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ASCL1 Gene

protein-coding   GIFtS: 59
GCID: GC12P103352

Achaete-Scute Family BHLH Transcription Factor 1

(Previous names: achaete-scute complex (Drosophila) homolog-like 1, achaete-scute...)
  See ASCL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Achaete-Scute Family BHLH Transcription Factor 11 2     Achaete-Scute Complex-Like 1 (Drosophila)1
ASH12 3 5     MASH12
Class A Basic Helix-Loop-Helix Protein 462 3     Achaete Scute Protein2
ASH-12 3     Achaete-Scute Complex Homolog 12
HASH12 3     Achaete-Scute Complex-Like 12
bHLHa462 3     Achaete-Scute Homolog 12
Achaete-Scute Complex (Drosophila) Homolog-Like 11     BHLHA463
Achaete-Scute Complex Homolog 1 (Drosophila)1     hASH13

External Ids:    HGNC: 7381   Entrez Gene: 4292   Ensembl: ENSG000001393527   OMIM: 1007905   UniProtKB: P505533   

Export aliases for ASCL1 gene to outside databases

Previous GC identifers: GC12P102450 GC12P103310 GC12P101854 GC12P101855 GC12P101856 GC12P101875 GC12P100410


(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 ASCL1 Gene:
This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein
activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required
for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the
generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central
hypoventilation syndrome (CCHS) phenotype in rare cases. (provided by RefSeq, Jul 2008)

GeneCards Summary for ASCL1 Gene:
ASCL1 (achaete-scute family bHLH transcription factor 1) is a protein-coding gene. Diseases associated with ASCL1 include congenital central hypoventilation syndrome, and differentiating neuroblastoma. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ASCL3.

UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553
Function: Transcriptional regulator. May play a role at early stages of development of specific neural lineages in
most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and
autonomic neurons. Involved in the initiation of neuronal differentiation. Mediates transcription activation by
binding to the E box (5'-CANNTG-3')

Gene Wiki entry for ASCL1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the ASCL1 gene promoter:
         GATA-3   Sp1   NRSF form 1   ZID   NRSF form 2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASCL1 promoter sequence
   Search Chromatin IP Primers for ASCL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASCL1


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

Entrez Gene cytogenetic band: 12q23.2   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q22-q23

ASCL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASCL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P103352:  view genomic region     (about GC identifiers)

Start:
103,351,452 bp from pter      End:
103,354,294 bp from pter
Size:
2,843 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553 (See protein sequence)
Recommended Name: Achaete-scute homolog 1  
Size: 236 amino acids; 25454 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3
Secondary accessions: A8K3C4 Q9BQ30

Explore the universe of human proteins at neXtProt for ASCL1: NX_P50553

Explore proteomics data for ASCL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ASCL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004307.2  
    ENSEMBL proteins: 
     ENSP00000266744  

    ASCL1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ASCL1

     
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    antibodies-online proteins for ASCL1 (5 products) 

     
    antibodies-online peptides for ASCL1

    ASCL1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for ASCL1
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    antibodies-online kits for ASCL1 (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    2 InterPro protein domains:
     IPR015660 ASH
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry P50553

    ProtoNet protein and cluster: P50553

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with ASCL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASCL1_HUMAN, P50553
    Function: Transcriptional regulator. May play a role at early stages of development of specific neural lineages in
    most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and
    autonomic neurons. Involved in the initiation of neuronal differentiation. Mediates transcription activation by
    binding to the E box (5'-CANNTG-3')

         Genatlas biochemistry entry for ASCL1:
    Drosophila achaete-scute homolog 1,downregulated in differentiating neuroblastoma cells

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000989transcription factor binding transcription factor activity ISS--
    GO:0003677DNA binding ISS--
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA10903890
    GO:0005515protein binding IPI10903890
         
    Find genes that share ontologies with ASCL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ASCL1:
     Increased number of cells in m 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ascl1):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     integument  mortality/aging  nervous system  no phenotypic analysis  normal 
     pigmentation  respiratory system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with ASCL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ascl1tm1And for ASCL1

       genOway: Develop your customized and physiologically relevant rodent model for ASCL1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ASCL1 (see all 62):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-548k hsa-miR-1258 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidASCL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ASCL1
    Predesigned siRNA for gene silencing in human, mouse, rat ASCL1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ASCL1

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ASCL1 (NM_004316)
    Sino Biological Human cDNA Clone for ASCL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASCL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASCL1
    Addgene plasmids for ASCL1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCL1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11908 VA6-13986) for ASCL1 


    (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
    ASCL1_HUMAN, P50553: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12858003
    GO:0043025neuronal cell body IEA--

    Find genes that share ontologies with ASCL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ASCL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4Notch-mediated HES/HEY network
    Notch-mediated HES/HEY network
    5Neural Crest Differentiation
    Neural Crest Differentiation


    4 BioSystems Pathways for ASCL1
        SIDS Susceptibility Pathways
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Notch-mediated HES/HEY network



        Pathway & Disease-focused RT2 Profiler PCR Array including ASCL1: 
              Neurogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ASCL1

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

    Selected Interacting proteins for ASCL1 (P505531, 3 ENSP000002667444) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCF3P159231, 3, ENSP000002629654EBI-957042,EBI-769630 I2D: score=2 STRING: ENSP00000262965
    TCF4P158841, 3, ENSP000003464404EBI-957042,EBI-533224 I2D: score=4 STRING: ENSP00000346440
    HES5Q5TA893, ENSP000003677144I2D: score=1 STRING: ENSP00000367714
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
    BMP2P126433, ENSP000003681044I2D: score=1 STRING: ENSP00000368104
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 60):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0003358noradrenergic neuron development ISS--
    GO:0003359noradrenergic neuron fate commitment IMP14532329
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----

    Find genes that share ontologies with ASCL1           About GenesLikeMe



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

    Browse Tocris compounds for ASCL1

    6 Novoseek inferred chemical compound relationships for ASCL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lithium chloride 34.7 3 17263970 (1), 17363508 (1)
    retinoic acid 24.5 14 17728141 (4), 11464865 (2), 19885044 (1), 11414696 (1)
    lysine 0 4 10430036 (1), 15031712 (1)
    phenylalanine 0 1 8595908 (1)
    tyrosine 0 1 17034791 (1)
    dopamine 0 9 16723737 (4), 17034791 (2)



    Find genes that share compounds with ASCL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ASCL1 gene: 
    NM_004316.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266744(uc001tjr.4)
    miRNA
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    Block miRNA regulation of human, mouse, rat ASCL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASCL1 (see all 62):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-548k hsa-miR-1258 hsa-let-7a-2*
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    Inhib. RNA
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    Selected AceView cDNA sequences (see all 140):

    BM715329 BC031299 AW149352 AI934490 BM021413 BC002341 BF433583 AW249707 
    AW005359 CR615179 AW131798 AW246655 AI279866 AI885738 AW248896 AW139639 
    BM677526 BU742375 AI869311 AW131522 AW131575 BM696219 BC003134 AW166088 

    GeneLoc Exon Structure


    (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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    ASCL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGGCTCGC
    ASCL1 Expression
    About this image


    ASCL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             d3 Neural Progenitor Cells dP3 Neural Domain
             Epithalamus
             Oligodendrocyte-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 12 entries
             d3 Neural Progenitor Cells dP3 Neural Domain
             Metencephalon
             Lateral Ganglionic Eminence progenitors
     
     Oligodendrocytes (Nervous System)    fully expand to see all 3 entries
             Oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Oligodendrocyte-like cells
     
     Epithelial Cells
             Neuroendocrine Cells Stem Bronchi
    ASCL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASCL1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including ASCL1: 
              Neurogenesis in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCL1

    (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.

    Orthologs for ASCL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ascl11 , 5 achaete-scute complex homolog 1 (Drosophila)1, 5 88.6(n)1
    92.21(a)1
      10 (43.64 cM)5
    171721  NM_008553.41  NP_032579.21 
     874908195 
    African clawed frog
    (Xenopus laevis)
    Amphibia ascl1-A2 achaete-scute complex-like 1 83.23(n)    M98272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii asha2 achaete scute homolog A 80.99(n)   30466  NM_131219.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-66
    Protein HLH-6 (hlh-6) mRNA, complete cds
    17(a)
    1 → many
    II(9613463-9614812) WBGene00001952


    ENSEMBL Gene Tree for ASCL1 (if available)
    TreeFam Gene Tree for ASCL1 (if available)

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

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    Paralogs for ASCL1 gene
    ASCL32  ASCL22  ASCL52  ASCL42  
    1 SIMAP similar gene for ASCL1 using alignment to 1 protein entry:     ASCL1_HUMAN:
    ASCL2

    Find genes that share paralogs with ASCL1           About GenesLikeMe



    (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 ASCL1 (see all 125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910734171,2
    --100408716(+) ATAATG/TCCTAT 1 -- us2k10--------
    rs2017822281,2
    C--100412458(+) GAAAAA/GAAAAA 1 -- ut310--------
    rs13537621,2
    C,A--100413753(-) GTACAC/TACACA 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1837391111,2
    --103189468(+) TGCAGC/GGTGCC 1 -- us2k10--------
    rs1162579341,2
    F--103189509(+) CTCACC/ATCCTA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1876308531,2
    --103189536(+) TTAGGA/CCCTTT 1 -- us2k10--------
    rs1170484371,2
    C,F--103189554(+) CAGGGA/TTGTGG 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs1387313571,2
    --103189600(+) CCAGTC/TCTGTG 1 -- us2k10--------
    rs619410871,2
    C,F--103189603(+) GTCCTG/ATGAGG 1 -- us2k110Minor allele frequency- A:0.33NA WA CSA 254
    rs1430368451,2
    --103189708(+) CTGAAA/GCCTAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ASCL1 (103351452 - 103354294 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ASCL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899475CNV Loss21882294

    Human Gene Mutation Database (HGMD): ASCL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASCL1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100790   
    OMIM disorders: 209880  
    14 diseases for ASCL1:    
    About MalaCards
    congenital central hypoventilation syndrome    differentiating neuroblastoma    pulmonary neuroendocrine tumor    supratentorial primitive neuroectodermal tumor
    idiopathic interstitial pneumonia    central hypoventilation syndrome, congenital, with or without hirschsprung disease    lymphoblastic lymphoma    central hypoventilation syndrome
    merkel cell carcinoma    neuroendocrine tumor    pancreatic endocrine tumors    pheochromocytoma
    lung cancer    neuroblastoma

    2 diseases from the University of Copenhagen DISEASES database for ASCL1:
    Embryonal carcinoma     Lung cancer

    Find genes that share disorders with ASCL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ASCL1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroendocrine tumors 70.2 15 14657947 (3), 8751579 (2), 18563491 (1), 17874277 (1) (see all 7)
    thyroid carcinoma medullary 68.8 7 8751579 (1), 20226902 (1), 14668716 (1), 17090547 (1)
    small cell lung cancer 65.1 12 18587322 (4), 11948117 (2), 9144241 (1), 11193209 (1) (see all 5)
    central hypoventilation syndrome, congenital 64 1 14532329 (1)
    carcinoid 54.1 22 15701827 (4), 14657947 (2), 15870121 (2), 19765735 (1) (see all 6)
    carcinoma neuroendocrine 48.3 9 14657947 (3), 18751955 (1)
    lung carcinoma 41.2 6 17507989 (1), 14657947 (1), 15318167 (1)
    teratocarcinoma 34.1 2 8662987 (1)
    cancer lung 32.1 33 16322211 (5), 9144241 (3), 14657947 (3), 18339843 (3) (see all 12)
    pheochromocytoma 31 5 19669229 (2), 9186001 (1)

    Genetic Association Database (GAD): ASCL1
    Human Genome Epidemiology (HuGE) Navigator: ASCL1 (6 documents)

    Export disorders for ASCL1 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)
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    PubMed articles for ASCL1 gene, integrated from 10 sources (see all 178):
    (articles sorted by number of sources associating them with ASCL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. (PubMed id 8390674)1, 2, 3, 9 Ball D.W.... Nelkin B.D. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Examination of the MASH1 gene in patients with Parkinson's disease. (PubMed id 20097173)1, 4, 9 Deng H....Jankovic J. (Biochem. Biophys. Res. Commun. 2010)
    3. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 4, 9 Weese-Mayer D.E....Marazita M.L. (Pediatr. Res. 2004)
    4. Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. (PubMed id 21300955)1, 4 Dehghan A....Chasman D.I. (Circulation 2011)
    5. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PubMed id 20538960)1, 4 Larkin E.K....Redline S. (Am. J. Respir. Crit. Care Med. 2010)
    6. Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PubMed id 16899352)1, 4 Passos Gregorio S....Dias-Neto E. (Schizophr. Res. 2006)
    7. Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)1, 4 Ide M....Yoshikawa T. (Hum. Genet. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Proprotein convertase PACE4 is down-regulated by the basic helix-loop-helix transcription factor hASH-1 and MASH-1. (PubMed id 11736660)1, 9 Yoshida I....Matsuda Y. (Biochem. J. 2001)
    10. Upregulation of ASCL1 and inhibition of Notch signaling pathway characterize progressive astrocytoma. (PubMed id 16103883)1, 9 Somasundaram K....Rao M.R. (Oncogene 2005)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 429 HGNC: 738 AceView: ASCL1 Ensembl:ENSG00000139352 euGenes: HUgn429
    ECgene: ASCL1 H-InvDB: ASCL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ASCL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASCL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASCL1 gene:
    Search GeneIP for patents involving ASCL1

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



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