The ASXL1 gene homepage

General information
Gene symbol ASXL1
Gene name additional sex combs like 1 (Drosophila)
Chromosome 20
Chromosomal band q11
Imprinted Unknown
Genomic reference NG_027868.1
Transcript reference NM_015338.5
Exon/intron information NM_015338.5 exon/intron table
Associated with diseases BOPS, ID, MDS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Helger Yntema
Total number of public variants reported 125
Unique public DNA variants reported 100
Individuals with public variants 48
Hidden variants 26
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created August 04, 2011
Date last updated January 11, 2023
Version ASXL1:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015338.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 18318
Entrez Gene 171023
PubMed articles ASXL1
OMIM - Gene 612990
OMIM - Diseases BOPS (Bohring-Opitz syndrome (BOPS))
MDS (myelodysplastic syndrome (MDS))
GeneCards ASXL1
GeneTests ASXL1
Orphanet ASXL1

Active transcripts




NCBI ID     

NCBI Protein ID     

00003005 20 transcript variant 1 NM_015338.5 NP_056153.2 125

Copyright & disclaimer
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