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SKIL (SKI-like proto-oncogene)

Identity

Other namesSNO
SnoA
SnoI
SnoN
HGNC (Hugo) SKIL
LocusID (NCBI) 6498
Atlas_Id 42304
Location 3q26.2
Location_base_pair Starts at 170077411 and ends at 170114637 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PID1 (2q36.3) / SKIL (3q26.2)PLCH1 (3q25.31) / SKIL (3q26.2)SKIL (3q26.2) / EHD2 (19q13.33)
SKIL (3q26.2) / GPR160 (3q26.2)SKIL (3q26.2) / MECOM (3q26.2)SKIL (3q26.2) / MYOF (10q23.33)
SSBP1 (7q34) / SKIL (3q26.2)PLCH1 3q25.31 / SKIL 3q26.2SKIL 3q26.2 / GPR160 3q26.2

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)SKIL   10897
Cards
Entrez_Gene (NCBI)SKIL  6498  SKI-like proto-oncogene
GeneCards (Weizmann)SKIL
Ensembl hg19 (Hinxton)ENSG00000136603 [Gene_View]  chr3:170077411-170114637 [Contig_View]  SKIL [Vega]
Ensembl hg38 (Hinxton)ENSG00000136603 [Gene_View]  chr3:170077411-170114637 [Contig_View]  SKIL [Vega]
ICGC DataPortalENSG00000136603
TCGA cBioPortalSKIL
AceView (NCBI)SKIL
Genatlas (Paris)SKIL
WikiGenes6498
SOURCE (Princeton)SKIL
Genomic and cartography
GoldenPath hg19 (UCSC)SKIL  -     chr3:170077411-170114637 +  3q26.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SKIL  -     3q26.2   [Description]    (hg38-Dec_2013)
EnsemblSKIL - 3q26.2 [CytoView hg19]  SKIL - 3q26.2 [CytoView hg38]
Mapping of homologs : NCBISKIL [Mapview hg19]  SKIL [Mapview hg38]
OMIM165340   
Gene and transcription
Genbank (Entrez)AA827643 AA827646 AI245308 AK300053 BC041913
RefSeq transcript (Entrez)NM_001145097 NM_001145098 NM_001248008 NM_005414
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_030357 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)SKIL
Cluster EST : UnigeneHs.581632 [ NCBI ]
CGAP (NCI)Hs.581632
Alternative Splicing : Fast-db (Paris)GSHG0021313
Alternative Splicing GalleryENSG00000136603
Gene ExpressionSKIL [ NCBI-GEO ]   SKIL [ EBI - ARRAY_EXPRESS ]   SKIL [ SEEK ]   SKIL [ MEM ]
Gene Expression Viewer (FireBrowse)SKIL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)6498
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12757 (Uniprot)
NextProtP12757  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12757
Splice isoforms : SwissVarP12757 (Swissvar)
PhosPhoSitePlusP12757
Domains : Interpro (EBI)c-SKI_SMAD4-bd_dom    DNA-bd_dom_put    SAND_dom-like    Ski-rel_Sno    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)  
DMDM Disease mutations6498
Blocks (Seattle)SKIL
PDB (SRS)3EQ5   
PDB (PDBSum)3EQ5   
PDB (IMB)3EQ5   
PDB (RSDB)3EQ5   
Structural Biology KnowledgeBase3EQ5   
SCOP (Structural Classification of Proteins)3EQ5   
CATH (Classification of proteins structures)3EQ5   
SuperfamilyP12757
Human Protein AtlasENSG00000136603
Peptide AtlasP12757
HPRD01319
IPIIPI00025468   IPI00216658   IPI00216661   IPI00867624   IPI00953209   IPI00945104   IPI00944941   
Protein Interaction databases
DIP (DOE-UCLA)P12757
IntAct (EBI)P12757
FunCoupENSG00000136603
BioGRIDSKIL
STRING (EMBL)SKIL
ZODIACSKIL
Ontologies - Pathways
QuickGOP12757
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  acrosomal vesicle  blastocyst formation  lymphocyte homeostasis  DNA binding  chromatin binding  chromatin binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cell cycle arrest  cell cycle arrest  transforming growth factor beta receptor signaling pathway  spermatogenesis  skeletal muscle tissue development  PML body  protein domain specific binding  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  protein complex binding  response to cytokine  regulation of apoptotic process  regulation of apoptotic process  protein complex  negative regulation of cell differentiation  negative regulation of cell differentiation  SMAD binding  SMAD binding  response to antibiotic  positive regulation of axonogenesis  positive regulation of axonogenesis  protein homotrimerization  protein heterotrimerization  lens fiber cell differentiation  response to growth factor  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  acrosomal vesicle  blastocyst formation  lymphocyte homeostasis  DNA binding  chromatin binding  chromatin binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cell cycle arrest  cell cycle arrest  transforming growth factor beta receptor signaling pathway  spermatogenesis  skeletal muscle tissue development  PML body  protein domain specific binding  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  protein complex binding  response to cytokine  regulation of apoptotic process  regulation of apoptotic process  protein complex  negative regulation of cell differentiation  negative regulation of cell differentiation  SMAD binding  SMAD binding  response to antibiotic  positive regulation of axonogenesis  positive regulation of axonogenesis  protein homotrimerization  protein heterotrimerization  lens fiber cell differentiation  response to growth factor  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage  
Pathways : BIOCARTATGF beta signaling pathway [Genes]   
NDEx Network
Atlas of Cancer Signalling NetworkSKIL
Wikipedia pathwaysSKIL
Orthology - Evolution
OrthoDB6498
GeneTree (enSembl)ENSG00000136603
Phylogenetic Trees/Animal Genes : TreeFamSKIL
Homologs : HomoloGeneSKIL
Homology/Alignments : Family Browser (UCSC)SKIL
Gene fusions - Rearrangements
Fusion: TCGAPLCH1 3q25.31 SKIL 3q26.2 BRCA
Fusion: TCGASKIL 3q26.2 GPR160 3q26.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSKIL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SKIL
dbVarSKIL
ClinVarSKIL
1000_GenomesSKIL 
Exome Variant ServerSKIL
ExAC (Exome Aggregation Consortium)SKIL (select the gene name)
SNP (GeneSNP Utah)SKIL
SNP : HGBaseSKIL
Genetic variants : HAPMAPSKIL
Genomic Variants (DGV)SKIL [DGVbeta]
Mutations
ICGC Data PortalSKIL 
TCGA Data PortalSKIL 
Broad Tumor PortalSKIL
OASIS PortalSKIL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSKIL 
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 SKIL
DgiDB (Drug Gene Interaction Database)SKIL
DoCM (Curated mutations)SKIL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SKIL (select a term)
intoGenSKIL
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:170077411-170114637
CONAN: Copy Number AnalysisSKIL 
Mutations and Diseases : HGMDSKIL
OMIM165340   
MedgenSKIL
Genetic Testing Registry SKIL
NextProtP12757 [Medical]
TSGene6498
GENETestsSKIL
Huge Navigator SKIL [HugePedia]  SKIL [HugeCancerGEM]
snp3D : Map Gene to Disease6498
BioCentury BCIQSKIL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6498
Chemical/Pharm GKB GenePA35797
Clinical trialSKIL
Miscellaneous
canSAR (ICR)SKIL (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSKIL
GoPubMedSKIL
iHOPSKIL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 18:04:14 CEST 2016

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