• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ASXL1 (HGNC:18318) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ASXL transcriptional regulator 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0978
%HI
20.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.79(Read more about gnomAD LOEUF score)
Cytoband
20q11.21
Genomic Coordinates
GRCh37/hg19: chr20:30946134-31027122 NCBI Ensembl UCSC
GRCh38/hg38: chr20:32358331-32439319 NCBI Ensembl UCSC
MANE Select Transcript
NM_015338.6 ENST00000375687.10 (Read more about MANE Select)
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) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non- catalytic component of the PR-DUB complex, a c... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12518
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/14/2013

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 21706002
    Hoischen et al (2012) identified heterozygous de novo nonsense mutations in ASXL1 in 3 patients with Bohring syndrome using exome sequencing. Sanger sequencing of ten additional individuals with the initial diagnosis of Bohring-Opitz syndrome identified de novo nonsense mutations in four further individuals. None of these variants was identified in more than 100 control chromosomes or in any of over 200 in-house sequenced exomes.
  • PUBMED: 22419483
    Magini at al (2012) report a further two novel cases carrying two previously undescribed de novo mutations in exon 13 including a frameshift mutation due to a heterozygous deletion of five bps causing a premature stop codon and a substitution c.2893C>T, corresponding to the nonsense mutation. Neither dbSNP nor 1000 Genomes databases reported these alterations, supporting their causative role.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)