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Gene : ASXL3 Homo sapiens

Name  ? ASXL transcriptional regulator 3 Cytological Location  18q12.1
Brief Description  additional sex combs like 3, transcriptional regulator
description  This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
  • synonyms:
  • additional sex combs like 3 (Drosophila),
  • KIAA1713,
  • ASXL3,
  • OTTHUMG00000178395,
  • uc010dmg.2,
  • BRPS,
  • AB051500,
  • KIAA1713,
  • NM_030632,
  • HGNC:29357,
  • additional sex combs like 3, transcriptional regulator
  • identifiers:
  • 80816,
  • ENSG00000141431,
  • ASXL3

Genome feature

Region: gene ? Length: 172619  
Location: 18:33578577-33751195 Cyto location: 18q12.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results