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

ASCL1 Gene

protein-coding   GIFtS: 63
GCID: GC12P103352

Achaete-Scute Complex Homolog 1 (Drosophila)

(Previous names: achaete-scute complex (Drosophila) homolog-like 1, achaete-scute...)
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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)
About This Section

Aliases
Achaete-Scute Complex Homolog 1 (Drosophila)1 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-Like 12
HASH12 3     Achaete-Scute Homolog 12
bHLHa462 3     BHLHA463
Achaete-Scute Complex (Drosophila) Homolog-Like 11     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 complex homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with ASCL1 include pulmonary neuroendocrine tumor, and congenital central hypoventilation syndrome, and among its related super-pathways are Notch signaling pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ASCL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50553

  • ASCL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASCL1 Protein Expression
    REFSEQ proteins: NP_004307.2  
    ENSEMBL proteins: 
     ENSP00000266744  

    Human Recombinant Protein Products for ASCL1: 
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    Novus Biologicals ASCL1 Proteins
    Novus Biologicals ASCL1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ASCL1 

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

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

    ASCL1 for ontologies           About GeneDecksing



    ASCL1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ASCL1 

    Assay Products for ASCL1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ASCL1 
    Cloud-Clone Corp. CLIAs for ASCL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    ASCL1 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: 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): 5/10 molecular function terms (GO ID links to tree view) (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
         
    ASCL1 for ontologies           About GeneDecksing


    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 
     integument  mortality/aging  nervous system  no phenotypic analysis  normal 
     pigmentation  respiratory system  taste/olfaction  vision/eye 

    ASCL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ascl1tm1And for ASCL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASCL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASCL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASCL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASCL1 

    miRNA
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    8/62 QIAGEN miScript miRNA 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:
        
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCL1


    (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 ASCL1 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ASCL1
        Transcription factors in neurogenesis


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




    ASCL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASCL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for ASCL1 (P505531, 3 ENSP000002667444) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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
    NEUROG2Q9H2A33, ENSP000003173334I2D: score=1 STRING: ENSP00000317333
    About this table

    Gene Ontology (GO): 5/54 biological process terms (GO ID links to tree view) (see all 54):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0003359noradrenergic neuron fate commitment IMP14532329
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007219Notch signaling pathway IDA16160079

    ASCL1 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

    ASCL1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about ASCL1

    (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 ASCL1 gene: 
    NM_004316.3  

    Unigene Cluster for ASCL1:

    Achaete-scute complex homolog 1 (Drosophila)
    Hs.703025  [show with all ESTs]
    Unigene Representative Sequence: NM_004316
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266744(uc001tjr.4)

    miRNA
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    8/62 QIAGEN miScript miRNA 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
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    Additional mRNA sequence: 

    AK290539.1 AK314114.1 BC001638.2 BC002341.2 BC003134.1 BC004425.1 BC031299.1 L08424.1 

    4 DOTS entries:

    DT.450436  DT.95096800  DT.95360797  DT.95078444 

    24/140 AceView cDNA sequences (see all 140):

    AW149352 BF433583 BM696219 AW248896 AW139639 AI279866 BM021413 BM677526 
    AI869311 AW131522 AI934490 BE221091 BM715329 BC003134 AI300010 AI885738 
    AW131798 AW246655 AW005359 BC031299 AI369271 CR615179 BU742375 BC002341 

    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™, 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

    ASCL1 expression in normal human tissues (normalized intensities)      ASCL1 embryonic expression: see
    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 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 30 entries
             d3 Neural Progenitor Cells dP3 Neural Domain
             Epithalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Fetal Neuronal Stem Cells (NSC)   
             superior temporal gyrus   
     
     Neural Tube (Nervous System)    fully expand to see all 15 entries
             d4 Neural Progenitor Cells dP4 Neural Domain
             Telencephalon
     
     Eye (Sensory Organs)    fully expand to see all 8 entries
             Ganglion Precursor Cells Ganglion Cell Layer
             Retina
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
     
     Neuron (Nervous System)    fully expand to see all 3 entries
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
             Human Neuron (HN)   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Neuroendocrine Cells Stem Bronchi

    See ASCL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASCL1

    SOURCE GeneReport for Unigene cluster: Hs.703025
        SABiosciences Expression via Pathway-Focused PCR Array including ASCL1: 
              Neurogenesis in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ASCL1 gene from 5/11 species (see all 11)    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 90.62(n)1
    95.67(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 
    fruit fly
    (Drosophila melanogaster)
    Insecta ac6
    l(1)sc6
    (see all 4)
    lethal of scute
    (see all 4)
    21(a)
    19(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(264064-264980)
    X(303756-304850)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-36
    hlh-146
    Protein HLH-14
    25(a)
    18(a)
    many ↔ many
    many ↔ many
    II(9086608-9087917)
    II(5737790-5739792)


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

    ASCL1 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

    10/125 SNPs in ASCL1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ASCL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASCL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 100790   
    OMIM disorders: 209880  
    20/39 diseases for ASCL1 (see all 39):    About MalaCards
    pulmonary neuroendocrine tumor    congenital central hypoventilation syndrome    idiopathic interstitial pneumonia    neuroendocrine tumor
    differentiating neuroblastoma    central hypoventilation syndrome    lymphoblastic lymphoma    merkel cell carcinoma
    neuroendocrine carcinoma    pancreatic endocrine tumor    status epilepticus    teratocarcinoma
    pheochromocytoma    sleep apnea    small cell carcinoma    pneumonia
    sudden infant death syndrome    paraganglioma    primitive neuroectodermal tumor    neuroblastoma

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

    ASCL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 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)
    About This Section

    PubMed articles for ASCL1 gene, integrated from 9 sources (see all 177):
    (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. (1993)
    2. Examination of the MASH1 gene in patients with Parkin son's disease. (PubMed id 20097173)1, 4, 9 Deng H....Jankovic J. (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. (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. (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. (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. (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. (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. (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. (2001)
    10. Upregulation of ASCL1 and inhibition of Notch signaling pathway characterize progressive astrocytoma. (PubMed id 16103883)1, 9 Somasundaram K....Rao M.R. (2005)

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

      Query String
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    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: 429 HGNC: 738 AceView: ASCL1 Ensembl:ENSG00000139352 euGenes: HUgn429
    ECgene: ASCL1 H-InvDB: ASCL1

    (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 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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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