBI) | P35712 |
| FunCoup | ENSG00000110693 |
| BioGRID | SOX6 |
| STRING (EMBL) | SOX6 |
| ZODIAC | SOX6 |
| Ontologies - Pathways |
|---|
| QuickGO | P35712 |
| Ontology : AmiGO | negative 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-EBI | negative 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 Network | SOX6 |
| Atlas of Cancer Signalling Network | SOX6 |
| Wikipedia pathways | SOX6 |
| Orthology - Evolution |
|---|
| OrthoDB | 55553 |
| GeneTree (enSembl) | ENSG00000110693 |
| Phylogenetic Trees/Animal Genes : TreeFam | SOX6 |
| HOVERGEN | P35712 |
| HOGENOM | P35712 |
| Homologs : HomoloGene | SOX6 |
| Homology/Alignments : Family Browser (UCSC) | SOX6 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | SOX6/GALNT18 [11p15.2/11p15.3] |
| Fusion : Mitelman | SOX6/PTPRJ [11p15.2/11p11.2] [t(11;11)(p11;p15)] |
| Fusion: TCGA | SOX6 11p15.2 GALNTL4 BRCA |
| Fusion: TCGA | SOX6 11p15.2 PTPRJ 11p11.2 LGG |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SOX6 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SOX6 |
| dbVar | SOX6 |
| ClinVar | SOX6 |
| 1000_Genomes | SOX6 |
| Exome Variant Server | SOX6 |
| ExAC (Exome Aggregation Consortium) | SOX6 (select the gene name) |
| Genetic variants : HAPMAP | 55553 |
| Genomic Variants (DGV) | SOX6 [DGVbeta] |
| DECIPHER | SOX6 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SOX6 |
| Mutations |
|---|
| ICGC Data Portal | SOX6 |
| TCGA Data Portal | SOX6 |
| Broad Tumor Portal | SOX6 |
| OASIS Portal | SOX6 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SOX6 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SOX6 |
| 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 |
| BioMuta | search 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) |
| intoGen | SOX6 |
| Cancer3D | SOX6(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 607257 |
| Orphanet | |
| Medgen | SOX6 |
| Genetic Testing Registry | SOX6
|
| NextProt | P35712 [Medical] |
| TSGene | 55553 |
| GENETests | SOX6 |
| Target Validation | SOX6 |
| Huge Navigator |
SOX6 [HugePedia] |
| snp3D : Map Gene to Disease | 55553 |
| BioCentury BCIQ | SOX6 |
| ClinGen | SOX6 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 55553 |
| Chemical/Pharm GKB Gene | PA38137 |
| Clinical trial | SOX6 |
| Miscellaneous |
|---|
| canSAR (ICR) | SOX6 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 61 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SOX6 |
| EVEX | SOX6 |
| GoPubMed | SOX6 |
| iHOP | SOX6 |
