Table 2. Genes that are either enriched or depleted in the NCI-60), and are cancer-driver genesa.
Variant identification and effect | |||||
Gene nameb | Functional categoryc | AA impactd | Unique identifierd | dbSNP IDe | NCI-60/ESP5400 frequencyf |
TP53 | Tumor suppressor, DDR, Apoptosis | R116Q | chr17:7577538_C_T | rs11540652 | 538 |
PIK3CA | Oncogene, Protein kinase | chr3:178928178_C_T | 472 | ||
TET2 | Tumor suppressor | S460F | chr4:106156478_C_T | 358 | |
NCOR1 | R121C | chr17:16075191_G_A | rs140151735 | 358 | |
GATA2 | Oncogene | V211V | chr3:128204808_G_C | 358 | |
SETBP1 | V81V | chr18:42281554_G_A | 179 | ||
ASXL1 | Tumor suppressor | A611T | chr20:31022346_G_A | 179 | |
APC | Tumor suppressor, Apoptosis | S140G | chr5:112103053_A_G | rs150973053 | 179 |
ARID1A | Tumor suppressor | R1053H | chr1:27094450_G_A | 179 | |
ARID1B | A1922A | chr6:157528080_G_T | 179 | ||
PRDM1 | Tumor suppressor | A385V | chr6:106553591_C_T | 179 | |
ACVR1B | D502D | chr12:52387882_C_T | 179 | ||
ASXL1 | Tumor suppressor | T557T | chr20:31021672_C_T | 179 | |
SMARCB1 | Tumor suppressor | E201D | chr22:24158958_G_T | rs142218902 | 179 |
BAP1 | Tumor suppressor | chr3:52439102_C_A | rs186001194 | 179 | |
BRCA2 | Tumor suppressor, DDR, Apoptosis | R2784Q | chr13:32944558_G_A | rs80359076 | 179 |
MSH2 | Tumor suppressor, DDR | E198E | chr2:47637460_A_G | 179 | |
CDH1 | Tumor suppressor | V391V | chr16:68847251_C_T | rs148080550 | 179 |
RUNX1 | Tumor suppressor | V137V | chr21:36252870_G_A | 179 | |
MLH1 | Tumor suppressor, DDR | E219A | chr3:37067468_A_C | 179 | |
TSC1 | Tumor suppressor, Protein kinase, Apoptosis | chr9:135782112_C_T | 179 | ||
BRCA2 | Tumor suppressor, DDR, Apoptosis | R2896C | chr13:32950860_C_T | 179 | |
NCOR1 | S1867S | chr17:15961885_G_A | 179 | ||
ARID1B | D1713D | chr6:157527453_C_T | rs189662115 | 179 | |
NF1 | Tumor suppressor | L1954L | chr17:29661968_T_C | 179 | |
TP53 | Tumor suppressor, DDR, Apoptosis | G113S | chr17:7577548_C_T | rs28934575 | 179 |
DNMT1 | S809S | chr19:10260240_C_T | 179 | ||
ABL1 | Oncogene, Protein kinase, Apoptosis | P986P | chr9:133760635_A_G | rs35445683 | 179 |
ATM | Tumor suppressor, DDR, Apoptosis | R32C | chr11:108098524_C_T | rs148061139 | 179 |
PTCH1 | Tumor suppressor | chr9:98241268_G_A | 179 | ||
NOTCH2 | Tumor suppressor, Apoptosis | H1160R | chr1:120479948_T_C | rs142876168 | 179 |
SETBP1 | Q1244R | chr18:42533036_A_G | 179 | ||
SETBP1 | P256P | chr18:42530073_C_T | rs141858699 | 179 | |
NF1 | Tumor suppressor | A2596V | chr17:29684089_C_T | 179 | |
APC | Tumor suppressor, Apoptosis | chr5:112154629_C_T | 179 | ||
CDC73 | Tumor suppressor | chr1:193091510_G_A | 179 | ||
MSH2 | Tumor suppressor, DDR | D487E | chr2:47690244_C_G | rs35107951 | 179 |
ARID1A | Tumor suppressor | A1136A | chr1:27098992_G_A | rs146598030 | 179 |
ATM | Tumor suppressor, DDR, Apoptosis | R337C | chr11:108117798_C_T | rs138398778 | 179 |
ALK | Oncogene | L9L | chr2:30143499_G_C | rs4358080 | 0.092 |
KDM6A | Tumor suppressor | chrX:44913052_T_A | rs5952285 | 0.066 | |
SMARCA4 | Tumor suppressor | D1599D | chr19:11170839_T_C | rs7275 | 0.063 |
Genes selected from the boxed fractions from Figure 3A. Cancer-driver genes are as described previosly [58].
Official gene names as defined by the HUGO Gene Nomenclature Committee (http://www.genenames.org/).
DDR is DNA damage response, and SLC is solute carrier.
Amino acid impact. Example, R116Q indicates a change from R (Arg, arginine) to Q (Gln, glutamine).
Denotes the chromosome number, start location, and the nucleotide change. _* indicates that either an addition (+) or a deletion (−) of nucleotides.
Single nucleotide polymorphisms identifiers as defined at dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/).
Frequency calculated as described in Materials and Methods.