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CLN3 Gene

protein-coding   GIFtS: 63
GCID: GC16M028488

Ceroid-Lipofuscinosis, Neuronal 3

(Previous names: Batten, Spielmeyer-Vogt disease)
(Previous symbol: BTS)
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(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
Ceroid-Lipofuscinosis, Neuronal 31 2     Juvenile Neuronal Ceroid Lipofuscinosis1
BTS1 2 3 5     JNCL2
Batten Disease Protein2 3     battenin2
Batten, Spielmeyer-Vogt Disease1     Protein CLN33

External Ids:    HGNC: 20741   Entrez Gene: 12012   Ensembl: ENSG000001886037   OMIM: 6070425   UniProtKB: Q132863   

Export aliases for CLN3 gene to outside databases

Previous GC identifers: GC16P028406 GC16P028790 GC16P028559 GC16P028601 GC16M028396 GC16M026514


(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 CLN3 Gene:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal
ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or
collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLN3 Gene:
CLN3 (ceroid-lipofuscinosis, neuronal 3) is a protein-coding gene. Diseases associated with CLN3 include neuronal ceroid lipofuscinosis, and spielmeyer-vogt disease. GO annotations related to this gene include unfolded protein binding. An important paralog of this gene is ENSG00000261832.

UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286
Function: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes

Gene Wiki entry for CLN3 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_000016.10  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLN3 gene promoter:
         AP-1   ATF-2   c-Jun   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLN3 promoter sequence
   Search Chromatin IP Primers for CLN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLN3


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

Entrez Gene cytogenetic band: 16p12.1   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p12

CLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M028488:  view genomic region     (about GC identifiers)

Start:
28,477,983 bp from pter      End:
28,506,896 bp from pter
Size:
28,914 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286 (See protein sequence)
Recommended Name: Battenin precursor  
Size: 438 amino acids; 47623 Da
Subunit: Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP
Secondary accessions: B2R7J1 O00668 O95089 Q549S9 Q9UP09 Q9UP11 Q9UP12 Q9UP13 Q9UP14
Alternative splicing: 6 isoforms:  Q13286-1   Q13286-2   Q13286-3   Q13286-4   Q13286-5   Q13286-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CLN3: NX_Q13286

Explore proteomics data for CLN3 at MOPED

Post-translational modifications: 

  • Highly glycosylated1
  • Farnesylation is important for trafficking to lysosomes1
  • Ubiquitination2 at Lys262
  • Glycosylation2 at Asn71, Thr80, Asn85, Asn310
  • Modification sites at PhosphoSitePlus

  • See CLN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000077.1  NP_001035897.1  NP_001273033.1  NP_001273034.1  NP_001273038.1  NP_001273039.1  

    ENSEMBL proteins: 
     ENSP00000454466   ENSP00000454229   ENSP00000329171   ENSP00000350457   ENSP00000350523  
     ENSP00000455387   ENSP00000379014   ENSP00000455549   ENSP00000456693   ENSP00000454680  
     ENSP00000456117   ENSP00000455342   ENSP00000455603   ENSP00000456414   ENSP00000456013  
     ENSP00000458015   ENSP00000456122   ENSP00000457615   ENSP00000454899   ENSP00000455365  
     ENSP00000353116   ENSP00000353073   ENSP00000346650   ENSP00000347660   ENSP00000443221  
     ENSP00000349586  

    CLN3 Human Recombinant Protein Products:

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    Novus Biologicals CLN3 Protein
    Novus Biologicals CLN3 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CLN3 Antibody Products:

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    Abcam antibodies for CLN3
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    LSBio Antibodies in human, mouse, rat for CLN3

    CLN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018460 Battenin_disease_Cln3_subgr
     IPR003492 Battenin_disease_Cln3
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q13286

    ProtoNet protein and cluster: Q13286

    1 Blocks protein domain: IPB003492 CLN3 Batten's disease protein (battenin) signature

    UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286
    Similarity: Belongs to the battenin family


    CLN3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLN3_HUMAN, Q13286
    Function: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes

         Genatlas biochemistry entry for CLN3:
    integral lysosomal membrane protein battenin,highly conserved,with alternatively spliced forms,expressed in
    astrocytes,capillary endothelium and neurons of gray matter of the brain in peripheral nerve,pancreatic islet
    cells and within the seminiferous tubules of the testis,involved in synaptic trafficking through the endoplasmic
    reticulum and Golgi,potentially protecting neurons from apoptosis mediated by ceramide,yeast BTN1 ortholog

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12134079
    GO:0051082unfolded protein binding TAS8980123
         
    CLN3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLN3:
     Decreased Tat-dependent transc  Decreased p24 protein expressi 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cln3):
     behavior/neurological  cellular  homeostasis/metabolism  liver/biliary system  mortality/aging 
     nervous system  no phenotypic analysis  renal/urinary system  reproductive system  vision/eye 

    CLN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CLN3: Cln3tm1Mkat Cln3tm1Mem Cln3tm1Nbm Cln3tm1.1Mem

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLN3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLN3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLN3

    miRNA
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    miRTarBase miRNAs that target CLN3:
    hsa-mir-7-5p (MIRT025765), hsa-mir-877-3p (MIRT037057)

    Block miRNA regulation of human, mouse, rat CLN3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CLN3
    SwitchGear 3'UTR luciferase reporter plasmidCLN3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLN3

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    OriGene clones in human, mouse for CLN3 (see all 11)
    OriGene ORF clones in mouse, rat for CLN3
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLN3 (NM_001042432)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3


    (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
    CLN3_HUMAN, Q13286: Lysosome membrane; Multi-pass membrane protein. Late endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    golgi apparatus5
    lysosome5
    nucleus5
    plasma membrane5
    vacuole5
    mitochondrion4

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA10191111
    GO:0005634nucleus IDA10191116
    GO:0005737cytoplasm IDA10191116
    GO:0005739mitochondrion TAS8980123
    GO:0005764lysosome IDA10924275

    CLN3 for ontologies           About GeneDecksing


    (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 CLN3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for CLN3):
        Lysosome


    CLN3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLN3: 
              GABA & Glutamate in human mouse rat
              Autophagy in human mouse rat
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CLN3

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

    Selected Interacting proteins for CLN3 (Q132863 ENSP000003530734) via UniProtKB, MINT, STRING, and/or I2D (see all 715)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000046autophagic vacuole fusion ISS--
    GO:0001508action potential ISS--
    GO:0001575globoside metabolic process IMP15240864
    GO:0006457protein folding TAS8980123
    GO:0006520cellular amino acid metabolic process ISS--

    CLN3 for ontologies           About GeneDecksing



    (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 CLN3

    8 Novoseek inferred chemical compound relationships for CLN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 42.5 2 17286803 (1), 9878558 (1)
    ceramide 33.6 7 10191118 (3), 16151633 (2)
    atp 10.8 2 11589015 (1), 10356317 (1)
    arginine 4.06 3 14660799 (2), 17896996 (1)
    glutamate 1.58 2 9490299 (1), 9450775 (1)
    lysine 0 1 9450775 (1)
    lipid 0 4 17896996 (1), 18317235 (1), 17237713 (1), 15094366 (1)
    serine 0 1 9878558 (1)



    CLN3 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLN3 gene (6 alternative transcripts): 
    NM_000086.2  NM_001042432.1  NM_001286104.1  NM_001286105.1  NM_001286109.1  NM_001286110.1  

    Unigene Cluster for CLN3:

    Ceroid-lipofuscinosis, neuronal 3
    Hs.534667  [show with all ESTs]
    Unigene Representative Sequence: AK090709
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 41):
    ENST00000564091 ENST00000569430 ENST00000333496 ENST00000563874(uc002dqa.2 uc010vcx.1)
    ENST00000357806(uc021tfs.1) ENST00000357857 ENST00000567963(uc002dpx.1)
    ENST00000395653 ENST00000565354 ENST00000568422 ENST00000566057 ENST00000569030
    ENST00000565316 ENST00000568452 ENST00000568076 ENST00000561689 ENST00000565140
    ENST00000568558(uc002dpy.1)

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLN3 (NM_001042432)
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    Additional mRNA sequence: 

    AF015593.1 AF015594.1 AF015595.1 AF015596.1 AF015597.1 AF015598.1 AF015599.1 AF015600.1 
    AF015601.1 AF015602.1 AF077956.1 AF077957.1 AF077958.1 AF077959.1 AF077960.1 AF077961.1 
    AF077962.1 AF077966.1 AF077970.1 AF077971.1 AF077972.1 AF078168.1 AF078169.1 AK090709.1 
    AK294070.1 AK294250.1 AK295500.1 AK297690.1 AK302027.1 AK302138.1 AK313002.1 BC002394.2 
    BC004433.1 BC111068.1 U32680.1 

    Selected DOTS entries (see all 37):

    DT.87018129  DT.100867986  DT.95239976  DT.100831826  DT.95368403  DT.100868011  DT.92457282  DT.95368415 
    DT.92457287  DT.92457300  DT.97860083  DT.100868007  DT.100868000  DT.120696604  DT.120696706  DT.92457289 
    DT.92457297  DT.100868006  DT.120696247  DT.100844156  DT.120695125  DT.91867272  DT.100868014  DT.102843670 

    Selected AceView cDNA sequences (see all 260):

    BI761771 BQ067057 AL536863 CA444377 BM726882 CR613621 AL555221 AU121777 
    CR605499 BM923971 BI490061 AK090709 T08995 BM795168 BG696720 BU150620 
    CR597053 AF077971 CR601899 AU099671 BX393642 AI355261 BU619787 CB117283 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLN3 (see all 25)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^
    SP1:                                -     -     -     -     -                             -                                                     -               
    SP2:                                                                                      -                                                     -               
    SP3:                                                                                      -                       -                             -               
    SP4:                                                                                      -                                                     -               
    SP5:                                                                                      -                                                     -               

    ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c · 19d · 19e
    SP1:        -                                                                           
    SP2:        -                                                                           
    SP3:        -                                                                           
    SP4:        -                                                                           
    SP5:              -     -                                                               


    ECgene alternative splicing isoforms for CLN3

    (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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    CLN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCTGAAT
    CLN3 Expression
    About this image

    CLN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534667
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLN3: 
              GABA & Glutamate in human mouse rat
              Autophagy in human mouse rat
              Prostate Cancer in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CLN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3

    (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 animals and fungi.

    Orthologs for CLN3 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cln31 , 5 ceroid lipofuscinosis, neuronal 3, juvenile (Batten, more1, 5 82.91(n)1
    86.04(a)1
      7 (69.16 cM)5
    127521  NM_009907.31  NP_034037.31 
     1265712075 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    GL343287.1(735505-750833)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152912 Xenopus laevis transcribed sequence with weak similarity more 76.05(n)    48012878 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.31672 Transcribed sequence with weak similarity to protein more 72.42(n)    57057328 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55823
    cln31
    cln31 40(a)3
    52.67(n)1
    46.26(a)1
      75A43
    399811  NM_140754.21  NP_649011.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cln-3.13
    cln-3.21
    Human CLN3 protein like3
    cln-3.21
    40(a)
    (best of 3)3
    48.94(n)1
    45.8(a)1
      V(11266193-11268210)3
    1721711  NM_059155.61  NP_491556.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YHC3(YJL059W)4
    YHC31
    Vacuolar membrane protein involved in the ATP-dependent more4
    YHC31
    46.35(n)1
    44.32(a)1
      10(324964-326190)4
    8533871, 4  NP_012476.11, 4 


    ENSEMBL Gene Tree for CLN3 (if available)
    TreeFam Gene Tree for CLN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLN3 gene
    ENSG000002618322  

    CLN3 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), 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 CLN3 (see all 538)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0051344
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051342 V F mis40--------
    VAR_0051324
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051322 L P mis40--------
    VAR_0051314
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051312 L P mis40--------
    VAR_0051354
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051352 R C mis40--------
    VAR_0668944
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668942 G R mis40--------
    VAR_0668934
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668932 G A mis40--------
    VAR_0051364
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051362 R H mis40--------
    VAR_0051334
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051332 E K mis40--------
    VAR_0668924
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668922 C R mis40--------
    rs1386653621,2
    C--26531542(+) TGGCT-/GGGTGGC 1 -- us2k10--------
    rs1171216321,2
    C--26531544(+) GGCTGG/TGGCTT 1 -- us2k10--------
    rs599620051,2
    C--28499362(+) TATAT-/AT/TA 
            
    TTTGA
    2 -- int10--------
    rs28574071,2
    C,F--28501782(-) TTTTTT/AAATTT 2 -- int1 trp32Minor allele frequency- A:0.50NA 4
    rs667634061,2
    C--28503638(-) AAAGG-/AGCTGA
            
    AGCCT
    4 -- us2k1 cds11Minor allele frequency- AGCTGA:0.00NA 2
    rs798429251,2
    C,F--29382162(+) GCATGA/GATGAA 2 -- ds50011Minor allele frequency- G:0.14WA 118
    rs1811951,2
    C,F--29382390(-) gcaatT/Actcct 2 -- ds50019Minor allele frequency- A:0.30NA EA 282
    rs1454577071,2
    --29382422(+) GCAGTA/GAGCCA 2 -- ds50010--------
    rs746889221,2
    C,F--29382454(+) GCCTAC/GGTGAC 2 -- ds50011Minor allele frequency- G:0.00WA 2
    rs1883795571,2
    --29382508(+) ACAAAA/CAAGGG 2 -- ds50010--------
    rs1408076771,2
    C--29382528(+) CTGACA/GTACCT 2 -- ds50010--------
    rs1497812741,2
    --29382609(+) AAAAAC/TGATAT 2 -- ds50010--------
    rs10649121,2
    C--29382648(-) GCCTTC/TTGAAT 2 -- ut312Minor allele frequency- T:0.00NA 4
    rs1131127661,2
    C,F--29382703(+) CCCCCG/TGCAAG 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1456983261,2
    --29382709(+) GCAAGA/GGAAAC 2 -- ut310--------
    rs1846629461,2
    --29382714(+) GGAAAC/TAAGGC 2 -- ut310--------
    rs1138452991,2
    C,F--29382759(+) GGCTGG/AGAGCA 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1429586391,2
    --29382800(+) GGGTGG/TCTGAC 2 -- ut310--------
    rs1999792071,2
    F--29382803(+) TGTCTG/TACCTG 2 -- ut311Minor allele frequency- T:0.01EU 1085
    rs2016855011,2
    C--29382832(+) AATGTG/TACCTG 2 -- ut310--------
    rs1169855671,2
    C--29382855(+) CCCGAG/TTATCA 2 -- ut311Minor allele frequency- T:0.01EA 120
    rs2007193111,2
    --29382906(+) AGCCCC/TGACAG 4 S syn10--------
    rs10648861,2
    C--29382933(-) TGCATC/TTCTGA 4 I syn1 ese32Minor allele frequency- T:0.00NA 4
    rs1461246861,2
    F--29382935(+) AGAGAT/CGCAGG 4 /I /V mis11Minor allele frequency- C:0.00NA 4522
    rs2012062391,2
    C--29382945(+) GTGGCC/TGCCAT 4 A syn11Minor allele frequency- T:0.00EU 1323
    rs775951561,2
    C,F--29382964(+) CCCGGT/CGCTCA 4 /H /R mis17Minor allele frequency- C:0.10CSA WA NA EA EU 6167
    rs1466101811,2
    C,F--29382965(+) CCGGTG/TCTCAT 4 N H mis12Minor allele frequency- T:0.01NA EU 5835
    rs3701032871,2
    C--29383066(+) TGCCCA/GGCCAA 2 -- int10--------
    rs1894985011,2
    C--29383230(+) AACAGA/GGGGAG 2 -- int10--------
    rs1481461391,2
    C--29383240(+) AGGCT-/AAAGCC 2 -- int10--------
    rs2001362471,2
    --29383258(+) AGGGCA/GGGGCA 2 -- int10--------
    rs740168151,2
    C--29383274(+) GGAGAG/AGTGGC 2 -- int12Minor allele frequency- A:0.10WA 120
    rs283745191,2
    C,F--29383363(+) AGCCCG/AGTGTG 2 -- int15Minor allele frequency- A:0.43NA WA EA 362
    rs348391,2
    C,F--29383367(-) ccaccA/Gcaccg 2 -- int110Minor allele frequency- G:0.35NA WA CSA EA 255
    rs1807601031,2
    --29383509(+) TATCTA/GGGTGT 2 -- int10--------
    rs1837394651,2
    --29383511(+) TCTGGA/GTGTAG 2 -- int10--------
    rs1897088041,2
    --29383514(+) GGGTGC/TAGTGG 2 -- int10--------
    rs1413263771,2
    C--29383521(+) GTGGTC/TCTGTA 2 -- int10--------
    rs1813503871,2
    C--29383770(+) CTGGGC/TAACAT 2 -- int10--------
    rs1451066281,2
    --29383934(+) GCCTGG/TGTGAC 2 -- int10--------
    rs25204251,2
    C--29384003(-) CTTCCT/CTTAAG 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1379588681,2
    C--29384053(+) TTGGCA/GTTTGG 2 -- int10--------
    rs1407675891,2
    --29384132(+) TGCCCA/GCTAGA 2 -- int10--------
    rs1500944431,2
    --29384144(+) GCCCAC/TAGCAT 2 -- int10--------
    rs1463394191,2
    C--29384220(+) GCCCC-/TATTGG 2 -- int10--------
    rs1867823021,2
    C--29384221(+) CCCCTA/GTTGGA 2 -- int10--------
    rs1126855171,2
    C,F--29384460(+) CCAGCC/ACTGAC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1511811,2
    C,F,H--29384538(-) CAGGCA/GATTCT 2 -- int126Minor allele frequency- G:0.21MN NS EA NA CSA WA 2958
    rs1148876811,2
    C,F--29384925(+) ACTCTG/ATCTCT 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1381158411,2
    --29385096(+) ACAGAA/GCGAGA 2 -- int10--------
    rs1916191921,2
    --29385234(+) ACAAAC/TCCTGG 2 -- int10--------
    rs26503681,2
    C,H--29385298(-) TATGGC/AAAAAG 2 -- int12Minor allele frequency- A:0.01NS NA 174
    rs25204241,2
    C--29385328(-) atctcA/Caaaaa 2 -- int1 trp31Minor allele frequency- C:0.00NA 2
    rs1436719131,2
    --29385348(+) CCCAGA/GCTGGG 2 -- int10--------
    rs1471889581,2
    C--29385426(+) GCCTCC/TCGAGT 2 -- int10--------
    rs1817333901,2
    --29385493(+) GGTCTC/TGTGAT 2 -- int10--------
    rs1394574311,2
    C--29385555(+) TTTTT-/TAATTT 2 -- int10--------
    rs25204191,2
    C--29385723(-) ATAGCA/CAAATA 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1864325841,2
    --29385740(+) ATTGAA/GTTCCT 2 -- int10--------
    rs1911557191,2
    --29385815(+) TCGGCC/TCACTG 2 -- int10--------
    rs1174817651,2
    C,F--29386327(+) TAAAAG/TAACTG 2 -- int12Minor allele frequency- T:0.05NA EA 240
    rs1822471051,2
    --29386354(+) TAGAAA/GCATTA 2 -- int10--------
    rs1876588681,2
    --29386442(+) GGTTCC/TGACTT 2 -- int10--------
    rs1487514271,2
    C--29386484(+) GGTCTC/TGCTCT 2 -- int10--------
    rs1513031,2
    C,F--29386531(+) tactgC/Aagcct 2 -- int17Minor allele frequency- A:0.19NA CSA WA EA 366
    rs1414536921,2
    --29386569(+) CACCTC/TAGCTT 2 -- int10--------
    rs1913221051,2
    --29386711(+) GTGCTA/GGGATT 2 -- int10--------
    rs1443663141,2
    C--29386763(+) AACAC-/ACAT  
            
    ACACA
    2 -- int10--------
    rs1811971,2
    F--29386796(-) gtgtgC/Tgtgtg 2 -- int13Minor allele frequency- T:0.33NA CSA 6
    rs3744204051,2
    C--29386797(+) ACACG-/CACA  
            
    CACAC
    2 -- int10--------
    rs616634661,2
    C,F--29386798(+) CACGCG/ACACAC 2 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs1401759391,2
    C--29386988(+) GCTTGA/GCTCCT 2 -- int10--------
    rs1830323841,2
    --29387202(+) CGGGCA/GCCTGT 2 -- int10--------
    rs1438334071,2
    --29387307(+) CTGGAC/TGACAG 2 -- int10--------
    rs2014076011,2
    C--29387476(+) GAAACA/GGATGC 4 R C mis10--------
    rs2012713411,2
    --29387481(+) GGATGC/TGACAG 4 H R mis10--------
    rs2000239081,2
    C--29387556(+) GGTTGC/GGGGGA 2 -- int10--------
    rs2019457801,2
    --29387575(+) GGCTCC/TTCCAG 2 -- int10--------
    rs2014579901,2
    --29387633(+) ACCACA/GGCGCC 2 -- int10--------
    rs2003280921,2
    C--29387756(+) TGGACA/GGGGCT 2 -- int10--------
    rs1998025421,2
    C--29387780(+) CCCCAA/GTCGCC 2 -- int10--------
    rs2010905011,2
    --29387875(+) AATGTA/GCCACA 4 H Y mis10--------
    rs455424321,2
    C,F--29387912(+) TAAGCG/AGGGGG 2 -- int11Minor allele frequency- A:0.00EU 1299
    rs1468397711,2
    C--29387922(+) GCCTGC/GAGGTG 2 -- int10--------
    rs11421831,2
    C--29387974(-) ACAGTG/ATTCAA 4 /V syn13Minor allele frequency- A:0.20NA CSA 5
    rs3692934771,2
    C--29388081(+) GCACCA/GGTATG 2 -- int10--------
    rs1113516691,2
    C,F--29388126(+) CACTTC/ACATGC 2 -- int12Minor allele frequency- A:0.02CSA WA 120
    rs1928933761,2
    --29388172(+) TGGGCA/GCAGTG 2 -- int10--------
    rs348381,2
    C,F--29388371(-) cctccC/Tgggtt 2 -- int15Minor allele frequency- T:0.36NA CSA 11
    rs428611,2
    C,F--29388442(-) tgaggC/Tggagt 2 -- int15Minor allele frequency- T:0.33NA CSA 9
    rs348371,2
    C,F,H--29388495(-) gtataT/Gtactt 2 -- int116Minor allele frequency- G:0.06NS EA NA WA 2220
    rs1844269571,2
    --29388550(+) TTCACA/GTCTCT 2 -- int10--------
    rs28574201,2
    F--29388625(-) gattgC/G/Taccac 2 -- int10--------
    rs1511453561,2
    C--29388632(+) AATCTC/TAGCTC 2 -- int10--------
    rs1469289501,2
    C--29388673(+) ATTCTC/TGTGCC 2 -- int10--------
    rs1925588161,2
    --29388781(+) CTGGTC/TTCAAA 2 -- int10--------
    rs348361,2
    C,F--29388844(-) gttcaC/Tacctg 2 -- int15Minor allele frequency- T:0.50NA CSA 10
    rs1835237591,2
    --29388898(+) CATTGG/TCCCAC 2 -- int10--------
    rs1127469971,2
    C,F--29389180(+) CAGGCA/GTGAGC 2 -- int11Minor allele frequency- G:0.33CSA 3
    rs2007317691,2
    --29389332(+) CTGAGG/TGTCTG 2 -- int10--------
    rs1996277441,2
    --29389356(+) GCTTCA/GACTCC 4 S L mis10--------
    rs1378588071,2
    F--29389362(+) ACTCCG/AGGGCC 4 /P /L mis11Minor allele frequency- A:0.00NA 4284
    rs735334661,2
    C,F--29389367(+) GGGGCC/TTCGGT 4 E syn12Minor allele frequency- T:0.01WA NA 4350
    rs1459674771,2
    C,F--29389370(+) GCCTCG/AGTTCT 4 /T syn12Minor allele frequency- A:0.00NA EU 4999
    rs1511821,2
    C,F--29389773(+) gcagcC/Tgcgac 2 -- int110Minor allele frequency- T:0.22EA NA 304
    rs1891881521,2
    --29389774(+) CAGCCA/GCGACC 2 -- int10--------
    rs1428043081,2
    C--29389796(+) AGCAAA/TCCTCC 2 -- int10--------
    rs1460548171,2
    --29389848(+) ACCAAA/GCCCGC 2 -- int10--------
    rs1811245451,2
    C--29389851(+) AAGCCC/TGCCTC 2 -- int10--------
    rs1133543531,2
    C,F--29389895(+) CTATGT/CTGCCC 2 -- int12Minor allele frequency- C:0.05CSA WA 120
    rs766625161,2
    C,F--29390035(+) AGTTCT/CGTTTT 2 -- int11Minor allele frequency- C:0.03NA 120
    rs1401945991,2
    --29390065(+) TGGTCA/GCTCTA 2 -- int10--------
    rs1847178311,2
    --29390184(+) TATATA/TTTTTT 2 -- int10--------
    rs286957921,2
    C,F,H--29390292(+) TGTGTG/TTTTTT 2 -- int16Minor allele frequency- T:0.01EA NS NA 608
    rs1438693511,2
    --29390411(+) CCTCCC/TAAGTA 2 -- int10--------
    rs1903596001,2
    C--29390588(+) CCAAAA/GTGTTT 2 -- int10--------
    rs1175637681,2
    C,F--29390590(+) AAAGTG/ATTTTG 2 -- int11Minor allele frequency- A:0.01EA 120
    rs1468524581,2
    C--29390909(+) ACTCCA/GTCTCA 2 -- int10--------
    rs1513011,2
    C,F--29391080(-) GAAGTA/TGGATG 2 -- int18Minor allele frequency- T:0.20NA CSA WA EA 368
    rs1393374401,2
    --29391317(+) AATCAA/TAATCA 2 -- int10--------
    rs1815354591,2
    --29391327(+) AAGTTA/TTCTTT 2 -- int10--------
    rs1862338411,2
    --29391382(+) TCGCCC/TGGGCT 2 -- int10--------
    rs1893406591,2
    --29391432(+) CCTCCA/GGGGTT 2 -- int10--------
    rs1496932771,2
    C--29391488(+) GCACCC/TGCCAC 2 -- int10--------
    rs566953281,2
    C,F--29391542(+) ACCATC/GTTGGC 2 -- int11Minor allele frequency- G:0.00WA 2
    rs2010364591,2
    --29391639(+) ATGGCC/TAAGTT 2 -- int10--------
    rs2005030551,2
    C--29391671(+) CCTCCC/TGGCTC 2 -- int11Minor allele frequency- T:0.00EU 1223
    rs1394178241,2
    C--29391740(+) GCTGAG/AGGGAG 4 /P /L mis11Minor allele frequency- A:0.00NA 4266
    rs2022156291,2
    --29391828(+) GATCAC/TGGCCC 4 M V mis10--------
    rs1476679641,2
    F--29391829(+) ATCACG/AGCCCT 4 /A syn11Minor allele frequency- A:0.00NA 4338
    rs1488467951,2
    C--29391937(+) GCAGTA/GAGGGA 4 L syn10--------
    rs1819953801,2
    C--29391995(+) CACCTG/TGGGGG 2 -- int10--------
    rs1859117811,2
    --29392284(+) GTCTCC/GCCCTG 2 -- int10--------
    rs802168691,2
    C--29392313(+) AGTGGA/CGTGAT 2 -- int10--------
    rs1475551301,2
    --29392435(+) TTTGGC/TAGAGA 2 -- int10--------
    rs1907334131,2
    --29392673(+) ATAGCC/TCTAGC 2 -- int10--------
    rs1422905831,2
    C--29392763(+) TCCTCA/GGGGCT 2 -- int10--------
    rs1447704501,2
    C--29392866(+) TCCCAC/TTGACG 4 N S mis11Minor allele frequency- T:0.00NA 4522
    rs2011689801,2
    --29392879(+) AACCCA/GGGGGC 4 R W mis10--------
    rs1460766171,2
    C--29392883(+) CGGGGA/GCTGAG 4 S syn10--------
    rs1830274831,2
    C--29392927(+) CTCTAC/TTCTCA 2 -- int10--------
    rs2003562621,2
    --29393039(+) GCCAAC/TAATTT 4 L syn10--------
    rs1482481591,2
    C,F--29393060(+) GTGGGG/AAGGAT 4 /L syn11Minor allele frequency- A:0.00NA 4518
    rs115525311,2
    C,F,H--29393065(-) CGGACA/GTCCTC 4 I V mis110Minor allele frequency- G:0.00EA NS NA EU 6345
    rs790773291,2
    C,F--29393142(+) AACCAC/TGTGGC 2 -- int11Minor allele frequency- T:0.03NA 120
    rs284524761,2
    C,F--29393210(+) GGCACG/ACCTGG 2 -- int14Minor allele frequency- A:0.02NA WA 128
    rs348351,2
    C,F,A,H--29393312(-) CTAGGT/CGCTAT 2 -- int124Minor allele frequency- C:0.26NS EA NA WA CSA 3804
    rs1862557711,2
    --29393378(+) ACTCAC/GAAACT 2 -- int10--------
    rs3702067171,2
    C--29393382(+) GAAAC-/TATATAT 2 -- int10--------
    rs1902376051,2
    --29393385(+) AACTAC/TATATA 2 -- int10--------
    rs1827594291,2
    --29393421(+) TCTGCC/TACCCA 2 -- int10--------
    rs1412946201,2
    --29393647(+) GAAATC/TATATT 2 -- int10--------
    rs1492811,2
    C,F--29393668(-) ATATAT/AAATAA 2 -- int110Minor allele frequency- A:0.07NA WA CSA EA 377
    rs1874499501,2
    --29393678(+) TATATA/TTATTT 2 -- int10--------
    rs1493011,2
    F--29393680(-) AAAAAT/AATATA 2 -- int12Minor allele frequency- A:0.25NA 4
    rs1492821,2
    C,F--29393697(-) CTTAAG/AGAAAA 2 -- int1 trp37Minor allele frequency- A:0.07WA NA CSA EA 369
    rs1455209621,2
    C,F--29393957(+) CAGTCA/GAATCG 4 F syn11Minor allele frequency- G:0.00NA 4552
    rs2013293581,2
    --29393977(+) GTTGTG/TGGGGA 4 N H mis10--------
    rs1379066171,2
    C,F--29393985(+) GGATCG/AGCGTT 4 /P /L mis12Minor allele frequency- A:0.00NA EU 5875
    rs1503480151,2
    C,F--29393989(+) CGGCGT/ATGGGC 4 /T /S mis11Minor allele frequency- A:0.00NA 4552
    rs1382367901,2
    C--29394032(+) TTCACC/TCTGGA 2 -- int10--------
    rs1428347231,2
    C--29394046(+) AGAGGA/GATAGA 2 -- int10--------
    rs1460658411,2
    C--29394070(+) GCTCCC/TGTCCC 2 -- int10--------
    rs1839251161,2
    --29394139(+) TCAGCA/GTCTCT 2 -- int10--------
    rs1892209451,2
    --29394142(+) GCGTCC/TCTGCA 2 -- int10--------
    rs1387929491,2
    --29394213(+) GGCCCG/TGTAAA 2 -- int10--------
    rs1923122921,2
    --29394491(+) CGCCCA/GCCTCA 2 -- int10--------
    rs2012259861,2
    C--29394632(+) CTTACA/GTGGCT 4 H syn10--------
    rs1384336171,2
    C,F--29394680(+) TGGGCG/AGCACT 4 /A syn11Minor allele frequency- A:0.00NA 4534
    rs1845976711,2
    --29394737(+) GAAGGA/GGCAGG 2 -- int10--------
    rs1422557001,2
    C--29394769(+) ATCCTA/GCAGCC 2 -- int10--------
    rs1895168331,2
    --29394807(+) CTTACC/GTGTGC 2 -- int10--------
    rs1448139991,2
    C--29394827(+) AGCCCA/CCTCTT 2 -- int10--------
    rs1485848151,2
    --29394939(+) AAATTA/TAAAAA 2 -- int10--------
    rs1918415821,2
    --29395174(+) CGGGCA/GGATCG 2 -- int10--------
    rs1429420121,2
    --29395315(+) AACCAC/TTTGAA 2 -- int10--------
    rs344436521,2
    C--29395410(-) TTTTTT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1844357771,2
    --29395477(+) CAAGTC/TTGTGA 2 -- int10--------
    rs1174889091,2
    C,F--29395505(+) CAGGGC/TGGGGC 2 -- int11Minor allele frequency- T:0.03NA 120
    rs1890958451,2
    --29395517(+) CGGTGC/GCTCAC 2 -- int10--------
    rs348341,2
    C,F--29395526(-) attacA/Gggcgt 2 -- int14Minor allele frequency- G:0.38NA WA CSA 8
    rs285025211,2
    C,F--29395553(+) GTGGAG/AGCAAG 2 -- int17Minor allele frequency- A:0.19NA CSA WA EA 365
    rs1817196421,2
    --29395874(+) GAGGCA/GGGCGG 2 -- int10--------
    rs1395819031,2
    C--29395974(+) GCAGGC/TGCCTG 2 -- int10--------
    rs1450968641,2
    --29396045(+) TGCAGA/TGAGCC 2 -- int10--------
    rs25213251,2
    C--29396231(+) catagT/Cgagac 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1475654921,2
    --29396290(+) CACCTG/TTAGCC 2 -- int10--------
    rs2017452071,2
    --29396417(+) AAAAG-/AAAAAA 2 -- int10--------
    rs1467018961,2
    C--29396431(+) ATAAG-/ATAAA 
            
    ATAAA
    2 -- int10--------
    rs1419179671,2
    --29396477(+) TGATGC/TATTTA 2 -- int10--------
    rs597720031,2
    C,F--29396510(+) GCTGGT/CTTTCC 2 -- int12Minor allele frequency- C:0.21CSA WA 120
    rs1442007871,2
    --29396740(+) TGCGCA/CGCTTA 2 -- int10--------
    rs1133170661,2
    C--29396775(+) GTCACC/TTCCCT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1488983021,2
    C--29396911(+) GGAGAA/GCGAGA 2 -- int10--------
    rs1995779771,2
    C--29396939(+) CCTACC/TCTCAG 2 -- int10--------
    rs1114040071,2
    C,F--29396962(+) TCCTTG/CCGTGT 2 -- int11Minor allele frequency- C:0.50NA 2
    rs285456281,2
    C,F--29396993(+) TCTCAT/CTCCCC 2 -- int13Minor allele frequency- C:0.20CSA WA 122
    rs2018246411,2
    C--29397057(+) TCACCC/TTCGGA 4 E syn11Minor allele frequency- T:0.00EU 909
    rs3740550751,2
    C--29397072(+) AAAAG-/CCGCCG 4 L R fra10--------
    rs1480259511,2
    --29397238(+) TAGGGC/TACTCG 2 -- ut51 int10--------
    rs286128351,2
    C,F,H--29397277(+) GGCTCC/TATCTC 2 -- int1 ut518Minor allele frequency- T:0.12NS NA WA 1010
    rs735334761,2
    C,F--29397390(+) GCACTA/TTGCAG 2 -- ut512Minor allele frequency- T:0.09WA 120
    rs1413052571,2
    C--29397414(+) GATCAC/GGTGAC 2 -- ut510--------
    rs1871635841,2
    --29397549(+) CCGCAC/GGTTTT 2 -- us2k1 ut510--------
    rs1908143091,2
    C--29397716(+) CTACTC/TCCTTT 2 -- us2k10--------
    rs26503661,2
    C--29397740(-) CTGCCT/CCaaaa 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1907386041,2
    C--29397762(+) GTTGCC/GAACAA 2 -- us2k10--------
    rs1807992501,2
    --29397877(+) TCTATC/TGGCAG 2 -- us2k10--------
    rs1450330461,2
    C--29397920(+) ATTATC/GCTAGA 2 -- us2k10--------
    rs1387979831,2
    C--29397986(+) TACAA-/ATATATA 2 -- us2k10--------
    rs346653541,2
    C--29398005(-) TTGTTAT/-ATATA 2 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1388143681,2
    --29398195(+) AAAAAA/TATATA 2 -- us2k10--------
    rs277411,2
    C,F,A,H--29398202(-) ATATAC/TATATA 2 -- us2k119Minor allele frequency- T:0.37NS EA NA WA CSA 2338
    rs1861415571,2
    --29398259(+) CTAAAA/GGTGAC 2 -- us2k10--------
    rs1419921861,2
    C--29398305(+) CAGAGA/GCAGGG 2 -- us2k10--------
    rs1899933551,2
    --29398328(+) GGCTCA/CAGGCT 2 -- us2k10--------
    rs277431,2
    C--29398340(+) CTGCAG/AGATTC 2 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1825352391,2
    --29398499(+) CTCCCA/GAGTAG 2 -- us2k10--------
    rs765963651,2
    C--29398757(+) CTGGGA/GAGGGG 2 -- us2k10--------
    rs1857086021,2
    --29398856(+) AAAGCA/GGCATC 2 -- us2k10--------
    rs1508219491,2
    --29398939(+) CCAGGA/CCTTCA 2 -- us2k10--------
    rs1904654921,2
    --29399209(+) GACTGC/TGCCAC 2 -- us2k10--------
    rs1116017561,2
    C--29399272(+) AAAAG-/AAAA/A
    AAAGAAAA
    AAAAG
    4 -- us2k1 cds11CSA 2
    rs1383437761,2
    --29399341(+) ACTAAC/TGTGCA 2 -- us2k10--------
    rs1838526711,2
    --29399367(+) AGCAGC/TGTTTC 2 -- us2k10--------
    rs283711161,2
    C,F,H--29399431(+) ATATCC/TACAAT 1 -- us2k1 ese35Minor allele frequency- T:0.01NS NA 508
    rs762980341,2
    C,F--29399513(+) CGGCCC/TCTTCC 1 -- us2k11Minor allele frequency- T:0.14WA 118
    rs1443460301,2
    C--29399518(+) CCTTCC/TGCCCC 1 -- us2k10--------
    rs1408796311,2
    --29399523(+) CGCCCC/GTGGGG 1 -- us2k10--------
    rs1451377921,2
    C--29399559(+) TCAGAG/TCTCCC 1 -- us2k10--------
    rs3868337251,2
    ----29391968(-) CTCATC/GAGGCC 4 S * stg10--------
    rs3700336601,2
    ----29392925(+) GTCTCC/TACTCT 2 -- int10--------
    rs25204271,2
    ----29382503(-) TtttgA/Tttgtt 2 -- ds50010--------
    rs3710031881,2
    ----29393868(+) GGGCTA/GGGAGT 2 -- int10--------
    rs3868337301,2
    ----29391806(-) CTCAGC/GGACTG 4 A G mis10--------
    rs767750431,2
    ----29395805(+) ATTAAT/AAAAAA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs3730196021,2
    ----29390524(+) TCGTGG/TTGCGC 2 -- int10--------
    rs1501207971,2
    ----29394674(+) ATGTCG/ATGGGC 4 /H syn11Minor allele frequency- A:0.00NA 4540
    rs3685428131,2
    ----29397191(+) GGTGAC/TAAGGA 2 -- ut51 int10--------
    rs1131126871,2
    ----29389964(+) TGGGAG/TTACAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1875351,2
    ----29382236(-) ctcccA/Caagtg 2 -- ds50011Minor allele frequency- C:0.00NA 2
    rs3729143211,2
    ----29395911(+) TCCTGA/GTAACG 2 -- int10--------
    rs25204161,2
    ----29387329(-) tttttG/Tgagac 2 -- int1 trp30--------
    rs3702589061,2
    ----29388057(+) TCACAC/GTGAAG 2 -- int10--------
    rs1501744731,2
    ----29387528(+) TGGTAC/TAGCAT 4 L syn11Minor allele frequency- T:0.00NA 4398
    rs3761607901,2
    ----29391902(+) CACTCC/TCTGCT 2 -- int10--------
    rs3868337141,2
    ----29393076(-) TGTGCC/TCCTGG 4 P L mis10--------
    rs3868337311,2
    ----29391801(-) GGACTC/GGGGGA 4 R G mis10--------
    rs1386369231,2
    ----29387672(+) ACCAGC/TGGTAT 4 H R mis11Minor allele frequency- T:0.00NA 4536
    rs25487681,2
    ----29390308(-) tccgtC/Ttaaaa 2 -- int10--------
    rs1490950621,2
    ----29393059(+) TGTGGG/AGAGGA 4 /P /S mis11Minor allele frequency- A:0.00NA 4518
    rs3682015431,2
    ----28490916(+) CAAAA-/CAAAA 
            
    AATTT
    2 -- int10--------
    rs38345581,2
    ----29399335(-) TTAGT-/TAGT  
            
    AGGAT
    2 -- us2k10--------
    rs3868337091,2
    ----29394640(-) GAAACC/TAGAGC 4 Q * stg10--------
    rs3742159251,2
    ----29383642(+) ACTCCA/GTCCCA 2 -- int10--------
    rs3767520641,2
    ----29391168(+) GAGATA/GGGGGA 2 -- int10--------
    rs3775291561,2
    ----29393514(+) AGTAGC/TGGGAT 2 -- int10--------
    rs778119811,2
    ----29389057(+) TTTCTC/TTTTTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs3709995181,2
    ----29382622(+) GAAGTA/CATGGA 2 -- ut310--------
    rs1453406371,2
    ----29383118(+) GCTGCG/ACCTCC 4 /G syn11Minor allele frequency- A:0.00NA 4542
    rs25213261,2
    ----29397865(+) TTTCGG/TGAATG 2 -- us2k10--------
    rs28574061,2
    ----29383879(-) ctaggG/Ttcaag 2 -- int10--------
    rs3681138371,2
    ----29387731(+) TGCAAC/GAAATA 2 -- int10--------
    rs1166972891,2
    ----26531547(+) TGTGGC/GTTGTA 1 -- us2k10--------
    rs3729166911,2
    ----29386345(+) TCTTAC/TGTTAG 2 -- int10--------
    rs1457498641,2
    ----29393020(+) CAGGTG/TAAGGC 4 N H mis11Minor allele frequency- T:0.00NA 4508
    rs286926301,2
    ----29383884(+) ACCTAA/GGAGGT 2 -- int10--------
    rs3868337381,2
    ----29389345(-) CAGGTA/CGGAGA 2 -- int10--------
    rs3690087021,2
    ----29387857(+) AACTAC/TGACCA 4 I V mis10--------
    rs3738758601,2
    ----28494127(+) ACACT-/AAAAAT 2 -- int10--------
    rs28574111,2
    ----29397761(-) TGTTCC/GCAACC 2 -- us2k10--------
    rs356384981,2
    ----29383955(-) TATGAA/GACAGG 2 -- int10--------
    rs3868337421,2
    ----29387541(-) CCTCAG/TGTACC 2 -- spa10--------
    rs1119180991,2
    ----29384385(+) GAAGCC/TTCTTC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs3868337111,2
    ----29394627(-) TGTAAC/GTGACT 2 -- int10--------
    rs3734477691,2
    ----29392042(+) ACACTA/GCCCAG 2 -- int10--------
    rs721943641,2
    ----29397997(+) TATAT-/TAATATA 2 -- us2k10--------
    rs3770148251,2
    ----29392910(+) GGAGGC/GGGAAG 2 -- int10--------
    rs3868337201,2
    ----29392834(-) TCCTG-/GTTGCC 4 L V fra10--------
    rs3764783631,2
    ----29383157(+) AAGACA/GAGGTA 4 L syn10--------
    rs3868337121,2
    ----29393993(-) CCAGG-/GCCCAA 4 T N fra10--------
    rs3738038911,2
    ----29393906(+) TCAGGA/CAAGGA 2 -- int10--------
    rs3679453071,2
    ----29393936(+) ACAGCC/TGTAGA 4 T syn10--------
    rs3749699381,2
    ----29385225(+) TTTGTA/GGGTAC 2 -- int10--------
    rs284572711,2
    ----29383857(+) GGAGTC/TTGAGA 2 -- int10--------
    rs559635881,2
    ----29386795(+) CACAC-/ACGCACA 2 -- int10--------
    rs3704966241,2
    ----29399178(+) AACCCA/GGGAGG 2 -- us2k10--------
    rs3705614571,2
    ----29396915(+) AGCGAC/GAAGAG 2 -- int10--------
    rs3701581851,2
    ----29389478(+) TGAAGG/TCAGGG 2 -- int10--------
    rs3752470821,2
    ----29398241(+) ATTCAC/TCAATG 2 -- us2k10--------
    rs3868337061,2
    ----29382907(-) CCTGTA/CGGGGC 4 * S stg10--------
    rs3758330951,2
    ----29391863(+) CAGGAA/GGACCT 2 -- int10--------
    rs3734904791,2
    ----29386796(+) ACACG-/CACACAC 2 -- int10--------
    rs1214342861,2
    --pathogenic129387842(-) TTGCCA/G/TAGTAT 6 K E * mis1 stg10--------
    rs285467061,2
    ----29385142(+) TATAGC/TTAAAA 2 -- int10--------
    rs3700204521,2
    ----29393983(+) GGGGAA/TCGGCG 4 I F mis10--------
    rs3868337281,2
    ----29391919(-) CCCAGA/C/GTAAGC 4 -- spd10--------
    rs3868337231,2
    ----29391981(-) TCTTCC/GCTAGC 4 P A mis10--------
    rs3686791961,2
    ----29390834(+) GAGCCC/TGGAGG 2 -- int10--------
    rs25204181,2
    ----29386290(-) TGGTGA/GCTTTG 2 -- int10--------
    rs140409296