| | PRDM16 (1p36.32) / SKI (1p36.33) | SKI (1p36.33) / CA6 (1p36.23) | SKI (1p36.33) / CLK3 (15q24.1) |
| |
SKI (1p36.33) / KCNT2 (1q31.3) | SKI (1p36.33) / LDHA (11p15.1) | SKI (1p36.33) / PDF (16q22.1) |
| |
SKI (1p36.33) / PRKCZ (1p36.33) | SKI (1p36.33) / SKI (1p36.33) | SKI (1p36.33) / SSU72 (1p36.33) |
| |
SKI 1p36.33 / CA6 1p36.23 | SKI 1p36.33 / KCNT2 1q31.3 | SKI 1p36.33 / PRKCZ 1p36.33 |
| |
SKI 1p36.33 / SSU72 1p36.33 |
| Nomenclature |
|---|
| HGNC (Hugo) | SKI 10896 |
| Cards |
|---|
| Entrez_Gene (NCBI) | SKI 6497 SKI proto-oncogene |
| Aliases | SGS; SKV |
| GeneCards (Weizmann) | SKI |
| Ensembl hg19 (Hinxton) | ENSG00000157933 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000157933 [Gene_View] ENSG00000157933 [Sequence] chr1:2228695-2310213 [Contig_View] SKI [Vega] |
| ICGC DataPortal | ENSG00000157933 |
| TCGA cBioPortal | SKI |
| AceView (NCBI) | SKI |
| Genatlas (Paris) | SKI |
| WikiGenes | 6497 |
| SOURCE (Princeton) | SKI |
| Genetics Home Reference (NIH) | SKI |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SKI - chr1:2228695-2310213 + 1p36.33 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SKI - 1p36.33 [Description] (hg19-Feb_2009) |
| GoldenPath | SKI - 1p36.33 [CytoView hg19] SKI - 1p36.33 [CytoView hg38] |
| ImmunoBase | ENSG00000157933 |
| Mapping of homologs : NCBI | SKI [Mapview hg19] SKI [Mapview hg38] |
| OMIM | 164780 182212 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK309515 X15218 |
| RefSeq transcript (Entrez) | NM_003036 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SKI |
| Cluster EST : Unigene | Hs.656507 [ NCBI ] |
| CGAP (NCI) | Hs.656507 |
| Alternative Splicing Gallery | ENSG00000157933 |
| Gene Expression | SKI [ NCBI-GEO ] SKI [ EBI - ARRAY_EXPRESS ]
SKI [ SEEK ] SKI [ MEM ] |
| Gene Expression Viewer (FireBrowse) | SKI [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6497 |
| GTEX Portal (Tissue expression) | SKI |
| Human Protein Atlas | ENSG00000157933-SKI [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P12755 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P12755 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P12755 |
| Splice isoforms : SwissVar | P12755 |
| PhosPhoSitePlus | P12755 |
| Domains : Interpro (EBI) | c-SKI_SMAD4-bd_dom DNA-bd_dom_put_sf SAND-like_dom_sf Ski SKI/SNO/DAC Ski_DNA-bd_sf Tscrpt_reg_SKI_SnoN |
| Domain families : Pfam (Sanger) | c-SKI_SMAD_bind (PF08782) Ski_Sno (PF02437) |
| Domain families : Pfam (NCBI) | pfam08782 pfam02437 |
| Domain families : Smart (EMBL) | c-SKI_SMAD_bind (SM01046) |
| Conserved Domain (NCBI) | SKI |
| DMDM Disease mutations | 6497 |
| Blocks (Seattle) | SKI |
| PDB (RSDB) | 1MR1 1SBX |
| PDB Europe | 1MR1 1SBX |
| PDB (PDBSum) | 1MR1 1SBX |
| PDB (IMB) | 1MR1 1SBX |
| Structural Biology KnowledgeBase | 1MR1 1SBX |
| SCOP (Structural Classification of Proteins) | 1MR1 1SBX |
| CATH (Classification of proteins structures) | 1MR1 1SBX |
| Superfamily | P12755 |
| Human Protein Atlas [tissue] | ENSG00000157933-SKI [tissue] |
| Peptide Atlas | P12755 |
| HPRD | 01271 |
| IPI | IPI00220921 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P12755 |
| IntAct (EBI) | P12755 |
| FunCoup | ENSG00000157933 |
| BioGRID | SKI |
| STRING (EMBL) | SKI |
| ZODIAC | SKI |
| Ontologies - Pathways |
|---|
| QuickGO | P12755 |
| Ontology : AmiGO | negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific neural tube closure lens morphogenesis in camera-type eye transcription corepressor activity transcription corepressor activity protein binding nucleus nucleoplasm nucleoplasm transcription factor complex cytoplasm centrosome transcription, DNA-templated transforming growth factor beta receptor signaling pathway zinc ion binding negative regulation of cell proliferation anterior/posterior axis specification negative regulation of Schwann cell proliferation myotube differentiation nuclear body PML body transcriptional repressor complex protein kinase binding protein domain specific binding olfactory bulb development myelination in peripheral nervous system positive regulation of Wnt signaling pathway embryonic limb morphogenesis BMP signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of histone deacetylation ubiquitin protein ligase binding negative regulation of activin receptor signaling pathway protein-containing complex somatic stem cell population maintenance camera-type eye development positive regulation of DNA binding nose morphogenesis negative regulation of cell differentiation negative regulation of osteoblast differentiation positive regulation of transcription by RNA polymerase II SMAD binding SMAD binding histone deacetylase inhibitor activity negative regulation of fibroblast proliferation camera-type eye morphogenesis neuron development skeletal muscle fiber development cell motility roof of mouth development retina development in camera-type eye face morphogenesis bone morphogenesis SMAD protein signal transduction protein homotrimerization repressing transcription factor binding |
| Ontology : EGO-EBI | negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific neural tube closure lens morphogenesis in camera-type eye transcription corepressor activity transcription corepressor activity protein binding nucleus nucleoplasm nucleoplasm transcription factor complex cytoplasm centrosome transcription, DNA-templated transforming growth factor beta receptor signaling pathway zinc ion binding negative regulation of cell proliferation anterior/posterior axis specification negative regulation of Schwann cell proliferation myotube differentiation nuclear body PML body transcriptional repressor complex protein kinase binding protein domain specific binding olfactory bulb development myelination in peripheral nervous system positive regulation of Wnt signaling pathway embryonic limb morphogenesis BMP signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of histone deacetylation ubiquitin protein ligase binding negative regulation of activin receptor signaling pathway protein-containing complex somatic stem cell population maintenance camera-type eye development positive regulation of DNA binding nose morphogenesis negative regulation of cell differentiation negative regulation of osteoblast differentiation positive regulation of transcription by RNA polymerase II SMAD binding SMAD binding histone deacetylase inhibitor activity negative regulation of fibroblast proliferation camera-type eye morphogenesis neuron development skeletal muscle fiber development cell motility roof of mouth development retina development in camera-type eye face morphogenesis bone morphogenesis SMAD protein signal transduction protein homotrimerization repressing transcription factor binding |
| NDEx Network | SKI |
| Atlas of Cancer Signalling Network | SKI |
| Wikipedia pathways | SKI |
| Orthology - Evolution |
|---|
| OrthoDB | 6497 |
| GeneTree (enSembl) | ENSG00000157933 |
| Phylogenetic Trees/Animal Genes : TreeFam | SKI |
| HOGENOM | P12755 |
| Homologs : HomoloGene | SKI |
| Homology/Alignments : Family Browser (UCSC) | SKI |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | PRDM16/SKI [1p36.32/1p36.33] [t(1;1)(p36;p36)] |
| Fusion : Mitelman | SKI/CA6 [1p36.33/1p36.23] [t(1;1)(p36;p36)] |
| Fusion : Mitelman | SKI/KCNT2 [1p36.33/1q31.3] [t(1;1)(p36;q31)] |
| Fusion : Mitelman | SKI/PRKCZ [1p36.33/1p36.33] [t(1;1)(p36;p36)] |
| Fusion : Mitelman | SKI/SSU72 [1p36.33/1p36.33] [t(1;1)(p36;p36)] |
| Fusion Portal | SKI 1p36.33 CA6 1p36.23 SKCM |
| Fusion Portal | SKI 1p36.33 KCNT2 1q31.3 BRCA |
| Fusion Portal | SKI 1p36.33 PRKCZ 1p36.33 BRCA |
| Fusion Portal | SKI 1p36.33 SSU72 1p36.33 GBM |
| Fusion : Quiver | SKI |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SKI [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SKI |
| dbVar | SKI |
| ClinVar | SKI |
| 1000_Genomes | SKI |
| Exome Variant Server | SKI |
| ExAC (Exome Aggregation Consortium) | ENSG00000157933 |
| GNOMAD Browser | ENSG00000157933 |
| Varsome Browser | SKI |
| Genetic variants : HAPMAP | 6497 |
| Genomic Variants (DGV) | SKI [DGVbeta] |
| DECIPHER | SKI [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SKI |
| Mutations |
|---|
| ICGC Data Portal | SKI |
| TCGA Data Portal | SKI |
| Broad Tumor Portal | SKI |
| OASIS Portal | SKI [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SKI [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | SKI |
| Mutations and Diseases : HGMD | SKI |
| 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 SKI |
| DgiDB (Drug Gene Interaction Database) | SKI |
| DoCM (Curated mutations) | SKI (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | SKI (select a term) |
| intoGen | SKI |
| Cancer3D | SKI(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 164780 182212 |
| Orphanet | 1738 2275 |
| DisGeNET | SKI |
| Medgen | SKI |
| Genetic Testing Registry | SKI
|
| NextProt | P12755 [Medical] |
| TSGene | 6497 |
| GENETests | SKI |
| Target Validation | SKI |
| Huge Navigator |
SKI [HugePedia] |
| snp3D : Map Gene to Disease | 6497 |
| BioCentury BCIQ | SKI |
| ClinGen | SKI (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6497 |
| Chemical/Pharm GKB Gene | PA35796 |
| Clinical trial | SKI |
| Miscellaneous |
|---|
| canSAR (ICR) | SKI (select the gene name) |
| DataMed Index | SKI |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 134 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SKI |
| EVEX | SKI |
| GoPubMed | SKI |
| iHOP | SKI |
