Table 2

A subset of the previously reported allele-specific splice isoforms detected in this study

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]


* Hull et al. [11] did not report that the SNP, rs2295982, disrupts an ESE

Nembaware et al. BMC Genomics 2008 9:265   doi:10.1186/1471-2164-9-265

Open Data