SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE The mutations in GNAQ, GNA11 and EIF1AX were not associated with metastasis, whereas SF3B1 mutations were correlated with low risk of metastasis and demonstrated a protective effect in UM patients in China. 31614358 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE This suggests that the R625 missense SF3B1 mutations and SRSF2 mutations in UM are different compared to the spliceosome gene mutations in hematological cancers, and probably target a different, as yet unknown, set of genes involved in uveal melanoma etiology. 31426461 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease BEFREE The role of SF3B1 gene is unclear at this time but may be related to the development of late metastases among disomy 3 uveal melanoma. 28257297 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. 26683228 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease BEFREE Frequent mutations have been described in the following 5 genes in uveal melanoma (UM): BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. 27123562 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients. 26923342 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE Mutation of SF3B1 has been identified in low-grade uveal melanoma with a good prognosis. 26086698 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE SF3B1 missense mutations were found in the two UMs with no BAP1 mutations. 25361747 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE Our finding of the frameshift deletion (p.H387fs) in exon 4 of SOX10 in UM provides an important insight and complements earlier findings of mutations in GNAQ and SF3B1 on the genomic basis of UM. 24927141 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease CTD_human Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas. 23313955 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE SF3B1 mutations are associated with alternative splicing in uveal melanoma. 23861464 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE Exon 14 of SF3B1, containing the site of recurrent mutations described in uveal melanoma, was sequenced in all samples. 23694694 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease CTD_human Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. 23793026 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 GeneticVariation disease BEFREE Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. 23793026 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease BEFREE Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. 23313955 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.600 Biomarker disease ORPHANET We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing. 23861464 2013