Property Summary

NCBI Gene PubMed Count 88
PubMed Score 147.98
PubTator Score 120.94

Knowledge Summary


No data available


  Differential Expression (21)

Disease log2 FC p
malignant mesothelioma 1.500 1.7e-06
astrocytic glioma 1.500 1.3e-03
ependymoma 1.800 1.4e-02
oligodendroglioma 1.800 2.7e-03
psoriasis 1.200 2.1e-03
osteosarcoma -1.769 2.0e-05
glioblastoma 2.100 4.4e-07
atypical teratoid / rhabdoid tumor 1.600 1.5e-06
medulloblastoma 1.200 2.1e-06
medulloblastoma, large-cell 1.600 6.6e-04
primitive neuroectodermal tumor 1.300 5.3e-04
pancreatic ductal adenocarcinoma liver m... 1.235 5.6e-03
tuberculosis and treatment for 6 months 1.400 2.0e-04
intraductal papillary-mucinous adenoma (... 1.400 1.1e-02
intraductal papillary-mucinous carcinoma... 1.600 6.9e-03
pediatric high grade glioma 1.800 2.0e-08
spina bifida -1.542 2.9e-02
Pick disease 1.300 3.7e-07
invasive ductal carcinoma 1.100 2.0e-02
ovarian cancer -1.500 9.4e-07
pituitary cancer -1.200 5.8e-03

Protein-protein Interaction (6)

Gene RIF (74)

26848006 Chronic myelomonocytic leukemia has an inherent tendency to transform to acute myeloid leukemia. Gene mutations involving ASXL1 are frequent and identified to have an independent negative prognostic effect on overall survival.
26771811 We confirm the negative prognostic impact imparted by ASXL1 mutations and suggest a favorable impact from TET2 mutations in the absence of ASXL1 mutations.
26768331 De novo mutation in ASXL1 gene is associated with Bohring-Opitz syndrome.
26739236 This study showed that the BAP1 C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives.
26700326 the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered.
26623729 Correction of ASXL1 driver mutation in leukemia cells using CRISPR/Cas increases survival in vivo in mice.
26470845 Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals
26364555 Frameshift mutation in the ASXL1 gene is associated with Bohring-Opitz syndrome.
26095772 ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 complex.
25921057 Somatic mutations in ASXL1 are associated with myeloid malignancies.
25860933 ASXL1 and TP53 mutations identify two molecular subgroups among AML-MRCs, with specific poor prognosis. This could be useful for future diagnostic and prognostic classifications.
25850813 The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia.
25836587 USP7 demonstrated that USP7 bound to both ASXL1-WT and ASXL1-MT
25835095 ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers. [Review]
25596267 ASXL1 mutation, particularly in the context of a coexisting RUNX1 mutation, constitutes a strong adverse prognostic factor in acute myeloid leukemia.
25596262 study identified TET2 and ASXL1 mutations in Chinese patients with aplastic anemia
25592059 ASXL1 mutations are associated with acute myeloid leukemia.
25322686 The expression of ASXL1 and CALR predicts the survival and momelotinib drug response in myelofibrosis patients.
25308295 Data show that additional sex combs like 1 (Drosophila) protein (ASXL1) mutational status can improve the risk stratification of patients with acute myeloid leukemia in the setting of integrated mutational profiling.
25306901 SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome.
25239264 Mutations in ASXL1 gene is associated with chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia.
25005031 Data indicate that 8 of 190 patients with essential thrombocythemia with calreticulin (CALR) mutation had an additional Sex Comb-Like 1 protein (ASXL1) mutation.
24695057 The current study confirms the independent prognostic value of nonsense/frameshift ASXL1 mutations in chronic myelomonocytic leukemia and signifies its added value to the Mayo prognostic model.
24496303 These observations signify immediate clinical relevance and warrant i) CALR and ASXL1 mutation determination in all patients with PMF and ii) molecular revision of DIPSS-plus.
24465546 ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases.
24216483 Although loss-of-function ASXL1 mutations promote myeloid transformation, a large subset of ASXL1 mutations is thought to result in stable truncation of ASXL1.
24115220 IDH mutations were closely associated with mutations of DNMT3A, ASXL1, and SRSF2, suggesting the interaction of IDH mutations with these gene aberrations may play a role in the development of MDS.
24077845 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
23952244 The low incidence of mutations in younger patients with primary disease and the lack of significance indicate that there is a limited role for screening at diagnosis for ASXL1 mutations for the purpose of prognostic stratification.
23704076 duplication of ASXL1 contributes to the metopic ridging/trigonocephaly phenotype in patients with 20q11.2 duplication syndrome
23690417 A new prognostic score including ASXL1 status, age, hemoglobin, WBC, and platelet counts defines three groups of CMML patients with distinct outcomes. This score appears more discriminative than those based solely on clinical parameters.
23531518 We evaluated the prognostic relevance of several clinical and laboratory parameters in 226 Mayo Clinic patients with chronic myelomonocytic leukemia and spliceosome component (P=0.4) and ASXL1 mutations (P=0.37) had no impact survival.
23365461 Data indicate there were two patients carried ASXL1 mutations, both with t(8;21), 2 had DNMT3A mutations, 2 had IDH1 mutations, 1 had IDH2 mutation, and 3 had TET2 mutations.
23294243 ASXL1 knockdown perturbs human granulomonocytic differentiation.
23099237 ASXL1 mutations might results in dominance of the mutant clone in Chinese with myelodysplastic syndromes.
23065512 Data show that myelodysplastic chronic myelomonocytic leukemias are characterized by mutations in transcription/epigenetic regulators ASXL1, RUNX1, TET2 and SRSF2.
23018865 ASXL1 exon 12 mutations are frequent in acute myeloid leukemia.
23009937 ASXL1 mutations are associated with the pathogenesis of myeloproliferative neoplasms.
22929312 Patients with ASXL1 mutations did not harbor IDH1, FLT3, or CEBPA mutations, and a combination of ASXL1 and IDH2 mutations was found only in one patient with acute myeloid leukemia.
22915647 Mutations in ASXL1 is associated with worse response to therapy in acute myeloid leukemia.
22905207 TET2, DNMT3A, CBL and ASXL1 mutations are present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients
22897849 ASXL1 associates with the PRC2 and loss of ASXL1 in vivo collaborates with NRASG12D to promote myeloid leukemogenesis.
22542624 ASXL1 may be a direct target of SOX2 and may play a role in maintaining the pluripotency of stem cells.
22535592 genetic association studies in a French population: Data suggest that acute myeloid leukemia with myelodysplasia-related changes is associated with higher frequency of ASXL1 mutations in intergenic DNA regions.
22489043 We found a high incidence of ASXL1 mutation in myelofibrosis patients (20%) and a low incidence in polycythemia vera (7%) and essential thrombocythemia (4%) patients.
22436456 A systematic determination of ASXL1 mutational status in myeloid malignancies should help in prognosis assessment.
22419483 study reports on 2 novel cases of Bohring-Opitz syndrome (BOS) carrying two previously undescribed ASXL1 mutations (c.2407_2411del5 [p.Q803TfsX17] and c.2893C>T [p.R965X]); these new data further support ASXL1 as cause of BOS
22271902 Germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia; monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy.
22058207 ASXL1 mutations are common mutations in acute myeloid leukemia and indicate a poor therapy outcome.
22031865 Results indicate that demonstrates that ASXL1-mutated older patients have unfavorable outcomes and may be candidates for experimental treatment approaches.
21923651 ASXL1 mutations were already seen at diagnosis in most patients with primary or secondary myelofibrosis. They were associated with progression from the chronic phase of a previous polycythemia vera or essential thrombocythemia.
21904853 Data show that TET2 and ASXL1 pathogenic mutations are found in 8% of myeloproliferative neoplasms lacking JAK2 and MPL mutations, whereas IDH1, IDH2, and c-CBL mutations are not detected in this subset of patients.
21712540 ASXL1 haploinsufficiency is associated with a myelofibrosis phenotype in the context of other known and unknown lesions, and disruption of ASXL1 function may contribute to the disease pathogenesis of myelofibrosis.
21706002 Nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
21576631 results suggest that ASXL1 mutations are frequent molecular aberrations in myelodysplastic syndrome that predict an adverse prognostic outcome
21455215 9 new missense mutations were found in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative disorders.
21346257 ASXL1 mutation is asssociated with chronic myelogenous leukemia.
21307773 Studies indicate that additional mutations in genes which appear to affect the epigenome of MPN patients have been discovered including mutations in TET2, IDH1/ 2, EZH2, and ASXL1.
20880116 Observational study of gene-disease association. (HuGE Navigator)
20693432 Acute myeloid leukemia bearing ASXL1 mutations showed distinct clinical and biological features.
20678218 Mutations in ASXL1 were frequent in refractory anemia with excess of blasts.
20678218 Observational study of gene-disease association. (HuGE Navigator)
20596031 the 8 mononucleotide guanine repeat sequence in the reference sequence for ASXL1 in this region may confound delimitation of the true repeat number in this region
20410925 ASXL1 gene mutation is associated with chronic myeloid leukemia.
20408841 2 novel heterozygous (nonsense and frameshift) mutations in exon 12 of ASLX1 in 49 juvenile myelomonocytic leukaemia patients
20334914 ASXL1 mutations are associated with refractory anemia with ring sideroblasts and thrombocytosis.
20182461 Mutations of the polycomb-associated gene ASXL1 is associated with myelodysplastic syndromes and acute myeloid leukemia.
20182461 Observational study of gene-disease association. (HuGE Navigator)
19865112 ASXL1 mutations were mutually exclusive with NPM1 alterations in acute myeloid leukemias.
19865112 Observational study of gene-disease association. (HuGE Navigator)
19609284 ASXL1 haploinsufficiency plays a role in leukemogenesis
19609284 Observational study of gene-disease association. (HuGE Navigator)
19586940 Data show that sequences 3' of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3' of FRG1B and LOC1499503.
19388938 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (93)

PMID Year Title
26848006 2016 Chronic Myelomonocytic Leukemia: Focus on Clinical Practice.
26771811 2016 Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia.
26768331 2016 Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
26739236 2016 BAP1/ASXL1 recruitment and activation for H2A deubiquitination.
26700326 2016 Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels.
26623729 2015 ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts.
26470845 2015 Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals.
26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
26095772 2015 Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex.
25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
25860933 2015 Role of ASXL1 and TP53 mutations in the molecular classification and prognosis of acute myeloid leukemias with myelodysplasia-related changes.
25850813 2015 ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
25836587 2015 The stability of epigenetic factor ASXL1 is regulated through ubiquitination and USP7-mediated deubiquitination.
25835095 2015 Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.
25596267 2015 ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study by the German-Austrian Acute Myeloid Leukemia Study Group.
25596262 2015 Mutations of ASXL1 and TET2 in aplastic anemia.
25592059 2015 AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a specific molecular mutation pattern including ASXL1 mutations in 46.8% of the patients.
25322686 2015 Genetic determinants of response and survival in momelotinib-treated patients with myelofibrosis.
25308295 2015 ASXL1 mutations define a subgroup of patients with acute myeloid leukemia with distinct gene expression profile and poor prognosis: a meta-analysis of 3311 adult patients with acute myeloid leukemia.
25306901 2015 SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.
25239264 2014 Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia.
25005031 2015 CALR and ASXL1 mutation analysis in 190 patients with essential thrombocythemia.
24695057 2014 ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients.
24496303 2014 CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients.
24465546 2014 ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases.
24216483 2013 Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations.
24115220 2014 IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.
24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
23952244 2014 ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification.
23704076 2013 Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
23690417 2013 Prognostic score including gene mutations in chronic myelomonocytic leukemia.
23531518 2013 Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23365461 2013 Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A.
23294243 2013 Silencing of ASXL1 impairs the granulomonocytic lineage potential of human CD34? progenitor cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23099237 2013 TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes.
23065512 2013 Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts.
23018865 2013 ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome.
23009937 2012 Role of TET2 and ASXL1 mutations in the pathogenesis of myeloproliferative neoplasms.
22929312 2012 Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting.
22915647 2012 A novel hierarchical prognostic model of AML solely based on molecular mutations.
22905207 2012 Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.
22897849 2012 ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression.
22542624 2012 Positive regulation of additional sex comb-like 1 gene expression by the pluripotency factor SOX2.
22535592 2012 Acute myeloid leukemia with myelodysplasia-related changes are characterized by a specific molecular pattern with high frequency of ASXL1 mutations.
22489043 2012 Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.
22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
22271902 2012 Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
22058207 2012 Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value.
22031865 2011 ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category.
21923651 2012 ASXL1 mutations in primary and secondary myelofibrosis.
21904853 2012 TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms.
21712540 2011 Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes.
21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
21576631 2011 Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes.
21455215 2011 Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms.
21346257 2011 CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia.
21307773 2011 Genetics of the myeloproliferative neoplasms.
20880116 2010 ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia.
20693432 2010 Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.
20678218 2010 Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias.
20596031 2010 The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration.
20436459 2010 Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB.
20410925 2010 High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression.
20408841 2010 Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations.
20334914 2010 Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.
20182461 2010 Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.
19880879 2010 ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1.
19865112 2010 Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19615732 2009 Defining the human deubiquitinating enzyme interaction landscape.
19609284 2009 Mutations of ASXL1 gene in myeloproliferative neoplasms.
19586940 2009 Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.
19388938 2009 Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
18957548 2008 Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18624398 2008 Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways.
18506748 2008 Identification of copy number gain and overexpressed genes on chromosome arm 20q by an integrative genomic approach in cervical cancer: potential role in progression.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16606617 2006 Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12657473 2003 A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9477319 1998 The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
1349871 1992 Genetic analysis of the additional sex combs locus of Drosophila melanogaster.