Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE We also verified aberrant splicing of key genes USP9X, USP24 (deubiquitinating enzymes), LUC7L2 (splice factor) and EED (PRC2 component) in MDS harboring small deletions of SRSF2. 31680297 2020
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 AlteredExpression group BEFREE Consistent with this, co-expression of mutant IDH2 and SRSF2 resulted in lethal myelodysplasia with proliferative features in vivo and enhanced self-renewal in a manner not observed with either mutation alone. 31578525 2019
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE In this study, we characterized MDS-associated SRSF2 mutants (P95H, P95L, and P95R). 31040863 2019
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE In conclusion, SRSF2 mutations were significantly related to the shorter OS in patients with MDS which may consider as an adverse prognostic risk factor. 29757120 2018
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE Recurrent mutations in the splicing factor SRSF2 are associated with poor clinical outcomes in myelodysplastic syndromes (MDS). 29858584 2018
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE A total of 10 cohort studies, covering 1864 patients with de novo MDS and 294 patients with SRSF2 mutations, were included in the final meta-analysis. 28953917 2017
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE To test this hypothesis, we engineered mice to express a mutated allele of serine/arginine-rich splicing factor 2 (Srsf2(P95H))-which commonly occurs in individuals with MDS and AML-in an inducible, hemizygous manner in hematopoietic cells. 27135740 2016
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE As an example, missplicing of the enhancer of zeste homolog 2 histone methyltransferase premRNA in response to hot spot mutation of the splicing factor SRSF2 was found to participate to the pathogenesis of myelodysplastic syndrome. 26575690 2016
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE In total, 122 patients with MDS (30%), acute myeloid leukemia (51%), myeloproliferative neoplasms (MPN) (11%), and MDS/MPN (8%) receiving a HCT from 2003 to 2012 were evaluated for mutations in U2AF1 and SRSF2 by direct sequencing. 26799334 2016
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 AlteredExpression group BEFREE MDS-related P95 point mutants of SRSF2 were expressed and phosphorylated at similar levels as wildtype SRSF2. 27552991 2016
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE RNA-seq analyses of telomere dysfunctional CMP identified aberrantly spliced transcripts linked to pathways relevant to MDS pathogenesis such as genome stability, DNA repair, chromatin remodeling, and histone modification, which are also enriched in mouse CMP haploinsufficient for SRSF2 and in CD34(+) CMML patient cells harboring SRSF2 mutation. 25965571 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE We also demonstrated that the U2AF1 and SRSF2 mutations were associated with an unfavorable prognostic impact in MDS patients without RS. 26115659 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE BCR are not common in MDS and are associated with poor survival, which might be influenced by the presence of SRSF2 mutation. 25977195 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myelodysplastic syndromes, were identified only in those aged >70 years, with several individuals harboring more than one such mutation. 25732814 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE Development of a high-resolution melting curve analysis screening test for SRSF2 splicing factor gene mutations in myelodysplastic syndromes. 25445211 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE These findings suggest that intact SRSF2 is essential for the functional integrity of the hematopoietic system and that its mutations likely contribute to development of myelodysplastic syndromes. 26124281 2015
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2). 24903747 2014
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodysplasia and monocytosis, including but not limited to, chronic myelomonocytic leukemia. 24970933 2014
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE SRSF2 mutations were identified in 16 (44%) of 36 CMMLs, including 1 of 3 cases with associated systemic mastocytosis, 4 (20%) of 20 Ph- MPN, and 1 (4.5%) of 22 MDS. 25305095 2014
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution. 24115220 2014
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE The aim of the present study was to develop a new approach to screen SRSF2 mutation and analyze the clinical relevance of SRSF2 mutations in Chinese MDS. 25541999 2014
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1). 23645565 2013
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors. 23280334 2013
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 GeneticVariation group BEFREE SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis. 23335386 2013
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
0.500 Biomarker group BEFREE Among spliceosome component mutations, those involving SF3B1 are most frequent in myelodysplastic syndromes with ring sideroblasts (MDS-RS; ∼ 75% incidence) and SRSF2 in chronic myelomonocytic leukemia (∼ 28% incidence). 22968464 2012