Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SKI (SKI proto-oncogene)

Identity

Alias_namesv-ski avian sarcoma viral oncogene homolog
Other aliasSGS
SKV
HGNC (Hugo) SKI
LocusID (NCBI) 6497
Atlas_Id 42303
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 2228695 and ends at 2310213 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)
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 1p36.23SKI 1p36.33 / KCNT2 1q31.3SKI 1p36.33 / PRKCZ 1p36.33
SKI 1p36.33 / SSU72 1p36.33

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p36;p36) PRDM16/SKI
t(1;17)(p36;q25) METRNL/SKI

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(1;1)(p36;p36) SKI/SSU72
t(1;1)(p36;p36) SKI/PRKCZ
t(1;1)(p36;p36) SKI/CA6
t(1;1)(p36;p36) PRKCZ/SKI
t(1;1)(p36;q31) SKI/KCNT2

External links

Nomenclature
HGNC (Hugo)SKI   10896
Cards
Entrez_Gene (NCBI)SKI  6497  SKI proto-oncogene
AliasesSGS; SKV
GeneCards (Weizmann)SKI
Ensembl hg19 (Hinxton)ENSG00000157933 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157933 [Gene_View]  chr1:2228695-2310213 [Contig_View]  SKI [Vega]
ICGC DataPortalENSG00000157933
TCGA cBioPortalSKI
AceView (NCBI)SKI
Genatlas (Paris)SKI
WikiGenes6497
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)
EnsemblSKI - 1p36.33 [CytoView hg19]  SKI - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBISKI [Mapview hg19]  SKI [Mapview hg38]
OMIM164780   182212   
Gene and transcription
Genbank (Entrez)AK309515 X15218
RefSeq transcript (Entrez)NM_003036
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SKI
Cluster EST : UnigeneHs.656507 [ NCBI ]
CGAP (NCI)Hs.656507
Alternative Splicing GalleryENSG00000157933
Gene ExpressionSKI [ 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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6497
GTEX Portal (Tissue expression)SKI
Human Protein AtlasENSG00000157933-SKI [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12755   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12755  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12755
Splice isoforms : SwissVarP12755
PhosPhoSitePlusP12755
Domains : Interpro (EBI)c-SKI_SMAD4-bd_dom    DNA-bd_dom_put    SAND_dom-like    Ski    Transform_Ski    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 mutations6497
Blocks (Seattle)SKI
PDB (SRS)1MR1    1SBX   
PDB (PDBSum)1MR1    1SBX   
PDB (IMB)1MR1    1SBX   
PDB (RSDB)1MR1    1SBX   
Structural Biology KnowledgeBase1MR1    1SBX   
SCOP (Structural Classification of Proteins)1MR1    1SBX   
CATH (Classification of proteins structures)1MR1    1SBX   
SuperfamilyP12755
Human Protein Atlas [tissue]ENSG00000157933-SKI [tissue]
Peptide AtlasP12755
HPRD01271
IPIIPI00220921   
Protein Interaction databases
DIP (DOE-UCLA)P12755
IntAct (EBI)P12755
FunCoupENSG00000157933
BioGRIDSKI
STRING (EMBL)SKI
ZODIACSKI
Ontologies - Pathways
QuickGOP12755
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  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  cell proliferation  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 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  somatic stem cell population maintenance  camera-type eye development  protein complex  positive regulation of DNA binding  nose morphogenesis  negative regulation of osteoblast differentiation  positive regulation of transcription by RNA polymerase II  SMAD binding  histone deacetylase inhibitor activity  negative regulation of fibroblast proliferation  camera-type eye morphogenesis  neuron development  skeletal muscle fiber development  cell motility  palate development  retina development in camera-type eye  face morphogenesis  bone morphogenesis  SMAD protein signal transduction  protein homotrimerization  repressing transcription factor binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  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  cell proliferation  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 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  somatic stem cell population maintenance  camera-type eye development  protein complex  positive regulation of DNA binding  nose morphogenesis  negative regulation of osteoblast differentiation  positive regulation of transcription by RNA polymerase II  SMAD binding  histone deacetylase inhibitor activity  negative regulation of fibroblast proliferation  camera-type eye morphogenesis  neuron development  skeletal muscle fiber development  cell motility  palate development  retina development in camera-type eye  face morphogenesis  bone morphogenesis  SMAD protein signal transduction  protein homotrimerization  repressing transcription factor binding  
NDEx NetworkSKI
Atlas of Cancer Signalling NetworkSKI
Wikipedia pathwaysSKI
Orthology - Evolution
OrthoDB6497
GeneTree (enSembl)ENSG00000157933
Phylogenetic Trees/Animal Genes : TreeFamSKI
HOVERGENP12755
HOGENOMP12755
Homologs : HomoloGeneSKI
Homology/Alignments : Family Browser (UCSC)SKI
Gene fusions - Rearrangements
Fusion : MitelmanPRDM16/SKI [1p36.32/1p36.33]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSKI/CA6 [1p36.33/1p36.23]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSKI/KCNT2 [1p36.33/1q31.3]  [t(1;1)(p36;q31)]  
Fusion : MitelmanSKI/PRKCZ [1p36.33/1p36.33]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSKI/SSU72 [1p36.33/1p36.33]  [t(1;1)(p36;p36)]  
Fusion: TCGA_MDACCSKI 1p36.33 CA6 1p36.23 SKCM
Fusion: TCGA_MDACCSKI 1p36.33 KCNT2 1q31.3 BRCA
Fusion: TCGA_MDACCSKI 1p36.33 PRKCZ 1p36.33 BRCA
Fusion: TCGA_MDACCSKI 1p36.33 SSU72 1p36.33 GBM
Fusion PortalSKI 1p36.33 CA6 1p36.23 SKCM
Fusion PortalSKI 1p36.33 KCNT2 1q31.3 BRCA
Fusion PortalSKI 1p36.33 PRKCZ 1p36.33 BRCA
Fusion PortalSKI 1p36.33 SSU72 1p36.33 GBM
Fusion : QuiverSKI
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSKI [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SKI
dbVarSKI
ClinVarSKI
1000_GenomesSKI 
Exome Variant ServerSKI
ExAC (Exome Aggregation Consortium)ENSG00000157933
GNOMAD BrowserENSG00000157933
Genetic variants : HAPMAP6497
Genomic Variants (DGV)SKI [DGVbeta]
DECIPHERSKI [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSKI 
Mutations
ICGC Data PortalSKI 
TCGA Data PortalSKI 
Broad Tumor PortalSKI
OASIS PortalSKI [ Somatic mutations - Copy number]
Cancer Gene: CensusSKI 
Somatic Mutations in Cancer : COSMICSKI  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSKI
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 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)
intoGenSKI
Cancer3DSKI(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164780    182212   
Orphanet1738    2275   
DisGeNETSKI
MedgenSKI
Genetic Testing Registry SKI
NextProtP12755 [Medical]
TSGene6497
GENETestsSKI
Target ValidationSKI
Huge Navigator SKI [HugePedia]
snp3D : Map Gene to Disease6497
BioCentury BCIQSKI
ClinGenSKI (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6497
Chemical/Pharm GKB GenePA35796
Clinical trialSKI
Miscellaneous
canSAR (ICR)SKI (select the gene name)
Probes
Litterature
PubMed121 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSKI
EVEXSKI
GoPubMedSKI
iHOPSKI
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:37:31 CET 2018
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