IndraLab

Statements


5 | 4 2

reach
"In addition, physical interactions between RBM39 and SF3A1/2/3, SF3B4, PRPF8 and MBNL1 have also been reported (Figure 5A) (10,83)."

No evidence text available

No evidence text available

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reach
"A heatmap of the enrichment of snRNA-binding proteins showed validated patterns, with the specific binding of PRPF8 and SF3B4 to U4/5/6 and U2 snRNAs, respectively (Figure 5E)."

No evidence text available

reach
"Utilizing the publicly available GnomAD32 database, we replicate findings where regions with known RBP function are more likely to contain rare (minor allele frequency [MAF] < 0.1%) and disruptive (Δln(LR) < −0.5) variants (Figure 7C, Mann-Whitney test p < 0.001).33 For example, rare variants disrupting SF3B4 and PRPF8 binding are enriched in proximal introns near 5′ SS and 3′ SS, respectively, resonating with the known splice-site-defining function of both spliceosomal proteins."

reach
"To explore potential combinatorial binding between SF3B4 and PRPF8, the likelihood of dual binding was juxtaposed with other clusters, encompassing those with solitary binding from either RBP."

No evidence text available

sparser
"A heatmap of the enrichment of snRNA-binding proteins showed validated patterns, with the specific binding of PRPF8 and SF3B4 to U4/5/6 and U2 snRNAs, respectively ( xref E)."

sparser
"Utilizing the publicly available GnomAD xref database, we replicate findings where regions with known RBP function are more likely to contain rare (minor allele frequency [MAF] < 0.1%) and disruptive ( Δ ln(LR) < −0.5) variants ( xref C, Mann-Whitney test p  < 0.001). xref For example, rare variants disrupting SF3B4 and PRPF8 binding are enriched in proximal introns near 5′ SS and 3′ SS, respectively, resonating with the known splice-site-defining function of both spliceosomal proteins."