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

QKI Gene

protein-coding   GIFtS: 61
GCID: GC06P163835

QKI, KH Domain Containing, RNA Binding

(Previous names: quaking homolog, KH domain RNA binding (mouse))
  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
QKI, KH Domain Containing, RNA Binding1 2     hqkI2
Hqk2 3     Protein Quaking2
Quaking Homolog, KH Domain RNA Binding (Mouse)1     Quaking Homolog, KH Domain RNA Binding2
QK2     RNA Binding Protein HQK2
QK12     HKQ3
QK32     HqkI3
Homolog Of Mouse Quaking QKI (KH Domain RNA Binding Protein)2     

External Ids:    HGNC: 211001   Entrez Gene: 94442   Ensembl: ENSG000001125317   OMIM: 6095905   UniProtKB: Q96PU83   

Export aliases for QKI gene to outside databases

Previous GC identifers: GC06P163188 GC06P163709 GC06P163689 GC06P163728 GC06P163806 GC06P163755 GC06P161274


(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 QKI Gene:
The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from
the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and
oligodendrocyte differentiation and may play a role in schizophrenia. Four transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Sep 2011)

GeneCards Summary for QKI Gene: 
QKI (QKI, KH domain containing, RNA binding) is a protein-coding gene. Diseases associated with QKI include 6q terminal deletion, and schizophrenia. GO annotations related to this gene include SH3 domain binding and RNA binding. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3'
RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation.
Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte
differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in
schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in
regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity)

Gene Wiki entry for QKI 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the QKI gene promoter:
         NF-1   POU3F1   CUTL1   YY1   SRY   E2F-1   STAT3   Chx10   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidQKI promoter sequence
   Search SABiosciences Chromatin IP Primers for QKI

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


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

Entrez Gene cytogenetic band: 6q26   Ensembl cytogenetic band:  6q26   HGNC cytogenetic band: 6q26

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P163835:  view genomic region     (about GC identifiers)

Start:
163,835,032 bp from pter      End:
163,999,628 bp from pter
Size:
164,597 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: QKI_HUMAN, Q96PU8 (See protein sequence)
Recommended Name: Protein quaking  
Size: 341 amino acids; 37671 Da
Subunit: Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63413.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63413.1; Type=Miscellaneous
discrepancy; Note=Cloning artifact in N-terminus; Sequence=AAF63414.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning
artifact in N-terminus; Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Sequence=AAF63416.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63417.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=AAF63417.1; Type=Miscellaneous discrepancy;
Note=Cloning artifact in N-terminus; Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
1 PDB 3D structure from and Proteopedia for QKI:
4JVH (3D)    
Secondary accessions: Q2I375 Q5MJQ1 Q969L9 Q96EJ3 Q96KA3 Q96PU6 Q96PU7 Q9P0X6 Q9P0X7 Q9P0X8
Q9P0X9 Q9P0Y0 Q9P0Y1
Alternative splicing: 6 isoforms:  Q96PU8-1   Q96PU8-3   Q96PU8-5   Q96PU8-6   Q96PU8-8   Q96PU8-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for QKI: NX_Q96PU8

Explore proteomics data for QKI at MOPED 

Post-translational modifications:

  • UniProtKB: Methylated by PRMT1 (By similarity)
  • UniProtKB: Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding
    affinity, affecting transport and/or stabilization of MBP mRNA (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96PU8

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

    QKI Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_006766.1  NP_996735.1  NP_996736.1  NP_996737.1  

    ENSEMBL proteins: 
     ENSP00000354951   ENSP00000408775   ENSP00000275262   ENSP00000375973   ENSP00000355094  
     ENSP00000354867   ENSP00000408382   ENSP00000437867   ENSP00000443690   ENSP00000440991  
     ENSP00000443106   ENSP00000441252   ENSP00000440599   ENSP00000441773   ENSP00000442848  

    Human Recombinant Protein Products for QKI: 
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    Novus Biologicals QKI Proteins
    Novus Biologicals QKI Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for QKI 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    QKI for ontologies           About GeneDecksing



    QKI Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for QKI 

    Assay Products for QKI: 
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    Cloud-Clone Corp. CLIAs for QKI


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q96PU8

    ProtoNet protein and cluster: Q96PU8

    2 Blocks protein domains:
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Similarity: Contains 1 KH domain


    QKI 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: QKI_HUMAN, Q96PU8
    Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3'
    RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation.
    Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte
    differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in
    schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in
    regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16189514
    GO:0017124SH3 domain binding IEA--
         
    QKI for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Qk):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     reproductive system 

    QKI for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for QKI 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for QKI

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

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    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QKI


    (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 QKI About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs


    1 BioSystems Pathway for QKI
        Diurnally regulated genes with circadian orthologs


    Interactions:

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

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

    5/69 Interacting proteins for QKI (Q96PU81, 2, 3 ENSP000003549514) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTBP1P265991, 2, 3, ENSP000003494284EBI-945792,EBI-350540 MINT-2855611 MINT-8339422 MINT-2862237 I2D: score=3 STRING: ENSP00000349428
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-945792,EBI-946095 MINT-2866427 MINT-2856312 I2D: score=3 STRING: ENSP00000305556
    HCLS1P143172, 3, ENSP000003201764MINT-2859489 I2D: score=3 STRING: ENSP00000320176
    RNF138Q8WVD32, 3, ENSP000002615934MINT-2873404 I2D: score=3 STRING: ENSP00000261593
    THAP1Q9NVV92, 3, ENSP000002542504MINT-2874079 I2D: score=3 STRING: ENSP00000254250
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis IEA--
    GO:0006397mRNA processing IEA--
    GO:0006417regulation of translation IEA--
    GO:0007286spermatid development IEA--
    GO:0008366axon ensheathment ----

    QKI 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 QKI

    Search CenterWatch for drugs/clinical trials and news about QKI

    (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 QKI gene (4 alternative transcripts): 
    NM_006775.2  NM_206853.2  NM_206854.2  NM_206855.2  

    Unigene Cluster for QKI:

    QKI, KH domain containing, RNA binding
    Hs.510324  [show with all ESTs]
    Unigene Representative Sequence: NM_206855
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361758 ENST00000453779 ENST00000275262 ENST00000392127 ENST00000361752(uc003qui.3 uc003que.3 uc003quf.3 uc003qug.3 uc003quj.3 uc003quh.3)
    ENST00000361195 ENST00000424802 ENST00000545607 ENST00000544436 ENST00000537041
    ENST00000537124 ENST00000545346 ENST00000544823 ENST00000537883 ENST00000540719
    ENST00000544361 ENST00000541696
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    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AB067798.1 AB067799.1 AB067800.1 AB067801.1 AF272349.1 AJ420502.1 AK027309.1 AK055085.1 
    AK074562.1 AK096701.1 AK295235.1 AK308784.1 AL050218.1 AY780788.1 BC008190.1 BC012222.1 
    BC019917.2 DQ323998.1 

    24/35 DOTS entries (see all 35):

    DT.454551  DT.101973994  DT.95256589  DT.100798534  DT.121644952  DT.444196  DT.100798531  DT.206927 
    DT.212668  DT.100798536  DT.97781562  DT.426724  DT.100798532  DT.121391671  DT.92439646  DT.100798527 
    DT.121391768  DT.95137009  DT.95256562  DT.100798529  DT.91641735  DT.92439628  DT.100798528  DT.100889285 

    24/580 AceView cDNA sequences (see all 580):

    BM970146 W73963 AA081946 AI243360 BQ879486 AA382813 CA426750 AB067800 
    CB178554 AL120142 AA453745 BF445783 CB145623 H41197 BF665855 AI362240 
    BE466275 AI478293 BM983438 BI861078 N30694 BM968192 AI384072 AI498917 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for QKI (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                    -                 -                                                     -     -     -                     
    SP2:                    -                 -                                                                                       
    SP3:                    -                 -                                   -                                                   
    SP4:                                                                          -                 -     -     -                     
    SP5:                                      -     -                                               -     -     -                     


    ECgene alternative splicing isoforms for QKI

    (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

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


    QKI 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 15 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Telencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Node
             left ventricular apex samples   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Root Ganglion   
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             placenta ; trophoblastic cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.510324

    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic
    patients

        SABiosciences Custom PCR Arrays for QKI
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    In Situ
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    (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 and fungi.

    Orthologs for QKI gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Qk1 , 5 quaking1, 5 96.21(n)1
    100(a)1
      17 (7.75 cM)5
    193171  NM_021881.21  NP_068681.11 
     102064715 
    chicken
    (Gallus gallus)
    Aves QKI1 quaking homolog, KH domain RNA binding (mouse) 91.83(n)
    99.03(a)
      374204  NM_204310.2  NP_989641.2 
    lizard
    (Anolis carolinensis)
    Reptilia QKI6
    Uncharacterized protein
    98(a)
    1 ↔ 1
    1(209990904-210137881)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.335702 Xenopus laevis transcribed sequence with weak similarity more 85.86(n)    48050720 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658902 hypothetical protein MGC65890 76.21(n)   393815  BC061709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta how3 RNA binding 50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T21G5.53
    gld-11
    Protein GLD-11 63(a)
    (best of 2)3
    57.86(n)1
    55.41(a)1
      I(6887042-6891034)3
    1725321  NM_059742.51  NP_492143.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL56
    Component of the commitment complex, which defines...
    12(a)
    1 → many
    XII(380822-382252)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for QKI gene
    KHDRBS22  SF12  KHDRBS32  KHDRBS12  
    2 SIMAP similar genes for QKI using alignment to 9 protein entries:     QKI_HUMAN (see all proteins):
    KHDRBS3    KHDRBS2

    QKI 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

    10/3265 SNPs in QKI are shown (see all 3265)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360514
    A colorectal cancer sample4--see VAR_0360512 R Q mis40--------
    rs41126511,2
    C,F,H--163837341(-) GCTATG/AAGAAC 4 -- int110Minor allele frequency- A:0.07NA NS EA WA 802
    rs94588221,2
    F,A,H--163837351(+) CAGTAC/TCTGAA 4 -- int15Minor allele frequency- T:0.00NS EA NA 422
    rs799054441,2
    C,F--163837441(+) CGACTG/AGCCAG 4 -- int11Minor allele frequency- A:0.15WA 118
    rs1825937761,2
    --163837587(+) TCGGGG/TAACAG 4 -- int10--------
    rs1865160391,2
    --163837638(+) AAAGGC/TCGGAA 4 -- int10--------
    rs1481526811,2
    C--163837752(+) TTTCTC/GGTCGT 4 -- int10--------
    rs1907601151,2
    --163837851(+) TTGCTC/GCAGAG 4 -- int10--------
    rs1419394341,2
    --163837910(+) GGCATA/TTGAAA 4 -- int10--------
    rs343594171,2
    C--163837948(+) ATGTC-/A/A   
       A
    /AAA
    AAAAA
    8 -- int1 cds11CSA 2

    HapMap Linkage Disequilibrium report for QKI (163835032 - 163999628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for QKI:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675455CNV Deletion23128226
    nsv524205CNV Loss19592680
    esv26812CNV Loss19812545
    esv2750737CNV Loss17666407
    nsv523664CNV Gain19592680
    dgv2031e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): QKI
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing QKI
    DNA2.0 Custom Variant and Variant Library Synthesis for QKI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609590    OMIM disorders: --

    8 diseases for QKI:    About MalaCards
    6q terminal deletion    schizophrenia    major depressive disorder    azoospermia
    glioblastoma    rheumatoid arthritis    colon cancer    arthritis

    1 disease from the University of Copenhagen DISEASES database for QKI:
    Schizophrenia

    QKI for disorders           About GeneDecksing

    Genetic Association Database (GAD): QKI
    Human Genome Epidemiology (HuGE) Navigator: QKI (1 document)

    Export disorders for QKI 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 QKI gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with QKI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1, 2 Weimann M.... Stelzl U. (2013)
    2. No association found between the promoter variations of QKI and schizophrenia in the Chinese population. (PubMed id 18938205)1, 4 Huang K....Shi Y. (2008)
    3. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis. (PubMed id 18615156)1, 4 Liu C....Gregersen P.K. (2008)
    4. Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia. (PubMed id 16641098)1, 2 Aberg K.... Jazin E. (2006)
    5. Human QKI, a new candidate gene for schizophrenia involved in myelination. (PubMed id 16342280)1, 2 Aeberg K.... Jazin E. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. (PubMed id 12529443)1, 2 Cote J.... Richard S. (2003)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    10. Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. (PubMed id 11856480)1, 2 Li Z.Z.... Abe K. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 9444 HGNC: 21100 AceView: QKI Ensembl:ENSG00000112531 euGenes: HUgn9444
    ECgene: QKI H-InvDB: QKI

    (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 QKI Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

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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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