Supplementary Table 1.
Effect of SNPs on splicing and transcription factor binding
| Gene and SNP ID | Human Splicing Finder Analyses | TRANSFAC Analyses | |
|---|---|---|---|
| CRYAA (rs3788059) | Signal | Interpretation | Loss of REV-ErbA and gain of HNF-1 and T3R transcription factor binding site |
| Alteration of auxiliary sequences | Significant alteration of ESE/ESS motifs ratio (10) | ||
| New acceptor splice site | Activation of a cryptic acceptor site. Potential alteration of splicing | ||
| HSF acceptor site (matrix AG) | ACCAGCCAGACGAT > ACCAGCCAGAAGAT (chr21:43170137; 39.44 > 67.31 (70.66%)) | ||
| CRYAB (rs2070894) | No significant impact on splicing signals. | No alteration in splicing | No changes in TF binding sites |
| CRYBA4 (rs2071861) | No significant impact on splicing signals. | No alteration in splicing | No changes in TF binding sites |
| CRYBB2 (rs5752083) | Alteration of auxiliary sequences | Significant alteration of ESE/ESS motifs ratio (6) | Loss of Sp1, Rar-alph, Rev-ErbA, RAR-beta and ER and gain of YY1 transcription factor binding site |
| CRYBB2 (rs5996863) | Upstream variant | Not applicable | Loss of TF Sp1 and CP2 transcription factor binding site |
SNP: Single nucleotide polymorphism, HSF: Human Splicing Finder, HNF: Hepatocyte nuclear factor, TF: Transcription factor, ESS: Exon splicing silencer, ESE: Exon splicing enhancer