項目地址
https://github.com/user-tq/anvcivi
直接用civic下載的文件進(jìn)行簡單的數(shù)據(jù)清洗，使用MANE下載的文件構(gòu)造基因與轉(zhuǎn)錄本的字典(解決annovar的轉(zhuǎn)錄本問題)聂抢，暫只考慮氨基酸改變完全匹配情況琳疏。最結(jié)果暫生成markdown，但由于markdown無法合并單元格书幕，且未區(qū)分癌種台汇，結(jié)果很長篱瞎，實(shí)際分析后一兩個位點(diǎn)突變就很多了。
| AA_match | af | |
|---|---|---|
| 0 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 |
| 1 | PIK3CA:NM_006218:exon2:c.G333C:p.K111N | 0.027 |
| 2 | PIK3CA:NM_006218:exon21:c.A3140G:p.H1047R | 0.03 |
| 3 | KIT:NM_000222:exon17:c.A2447T:p.D816V | 0.021 |
| 4 | EGFR:NM_005228:exon18:c.G2155A:p.G719S | 0.061 |
| 5 | EGFR:NM_005228:exon19:c.2235_2249del:p.E746_A750del | 0.011 |
| 6 | EGFR:NM_005228:exon20:c.2296_2297insTGGCCAGCG:p.V769_D770insASV | 0.02 |
| 7 | EGFR:NM_005228:exon20:c.C2369T:p.T790M | 0.019 |
| 8 | EGFR:NM_005228:exon21:c.T2573G:p.L858R | 0.012 |
| 9 | BRAF:NM_004333:exon15:c.T1799A:p.V600E | 0.026 |
| 10 | KRAS:NM_004985:exon4:c.G436A:p.A146T | 0.015 |
| 11 | KRAS:NM_004985:exon2:c.G38A:p.G13D | 0.017 |
| 12 | KRAS:NM_004985:exon2:c.G35A:p.G12D | 0.019 |
| 13 | MAP2K1:NM_002755:exon2:c.A167C:p.Q56P | 0.068 |
| AA_match | af | disease | drugs | |
|---|---|---|---|---|
| 0 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Neuroblastoma | Binimetinib,Everolimus |
| 1 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Skin Melanoma | Vemurafenib |
| 2 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Skin Melanoma | Selumetinib |
| 3 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Colorectal Cancer | Chemotherapy,Cetuximab |
| 4 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Colorectal Cancer | Dactolisib,Selumetinib |
| 5 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Lung Non-small Cell Carcinoma | Trametinib,Selumetinib |
| 6 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | 0.017 | Ovary Serous Adenocarcinoma | Trametinib |
| 7 | PIK3CA:NM_006218:exon2:c.G333C:p.K111N | 0.027 | Her2-receptor Positive Breast Cancer | Pictilisib |
| 8 | PIK3CA:NM_006218:exon2:c.G333C:p.K111N | 0.027 | Her2-receptor Positive Breast Cancer | Trastuzumab Emtansine |
結(jié)果太長略
| AA_match | disease | drugs | evidence_statement | |
|---|---|---|---|---|
| 0 | NRAS:NM_002524:exon3:c.C181A:p.Q61K | Neuroblastoma | Binimetinib,Everolimus | In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR and MEK Inhibitors synergistically blocked cell growth in NRAS mutant but not wild type cell lines. Single agent MEK inhibition (AZD6244/selumetinib, MEK162 or PD0325901) and single agent mTOR inhibition (Everolimus or AZD8055) also blocked cell growth in NRAS mutant cell lines, whereas single agent PI3K inhibitors or MEK Inhibitors in combination with PIK3CA/AKT inhibitors did not show synergistic effects. |
結(jié)果太長略
