ASXL1 Chromosome 20
ASXL transcriptional regulator 1
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What This Gene Does
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. [provided by RefSeq, Sep 2009]
Associated Conditions (26)
Inborn genetic diseases
Bohring-Opitz syndrome
ASXL1-related disorder
Intellectual disability
Autism spectrum disorder
Rubinstein Taybi like syndrome
Myelodysplastic syndrome
Microcephaly
Myelodysplasia
Primary brain neoplasm
Neurodevelopmental abnormality
Atypical chronic myeloid leukemia
BCR-ABL1 negative
10 conditions
dystrophia
Developmental delay
Thyroid cancer
nonmedullary
1
Neoplasm
+6 more conditions
Key Variants
RS1023881021
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1158922559
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1180135415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1182909497
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1228100817
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1244161898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266042922
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1272820357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1279708959
Conflicting classifications of pathogenicity
Bohring-Opitz syndrome, Inborn genetic diseases, Bohring-Opitz syndrome
Health Risk
RS1292056366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1365687375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1375830737
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (222)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397515401 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS750170870 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS752263134 | Health Risk | Pathogenic | ASXL1-related disorder, ASXL1-related disorder |
| RS752984377 | Health Risk | Pathogenic | — |
| RS754129466 | Health Risk | Pathogenic | Inborn genetic diseases, Rubinstein Taybi like syndrome, Inborn genetic diseases |
| RS755053984 | Health Risk | Pathogenic | — |
| RS757040754 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS763386297 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS764651405 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS770209084 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS777537805 | Health Risk | Pathogenic | Inborn genetic diseases, Bohring-Opitz syndrome, Neoplasm |
| RS780526428 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS886039670 | Health Risk | Pathogenic | — |
| RS886039722 | Health Risk | Pathogenic | — |
| RS886041975 | Health Risk | Pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS1179121574 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1555912897 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bohring-Opitz syndrome, Myelodysplastic syndrome |
| RS1569337452 | Health Risk | Pathogenic/Likely pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |
| RS371369583 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS750318549 | Health Risk | Pathogenic/Likely pathogenic | Bohring-Opitz syndrome, Abnormal brain morphology, ASXL1-related disorder |
| RS766433101 | Health Risk | Pathogenic/Likely pathogenic | Cafe-au-lait spot, Juvenile myelomonocytic leukemia, Bohring-Opitz syndrome |
| RS886043994 | Health Risk | Pathogenic/Likely pathogenic | Bohring-Opitz syndrome, Bohring-Opitz syndrome |