Table 1. Mutations identified in SP-2509 drug resistant A673 cells.
Rank | Position | Gene | Loc in gene | Effect | HGVS | Population (%) | |
---|---|---|---|---|---|---|---|
1 | 17q12 | MRPL45 | mitochondrial ribosomal protein L45 | CS | Stopgain | p.Glu53* | 88.4% |
2 | 15q13.1 | OCA2 | OCA2 melanosomal transmembrane protein | splice_site | c.1843-1G>T | 45.2% | |
3 | 9q34.11 | HMCN2 | hemicentin 2 | CS | NS-SNV | p.Ala352Glu | 45.1% |
4 | 1q25.1 | SERPINC1 | serpin family C member 1 | CS | NS-SNV | p.Ser169Ala | 44.3% |
5 | 15q11.2 | MAGEL2 | MAGE family member | CS | NS-SNV | p.Thr1158Pro | 42.9% |
6 | 1p34.3 | GJB4 | gap junction protein beta 4 | CS | NS-SNV | p.Asp118Glu | 42.2% |
7 | 1p36.12 | ALPL | alkaline phosphatase, liver/bone/kidney | CS | NS-SNV | p.Ala503Thr | 39.9% |
8 | 1p36.12 | E2F2 | E2F transcription factor 2 | EISR | c.738-9C>A | 39.4% | |
9 | 5p15.31 | SEMA5A | semaphorin 5A | CS | NS-SNV | p.Asp720Glu | 39.1% |
10 | 6p12.3 | PKHD1 | PKHD1, fibrocystin/polyductin | CS | NS-SNV | p.Gly3809Cys | 39.0% |
11 | 19q13.12 | ZNF781 | zinc finger protein 781 | CS | Startloss | 38.7% | |
12 | 16p11.2 | APOBR | apolipoprotein B receptor | CS | NS-SNV | p.Leu409Arg | 38.7% |
13 | 8p21.3 | SH2D4A | SH2 domain containing 4A | CS | NS-SNV | p.Pro89Thr | 38.4% |
14 | 17q25.3 | CSNK1D | casein kinase 1 delta | CS | NS-SNV | p.Arg279Cys | 38.3% |
15 | 1p13.3 | LAMTOR5 | late endosomal/lysosomal adaptor, | CS | NS-SNV | p.Ala135Asp | 36.5% |
16 | 11q23.3 | CBL | Cbl proto-oncogene | EISR | c.444-9C>A | 36.0% | |
17 | 6p21.1 | MRPS10 | mitochondrial ribosomal protein S10 | CS | Stopgain | p.Glu146* | 35.6% |
18 | 12q24.13 | TPCN1 | two pore segment channel 1 | CS | NS-SNV | p.Gly779Val | 31.4% |
19 | Xq11.2 | MTMR8 | myotubularin related protein 8 | CS | NS-SNV | Arg541Leu | 29.9% |
20 | 6p21.32 | HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | CS | NS-SNV | p.Ser119Tyr | 28.3% |
21 | 11p15.5 | IRF7 | interferon regulatory factor 7 | CS | NS-SNV | p.Arg109Leu | 27.7% |
22 | Xq12 | HEPH | hephaestin | CS | NS-SNV | p.Tyr789Cys | 11.1% |
23 | 14q32.33 | AHNAK2 | AHNAK nucleoprotein 2 | CS | NS-SNV | p.Lys89Asn | 11.0% |
Abbreviations: CS: Coding sequence, EISR: Extended intronic splice region, NS-SNV: Non-synonymous single nucleotide variant.