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Gene : ASXL1 Homo sapiens

Name  ? ASXL transcriptional regulator 1 Cytological Location  20q11.21
Brief Description  additional sex combs like 1, transcriptional regulator
description  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]
  • synonyms:
  • BOPS,
  • additional sex combs like 1 (Drosophila),
  • HGNC:18318,
  • ASXL1,
  • uc061wej.1,
  • OTTHUMG00000032218,
  • AJ438952,
  • additional sex combs like 1, transcriptional regulator,
  • MDS,
  • NM_015338,
  • KIAA0978
  • identifiers:
  • 171023,
  • ENSG00000171456,
  • ASXL1

Genome feature

Region: gene ? Length: 81258  
Location: 20:32358062-32439319 Cyto location: 20q11.21


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

4 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results