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.