ASXL1

Chr 20AD

ASXL transcriptional regulator 1

Also known as: BOPS, MDS

NCBI Gene: 171023ENSG00000171456UniProt: Q8IXJ9OMIM: 612990

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bohring-Opitz syndromeMIM #605039
AD
Myelodysplastic syndrome, somaticMIM #614286

Clinical highlights

Gene-disease validity (ClinGen)
Bohring-Opitz syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
382
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 2.77
OE 0.59 (0.44–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.64Z-score
OE missense 0.94 (0.88–0.99)
791 obs / 842.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.44–0.79)
0≤0.351.4
Missense OE?0.94 (0.88–0.99)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 31 / 52.7Missense obs/exp: 791 / 842.9Syn Z: -0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ASXL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Myelofibrosis

Clonal Architecture of ASXL1-mutated Myelofibrosis

RECRUITING
NCT05710211Phase NAUniversity Hospital, AngersStarted 2023-04-24
Clonal architecture determination
Leukemia, Myeloid, AcuteMyeloid DysplasiaOvarian Epithelial Cancer

Genetic Landscape in Women with Metastatic Ovarian Cancer Before and During Treatment with PARP Inhibitors

RECRUITING
NCT06785077Phase NAEuropean Institute of OncologyStarted 2020-10-02
buccal cellsbone marrow cellsperipheral blood cells
Chronic Myeloid Leukemia, Chronic PhaseWithdrawal;Drug

Efficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT04147533Phase PHASE2Masaryk UniversityStarted 2020-06-16
Imatinib withdrawalDasatinibNilotinib
Polycythemia Vera

Pegylated Interferon α-2b in Combination With Ruxolitinib for Treating Hydroxyurea-resistant/Intolerant PV

RECRUITING
NCT05870475Phase PHASE2Institute of Hematology & Blood Diseases Hospital, ChinaStarted 2023-06-30
RuxolitinibPegylated interferon α-2b
AMLMDS

Molecular Genetics Guide the Maintenance Therapy After Allogeneic Hematopoietic Stem Cell Transplantation

RECRUITING
NCT06972641Phase PHASE2, PHASE3Ruijin HospitalStarted 2025-06-10
DecitabineSorafenib (BAY-43-9006)，giritinibAvastinib
Bone Marrow Failure DisordersVEXAS SyndromeHemoglobinurea, Paroxysmal

Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study

ENROLLING BY INVITATION
NCT07102849National Heart, Lung, and Blood Institute (NHLBI)Started 2025-09-09
Giant Cell ArteritisTemporal ArteritisClonal Hematopoiesis of Indeterminate Potential

Clonal Hematopoiesis in Giant Cell Arteritis

NOT YET RECRUITING
NCT06244069ASST Fatebenefratelli SaccoStarted 2024-03
Temporal arterial biopsyWhole exome sequencingSingle cell transcriptomics
Clonal HematopoiesisClonal Hematopoiesis of Indeterminate PotentialClonal Cytopenia of Undetermined Significance (CCUS)

CHIP in Health and Disease

NOT YET RECRUITING
NCT07780552VASCage GmbHStarted 2026-10
Chronic Myelomonocytic Leukemia

Relevance of Peripheral Cells in the Pathophysiology of Chronic Myelomonocytic Leukemia (CMML)

RECRUITING
NCT03280888Centre Hospitalier Universitaire de NiceStarted 2014-11-05
Polycythemia VeraEssential ThrombocythaemiaMyelofibrosis

Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History

NOT YET RECRUITING
NCT06923670Phase NAFondazione Policlinico Universitario Agostino Gemelli IRCCSStarted 2025-05-21
NGS testingNGS analysis for mutations in genes involved in familial predisposition to hematological malignancies
ST-elevation Myocardial Infarction (STEMI)Clonal Hematopoiesis of Indeterminate Potential (CHIP)

Clonal Hematopoiesis of Indeterminate Potential and Infarct Severity in ST-Elevation Myocardial Infarction

NOT YET RECRUITING
NCT07615023Medical University InnsbruckStarted 2026-06-20
Clonal hematopoiesis assessment and cardiac magnetic resonance imaging
Bohring-Opitz SyndromeASXL1 Gene MutationShashi-Pena Syndrome

ASXL-Related Disorders Natural History Study

RECRUITING
NCT03303716University of California, Los AngelesStarted 2017-09-20

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients