HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ASXL1
ASXL transcriptional regulator 1
Chromosome 20 Β· 20q11.21
NCBI Gene: 171023Ensembl: ENSG00000171456.22HGNC: HGNC:18318UniProt: A0A2R8Y5U1
243PubMed Papers
22Diseases
0Drugs
143Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
PR-DUB complexprotein bindingpositive regulation of retinoic acid receptor signaling pathwaytranscription coactivator activityBohring-Opitz syndromemyelodysplastic syndromeacute myeloid leukemiamyeloid neoplasm
✦AI Summary

ASXL1 (ASXL transcriptional regulator 1) is an epigenetic regulator that functions as a non-catalytic component of the PR-DUB complex, which specifically deubiquitinates histone H2A monoubiquitinated at lysine 119 (H2AK119ub1), thereby regulating Polycomb-mediated gene silencing 1. The protein acts as a transcriptional coactivator and corepressor in a context-dependent manner, modulating nuclear hormone receptor signaling pathways and controlling genes involved in development, cell communication, and proliferation 2. ASXL1 also has a non-epigenetic cytoplasmic function, suppressing innate immune signaling by inhibiting IRAK1-TAK1 interaction and preventing NF-ΞΊB activation 3. Mutations in ASXL1, predominantly frameshift or nonsense mutations generating C-terminally truncated proteins, are frequently observed in clonal hematopoiesis of indeterminate potential (CHIP), affecting 10% of people over 65 years 45. These mutations are associated with increased cardiovascular disease risk, with large ASXL1 CHIP conferring a 45% increased risk of atrial fibrillation and promoting atherosclerosis through dysregulated innate immunity 63. ASXL1 mutations also increase risk for hematologic malignancies and are linked to poor overall survival in cancer patients 72.

Sources cited
1
ASXL1 controls T cell self-renewal through H2AK119 ubiquitination and polycomb group-repressive deubiquitinase pathway
PMID: 39388542
2
ASXL1 has dual functions in transcriptional activation and repression in context-dependent manner and plays role in epithelial-mesenchymal transition
PMID: 38193494
3
Wild-type ASXL1 suppresses innate immune signaling by inhibiting IRAK1-TAK1 interaction, function lost in C-terminally truncated mutants
PMID: 39653824
4
Most ASXL1 mutations are frameshift or nonsense mutations generating C-terminally truncated proteins
PMID: 31945396
5
ASXL1 mutations are associated with clonal hematopoiesis affecting 10% of people over 65 years
PMID: 28483762
6
Large ASXL1 CHIP associated with 45% increased risk of atrial fibrillation
PMID: 38598228
7
ASXL1 mutations in CHIP are associated with increased cardiovascular disease risk and hematologic malignancy risk
PMID: 34298011
Disease Associationsβ“˜22
Bohring-Opitz syndromeOpen Targets
0.81Strong
myelodysplastic syndromeOpen Targets
0.77Strong
acute myeloid leukemiaOpen Targets
0.73Strong
myeloid neoplasmOpen Targets
0.65Moderate
neoplasmOpen Targets
0.64Moderate
myeloid leukemiaOpen Targets
0.59Moderate
hematopoietic and lymphoid system neoplasmOpen Targets
0.56Moderate
lymphoid neoplasmOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.54Moderate
nicotine dependenceOpen Targets
0.53Moderate
Common Hematopoietic NeoplasmOpen Targets
0.49Moderate
primary myelofibrosisOpen Targets
0.48Moderate
ThrombocytopeniaOpen Targets
0.46Moderate
smoking cessationOpen Targets
0.45Moderate
heart diseaseOpen Targets
0.43Moderate
Juvenile Myelomonocytic LeukemiaOpen Targets
0.43Moderate
mental or behavioural disorderOpen Targets
0.43Moderate
hypertensionOpen Targets
0.43Moderate
peripheral vascular diseaseOpen Targets
0.42Moderate
purpuraOpen Targets
0.42Moderate
Bohring-Opitz syndromeUniProt
Myelodysplastic syndromeUniProt
Pathogenic Variants143
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)Pathogenic
Cafe-au-lait spot;Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 635
NM_015338.6(ASXL1):c.1773C>A (p.Tyr591Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 591
NM_015338.6(ASXL1):c.1282C>T (p.Gln428Ter)Pathogenic
not provided|Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 428
NM_015338.6(ASXL1):c.1926del (p.Gly645fs)Likely pathogenic
Bohring-Opitz syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 645
NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer)Pathogenic
not provided|Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 988
NM_015338.6(ASXL1):c.472-2A>GPathogenic
Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2025
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)Pathogenic
not provided|Bohring-Opitz syndrome|Abnormal brain morphology|ASXL1-related disorder|Neoplasm|Ependymoma|Diffuse midline glioma, H3 K27M-mutant
β˜…β˜…β˜†β˜†2025β†’ Residue 646
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)Pathogenic
not provided|Inborn genetic diseases|Bohring-Opitz syndrome|Neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 515
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)Pathogenic
Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1234
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs)Pathogenic
not provided|ASXL1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1213
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)Pathogenic
Bohring-Opitz syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 965
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)Pathogenic
Bohring-Opitz syndrome|10 conditions|dystrophia;Developmental delay|not provided|Myelodysplastic syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 404
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)Pathogenic
not provided|Bohring-Opitz syndrome|Myelodysplastic syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 693
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)Pathogenic
not provided|Inborn genetic diseases|Rubinstein Taybi like syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1415
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)Pathogenic
Inborn genetic diseases|not provided|Myelodysplastic syndrome;Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1377
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 143
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)Pathogenic
Bohring-Opitz syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 1068
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)Pathogenic
not provided|Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2020β†’ Residue 623
NM_015338.6(ASXL1):c.1720-1G>APathogenic
Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2019
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)Pathogenic
not provided|Bohring-Opitz syndrome
β˜…β˜…β˜†β˜†2016β†’ Residue 388
View on ClinVar β†—
Related Genes
KDM6AProtein interaction100%HDAC2Protein interaction99%DNMT3AProtein interaction94%ASXL2Protein interaction94%RBBP7Protein interaction94%RBBP4Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
84%
Ovary
84%
Liver
68%
Heart
37%
Brain
35%
Gene Interaction Network
Click a node to explore
ASXL1KDM6AHDAC2DNMT3AASXL2RBBP7RBBP4
PROTEIN STRUCTURE
Preparing viewer…
PDB8H1T Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.61–0.92]
RankingsWhere ASXL1 stands among ~20K protein-coding genes
  • #1,600of 20,598
    Most Researched243 Β· top 10%
  • #529of 5,498
    Most Pathogenic Variants143 Β· top 10%
  • #8,405of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedASXL1
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease.
PMID: 34298011
J Mol Cell Cardiol Β· 2021
1.00
2
Clonal haematopoiesis: connecting ageing and inflammation in cardiovascular disease.
PMID: 31406340
Nat Rev Cardiol Β· 2020
0.90
3
Epigenetic regulators of clonal hematopoiesis control CD8 T cell stemness during immunotherapy.
PMID: 39388542
Science Β· 2024
0.80
4
Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models.
PMID: 37917239
J Clin Invest Β· 2024
0.72
5
Atrial Fibrillation and Clonal Hematopoiesis in TET2 and ASXL1.
PMID: 38598228
JAMA Cardiol Β· 2024
0.70