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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SKIL Gene

protein-coding   GIFtS: 62
GCID: GC03P170075

SKI-Like Oncogene

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SKI-Like Oncogene1 2     Ski-Like Protein2
SNO2 3     Ski-Related Oncogene SnoN2
SnoA2     Ski-Related Oncogene3
SnoI2     Ski-Related Protein3
SnoN2     

External Ids:    HGNC: 108971   Entrez Gene: 64982   Ensembl: ENSG000001366037   OMIM: 1653405   UniProtKB: P127573   

Export aliases for SKIL gene to outside databases

Previous GC identifers: GC03P167219 GC03P171126 GC03P171479 GC03P171398 GC03P171396 GC03P171558 GC03P167445


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SKIL Gene:
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and
differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein
binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling
causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript
variants encoding three different isoforms have been found for this gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for SKIL Gene: 
SKIL (SKI-like oncogene) is a protein-coding gene. Diseases associated with SKIL include barrett's esophagus, and esophageal squamous cell carcinoma, and among its related super-pathways are Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer and Gene Expression. GO annotations related to this gene include transcription corepressor activity and nucleotide binding. An important paralog of this gene is SKI.

UniProtKB/Swiss-Prot: SKIL_HUMAN, P12757
Function: May have regulatory role in cell division or differentiation in response to extracellular signals

Gene Wiki entry for SKIL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SKIL gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSKIL promoter sequence
   Search SABiosciences Chromatin IP Primers for SKIL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SKIL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26   Ensembl cytogenetic band:  3q26.2   HGNC cytogenetic band: 3q26

SKIL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SKIL gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P170075:  view genomic region     (about GC identifiers)

Start:
170,075,466 bp from pter      End:
170,114,623 bp from pter
Size:
39,158 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SKIL_HUMAN, P12757 (See protein sequence)
Recommended Name: Ski-like protein  
Size: 684 amino acids; 76976 Da
Subunit: Interacts with SMAD2, SMAD3 and RNF111. Isoform 1 interacts with WWP1
1 PDB 3D structure from and Proteopedia for SKIL:
3EQ5 (3D)    
Secondary accessions: A6NGT1 B4DT50 O00464 P12756 Q07501
Alternative splicing: 5 isoforms:  P12757-1   P12757-2   P12757-3   P12757-4   P12757-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SKIL: NX_P12757

Explore proteomics data for SKIL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12757

  • SKIL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SKIL Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001138569.1  NP_001138570.1  NP_001234937.1  NP_005405.2  

    ENSEMBL proteins: 
     ENSP00000417670   ENSP00000259119   ENSP00000406520   ENSP00000400193   ENSP00000415243  
     ENSP00000418237  
    Reactome Protein details: P12757
    Human Recombinant Protein Products for SKIL: 
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    OriGene Protein Over-expression Lysate for SKIL
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    OriGene Custom Protein Services for SKIL
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    Novus Biologicals SKIL Proteins
    Novus Biologicals SKIL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SKIL 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14712482
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA16109768
    GO:0016605PML body IDA19383336

    SKIL for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for SKIL 

    Assay Products for SKIL: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SKOR: SKI transcriptional corepressors

    5 InterPro protein domains:
     IPR009061 DNA-bd_dom_put
     IPR010919 SAND_dom-like
     IPR023216 Tscrpt_reg_SKI_SnoN
     IPR003380 Transform_Ski
     IPR014890 c-SKI_SMAD4-bd_dom

    Graphical View of Domain Structure for InterPro Entry P12757

    ProtoNet protein and cluster: P12757

    3 Blocks protein domains:
    IPB000770 SAND domain
    IPB003380 Transforming protein Ski
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SKIL_HUMAN, P12757
    Similarity: Belongs to the SKI family


    SKIL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SKIL_HUMAN, P12757
    Function: May have regulatory role in cell division or differentiation in response to extracellular signals

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003677NOT DNA binding IDA10531062
    GO:0003682chromatin binding ISS--
    GO:0003714transcription corepressor activity IDA10531062
    GO:0005515protein binding IPI10049357
         
    SKIL for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Skil):
     cellular  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  tumorigenesis 

    SKIL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SKIL: Skiltm1Sis Skiltm1Spw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SKIL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SKIL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SKIL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SKIL 

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate SKIL (see all 17):
    hsa-miR-579 hsa-miR-520d-5p hsa-miR-15a hsa-miR-216b hsa-miR-410 hsa-miR-424 hsa-miR-195 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSKIL 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SKIL
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                         Customized lentivirus expression plasmids for stable overexpression of SKIL 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKIL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SKIL About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer0.63
    Downregulation of SMAD2/3:SMAD4 transcriptional activity0.56
    Signaling by TGF-beta Receptor Complex0.61
    2Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    3Development TGF-beta receptor signaling
    Development TGF-beta receptor signaling0.96
    4TGF-Beta Pathway
    TGF-Beta Pathway0.60
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SKIL
        Development TGF-beta receptor signaling

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SKIL
        SMAD Signaling Network
    Transcriptional Regulatory Network in Embryonic Stem Cell
    TGF-Beta Pathway

    1 Cell Signaling Technology (CST) Pathway for SKIL
        TGF-beta/Smad Signaling

    1 GeneGo (Thomson Reuters) Pathway for SKIL
        Development TGF-beta receptor signaling

    4 BioSystems Pathways for SKIL
        TGF Beta Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    TGF-beta receptor signaling
    Regulation of nuclear SMAD2/3 signaling

    5/6        Reactome Pathways for SKIL (see all 6)
        Signaling by TGF-beta Receptor Complex
    Downregulation of SMAD2/3:SMAD4 transcriptional activity
    Generic Transcription Pathway
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Signal Transduction



    SKIL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SKIL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/137 Interacting proteins for SKIL (P127571, 2, 3 ENSP000002591194) via UniProtKB, MINT, STRING, and/or I2D (see all 137)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3, ENSP000002621604MINT-60921 MINT-61636 I2D: score=6 STRING: ENSP00000262160
    SMAD3P840222, 3, ENSP000003329734MINT-61640 I2D: score=5 STRING: ENSP00000332973
    NCOR1O753762, 3, ENSP000002687124MINT-61662 I2D: score=4 STRING: ENSP00000268712
    FBLN1P231422, 3, ENSP000003315444MINT-61641 I2D: score=3 STRING: ENSP00000331544
    HEYLQ9NQ872, 3, ENSP000003619434MINT-61635 I2D: score=3 STRING: ENSP00000361943
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS--
    GO:0001825blastocyst formation IEA--
    GO:0002260lymphocyte homeostasis IEA--
    GO:0006351transcription, DNA-dependent TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    SKIL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SKIL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SKIL

    2 Novoseek inferred chemical compound relationships for SKIL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 49 3 16871886 (2)
    lysine 0.732 4 11691834 (2), 16966324 (1)

    Search CenterWatch for drugs/clinical trials and news about SKIL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SKIL gene (4 alternative transcripts): 
    NM_001145097.2  NM_001145098.2  NM_001248008.1  NM_005414.4  

    Unigene Clusters for SKIL:

    SKI-like oncogene
    Hs.536655  [show with all ESTs], Hs.581632  [show with all ESTs]
    Unigene Representative Sequences: NM_005414, JX103164
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477216 ENST00000465590 ENST00000476188 ENST00000259119 ENST00000426052
    ENST00000490989 ENST00000413427 ENST00000458537(uc011bps.2 uc003fgu.3 uc003fgv.3 uc003fgw.3)
    ENST00000470571 ENST00000490894
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate SKIL (see all 17):
    hsa-miR-579 hsa-miR-520d-5p hsa-miR-15a hsa-miR-216b hsa-miR-410 hsa-miR-424 hsa-miR-195 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSKIL 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: JX103164.1 

    12 DOTS entries:

    DT.209925  DT.97804150  DT.99999851  DT.100783679  DT.91892330  DT.120907416  DT.91800467  DT.100748962 
    DT.92423425  DT.100751003  DT.91731303  DT.95271121 

    24/213 AceView cDNA sequences (see all 213):

    BM678699 AL044708 BU189657 AW779041 U70730 AW778903 CA418219 AW105461 
    AA278329 CB069384 BG236257 BQ024554 AA743632 AA862980 AW662250 AW515987 
    AA017059 AA953430 AW118511 AA280815 BF434248 AA513300 AA280992 AI479216 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SKIL    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:        -                                                               
    SP2:                                      -                                 
    SP3:                                                                        
    SP4:                                -     -                                 


    ECgene alternative splicing isoforms for SKIL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SKIL expression in normal human tissues (normalized intensities)      SKIL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SKIL Expression
    About this image


    SKIL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             bone marrow cd34+   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalon
     
     Eye (Sensory Organs)
             Retina

    See SKIL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SKIL

    SOURCE GeneReport for Unigene clusters: Hs.536655 Hs.581632

    UniProtKB/Swiss-Prot: SKIL_HUMAN, P12757
    Tissue specificity: Isoform SNON and isoform SNOA are widely expressed. Highest expression is found in skeletal
    muscle, followed by placenta and lung. Lowest expression in heart, brain and pancreas. Isoform SNOI expression is
    restricted to skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including SKIL: 
              Hepatotoxicity in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SKIL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKIL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SKIL gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Skil1 , 5 SKI-like1, 5 85.48(n)1
    89.19(a)1
      3 (15.12 cM)5
    204821  NM_011386.21  NP_035516.21 
     310950585 
    chicken
    (Gallus gallus)
    Aves SKIL1 SKI-like oncogene 75.23(n)
    76.07(a)
      396087  NM_205174.2  NP_990505.1 
    lizard
    (Anolis carolinensis)
    Reptilia SKIL6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    3(7585446-7615366)
    zebrafish
    (Danio rerio)
    Actinopterygii skilb1 SKI-like oncogene b 52.5(n)
    48.28(a)
      100170835  NM_001130669.1  NP_001124141.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72333   -- 46(a)   28D3   --


    ENSEMBL Gene Tree for SKIL (if available)
    TreeFam Gene Tree for SKIL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SKIL gene
    SKI2  SKOR22  SKOR12  
    1 SIMAP similar gene for SKIL using alignment to 4 protein entries:     SKIL_HUMAN (see all proteins):
    SKI

    SKIL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/988 SNPs in SKIL are shown (see all 988)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774911471,2
    --170073621(+) TTGACC/GTGGTG 2 -- us2k10--------
    rs1840881831,2
    --170073748(+) CTCTGC/TACAGA 2 -- us2k10--------
    rs1132362471,2
    C--170074001(+) AAAAAA/TAATAA 2 -- us2k10--------
    rs1420033681,2
    C--170074001(+) AAAAA-/AATAATAA 2 -- cds10--------
    rs778438601,2
    C--170074002(+) AAAAA-/AAT/TA
            
    ATAAA
    4 -- us2k1 cds10--------
    rs350926911,2
    C--170074004(+) AAAAT-/AA    
       T
    /TAA
    AAAAA
    4 -- cds11NA 2
    rs1144644651,2
    F--170074054(+) TGTGGG/CCCCCC 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1497508031,2
    --170074086(+) AAAACC/TAGAAG 2 -- us2k10--------
    rs730383211,2
    C,F--170074129(+) CAAAGC/GTCGAG 2 -- us2k12Minor allele frequency- G:0.07WA 120
    rs1455991111,2
    --170074152(+) TGTGCA/TCTGCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SKIL (170075466 - 170114623 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SKIL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv519286CNV Loss19592680
    nsv7356OTHER Inversion18451855

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing SKIL:
    Lung Cancer
    SeqTarget long-range PCR primers for resequencing SKIL
    DNA2.0 Custom Variant and Variant Library Synthesis for SKIL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 165340    OMIM disorders: --

    19 diseases for SKIL:    About MalaCards
    barrett's esophagus    esophageal squamous cell carcinoma    scleroderma    esophageal cancer
    esophagitis    malignant glioma    retinoblastoma    colorectal cancer
    melanoma    squamous cell carcinoma    ovarian cancer    hepatocellular carcinoma
    thyroiditis    adenocarcinoma    pancreatitis    hepatitis
    prostate cancer    prostatitis    neuronitis


    SKIL for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for SKIL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy obstructive 66.6 3 16959829 (1), 15537870 (1), 17625116 (1)
    cancer 29 23 16109768 (2), 17074815 (2), 16314499 (2), 18537639 (1) (see all 12)
    melanoma 15.7 11 18782659 (5), 15809735 (3), 16845326 (2)
    tumors 5.23 11 10705283 (2), 12941827 (1), 18212064 (1), 12764135 (1) (see all 7)
    breast carcinoma 2.11 3 12941827 (3)
    colorectal cancer 0.739 3 17062133 (1), 19096149 (1)
    leukemia 0 4 19745809 (1), 19920850 (1)
    breast cancer 0 5 12941827 (2), 17074815 (1)
    carcinoma 0 7 19096149 (2)

    Genetic Association Database (GAD): SKIL
    Human Genome Epidemiology (HuGE) Navigator: SKIL (1 document)
    Tumor Gene Database (TGDB): SKIL

    Export disorders for SKIL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SKIL gene, integrated from 9 sources (see all 119):
    (articles sorted by number of sources associating them with SKIL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human cDNA clones of ski and the ski-related gene, sno. (PubMed id 2762147)1, 2, 3 Nomura N.... Ishizaki R. (1989)
    2. SnoI, a novel alternatively spliced isoform of the ski proto-oncogene homolog, sno. (PubMed id 8233802)1, 2, 9 Pearson-White S. (1993)
    3. Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation. (PubMed id 17591695)1, 2, 9 Levy L.... Hill C.S. (2007)
    4. Proto-oncogene Sno expression, alternative isoforms and immediate early serum response. (PubMed id 9207045)1, 2, 9 Pearson-White S.H. and Crittenden R. (1997)
    5. Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1). (PubMed id 15221015)1, 2, 9 Komuro A....Miyazawa K. (2004)
    6. Seven prostate cancer susceptibility loci identified b y a multi-stage genome-wide association study. (PubMed id 21743467)1, 4 Kote-Jarai Z.... . (2011)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Sumoylated SnoN represses transcription in a promoter-specific manner. (PubMed id 16966324)1, 9 Hsu Y.H....Bonni S. (2006)
    9. Downregulation of SnoN expression in obstructive nephropathy is mediated by an enhanced ubiquitin-dependent degradation. (PubMed id 16959829)1, 9 Tan R....Liu Y. (2006)
    10. Dual role of SnoN in mammalian tumorigenesis. (PubMed id 17074815)1, 9 Zhu Q....Luo K. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6498 HGNC: 10897 AceView: SKIL Ensembl:ENSG00000136603 euGenes: HUgn6498
    ECgene: SKIL H-InvDB: SKIL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SKIL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SKIL Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SKIL gene:
    Search GeneIP for patents involving SKIL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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