Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.
Cole YC et al.
Cancers, 2022
36077643 (PubMed )
Supplement: cancers-14-04105-s001.zip › cancers-1858458-supplementary.pdf
Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.
Yu L et al.
Molecular Oncology, 2022
34706158 (PubMed )
Supplement: MOL2-16-607-s006.xls › TCGA_UM_dataset
The AMP-dependent kinase pathway is upregulated in BAP1 mutant uveal melanoma.
Chua V et al.
Pigment Cell & Melanoma Research, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Impact of Alternative Splicing Variants on Liver Cancer Biology.
Marin JJG et al.
Cancers, 2021
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.
Akin-Bali DF
Ophthalmic Genetics, 2021
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2
Genetic associations between genes in the renin-angiotensin-aldosterone system and renal disease: a systematic review and meta-analysis.
Smyth LJ et al.
Bmj Open, 2019
31048445 (PubMed )
Supplement: bmjopen-2018-026777supp001.pdf
A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.
Foglizzo M et al.
Nature Communications, 2018
30258054 (PubMed )
Supplement: 41467_2018_6186_MOESM1_ESM.pdf
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
Piva F et al.
Oncotarget, 2015
BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
Morrison A et al.
Plos One, 2015
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