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

STIL Gene

protein-coding   GIFtS: 54
GCID: GC01M047715

SCL/TAL1 Interrupting Locus

(Previous name: TAL1 (SCL) interrupting locus)
(Previous symbol: SIL)
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 congenital syphilis.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for STIL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Cytoplasm, cytosol (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:

  • UniProtKB: Phosphorylated following the activation of the mitotic checkpoint
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15468

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

    STIL Protein Expression
    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  

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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for STIL 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    STIL for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry Q15468

    ProtoNet protein and cluster: Q15468


    STIL 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    STIL for ontologies           About GeneDecksing


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

    STIL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Stiltm1Mku for STIL

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

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    6 QIAGEN miScript miRNA 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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    GenScript: all cDNA clones in your preferred vector (see all 2): STIL (NM_003035)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STIL


    (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 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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for STIL

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

    5/7 Interacting proteins for STIL (Q154682, 3 ENSP000003609444) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CENPJQ9HC772MINT-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
    SASS6Q6UVJ02MINT-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): 5/13 biological process terms (GO ID links to tree view) (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--

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

    Browse Tocris compounds for STIL

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for STIL
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of STIL 
                         Customized lentivirus expression plasmids for stable overexpression of STIL 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for STIL
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STIL
      QIAGEN 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 

    24/70 AceView cDNA sequences (see all 70):

    AW079492 BU153990 BQ438813 AI263718 BM474113 BE889805 BC053615 AA903387 
    BM801838 BU181351 BQ437963 AI720064 AI800146 BX279974 H93059 BF984725 
    BI254337 BF802062 CB118699 AW090710 CD651953 AK128406 BM759867 BM759904 

    GeneLoc Exon Structure

    5/7 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™, 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

    STIL expression in normal human tissues (normalized intensities)      STIL embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Choroid Plexus Progenitor Cells Choroid Plexus
             Trigeminal Ganglion   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including STIL: 
              Notch Signaling Pathway in human mouse rat

    Primer
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for STIL gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stil1 , 5 Scl/Tal1 interrupting locus1, 5 81.4(n)1
    75.28(a)1
      4 (52.73 cM)5
    204601  NM_009185.31  NP_033211.21 
     1150001595 
    chicken
    (Gallus gallus)
    Aves STIL1 SCL/TAL1 interrupting locus 63.78(n)
    54.57(a)
      424621  XM_422457.3  XP_422457.2 
    lizard
    (Anolis carolinensis)
    Reptilia STIL6
    Uncharacterized protein
    48(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)
    About This Section
      --

    (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

    10/1520 SNPs in STIL are shown (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--------
    VAR_0298724
    ----see VAR_0298722 P R mis40--------
    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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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, primary, 7 (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

  • 16 diseases for STIL:    About MalaCards
    primary autosomal recessive microcephaly type 7    congenital syphilis    leukemoid reaction    primary autosomal recessive microcephaly
    syphilis    microcephaly    t-cell leukemia    holoprosencephaly
    acute lymphoblastic leukemia    leukemia    lymphoblastic leukemia    acute leukemia
    pancreatic cancer    cerebritis    pancreatitis    lung cancer

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

    STIL for disorders           About GeneDecksing

    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

    PubMed articles for STIL gene, integrated from 9 sources (see all 54):
    (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. (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. (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. (2010)
    4. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. (PubMed id 19215732)1, 2 Kumar A.... Blanton S.H. (2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2005)
    7. Sil overexpression in lung cancer characterizes tumors with increased mitotic activity. (PubMed id 15107824)1, 2 Erez A.... Izraeli S. (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. (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. (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. (2002)

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

    (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 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
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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