Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SKI (SKI proto-oncogene)

Identity

Other namesSGS
SKV
HGNC (Hugo) SKI
LocusID (NCBI) 6497
Location 1p36.33
Location_base_pair Starts at 2160134 and ends at 2241652 bp from pter ( according to hg19-Feb_2009)
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)SKI   10896
Cards
Entrez_Gene (NCBI)SKI  6497  SKI proto-oncogene
GeneCards (Weizmann)SKI
Ensembl hg19 (Hinxton)ENSG00000157933 [Gene_View]  chr1:2160134-2241652 [Contig_View]  SKI [Vega]
Ensembl hg38 (Hinxton)ENSG00000157933 [Gene_View]  chr1:2160134-2241652 [Contig_View]  SKI [Vega]
ICGC DataPortalENSG00000157933
cBioPortalSKI
AceView (NCBI)SKI
Genatlas (Paris)SKI
WikiGenes6497
SOURCE (Princeton)SKI
Genomic and cartography
GoldenPath hg19 (UCSC)SKI  -     chr1:2160134-2241652 +  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SKI  -     1p36.33   [Description]    (hg38-Dec_2013)
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 BC156044 BC157082 X15218
RefSeq transcript (Entrez)NM_003036
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_013084 NT_032977 NW_001838585 NW_004929288
Consensus coding sequences : CCDS (NCBI)SKI
Cluster EST : UnigeneHs.656507 [ NCBI ]
CGAP (NCI)Hs.656507
Alternative Splicing : Fast-db (Paris)GSHG0000049
Alternative Splicing GalleryENSG00000157933
Gene ExpressionSKI [ NCBI-GEO ]     SKI [ SEEK ]   SKI [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12755 (Uniprot)
NextProtP12755  [Medical]
With graphics : InterProP12755
Splice isoforms : SwissVarP12755 (Swissvar)
Domains : Interpro (EBI)c-SKI_SMAD4-bd_dom    DNA-bd_dom_put    SAND_dom-like    Ski    Transform_Ski    Tscrpt_reg_SKI_SnoN   
Related proteins : CluSTrP12755
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)  
DMDM Disease mutations6497
Blocks (Seattle)P12755
PDB (SRS)1MR1    1SBX   
PDB (PDBSum)1MR1    1SBX   
PDB (IMB)1MR1    1SBX   
PDB (RSDB)1MR1    1SBX   
Human Protein AtlasENSG00000157933
Peptide AtlasP12755
HPRD01271
IPIIPI00220921   
Protein Interaction databases
DIP (DOE-UCLA)P12755
IntAct (EBI)P12755
FunCoupENSG00000157933
BioGRIDSKI
IntegromeDBSKI
STRING (EMBL)SKI
Ontologies - Pathways
QuickGOP12755
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  neural tube closure  lens morphogenesis in camera-type eye  chromatin binding  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  centrosome  transcription, DNA-templated  transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  zinc ion binding  cell proliferation  negative regulation of cell proliferation  anterior/posterior axis specification  gene expression  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 maintenance  regulation of apoptotic process  regulation of apoptotic process  camera-type eye development  protein complex  positive regulation of DNA binding  nose morphogenesis  negative regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  histone deacetylase inhibitor activity  negative regulation of fibroblast proliferation  camera-type eye morphogenesis  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 from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  neural tube closure  lens morphogenesis in camera-type eye  chromatin binding  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  centrosome  transcription, DNA-templated  transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  zinc ion binding  cell proliferation  negative regulation of cell proliferation  anterior/posterior axis specification  gene expression  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 maintenance  regulation of apoptotic process  regulation of apoptotic process  camera-type eye development  protein complex  positive regulation of DNA binding  nose morphogenesis  negative regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  histone deacetylase inhibitor activity  negative regulation of fibroblast proliferation  camera-type eye morphogenesis  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  
Protein Interaction DatabaseSKI
DoCM (Curated mutations)SKI
Wikipedia pathwaysSKI
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSKI [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SKI
dbVarSKI
ClinVarSKI
1000_GenomesSKI 
Exome Variant ServerSKI
SNP (GeneSNP Utah)SKI
SNP : HGBaseSKI
Genetic variants : HAPMAPSKI
Genomic VariantsSKI  SKI [DGVbeta]
Mutations
ICGC Data PortalENSG00000157933 
Somatic Mutations in Cancer : COSMICSKI 
CONAN: Copy Number AnalysisSKI 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:2160134-2241652
Mutations and Diseases : HGMDSKI
OMIM164780    182212   
MedgenSKI
NextProtP12755 [Medical]
GENETestsSKI
Disease Genetic AssociationSKI
Huge Navigator SKI [HugePedia]  SKI [HugeCancerGEM]
snp3D : Map Gene to Disease6497
DGIdb (Drug Gene Interaction db)SKI
General knowledge
Homologs : HomoloGeneSKI
Homology/Alignments : Family Browser (UCSC)SKI
Phylogenetic Trees/Animal Genes : TreeFamSKI
Chemical/Protein Interactions : CTD6497
Chemical/Pharm GKB GenePA35796
Clinical trialSKI
Cancer Resource (Charite)ENSG00000157933
Other databases
Probes
Litterature
PubMed104 Pubmed reference(s) in Entrez
CoreMineSKI
GoPubMedSKI
iHOPSKI
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:25:50 CET 2014
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