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ASXL1 Gene

protein-coding   GIFtS: 58
GCID: GC20P030946

Additional Sex Combs Like 1 (Drosophila)

  See ASXL1-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
Additional Sex Combs Like 1 (Drosophila)1 2
BOPS2 5
MDS2 5
KIAA09783 5
Putative Polycomb Group Protein ASXL12
Additional Sex Combs-Like Protein 13

External Ids:    HGNC: 183181   Entrez Gene: 1710232   Ensembl: ENSG000001714567   OMIM: 6129905   UniProtKB: Q8IXJ93   

Export aliases for ASXL1 gene to outside databases

Previous GC identifers: GC00U991178 GC20M030694 GC20P031644 GC20P031691 GC20P030409 GC20P027742


(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 ASXL1 Gene:
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein
required for normal determination of segment identity in the developing embryo. The protein is a member of the
Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other
loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes
while repressing the transcription of other genes. The protein encoded by this gene functions as a
ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1.
Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2009)

GeneCards Summary for ASXL1 Gene:
ASXL1 (additional sex combs like 1 (Drosophila)) is a protein-coding gene. Diseases associated with ASXL1 include myelodysplastic syndrome, somatic, and c-like syndrome. GO annotations related to this gene include retinoic acid receptor binding and transcription coactivator activity. An important paralog of this gene is ASXL3.

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9
Function: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound
nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor
gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through
recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve
differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and
suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB
complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119'
(H2AK119ub1)

Gene Wiki entry for ASXL1 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 at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASXL1 gene promoter:
         AhR   AML1a   HSF1 (long)   LCR-F1   NF-E2 p45   HNF-1A   HNF-1   ARP-1   HSF1short   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASXL1 promoter sequence
   Search Chromatin IP Primers for ASXL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASXL1


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

Entrez Gene cytogenetic band: 20q11   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11

ASXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASXL1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030946:  view genomic region     (about GC identifiers)

Start:
30,946,147 bp from pter      End:
31,027,122 bp from pter
Size:
80,976 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: ASXL1_HUMAN, Q8IXJ9 (See protein sequence)
Recommended Name: Putative Polycomb group protein ASXL1  
Size: 1541 amino acids; 165448 Da
Subunit: Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with RARA, RXRA, NCOA1,
KDM1A and CBX5. Interacts with PPARA, PPARG, CBX1 and CBX3 (By similarity)
Secondary accessions: B2RP59 Q5JWS9 Q8IYY7 Q9H466 Q9NQF8 Q9UFJ0 Q9UFP8 Q9Y2I4
Alternative splicing: 2 isoforms:  Q8IXJ9-1   Q8IXJ9-2   (Derived from EST data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASXL1: NX_Q8IXJ9

Explore proteomics data for ASXL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys351, Lys362, Lys367, Lys1419
  • Modification sites at PhosphoSitePlus

  • See ASXL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158075.1  NP_056153.2  

    ENSEMBL proteins: 
     ENSP00000364839   ENSP00000451216   ENSP00000364841   ENSP00000451444   ENSP00000438654  
     ENSP00000305119  

    ASXL1 Human Recombinant Protein Products:

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    Novus Biologicals ASXL1 Protein
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    Cloud-Clone Corp. Proteins for ASXL1

     
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    antibodies-online proteins for ASXL1 (6 products) 

     
    antibodies-online peptides for ASXL1

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    antibodies-online antibodies for ASXL1 (17 products) 

    ASXL1 Assay Products:

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    Cloud-Clone Corp. ELISAs for ASXL1
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    antibodies-online kits for ASXL1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR024811 ASX/ASX-like
     IPR028020 ASXH
     IPR007759 DNA-dir_RNA_pol_delta/Asxl
     IPR024815 ASXL1
     IPR026905 ASX-like_PHD

    Graphical View of Domain Structure for InterPro Entry Q8IXJ9

    ProtoNet protein and cluster: Q8IXJ9

    UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9
    Domain: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear
    receptors
    Similarity: Belongs to the Asx family
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with ASXL1           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: ASXL1_HUMAN, Q8IXJ9
    Function: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound
    nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor
    gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through
    recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve
    differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and
    suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB
    complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119'
    (H2AK119ub1)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity ISS--
    GO:0003714transcription corepressor activity ISS--
    GO:0005515protein binding IPI16606617
    GO:0042974retinoic acid receptor binding ISS--
         
    Find genes that share ontologies with ASXL1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Asxl1):
     cellular  hematopoietic system  immune system  mortality/aging  skeleton 
     vision/eye 

    Find genes that share phenotypes with ASXL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Asxl1tm1Bc for ASXL1

       genOway: Develop your customized and physiologically relevant rodent model for ASXL1

    miRNA
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    miRTarBase miRNAs that target ASXL1:
    hsa-mir-331-3p (MIRT043339), hsa-mir-193b-3p (MIRT041588), hsa-mir-484 (MIRT042036)

    Block miRNA regulation of human, mouse, rat ASXL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASXL1 (see all 40):
    hsa-miR-4291 hsa-miR-200a hsa-miR-141 hsa-miR-9 hsa-miR-654-5p hsa-miR-155 hsa-miR-23a hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidASXL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASXL1

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASXL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASXL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASXL1


    (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
    ASXL1_HUMAN, Q8IXJ9: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0035517PR-DUB complex IDA--

    Find genes that share ontologies with ASXL1           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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASXL1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ASXL1

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

    Selected Interacting proteins for ASXL1 (Q8IXJ91, 2, 3 ENSP000003648394) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAP1Q925601, 3, ENSP000004171324EBI-1646500,EBI-1791447 I2D: score=2 STRING: ENSP00000417132
    AKT1P317491, 3, ENSP000002702024EBI-1646500,EBI-296087 I2D: score=2 STRING: ENSP00000270202
    HIST1H1CP164033, ENSP000003395664I2D: score=1 STRING: ENSP00000339566
    HIST2H2ACQ167773, ENSP000003321944I2D: score=1 STRING: ENSP00000332194
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0032526response to retinoic acid ISS--
    GO:0035359negative regulation of peroxisome proliferator activated receptor signaling pathway ISS--

    Find genes that share ontologies with ASXL1           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 ASXL1



    (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 ASXL1 gene (2 alternative transcripts): 
    NM_001164603.1  NM_015338.5  

    Unigene Cluster for ASXL1:

    Additional sex combs like 1 (Drosophila)
    Hs.374043  [show with all ESTs]
    Unigene Representative Sequence: NM_015338
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375687(uc002wxt.3 uc002wxs.3 uc021wbw.1 uc010geb.3)
    ENST00000497249 ENST00000375689 ENST00000555343 ENST00000470145 ENST00000553345
    ENST00000555564 ENST00000542461(uc002wxr.2) ENST00000306058
    miRNA
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    Block miRNA regulation of human, mouse, rat ASXL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASXL1 (see all 40):
    hsa-miR-4291 hsa-miR-200a hsa-miR-141 hsa-miR-9 hsa-miR-654-5p hsa-miR-155 hsa-miR-23a hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidASXL1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASXL1 (NM_001164603)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASXL1
      QuantiTect SYBR Green Assays in human, mouse, rat ASXL1
      QuantiFast Probe-based Assays in human, mouse, rat ASXL1

    Additional mRNA sequence: 

    AB023195.2 AB084280.1 AJ438952.2 AK025756.1 AK122923.1 AL117518.1 AL117647.1 BC033284.1 
    BC064984.1 BC100280.1 BC137278.1 BC137280.1 

    16 DOTS entries:

    DT.99942504  DT.443133  DT.120813501  DT.75140530  DT.97825009  DT.120813514  DT.86839152  DT.100655996 
    DT.95233769  DT.97836454  DT.40314056  DT.75105867  DT.75117106  DT.95331739  DT.95358310  DT.120649788 

    Selected AceView cDNA sequences (see all 297):

    AA421697 AA485878 BM719622 BM681453 AI700819 AL707859 AW576576 CB243595 
    BU686340 AW058562 N35443 AW592386 C01378 AA971255 BU682051 BU633817 
    AW957415 AA479845 AA857017 AW069262 NM_015338 CR611154 H39211 BF435344 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ASXL1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b
    SP1:                    -     -                 -     -                 -           -           -     -                                             
    SP2:        -     -     -     -                 -     -                 -           -           -     -                                             
    SP3:              -     -     -                 -     -                 -           -     -     -     -                                             
    SP4:        -     -     -     -                       -                                                                                             
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for ASXL1

    (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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    ASXL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTGCCCA
    ASXL1 Expression
    About this image


    ASXL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    ASXL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASXL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374043

    UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9
    Tissue specificity: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas,
    spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly
    expressed in testes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASXL1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASXL1

    (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 ASXL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asxl11 , 5 additional sex combs like 1 (Drosophila)5
    additional sex combs like 11
    81.72(n)1
    75.13(a)1
      2 (75.41 cM)5
    2287901  NM_001039939.11  NP_001035028.11 
     1533458455 
    chicken
    (Gallus gallus)
    Aves ASXL11 additional sex combs like 1 (Drosophila) 61.95(n)
    54.34(a)
      428158  XM_004947175.1  XP_004947232.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASXL16
    additional sex combs like 1 (Drosophila)
    42(a)
    1 ↔ 1
    GL343505.1(523320-563072)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691242 hypothetical protein MGC69124 74.51(n)    BC057750.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.288262 Danio rerio cDNA clone IMAGE6793220, partial cds 74.93(n)    BC061959.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Asx6
    Additional sex combs
    12(a)
    1 → many
    2R(10391463-10399998)


    ENSEMBL Gene Tree for ASXL1 (if available)
    TreeFam Gene Tree for ASXL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASXL1 gene
    ASXL32  ASXL22  
    3 SIMAP similar genes for ASXL1 using alignment to 7 protein entries:     ASXL1_HUMAN (see all proteins):
    ASXH1    ASXL2    ASXL3

    Find genes that share paralogs with ASXL1           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 ASXL1 (see all 1663)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013020841,2
    Cuntested131038420(+) CAGGTC/TGGGCC 2 R W mis10--------
    rs2001985741,2
    --30946654(+) CCGAGA/GGGGGC 2 -- int10--------
    rs1887883331,2
    --30946687(+) GGGCTC/TGCCGC 2 -- int10--------
    rs114745101,2
    C,F--30949404(+) CACTGCAC/-TCCAG 2 -- cds12Minor allele frequency- -:0.50NA CSA 4
    rs339304071,2
    C--30949405(+) ACTGT-/CACCCAGC 2 -- cds10--------
    rs114751391,2
    C,F--30949437(+) AAAAAA/-GAAAA 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs114821321,2
    C--30951065(+) TTCTT-/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs114780481,2
    C--30954881(+) AAAAA-/AAAAAA 2 -- int1 trp32Minor allele frequency- A:0.25NA 4
    rs1136023761,2
    C,F--30960627(+) TCTTGT/ACCTCG 2 -- int1 ds50011Minor allele frequency- A:0.50WA 2
    rs1450227891,2
    --30961978(+) TGCTTG/TCTATC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASXL1 (30946147 - 31027122 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ASXL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2452890CNV Deletion19546169
    nsv509765CNV Insertion20534489
    dgv4562n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ASXL1
    Locus Specific Mutation Databases (LSDB): ASXL1

    Selected Site Specific Mutation Identification with PCR Assays for ASXL1 (see all 10):
    Cosmic IdAA Change
    41715p.R1068*
    51388p.R693*
    36166p.Y591fs*1
    36165p.E635fs*15
    36167p.P808fs*10
    2 Site Specific Cancer Mutation PCR Panels containing ASXL1:
    Acute Myeloid Leukemia
    Myelodysplastic Syndromes
    SeqTarget long-range PCR primers for resequencing ASXL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASXL1

    (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: 612990   
    OMIM disorders: 605039  614286  
    UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9
  • Bohring-Opitz syndrome (BOPS) [MIM:605039]: A syndrome characterized by severe intrauterine growth
    retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos,
    nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with
    deviation of the wrists and metacarpophalangeal joints. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal
    hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired
    morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral
    blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA),
    refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory
    cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML)
    is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of
    patients that often progresses to acute myeloid leukemia (AML). Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 6 diseases for ASXL1:    
    About MalaCards
    myelodysplastic syndrome, somatic    c-like syndrome    n syndrome    chronic myelomonocytic leukemia
    myelodysplastic syndromes    lesch-nyhan syndrome

    4 diseases from the University of Copenhagen DISEASES database for ASXL1:
    Myelofibrosis     Thrombocytosis     Leukemia     Polycythemia vera

    Find genes that share disorders with ASXL1           About GenesLikeMe

    1 Novoseek inferred disease relationship for ASXL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 12657473 (1)

    Genetic Association Database (GAD): ASXL1
    Human Genome Epidemiology (HuGE) Navigator: ASXL1 (6 documents)

    Export disorders for ASXL1 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 ASXL1 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with ASXL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homolog of Additional sex combs, additional sex combs-like 1, maps to chromosome 20q11. (PubMed id 12657473)1, 2, 3, 9 Fisher C.L.... Brock H.W. (Gene 2003)
    2. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. (PubMed id 20182461)1, 2, 4 Boultwood J....Wainscoat J.S. (Leukemia 2010)
    3. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. (PubMed id 19388938)1, 2, 4 Gelsi-Boyer V....Birnbaum D. (Br. J. Haematol. 2009)
    4. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. (PubMed id 16606617)1, 2, 9 Cho Y.S.... Um S.J. (J. Biol. Chem. 2006)
    5. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. (PubMed id 21706002)1, 2 Hoischen A....de Vries B.B. (Nat. Genet. 2011)
    6. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. (PubMed id 20436459)1, 2 Scheuermann J.C.... Muller J. (Nature 2010)
    7. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. (PubMed id 20678218)1, 4 Rocquain J....Mozziconacci M.J. (BMC Cancer 2010)
    8. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. (PubMed id 20880116)1, 4 Gelsi-Boyer V....Birnbaum D. (Br. J. Haematol. 2010)
    9. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. (PubMed id 19880879)1, 2 Lee S.W.... Um S.J. (J. Biol. Chem. 2010)
    10. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. (PubMed id 19865112)1, 4 Carbuccia N....Mozziconacci M.J. (Leukemia 2010)

    (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: 171023 HGNC: 18318 AceView: ASXL1 Ensembl:ENSG00000171456 euGenes: HUgn171023
    ECgene: ASXL1 H-InvDB: ASXL1

    (According to HUGE)
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    HUGE: KIAA0978

    (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 ASXL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASXL1 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 ASXL1 gene:
    Search GeneIP for patents involving ASXL1

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



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