Table 2 A subset of the previously reported allele-specific splice isoforms detected in this study
From: Genome-wide survey of allele-specific splicing in humans
Gene | Exon | mSNP (p-value) | mSNP (p-value from exon array data) | srSNP (exon-array p-value) | Cis-element | References |
|---|---|---|---|---|---|---|
CD45 | Exon 4 | rs12129883 (0.020551) | --- | --- | ESS | [54] |
COL5A1 | Exon 65 | rs13946 (0.046) | --- | --- | Acceptor site | [55] |
ETV4 | Exon 3 | rs3765174 (0.014) | --- | --- | NAGNAG acceptor | [39] |
GABRR1 | Exon 2 | rs12200969 (0.034) | --- | rs4590242-NA- | NAGNAG acceptor | [39] |
ITPA | Exon 2 and Exon 3 | rs13830 (0.030) | 0.0042 | --- | Exonic splicing silencer element in exon 2 | [56] |
MUC1 | Exon 2 | rs4072037 (0.0011) | --- | --- | Acceptor site | [57] |
OAS1 | Exon 7 | rs2660 (0.00063) | 2.78 × 10-15 | rs10774671 (< 10-16) | Acceptor | [33] |
PMM2 | Exon 5 | rs2072688 (0.0027) | --- | --- | ESE | [44] |
RBM23 | Exon 6 | rs1951119 (1.0 × 10-6) | 0.0140 | rs2295682 (0.0027) | SRp40* | [11] |
UROD | Exon 4 | rs1804886 (0.0027) | --- | --- | --- | [58] |