Gene: ASXL1

Alternate names for this Gene: BOPS|MDS

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: ASXL transcriptional regulator 1

Type of Gene: protein-coding

rs1569339085 in ASXL1 gene and Bohring syndrome PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.

rs1427299519 in ASXL1 gene and Dysmorphic features PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

rs1555912285 in ASXL1 gene and Movement Disorders PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

rs1427299519 in ASXL1 gene and Multiple congenital anomalies PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

rs1555912285 in ASXL1 gene and Muscle hypotonia PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.