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FBXW7
基本情報
- 遺伝子名
-
F-box and WD repeat domain containing 7
- 慣用名
-
AGO, CDC4, FBW6, FBW7, FBX30, FBXO30, FBXW6, SEL-10, SEL10, hAgo, hCdc4
- 遺伝子分類
-
がん抑制遺伝子
- 遺伝子ID
- 転写産物ID
- 機能分類
-
タンパク質の恒常性の維持
- シグナル伝達経路
-
Protein homeostasis
- 染色体上の位置 (GRCh37/hg19)
-
4q31.3 (chr4:153244033..153332955, complement)
- アミノ酸配列の長さ
-
707
遺伝子マップ
解説
FBXW7は標的タンパクの分解に働くSCFユビキチンリガーゼ複合体のF-boxタンパクであり、標的とするタンパクの基質特異性に関与する。FBXW7の標的には、がん原遺伝子として知られるc-MYC, mTOR, NOTCH1, cyclin EおよびJUNなどが含まれており、これらタンパクの細胞内における量的な恒常性の維持に働くため、がん抑制遺伝子に分類される。
シグナル伝達経路
遺伝子変異総量（Tumor Mutation Burden）の分布TMB
アミノ酸配列上の変異分布
- 低悪性度
神経膠腫 - 多形膠芽腫
- 髄膜腫
- 頭頸部
扁平上皮癌 - 唾液腺癌
- 食道扁平上皮癌
- 胃腺癌
- 小腸癌
- 結腸腺癌
- 直腸腺癌
- 肝細胞癌
- 胆管癌
- 膵腺癌
- 肺腺癌
- 肺扁平上皮癌
- 肺
神経内分泌腫瘍 - 胸膜中皮腫
- 胸腺腫
- 浸潤性乳管癌
- 浸潤性小葉癌
- 化生癌
- 骨肉腫
- 消化管間質腫瘍
- 軟部肉腫
- 子宮頸癌
- 子宮類内膜腺癌
- 上皮性卵巣癌
- 淡明細胞型
腎細胞癌 - 悪性黒色腫
- 有棘細胞癌
ドライバー変異リスト
| 参照配列上の 位置 (GRCh37/hg19) |
参照配列の塩基 | 変異の塩基 | 変異が位置するエクソン番号 | 変異 (アミノ酸 変化) |
変異 (CDS 変化) |
COSMIC登録ID (v92) | がん化との 関連度による 分類 |
変異が検出されたサンプル数 |
|---|---|---|---|---|---|---|---|---|
| chr4:153332598 | G | A | 2 / 12 | p.Q120* | c.358C>T | COSV55898137 | Tier2 | 2 / 368 |
| chr4:153332655 | CT | C | 2 / 12 | p.D101fs | c.300delA | Tier2 | 1 / 368 | |
| chr4:153332681 | G | C | 2 / 12 | p.S92* | c.275C>G | COSV104386633 | Tier2 | 1 / 368 |
| chr4:153332699 | G | T | 2 / 12 | p.S86* | c.257C>A | COSV99905192 | Tier2 | 2 / 368 |
| chr4:153332713 | ATTGTTTTCTT | A | 2 / 12 | p.E78fs | c.233_242delAAGAAAACAA | Tier2 | 1 / 368 | |
| chr4:153332733 | C | A | 2 / 12 | p.G75* | c.223G>T | Tier2 | 1 / 368 | |
| chr4:153332736 | G | A | 2 / 12 | p.Q74* | c.220C>T | Tier2 | 1 / 368 | |
| chr4:153332769 | C | A | 2 / 12 | p.E63* | c.187G>T | Tier2 | 1 / 368 | |
| chr4:153332826 | G | A | 2 / 12 | p.Q44* | c.130C>T | COSV99899260 | Tier2 | 1 / 368 |
| chr4:153332832 | G | A | 2 / 12 | p.Q42* | c.124C>T | Tier2 | 1 / 368 | |
| chr4:153332862 | G | A | 2 / 12 | p.Q32* | c.94C>T | Tier2 | 1 / 368 | |
| chr4:153332916 | G | A | 2 / 12 | p.R14* | c.40C>T | COSV55920408 | Tier2 | 1 / 368 |
| chr4:153332919 | G | A | 2 / 12 | p.R13* | c.37C>T | COSV55916781 | Tier2 | 1 / 368 |
| chr4:153271204 | C | A | 3 / 12 | p.E192* | c.574G>T | Tier2 | 1 / 368 | |
| chr4:153271206 | G | C | 3 / 12 | p.S191* | c.572C>G | COSV99656056 | Tier2 | 1 / 368 |
| chr4:153271214 | G | T | 3 / 12 | p.C188* | c.564C>A | Tier2 | 1 / 368 | |
| chr4:153271249 | C | A | 3 / 12 | p.E177* | c.529G>T | Tier2 | 1 / 368 | |
| chr4:153268097 | C | T | 4 / 12 | p.W237* | c.711G>A | COSV55907222 | Tier2 | 1 / 368 |
| chr4:153268138 | G | A | 4 / 12 | p.R224* | c.670C>T | COSV55899023 | Tier2 | 2 / 368 |
| chr4:153268150 | G | A | 4 / 12 | p.Q220* | c.658C>T | COSV55936792 | Tier2 | 1 / 368 |
| chr4:153258970 | G | T | 5 / 12 | p.S282* | c.845C>A | COSV55899012 | Tier2 | 3 / 368 |
| chr4:153258983 | G | A | 5 / 12 | p.R278* | c.832C>T | COSV55891638 | Tier2 | 18 / 368 |
| chr4:153258986 | G | A | 5 / 12 | p.Q277* | c.829C>T | COSV55917375 | Tier2 | 1 / 368 |
| chr4:153259011 | CAT | C | 5 / 12 | p.M268fs | c.802_803delAT | COSV55902937 | Tier2 | 4 / 368 |
| chr4:153259025 | G | A | 5 / 12 | p.Q264* | c.790C>T | COSV55916003 | Tier2 | 1 / 368 |
| chr4:153259070 | T | A | 5 / 12 | p.K249* | c.745A>T | Tier2 | 1 / 368 | |
| chr4:153259079 | C | A | 5 / 12 | p.G246* | c.736G>T | Tier2 | 1 / 368 | |
| chr4:153259084 | C | T | 5 / 12 | p.W244* | c.731G>A | COSV104381730 | Tier2 | 1 / 368 |
| chr4:153253743 | CTTACCCTCT | C | 6 / 12 | p.E328fs | c.981_985+4delAGAGGGTAA | Tier2 | 1 / 368 | |
| chr4:153253751 | C | A | 6 / 12 | p.E328* | c.982G>T | Tier2 | 1 / 368 | |
| chr4:153253789 | G | GC | 6 / 12 | p.A315fs | c.943dupG | Tier2 | 1 / 368 | |
| chr4:153253791 | CAAAATTCTCCAG | C | 6 / 12 | p.Y310_L314delins* | c.930_941delCTGGAGAATTTT | Tier2 | 1 / 368 | |
| chr4:153253806 | GC | G | 6 / 12 | p.R309fs | c.926delG | Tier2 | 1 / 368 | |
| chr4:153253822 | GC | G | 6 / 12 | p.A304fs | c.910delG | Tier2 | 1 / 368 | |
| chr4:153253843 | TCCAGGAATGAAAG | T | 6 / 12 | p.L293fs | c.877_889delCTTTCATTCCTGG | Tier2 | 1 / 368 | |
| chr4:153253852 | G | T | 6 / 12 | p.S294* | c.881C>A | COSV99656421 | Tier2 | 1 / 368 |
| chr4:153253859 | CAT | C | 6 / 12 | p.Y291fs | c.872_873delAT | Tier2 | 2 / 368 | |
| chr4:153251907 | G | A | 7 / 12 | p.R367* | c.1099C>T | COSV55891887 | Tier2 | 14 / 368 |
| chr4:153251954 | C | T | 7 / 12 | p.W351* | c.1052G>A | Tier2 | 2 / 368 | |
| chr4:153250843 | C | T | 8 / 12 | p.W406* | c.1217G>A | Tier2 | 1 / 368 | |
| chr4:153250877 | C | CT | 8 / 12 | p.V395fs | c.1182dupA | Tier2 | 1 / 368 | |
| chr4:153250883 | G | A | 8 / 12 | p.R393* | c.1177C>T | COSV55892695 | Tier2 | 10 / 368 |
| chr4:153250931 | T | A | 8 / 12 | p.K377* | c.1129A>T | Tier2 | 1 / 368 | |
| chr4:153249384 | C | T | 9 / 12 | p.R465H | c.1394G>A | COSV55891746 | Tier2 | 30 / 368 |
| chr4:153249385 | G | A | 9 / 12 | p.R465C | c.1393C>T | COSV55891008 | Tier1 | 28 / 368 |
| chr4:153249390 | G | GT | 9 / 12 | p.T463fs | c.1387dupA | Tier2 | 1 / 368 | |
| chr4:153249424 | C | A | 9 / 12 | p.E452* | c.1354G>T | Tier2 | 1 / 368 | |
| chr4:153249511 | C | T | 9 / 12 | p.G423R | c.1267G>A | COSV55902795 | Tier2 | 1 / 368 |
| chr4:153247160 | G | A | 10 / 12 | p.Q548* | c.1642C>T | COSV55910404 | Tier2 | 1 / 368 |
| chr4:153247165 | G | T | 10 / 12 | p.S546* | c.1637C>A | COSV99656643 | Tier2 | 2 / 368 |
| chr4:153247225 | C | T | 10 / 12 | p.W526* | c.1577G>A | COSV55924621 | Tier2 | 1 / 368 |
| chr4:153247288 | C | T | 10 / 12 | p.R505H | c.1514G>A | COSV55901126 | Tier2 | 4 / 368 |
| chr4:153247288 | C | A | 10 / 12 | p.R505L | c.1514G>T | COSV55908371 | Tier1 | 4 / 368 |
| chr4:153247289 | G | A | 10 / 12 | p.R505C | c.1513C>T | COSV55891274 | Tier1 | 27 / 368 |
| chr4:153247289 | G | T | 10 / 12 | p.R505S | c.1513C>A | COSV55898451 | Tier2 | 3 / 368 |
| chr4:153247289 | G | C | 10 / 12 | p.R505G | c.1513C>G | COSV55890969 | Tier2 | 2 / 368 |
| chr4:153247328 | G | A | 10 / 12 | p.Q492* | c.1474C>T | COSV55944219 | Tier2 | 1 / 368 |
| chr4:153247366 | C | T | 10 / 12 | p.R479Q | c.1436G>A | COSV55890822 | Tier1 | 16 / 368 |
| chr4:153247366 | C | G | 10 / 12 | p.R479P | c.1436G>C | COSV55894913 | Tier2 | 2 / 368 |
| chr4:153247366 | C | A | 10 / 12 | p.R479L | c.1436G>T | COSV55899054 | Tier2 | 1 / 368 |
| chr4:153247367 | G | C | 10 / 12 | p.R479G | c.1435C>G | COSV55894999 | Tier2 | 2 / 368 |
| chr4:153247367 | G | A | 10 / 12 | p.R479* | c.1435C>T | COSV55894141 | Tier2 | 3 / 368 |
| chr4:153245339 | G | A | 11 / 12 | p.Q618* | c.1852C>T | COSV55953735 | Tier2 | 1 / 368 |
| chr4:153245350 | A | T | 11 / 12 | p.L614* | c.1841T>A | Tier2 | 1 / 368 | |
| chr4:153245486 | C | A | 11 / 12 | p.E569* | c.1705G>T | Tier2 | 2 / 368 | |
| chr4:153245506 | G | T | 11 / 12 | p.S562* | c.1685C>A | COSV55891704 | Tier2 | 1 / 368 |
| chr4:153244091 | C | T | 12 / 12 | p.R689Q | c.2066G>A | COSV55900091 | Tier2 | 1 / 368 |
| chr4:153244124 | G | C | 12 / 12 | p.S678* | c.2033C>G | COSV55897853 | Tier2 | 1 / 368 |
| chr4:153244143 | C | CA | 12 / 12 | p.V672fs | c.2013dupT | Tier2 | 1 / 368 | |
| chr4:153244184 | C | T | 12 / 12 | p.R658Q | c.1973G>A | COSV55905466 | Tier2 | 2 / 368 |
| chr4:153244185 | G | A | 12 / 12 | p.R658* | c.1972C>T | COSV55892162 | Tier2 | 8 / 368 |
| chr4:153244211 | C | T | 12 / 12 | p.W649* | c.1946G>A | COSV99654862 | Tier2 | 1 / 368 |
| chr4:153244266 | G | A | 12 / 12 | p.Q631* | c.1891C>T | Tier2 | 1 / 368 | |
| chr4:153244287 | G | A | 12 / 12 | p.Q624* | c.1870C>T | Tier2 | 1 / 368 |