ASH1L Chromosome 1
ASH1 like histone lysine methyltransferase
Upload your DNA to see your personal genotypes for variants in ASH1L.
What This Gene Does
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Histone lysine methyltransferases|Bromodomain containing|SET domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000116539
Associated Conditions (9)
Intellectual disability
autosomal dominant 52
Inborn genetic diseases
ASH1L-related disorder
Autism spectrum disorder
See cases
Global developmental delay
Neurodevelopmental disorder
Neurodevelopmental delay
Key Variants
RS112249223
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 52, Inborn genetic diseases
Health Risk
RS1217872164
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138122556
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 52, Intellectual disability
Health Risk
RS143633976
Conflicting classifications of pathogenicity
Inborn genetic diseases, ASH1L-related disorder, Intellectual disability
Health Risk
RS1558146829
Conflicting classifications of pathogenicity
ASH1L-related disorder, ASH1L-related disorder
Health Risk
RS199618784
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 52
Health Risk
RS199958927
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373475579
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 52, Inborn genetic diseases
Health Risk
RS376223781
Conflicting classifications of pathogenicity
Autism spectrum disorder, ASH1L-related disorder, Autism spectrum disorder
Health Risk
RS532225764
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575594491
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 52, Inborn genetic diseases
Health Risk
RS753698911
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1655881883 | Health Risk | Pathogenic | — |
| RS1662293206 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS1665902242 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1665984696 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS1668875104 | Health Risk | Pathogenic | — |
| RS2148337014 | Health Risk | Pathogenic | — |
| RS2148372150 | Health Risk | Pathogenic | — |
| RS2148725649 | Health Risk | Pathogenic | — |
| RS2148732461 | Health Risk | Pathogenic | — |
| RS2525771157 | Health Risk | Pathogenic | — |
| RS2525806571 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS2526755836 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS2527146010 | Health Risk | Pathogenic | — |
| RS2527158994 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2527171863 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS2527185382 | Health Risk | Pathogenic | — |
| RS2527187534 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527187941 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS2527210571 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS749494995 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS753734834 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS757577741 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS768181059 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS775570091 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Inborn genetic diseases |
| RS775592405 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS1553265154 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 52, Inborn genetic diseases |
| RS1558150870 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 52, Intellectual disability |
| RS1665684529 | Health Risk | Pathogenic/Likely pathogenic | ASH1L-related disorder, Intellectual disability, autosomal dominant 52 |