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

ASCC3 Gene

protein-coding   GIFtS: 53
GCID: GC06M100956

Activating Signal Cointegrator 1 Complex Subunit 3

(Previous names: helicase, ATP binding 1)
(Previous symbol: HELIC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Activating Signal Cointegrator 1 Complex Subunit 31 2     Trip4 Complex Subunit P2002 3
Helicase, ATP Binding 11 2 3     ASC1p2002 3
HELIC11 2 3     RNAH2
RNA Helicase Family1 2     EC 3.6.4.123
ASC-1 Complex Subunit P2002 3     

External Ids:    HGNC: 186971   Entrez Gene: 109732   Ensembl: ENSG000001122497   OMIM: 6142175   UniProtKB: Q8N3C03   

Export aliases for ASCC3 gene to outside databases

Previous GC identifers: GC06M101063 GC06M098395


(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 ASCC3 Gene:
This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding
of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1
complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for ASCC3 Gene: 
ASCC3 (activating signal cointegrator 1 complex subunit 3) is a protein-coding gene. Diseases associated with ASCC3 include esophageal adenocarcinoma, and tuberculosis. GO annotations related to this gene include ATP-dependent 3'-5' DNA helicase activity and nucleic acid binding. An important paralog of this gene is HELQ.

UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
Function: 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate
single-stranded substrate needed for ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within
double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation

Gene Wiki entry for ASCC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASCC3 gene promoter:
         NF-1   NF-1/L   SRF (504 AA)   MEF-2   Olf-1   Lmo2   MEF-2A   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASCC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASCC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASCC3


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

Entrez Gene cytogenetic band: 6q16   Ensembl cytogenetic band:  6q16.3   HGNC cytogenetic band: 6q16

ASCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASCC3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M100956:  view genomic region     (about GC identifiers)

Start:
100,956,070 bp from pter      End:
101,329,248 bp from pter
Size:
373,179 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0 (See protein sequence)
Recommended Name: Activating signal cointegrator 1 complex subunit 3  
Size: 2202 amino acids; 251460 Da
Subunit: Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKBH3
Subcellular location: Nucleus. Cytoplasm
Sequence caution: Sequence=AAG45474.1; Type=Frameshift; Positions=2175; Sequence=CAA11679.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAA11679.1; Type=Frameshift; Positions=2175;
Secondary accessions: E7EW23 O43738 Q4G1A0 Q5VTN2 Q9H1I9 Q9H5A2 Q9NTR0
Alternative splicing: 3 isoforms:  Q8N3C0-1   Q8N3C0-3   Q8N3C0-4   

Explore the universe of human proteins at neXtProt for ASCC3: NX_Q8N3C0

Explore proteomics data for ASCC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N3C0

  • ASCC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASCC3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001271200.1  NP_006819.2  NP_071374.1  

    ENSEMBL proteins: 
     ENSP00000358159   ENSP00000320252   ENSP00000430769   ENSP00000320777   ENSP00000358139  

    Human Recombinant Protein Products for ASCC3: 
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    Cloud-Clone Corp. Proteins for ASCC3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus TAS--
    GO:0005737cytoplasm IEA--
    GO:0005794Golgi apparatus ----

    ASCC3 for ontologies           About GeneDecksing



    ASCC3 Antibody Products: 
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    Assay Products for ASCC3: 
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    Cloud-Clone Corp. ELISAs for ASCC3 
    Cloud-Clone Corp. CLIAs for ASCC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR004179 Sec63-dom
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry Q8N3C0

    ProtoNet protein and cluster: Q8N3C0

    UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
    Similarity: Belongs to the helicase family
    Similarity: Contains 2 helicase ATP-binding domains
    Similarity: Contains 2 helicase C-terminal domains
    Similarity: Contains 2 SEC63 domains


    ASCC3 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: ASCC3_HUMAN, Q8N3C0
    Function: 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate
    single-stranded substrate needed for ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within
    double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.121

         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:0000166nucleotide binding ----
    GO:0003676nucleic acid binding IEA--
    GO:0003677DNA binding ----
    GO:0004386helicase activity ----
    GO:0005515protein binding IPI--
         
    ASCC3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ASCC3:
     G0/1 arrest  Increased G1 DNA content  Increased circadian period len  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ascc3):
     behavior/neurological  limbs/digits/tail  other  skeleton  vision/eye 

    ASCC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASCC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASCC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASCC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASCC3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASCC3
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate ASCC3:
    hsa-miR-30c hsa-miR-30a hsa-miR-136* hsa-miR-196a* hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidASCC3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ASCC3

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASCC3 (NM_006828)
    Sino Biological Human cDNA Clone for ASCC3
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCC3


    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASCC3

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

    5/44 Interacting proteins for ASCC3 (Q8N3C02, 3 ENSP000003202524) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKILP127572, 3MINT-61658 I2D: score=3 
    ENSG00000206353Q154773I2D: score=1 
    ENSG00000223493Q154773I2D: score=1 
    ENSG00000225737Q154773I2D: score=1 
    ENSG00000228896Q154773I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006307DNA dealkylation involved in DNA repair IDA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0008283cell proliferation IMP--
    GO:0032508DNA duplex unwinding IDA--

    ASCC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASCC3

    Search CenterWatch for drugs/clinical trials and news about ASCC3

    (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 ASCC3 gene (3 alternative transcripts): 
    NM_001284271.1  NM_006828.3  NM_022091.4  

    Unigene Cluster for ASCC3:

    Activating signal cointegrator 1 complex subunit 3
    Hs.486031  [show with all ESTs]
    Unigene Representative Sequence: NM_006828
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369162(uc003pqk.3 uc011eai.1) ENST00000518006 ENST00000324696
    ENST00000522650(uc003pql.3) ENST00000468245(uc010kcv.3) ENST00000324723
    ENST00000369143(uc003pqm.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASCC3
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate ASCC3:
    hsa-miR-30c hsa-miR-30a hsa-miR-136* hsa-miR-196a* hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidASCC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ASCC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASCC3
    Clone
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    OriGene clones in human, mouse for ASCC3 (see all 12)
    OriGene ORF clones in mouse, rat for ASCC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASCC3 (NM_006828)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASCC3
    Primer
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    OriGene qPCR primer pairs and template standards for ASCC3
    OriGene qSTAR qPCR primer pairs in human, mouse for ASCC3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASCC3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASCC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASCC3

    Additional mRNA sequence: 

    AJ223948.1 AK023189.1 AK299117.1 AK307903.1 AK315197.1 AL834463.1 AY013288.1 BC014358.1 
    BC026066.1 BC039857.1 BC050681.1 BC125211.1 BC125212.1 BC130038.1 CR936692.1 

    9 DOTS entries:

    DT.442902  DT.75101017  DT.100644004  DT.100784229  DT.100784230  DT.121333145  DT.92060157  DT.99927233 
    DT.121333097 

    24/167 AceView cDNA sequences (see all 167):

    N58930 AI206286 AY013288 BQ720311 BU682647 BC050681 AA551688 BX415630 
    AA632279 CB122307 AL834463 AI889749 AA405505 CB124488 AI674903 BE503088 
    AI206167 BU688613 AA749406 BQ023090 BF593403 BQ023443 CB161009 BQ436047 

    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

    ASCC3 expression in normal human tissues (normalized intensities)      ASCC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAACTGGG
    ASCC3 Expression
    About this image


    ASCC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See ASCC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASCC3

    SOURCE GeneReport for Unigene cluster: Hs.486031

    UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for ASCC3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASCC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCC3

    (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 eukaryotes.

    Orthologs for ASCC3 gene from 10/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ascc31 , 5 activating signal cointegrator 1 complex subunit 31, 5 88.54(n)1
    92.35(a)1
      10 (24.87 cM)5
    779871  NM_198007.21  NP_932124.21 
     505926695 
    chicken
    (Gallus gallus)
    Aves ASCC31 activating signal cointegrator 1 complex subunit 3 79.93(n)
    83.46(a)
      421790  XM_419816.3  XP_419816.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASCC36
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(170788060-171143205)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420336552   -- 77.56(n)    142033655 
    zebrafish
    (Danio rerio)
    Actinopterygii ascc31 activating signal cointegrator 1 complex subunit 3 70.65(n)
    80.86(a)
      100332599  XM_002664026.2  XP_002664072.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52051 CG5205 53.5(n)
    51.82(a)
      41891  NM_142215.2  NP_650472.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54E2A.61 hypothetical protein 53.61(n)
    50.26(a)
      175136  NM_064661.2  NP_497062.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLH11 Slh1p 55.13(n)
    49.43(a)
      853187   NP_011787.4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G611401 U5 small nuclear ribonucleoprotein helicase 55.85(n)
    54.31(a)
      836235  NM_001203655.1  NP_001190584.1 
    rice
    (Oryza sativa)
    Liliopsida Os.268742 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.57(n)    AK099757.1 


    ENSEMBL Gene Tree for ASCC3 (if available)
    TreeFam Gene Tree for ASCC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASCC3 gene
    HELQ2  SNRNP2002  POLN2  POLQ2  
    2 SIMAP similar genes for ASCC3 using alignment to 3 protein entries:     ASCC3_HUMAN (see all proteins):
    ASCC3L1    SNRNP200

    ASCC3 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

    10/7025 SNPs in ASCC3 are shown (see all 7025)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170098291,2
    C,F--100956139(+) TCAGAA/CACACT 1 -- int11Minor allele frequency- C:0.01NA 120
    rs10584621,2
    C,F--100956323(-) CAAACA/GAATTC 1 -- int13Minor allele frequency- G:0.10MN NA EA 424
    rs1477832731,2
    C--100956818(+) CTGTG-/TACC  
            
    TACCA
    1 -- ut310--------
    rs1862603141,2
    --100956833(+) ACAGAG/TTTATA 1 -- ut310--------
    rs1440903691,2
    --100956984(+) TCATCC/TCAAAT 1 -- ut310--------
    rs1916078571,2
    --100957021(+) ATGCTC/TTTTCA 1 -- ut310--------
    rs790289351,2
    C,F--100957211(+) TGACTG/CAACAG 1 -- ut311Minor allele frequency- C:0.06WA 118
    rs2005353431,2
    C--100957271(+) TTTAAC/TGCCAG 2 A syn10--------
    rs2017896961,2
    --100957312(+) GACCTA/GTGCAG 2 Q * stg10--------
    rs2407681,2,4
    C,F,O,A,H--100957344(+) TGAGAT/CAGATG 2 /Y /C mis1112Minor allele frequency- C:0.12MN NS EA NA PA EU CA WA CSA 14465

    HapMap Linkage Disequilibrium report for ASCC3 (100956070 - 101206070 bp, first 250kb of ASCC3)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for ASCC3 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732486CNV Deletion23290073
    esv1007226CNV Insertion20482838
    esv1269345CNV Insertion17803354
    esv273447CNV Insertion20981092
    nsv470848CNV Loss18288195
    dgv6955n71CNV Loss21882294
    dgv6953n71CNV Loss21882294
    dgv6956n71CNV Loss21882294
    nsv521897CNV Loss19592680
    nsv463990CNV Loss19166990


    Human Gene Mutation Database (HGMD): ASCC3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ASCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ASCC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614217    OMIM disorders: --

    5 diseases for ASCC3:    About MalaCards
    esophageal adenocarcinoma    tuberculosis    esophagitis    melanoma
    adenocarcinoma


    ASCC3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ASCC3
    Human Genome Epidemiology (HuGE) Navigator: ASCC3 (7 documents)

    Export disorders for ASCC3 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 ASCC3 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with ASCC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA unwinding by ASCC3 helicase is coupled to ALKBH3- dependent DNA alkylation repair and cancer cell proliferation. (PubMed id 22055184)1, 2 Dango S....Shi Y. (2011)
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Novel transcription coactivator complex containing activating signal cointegrator 1. (PubMed id 12077347)1, 2 Jung D.-J.... Lee Y.C. (2002)
    7. Antitumor immunity at work in a melanoma patient. (PubMed id 10218103)1, 3 Coulie P.G....Chiari R. (1999)
    8. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (2013)
    9. The genetic architecture of economic and political pre ferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10973 HGNC: 18697 AceView: ASCC3 Ensembl:ENSG00000112249 euGenes: HUgn10973
    ECgene: ASCC3 H-InvDB: ASCC3

    (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 ASCC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASCC3 gene:
    Search GeneIP for patents involving ASCC3

    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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