Table 5 Top 15 nonsynonymous exonic SNV features in NSCLC
Gene | dbSNP ID | Locus (Chr:bp) | Variant | Class | Description |
|---|---|---|---|---|---|
MTRR | rs1802059 | 5:7878179 | C →T | DF | Variants in gene are associated with NSCLC risk [77] |
TACC3 | rs17680881 | 4:1732978 | G →A | R | High expression of TACC3 associated with poor prognosis in NSCLC [37] |
TACC3 | rs1063743 | 4:1729988 | G →A | R | High expression of TACC3 associated with poor prognosis in NSCLC [37] |
EXOSC7 | rs6794 | 3:45052775 | G →C | DF | Downregulated in papillary thyroid cancer; component of exosome [31] |
VPS8 | rs3821750 | 3:184766301 | T →C | DF | Vacular protein sorting 8 homolog [68] |
SACM1L | rs1468542 | 3:45779136 | A →T | DF | Phosphatidylinositol-4-phosphate phosphatase activity [68] |
ADD1 | rs4961 | 4:2906707 | G →T | R | Specific variant is associated with hyper-tension [45]; regulates PPAR- γ which is involved in cancer [44] |
PJA2 | rs246105 | 5:108672946 | C →T | R | Presence of FER-PJA2 chimeras are associated with poor post-operative NSCLC survival [41]; over-expressed in thryoid cancer [14] |
TACC3 | rs17132047 | 4:1729953 | G →A | R | Higher expression of TACC3 associated with poor prognosis in NSCLC [37] |
PEMT | rs897453 | 17:17425631 | C →T | R | Increased expression of PEMT in NSCLC patients predict shorter survival [89] |
CLIM1 | rs2296961 | 10:97023630 | T →C | DF | Upregulated in breast cancer; cytoskeleton adapter protein; regulates estrogen receptor [36] |
HS1 | rs2070180 | 3:121351338 | C →T | R | Over-expression associated with poor survival in leukemia [12] |
CHMP4A | rs2295322 | 14:24679877 | C →T | R | Over-expression associated with recurrent ovarian cancer [7] |
CEACAM6 | rs11548735 | 19:42265889 | G →T | DF | Carcinoembryonic antigen-related cell adhesion molecule, tumor marker in cancer [9] |
PLA2G7 | rs1805017 | 6:46684222 | C →T | DF | Associated with aggressive prostate cancer [76]; specific variant association with protection from coronary heart disease [83] |