Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SKIL (SKI like proto-oncogene)

Identity

Alias (NCBI)SNO
SnoA
SnoI
SnoN
HGNC (Hugo) SKIL
HGNC Alias symbSNO
SnoN
SnoA
HGNC Previous nameSKI-like oncogene
LocusID (NCBI) 6498
Atlas_Id 42304
Location 3q26.2  [Link to chromosome band 3q26]
Location_base_pair Starts at 170357715 and ends at 170396834 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)
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

 

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

External links

Nomenclature
HGNC (Hugo)SKIL   10897
Cards
Entrez_Gene (NCBI)SKIL    SKI like proto-oncogene
AliasesSNO; SnoA; SnoI; SnoN
GeneCards (Weizmann)SKIL
Ensembl hg19 (Hinxton)ENSG00000136603 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136603 [Gene_View]  ENSG00000136603 [Sequence]  chr3:170357715-170396834 [Contig_View]  SKIL [Vega]
ICGC DataPortalENSG00000136603
TCGA cBioPortalSKIL
AceView (NCBI)SKIL
Genatlas (Paris)SKIL
SOURCE (Princeton)SKIL
Genetics Home Reference (NIH)SKIL
Genomic and cartography
GoldenPath hg38 (UCSC)SKIL  -     chr3:170357715-170396834 +  3q26.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SKIL  -     3q26.2   [Description]    (hg19-Feb_2009)
GoldenPathSKIL - 3q26.2 [CytoView hg19]  SKIL - 3q26.2 [CytoView hg38]
ImmunoBaseENSG00000136603
genome Data Viewer NCBISKIL [Mapview hg19]  
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)
Consensus coding sequences : CCDS (NCBI)SKIL
Alternative Splicing GalleryENSG00000136603
Gene ExpressionSKIL [ NCBI-GEO ]   SKIL [ EBI - ARRAY_EXPRESS ]   SKIL [ SEEK ]   SKIL [ MEM ]
Gene Expression Viewer (FireBrowse)SKIL [ Firebrowse - Broad ]
GenevisibleExpression of SKIL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6498
GTEX Portal (Tissue expression)SKIL
Human Protein AtlasENSG00000136603-SKIL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12757   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12757  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12757
Splice isoforms : SwissVarP12757
PhosPhoSitePlusP12757
Domains : Interpro (EBI)c-SKI_SMAD4-bd_dom    DNA-bd_dom_put_sf    SAND-like_dom_sf    Ski-rel_Sno    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)SKIL
Blocks (Seattle)SKIL
PDB (RSDB)3EQ5    5C4V   
PDB Europe3EQ5    5C4V   
PDB (PDBSum)3EQ5    5C4V   
PDB (IMB)3EQ5    5C4V   
Structural Biology KnowledgeBase3EQ5    5C4V   
SCOP (Structural Classification of Proteins)3EQ5    5C4V   
CATH (Classification of proteins structures)3EQ5    5C4V   
SuperfamilyP12757
Human Protein Atlas [tissue]ENSG00000136603-SKIL [tissue]
Peptide AtlasP12757
HPRD01319
IPIIPI00025468   IPI00216658   IPI00216661   IPI00867624   IPI00953209   IPI00945104   IPI00944941   
Protein Interaction databases
DIP (DOE-UCLA)P12757
IntAct (EBI)P12757
BioGRIDSKIL
STRING (EMBL)SKIL
ZODIACSKIL
Ontologies - Pathways
QuickGOP12757
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  acrosomal vesicle  blastocyst formation  lymphocyte homeostasis  chromatin binding  protein binding  nucleus  nucleoplasm  transcription regulator complex  cell cycle arrest  transforming growth factor beta receptor signaling pathway  spermatogenesis  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  protein-containing complex  response to cytokine  negative regulation of cell differentiation  SMAD binding  positive regulation of axonogenesis  lens fiber cell differentiation  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 by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  acrosomal vesicle  blastocyst formation  lymphocyte homeostasis  chromatin binding  protein binding  nucleus  nucleoplasm  transcription regulator complex  cell cycle arrest  transforming growth factor beta receptor signaling pathway  spermatogenesis  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  protein-containing complex  response to cytokine  negative regulation of cell differentiation  SMAD binding  positive regulation of axonogenesis  lens fiber cell differentiation  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 NetworkSKIL
Atlas of Cancer Signalling NetworkSKIL
Wikipedia pathwaysSKIL
Orthology - Evolution
OrthoDB6498
GeneTree (enSembl)ENSG00000136603
Phylogenetic Trees/Animal Genes : TreeFamSKIL
HOGENOMP12757
Homologs : HomoloGeneSKIL
Homology/Alignments : Family Browser (UCSC)SKIL
Gene fusions - Rearrangements
Fusion : MitelmanPLCH1/SKIL [3q25.31/3q26.2]  
Fusion : MitelmanSKIL/GPR160 [3q26.2/3q26.2]  
Fusion PortalPLCH1 3q25.31 SKIL 3q26.2 BRCA
Fusion PortalSKIL 3q26.2 GPR160 3q26.2 BRCA
Fusion : QuiverSKIL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSKIL [hg38]
dbVarSKIL
ClinVarSKIL
MonarchSKIL
1000_GenomesSKIL 
Exome Variant ServerSKIL
GNOMAD BrowserENSG00000136603
Varsome BrowserSKIL
Genomic Variants (DGV)SKIL [DGVbeta]
DECIPHERSKIL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSKIL 
Mutations
ICGC Data PortalSKIL 
TCGA Data PortalSKIL 
Broad Tumor PortalSKIL
OASIS PortalSKIL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSKIL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSKIL
Mutations and Diseases : HGMDSKIL
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
Cancer3DSKIL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165340   
Orphanet
DisGeNETSKIL
MedgenSKIL
Genetic Testing Registry SKIL
NextProtP12757 [Medical]
GENETestsSKIL
Target ValidationSKIL
Huge Navigator SKIL [HugePedia]
ClinGenSKIL
Clinical trials, drugs, therapy
MyCancerGenomeSKIL
Protein Interactions : CTD
Pharm GKB GenePA35797
PharosP12757
Clinical trialSKIL
Miscellaneous
canSAR (ICR)SKIL (select the gene name)
HarmonizomeSKIL
DataMed IndexSKIL
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSKIL
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 : Thu Mar 25 19:45:45 CET 2021
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