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STIL Gene

protein-coding   GIFtS: 55
GCID: GC01M047715

SCL/TAL1 Interrupting Locus

(Previous name: TAL1 (SCL) interrupting locus)
(Previous symbol: SIL)
  See STIL-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)
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Aliases
SCL/TAL1 Interrupting Locus1 2
SIL1 2 3 5
TAL-1-Interrupting Locus Protein2 3
MCPH72 5
TAL1 (SCL) Interrupting Locus1
SCL-Interrupting Locus Protein2

External Ids:    HGNC: 108791   Entrez Gene: 64912   Ensembl: ENSG000001234737   OMIM: 1815905   UniProtKB: Q154683   

Export aliases for STIL gene to outside databases

Previous GC identifers: GC01M047428 GC01M047488 GC01M045832


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for STIL Gene:
This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory
pathway that monitors chromosome segregation during cell division to ensure the proper distribution of
chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the
spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and
its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase
activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus
commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for STIL Gene:
STIL (SCL/TAL1 interrupting locus) is a protein-coding gene. Diseases associated with STIL include primary autosomal recessive microcephaly type 7, and ideomotor apraxia.

UniProtKB/Swiss-Prot: STIL_HUMAN, Q15468
Function: Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and
proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases
CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic
hedgehog pathway, acting downstream of PTCH1

Gene Wiki entry for STIL 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STIL gene promoter:
         GR   Bach1   Pax-5   LCR-F1   Gfi-1   c-Rel   IRF-2   FOXC1   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTIL promoter sequence
   Search Chromatin IP Primers for STIL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STIL


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

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p32

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M047715:  view genomic region     (about GC identifiers)

Start:
47,715,811 bp from pter      End:
47,779,819 bp from pter
Size:
64,009 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STIL_HUMAN, Q15468 (See protein sequence)
Recommended Name: SCL-interrupting locus protein  
Size: 1287 amino acids; 142955 Da
Subunit: Interacts with PIN1 via its WW domain. This interaction is dependent on STIL mitotic phosphorylation (By
similarity)
Secondary accessions: Q5T0C5 Q68CN9
Alternative splicing: 2 isoforms:  Q15468-1   Q15468-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for STIL: NX_Q15468

Explore proteomics data for STIL at MOPED

Post-translational modifications: 

  • Phosphorylated following the activation of the mitotic checkpoint1
  • Ubiquitination2 at Lys334, Lys755, Lys954, Lys1000
  • Modification sites at PhosphoSitePlus

  • See STIL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001041631.1  NP_001269865.1  NP_001269866.1  NP_001269867.1  NP_001269868.1  NP_003026.2  

    ENSEMBL proteins: 
     ENSP00000353544   ENSP00000360944   ENSP00000379523   ENSP00000411664   ENSP00000409087  
     ENSP00000412019   ENSP00000337367   ENSP00000243182  

    STIL Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for STIL

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026123 Sil

    Graphical View of Domain Structure for InterPro Entry Q15468

    ProtoNet protein and cluster: Q15468


    Find genes that share domains with STIL           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STIL_HUMAN, Q15468
    Function: Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and
    proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases
    CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic
    hedgehog pathway, acting downstream of PTCH1
    Induction: Down-regulated when cell proliferation ceased. Accumulates during G2 phase and falls at completion of
    the cell cycle

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with STIL           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Stil):
     cellular  embryogenesis  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with STIL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stiltm1Mku for STIL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STIL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for STIL

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

    miRNA
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    miRTarBase miRNAs that target STIL:
    hsa-mir-26b-5p (MIRT029440), hsa-mir-192-5p (MIRT026496), hsa-mir-17-5p (MIRT051025), hsa-mir-215-5p (MIRT024832), hsa-mir-20a-5p (MIRT050600)

    Block miRNA regulation of human, mouse, rat STIL using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate STIL:
    hsa-miR-3163 hsa-miR-144 hsa-miR-1266 hsa-miR-4305 hsa-miR-4276 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidSTIL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STIL

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STIL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STIL_HUMAN, Q15468: Cytoplasm, cytosol (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with STIL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for STIL About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family


    1 BioSystems Pathway for STIL
        Signaling events mediated by the Hedgehog family


        Pathway & Disease-focused RT2 Profiler PCR Array including STIL: 
              Notch Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for STIL

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for STIL (Q154681, 2, 3 ENSP000003609444) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CENPJQ9HC771, 2EBI-7488405,EBI-946194 MINT-8389200 MINT-8389100 MINT-8389119 MINT-8388987 MINT-8389061 MINT-8389076 MINT-8389227 MINT-8389213 MINT-8389143 MINT-8389045 MINT-8389027 MINT-8389177 MINT-8389160
    SASS6Q6UVJ01, 2EBI-7488405,EBI-1570153 MINT-8389200 MINT-8389015 MINT-8389213 MINT-8389027 MINT-8389227
    PIN1Q135263, ENSP000002479704I2D: score=2 STRING: ENSP00000247970
    STILQ154682MINT-8389003
    PTCH1ENSP000003323534STRING: ENSP00000332353
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000578embryonic axis specification ISS--
    GO:0001701in utero embryonic development ISS--
    GO:0001843neural tube closure ISS--
    GO:0001947heart looping ISS--
    GO:0007224smoothened signaling pathway ISS--

    Find genes that share ontologies with STIL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STIL



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for STIL gene (6 alternative transcripts): 
    NM_001048166.1  NM_001282936.1  NM_001282937.1  NM_001282938.1  NM_001282939.1  NM_003035.2  

    Unigene Cluster for STIL:

    SCL/TAL1 interrupting locus
    Hs.525198  [show with all ESTs]
    Unigene Representative Sequence: M74558
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360380(uc010omn.1 uc010omo.1 uc001cre.1 uc001crg.1)
    ENST00000371877 ENST00000396221 ENST00000447475 ENST00000418131(uc001crf.1)
    ENST00000436811 ENST00000433827 ENST00000413565 ENST00000337817(uc001crc.1 uc001crd.1)
    ENST00000243182
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate STIL:
    hsa-miR-3163 hsa-miR-144 hsa-miR-1266 hsa-miR-4305 hsa-miR-4276 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidSTIL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for STIL
    Predesigned siRNA for gene silencing in human, mouse, rat STIL
    Clone
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    OriGene clones in human, mouse for STIL (see all 12)
    OriGene ORF clones in mouse, rat for STIL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STIL (NM_003035)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STIL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STIL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for STIL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STIL
      QuantiTect SYBR Green Assays in human, mouse, rat STIL
      QuantiFast Probe-based Assays in human, mouse, rat STIL

    Additional mRNA sequence: 

    AK098445.1 AK307519.1 BC053615.1 BC126223.1 BC136432.1 BC144089.1 CR749851.1 M74558.1 

    6 DOTS entries:

    DT.95373288  DT.95373289  DT.101979403  DT.101979402  DT.102823755  DT.75121460 

    Selected AceView cDNA sequences (see all 70):

    AA903387 BM801838 BC053615 AW079492 BQ438813 BX279974 AI800146 BU181351 
    BU153990 BQ437963 AI263718 BM474113 BE889805 AI720064 AA897748 BF802062 
    BF984725 CB118699 AL704494 BX452271 AW175880 AK098445 BU632178 NM_003035 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STIL (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                                                                -                                                     -                     
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                        -                                                   
    SP5:                                                                                                                                                            

    ExUns: 21
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for STIL

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STIL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACACTGGC
    STIL Expression
    About this image


    STIL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Brain (Nervous System)
             Choroid Plexus Progenitor Cells Choroid Plexus
    STIL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STIL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525198

    UniProtKB/Swiss-Prot: STIL_HUMAN, Q15468
    Tissue specificity: Expressed in all hematopoietic tissues and cell lines. Highly expressed in a variety of tumors
    characterized by increased mitotic activity with highest expression in lung cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including STIL: 
              Notch Signaling Pathway in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STIL
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    QuantiFast Probe-based Assays in human, mouse, rat STIL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STIL

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for STIL gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stil1 , 5 Scl/Tal1 interrupting locus1, 5 81.35(n)1
    75.2(a)1
      4 (52.73 cM)5
    204601  NM_009185.31  NP_033211.21 
     1150001595 
    chicken
    (Gallus gallus)
    Aves STIL1 SCL/TAL1 interrupting locus 63.44(n)
    54.44(a)
      424621  XM_004936776.1  XP_004936833.1 
    lizard
    (Anolis carolinensis)
    Reptilia STIL6
    SCL/TAL1 interrupting locus
    47(a)
    1 ↔ 1
    GL343249.1(1673355-1689611)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.70382 Xenopus laevis transcribed sequence with weak similarity more 75.55(n)    CA790785.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sill2 TAL1 (SCL) interrupting locus like 74.08(n)   192317  AY099525.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STIL (see all 1520)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37663171,2,,4
    C,F,Hnon-pathogenic147795566(-) CAATGC/TAGATA 4 A V mis1 ese39Minor allele frequency- T:0.01EA NS NA 2250
    rs287053681,2
    Cnon-pathogenic147825204(+) GATGGC/G/TTGGAT 4 Q H mis10--------
    rs284725451,2
    Cnon-pathogenic147825205(+) ATGGTG/TGGATC 4 Q P mis10--------
    rs31256301,2,,4
    C,F,O,A,Hnon-pathogenic147846252(+) CGTCTA/GCTGTC 4 A V mis1 ese337Minor allele frequency- G:0.39NS EA NA WA CSA EU 8857
    rs1219186091,2
    Cpathogenic147795285(-) TCACTC/TAACAT 4 Q * stg10--------
    rs347718411,2
    C--45832613(+) TGTATAA/-AAGAG 4 -- ut311Minor allele frequency- -:0.50NA 2
    rs19677581,2
    C,F,A--45844016(-) GGCTAT/ATTTTT 2 -- int14Minor allele frequency- A:0.29NA CSA 7
    rs107136981,2
    C,F--45849930(+) tatctA/-aaaaa 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs3705646711,2
    C--45849931(+) GTATC-/AAAAAAA 2 -- int10--------
    rs127566841,2
    A--45852525(+) ATATaC/Tacaca 2 -- int10--------

    HapMap Linkage Disequilibrium report for STIL (47715811 - 47779819 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for STIL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273293CNV Insertion20981092
    esv33183CNV Gain17666407
    nsv822531CNV Gain20364138
    nsv441692CNV CNV18776908

    Human Gene Mutation Database (HGMD): STIL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STIL
    DNA2.0 Custom Variant and Variant Library Synthesis for STIL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 181590   
    OMIM disorders: 612703  
    UniProtKB/Swiss-Prot: STIL_HUMAN, Q15468
  • Note=A chromosomal aberration involving STIL may be a cause of some T-cell acute lymphoblastic leukemias
    (T-ALL). A deletion at 1p32 between STIL and TAL1 genes leads to STIL/TAL1 fusion mRNA with STIL exon 1 slicing
    to TAL1 exon 3. As both STIL exon 1 and TAL1 exon 3 are 5'-untranslated exons, STIL/TAL1 fusion mRNA predicts a
    full length TAL1 protein under the control of the STIL promoter, leading to inappropriate TAL1 expression. In
    childhood T-cell malignancies (T-ALL), a type of defect such as STIL/TAL1 fusion is associated with a good
    prognosis. In cultured lymphocytes from healthy adults, STIL/TAL1 fusion mRNA may be detected after 7 days of
    culture
  • Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 5 diseases for STIL:    
    About MalaCards
    primary autosomal recessive microcephaly type 7    ideomotor apraxia    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders    primary autosomal recessive microcephaly type 1
    precursor t-cell acute lymphoblastic leukemia

    1 disease from the University of Copenhagen DISEASES database for STIL:
    Microcephaly

    Find genes that share disorders with STIL           About GenesLikeMe

    5 Novoseek inferred disease relationships for STIL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    t-all 88 31 8459224 (5), 18439091 (4), 8255100 (3), 7773964 (1) (see all 8)
    leukemogenesis 64.3 1 16368887 (1)
    minimal residual disease 50.3 1 8255100 (1)
    acute leukemia 36.9 2 8255100 (1)
    leukemia 23.1 2 8255100 (1)

    GeneTests: STIL
    GeneReviews: STIL
    Genetic Association Database (GAD): STIL
    Human Genome Epidemiology (HuGE) Navigator: STIL (3 documents)

    Export disorders for STIL 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

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    PubMed articles for STIL gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with STIL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia. (PubMed id 2209547)1, 2, 3 Brown L....Baer R. (EMBO J. 1990)
    2. Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR. (PubMed id 12681356)1, 2, 9 Curry J.D. and Smith M.T. (Leuk. Res. 2003)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. (PubMed id 19215732)1, 2 Kumar A.... Blanton S.H. (Am. J. Hum. Genet. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Sil phosphorylation in a Pin1 binding domain affects the duration of the spindle checkpoint. (PubMed id 16024801)1, 2 Campaner S.... Kirsch I.R. (Mol. Cell. Biol. 2005)
    7. Sil overexpression in lung cancer characterizes tumors with increased mitotic activity. (PubMed id 15107824)1, 2 Erez A.... Izraeli S. (Oncogene 2004)
    8. Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951. (PubMed id 14504110)1, 2 Cave H.... Dastugue N. (Blood 2004)
    9. 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. (Genome Res. 2004)
    10. The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. (PubMed id 12438740)1, 2 Karkera J.D....Muenke M. (Cytogenet. Genome Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 6491 HGNC: 10879 AceView: SIL Ensembl:ENSG00000123473 euGenes: HUgn6491
    ECgene: STIL H-InvDB: STIL

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for STIL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for STIL 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

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    Patent Information for STIL gene:
    Search GeneIP for patents involving STIL

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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