ASXL1 |
- 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
- 0.92(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
ClinGen Curation ID:
CCID:006703
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:
- Bohring-Opitz syndrome Monarch
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)