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. 2016 Feb 18;6:21134. doi: 10.1038/srep21134

Table 2. The 22 variants selected for RT-PCR validation.

  Gene Chr Pos dbSNP id SNV type Ref Alt Sample or individual§ icd-ASE
Static ASE
ΔASERNA-seq p-value ΔASERNA-seq amp ΔASERT-PCR amp ASERNA-seq p-value ASERNA-seq amp ASERT-PCR amp
icd-ASE PDE4DIP 1 144873887 rs1699787 syn C T 9 7.9e-07 −1.88 −5.2#      
RALB 2 121050989 rs1065518 3’UTR T A 1 1.4e-02 0.83 0.2      
DFNA5 7 24758753 rs754555* syn C T 4 3.5e-08 −2.32 −2.9#      
MS4A7 11 60152563 rs950803 syn T A 3 1.3e-05 1.21 1.3#      
CTSC 11 88045583 rs217086* non-syn A G 2 1.9e-84 3.39 4.6#      
LILRB1 19 55148487 rs8101605* 3’UTR G A 9 2.5e-12 −1.71 −2.1#      
LILRB2 19 54782919 rs386056 non-syn C T 6 2.0e-08 −1.07 −1.6#      
LILRB2 19 54784130 rs383369 non-syn T C 6 1.7e-13 −1.33 −1.3#      
Static ASE GBP3 1 89474818 rs17433780* non-syn A G 8_T       6.0e-101 −0.26 0.4
GBP3 1 89479063 rs4656077* non-syn G A 8_T       3.5e-47 0.20 −1.4
NOTCH2NL 1 145282405 rs2596058 3’UTR T C 8_U       1.1e-04 0.24 6.2#
NOTCH2NL 1 145282904 rs28713400 3’UTR A G 6_U       2.1e-05 0.26 5.1#
ZDBF2 2 207174316 rs3732084* syn T C 3_T       1.1e-05 0.50 10.3#
ZDBF2 2 207178422 rs1448902* 3’UTR G A 3_T       8.7e-07 0.50 7.5#
KCNMB3 3 178978604 rs7429685* intronic T G 2_U       4.1e-41 0.49 14.4#
KCNMB3 3 178978689 rs62410373* intronic A G 2_U       1.9e-12 0.45 0.9
SLC12A7 5 1057615 rs2241606* syn A G 2_U       2.6e-11 0.29 −0.2
SLC12A7 5 1081767 rs4526148* non-syn C T 2_U       1.4e-09 −0.31 2.3
EPSTI1 13 43542677 rs7324030* intronic C A 3_T       3.8e-05 0.39 −1.8
SYNM 15 99670518 rs1670227* non-syn T C 7_T       2.7e-25 −0.43 −4.2#
SYNM 15 99672722 rs2292288* non-syn A G 7_T       7.1e-16 0.42 7.2#
CPNE7 16 89663072 rs659974* 3’UTR G A 4_T       9.9e-03 −0.35 −8.5#

(#) Cases where the RT-PCR data validated the RNA-seq data (true positives). (*) SNV interrogated by SNP-array (heterozygous in the individual chosen for validation). (§) Sample chosen for validation and for which ASE amplitudes and p-value are shown. N_U and N_T refer to the untreated and LPS treated samples, respectively, of individual N. ASERNA-seq amplitude (amp) for static ASE and ΔASERNA-seq for icd-ASE are defined in Eq.1 and Eq 2, respectively (Methods). ASERT-PCR refers to the difference in cycle-threshold between the two alleles and ΔASERT-PCR = ASERT-PCR(T) − ASERT-PCR(U), where T and U corresponds to the treated and untreated condition. ASERNA-seq p-values: static ASE (modified binomial test), icd-ASE (Fisher’s exact test). P-values were Benjamini-Hochberg multiple testing corrected. Chr, chromosome; Pos, SNV coordinate on chromosome; Ref, reference allele; Alt, alternative allele; icd-ASE, individual condition-dependent ASE; SNV, single nucleotide variant; syn, synonymous exonic; non-syn, non-synonymous exonic; UTR, un-translated region.