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APC

基本情報

遺伝子名
APC regulator of WNT signaling pathway
慣用名
BTPS2、DESMD、DP2、DP2.5、DP3、GS、PPP1R46
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
分化
シグナル伝達経路
WNT
染色体上の位置 (GRCh37/hg19)
5q22.2 (chr5:112090588..112179823)
アミノ酸配列の長さ
2,843

遺伝子マップ

解説

APCはWNTシグナルのメディエーターであるβ-カテニンを制御するβ-カテニン分解複合体の構成分子であり、WNTシグナルの抑制に働く。WNTリガンドの非結合時におけるβ-カテニンのユビキチン化に関与し、プロテアソームによるβ-カテニンの分解を誘導する。そのため、APCの機能喪失はWNTシグナルの活性化をもたらす。生殖細胞系列変異は、家族性大腸腺腫症 (FAP)との関連が良く知られている。体細胞変異は、様々ながん種においてみられるが、特に結腸直腸癌における頻度が高く60~80%の症例において認められる。

シグナル伝達経路

がん種別変異頻度

遺伝子変異

コピー数変化

遺伝子変異総量(Tumor Mutation Burden)の分布

アミノ酸配列上の変異分布

がん種毎の頻度情報

  • 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

  • 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
chr5:112102885 G A 4 / 17   c.221-1G>A   Tier1 1 / 1276
chr5:112103044 A AG 5 / 17 p.S127fs c.380dupG   Tier1 1 / 1276
chr5:112111325 G C 5 / 17   c.423-1G>C COSV57323544 Tier1 1 / 1276
chr5:112111325 G T 5 / 17   c.423-1G>T COSV57351315 Tier1 1 / 1276
chr5:112111384 C T 6 / 17 p.Q161* c.481C>T COSV57342715 Tier1 1 / 1276
chr5:112116511 A T 7 / 17 p.R186* c.556A>T COSV99969101 Tier1 1 / 1276
chr5:112116517 C T 7 / 17 p.Q188* c.562C>T   Tier1 1 / 1276
chr5:112116517 CA C 7 / 17 p.Q188fs c.564delA   Tier1 1 / 1276
chr5:112116523 G T 7 / 17 p.E190* c.568G>T COSV57345794 Tier1 4 / 1276
chr5:112116538 C T 7 / 17 p.Q195* c.583C>T COSV57393167 Tier1 2 / 1276
chr5:112116556 G T 7 / 17 p.E201* c.601G>T   Tier1 1 / 1276
chr5:112116559 G T 7 / 17 p.E202* c.604G>T COSV57381290 Tier1 1 / 1276
chr5:112116576 C A 7 / 17 p.C207* c.621C>A   Tier1 1 / 1276
chr5:112116586 G T 7 / 17 p.E211* c.631G>T COSV99964925 Tier1 1 / 1276
chr5:112116589 A T 7 / 17 p.K212* c.634A>T COSV57380778 Tier1 1 / 1276
chr5:112116592 C T 7 / 17 p.R213* c.637C>T COSV57321978 Tier1 44 / 1276
chr5:112116598 C T 7 / 17 p.Q215* c.643C>T COSV57367040 Tier1 1 / 1276
chr5:112128141 A G 7 / 17   c.646-2A>G COSV57347956 Tier1 1 / 1276
chr5:112128143 C T 8 / 17 p.R216* c.646C>T COSV57320867 Tier1 61 / 1276
chr5:112128149 A ATAGCC 8 / 17 p.R220fs c.653_657dupTAGCC   Tier1 1 / 1276
chr5:112128164 C T 8 / 17 p.Q223* c.667C>T COSV99966134 Tier1 1 / 1276
chr5:112128191 C T 8 / 17 p.R232* c.694C>T COSV57320753 Tier1 43 / 1276
chr5:112128196 GC G 8 / 17 p.L234fs c.700delC   Tier1 1 / 1276
chr5:112128206 TC T 8 / 17 p.Q238fs c.712delC COSV57350821 Tier1 1 / 1276
chr5:112128209 C T 8 / 17 p.Q238* c.712C>T COSV57326494 Tier1 2 / 1276
chr5:112151204 C T 10 / 17 p.R283* c.847C>T COSV57325157 Tier1 42 / 1276
chr5:112151220 CAGCCAGTG C 10 / 17 p.A289fs c.864_871delAGCCAGTG   Tier1 1 / 1276
chr5:112151250 ACT A 10 / 17 p.S299fs c.896_897delCT COSV57390110 Tier1 3 / 1276
chr5:112151261 C T 10 / 17 p.R302* c.904C>T COSV57324169 Tier1 13 / 1276
chr5:112151273 AG A 10 / 17 p.S306fs c.917delG   Tier1 1 / 1276
chr5:112151280 TG T 10 / 17 p.G309fs c.926delG COSV57335421 Tier1 1 / 1276
chr5:112151288 A T 10 / 17 p.K311* c.931A>T COSV104567730 Tier1 1 / 1276
chr5:112151291 G A 10 / 17   c.933+1G>A   Tier1 1 / 1276
chr5:112154662 G T 10 / 17   c.934-1G>T   Tier1 1 / 1276
chr5:112154679 C A 11 / 17 p.S317* c.950C>A   Tier1 1 / 1276
chr5:112154717 A AT 11 / 17 p.M330fs c.989dupT   Tier1 1 / 1276
chr5:112154723 C T 11 / 17 p.R332* c.994C>T COSV57320525 Tier1 5 / 1276
chr5:112154736 CTA C 11 / 17 p.M337fs c.1009_1010delAT   Tier1 1 / 1276
chr5:112154829 CTG C 11 / 17 p.V368fs c.1102_1103delGT   Tier1 2 / 1276
chr5:112154939 ATCCGAGTCCT A 11 / 17 p.R405fs c.1213_1222delCGAGTCCTTC   Tier1 1 / 1276
chr5:112154942 C T 11 / 17 p.R405* c.1213C>T COSV57322404 Tier1 3 / 1276
chr5:112154963 C T 11 / 17 p.Q412* c.1234C>T COSV57324327 Tier1 1 / 1276
chr5:112154967 T TA 11 / 17 p.R414fs c.1239dupA COSV57357703 Tier1 1 / 1276
chr5:112154975 T TG 11 / 17 p.Y416fs c.1246_1247insG   Tier1 1 / 1276
chr5:112154977 C A 11 / 17 p.Y416* c.1248C>A   Tier1 1 / 1276
chr5:112154995 GT G 11 / 17 p.W423fs c.1267delT   Tier1 1 / 1276
chr5:112154998 G A 11 / 17 p.W423* c.1269G>A COSV57366795 Tier1 2 / 1276
chr5:112154999 C T 11 / 17 p.Q424* c.1270C>T COSV99966353 Tier1 3 / 1276
chr5:112155032 A T 11 / 17 p.K435* c.1303A>T   Tier1 1 / 1276
chr5:112155037 TCCAA T 11 / 17 p.P437fs c.1309_1312delCCAA   Tier1 1 / 1276
chr5:112155037 TC T 11 / 17 p.P437fs c.1310delC   Tier1 1 / 1276
chr5:112155040 AAGT A 11 / 17   c.1312+1_1312+3delGTA   Tier1 1 / 1276
chr5:112155042 G A 11 / 17   c.1312+1G>A COSV57343038 Tier1 4 / 1276
chr5:112155042 G T 11 / 17   c.1312+1G>T COSV57326024 Tier1 2 / 1276
chr5:112155042 G C 11 / 17   c.1312+1G>C COSV57388892 Tier1 1 / 1276
chr5:112155043 T C 11 / 17   c.1312+2T>C COSV57403622 Tier1 2 / 1276
chr5:112155043 T G 11 / 17   c.1312+2T>G   Tier1 1 / 1276
chr5:112157626 CTG C 12 / 17 p.V452fs c.1354_1355delGT COSV57329208 Tier1 3 / 1276
chr5:112157650 CA C 12 / 17 p.F458fs c.1371delA   Tier1 1 / 1276
chr5:112157650 C A 12 / 17 p.S457* c.1370C>A COSV57336845 Tier1 5 / 1276
chr5:112157670 C CA 12 / 17 p.H464fs c.1391dupA   Tier1 1 / 1276
chr5:112162803 A G 12 / 17   c.1409-2A>G COSV57329775 Tier1 1 / 1276
chr5:112162804 G T 12 / 17   c.1409-1G>T   Tier1 1 / 1276
chr5:112162804 G A 12 / 17   c.1409-1G>A COSV57336165 Tier1 3 / 1276
chr5:112162807 G T 13 / 17 p.G471* c.1411G>T   Tier1 2 / 1276
chr5:112162813 C T 13 / 17 p.Q473* c.1417C>T   Tier1 3 / 1276
chr5:112162825 G T 13 / 17 p.E477* c.1429G>T COSV57371380 Tier1 1 / 1276
chr5:112162828 TTA T 13 / 17 p.L478fs c.1434_1435delAT   Tier1 1 / 1276
chr5:112162834 C T 13 / 17 p.Q480* c.1438C>T COSV57355920 Tier1 1 / 1276
chr5:112162842 CTG C 13 / 17 p.C483fs c.1449_1450delTG COSV57394451 Tier1 1 / 1276
chr5:112162875 C G 13 / 17 p.Y493* c.1479C>G   Tier1 1 / 1276
chr5:112162878 TA T 13 / 17 p.I495fs c.1483delA   Tier1 1 / 1276
chr5:112162891 C T 13 / 17 p.R499* c.1495C>T COSV57322064 Tier1 19 / 1276
chr5:112162896 T A 13 / 17 p.Y500* c.1500T>A COSV57348713 Tier1 1 / 1276
chr5:112162915 AAC A 13 / 17 p.N507fs c.1520_1521delAC   Tier1 1 / 1276
chr5:112162917 CT C 13 / 17 p.L508fs c.1523delT   Tier1 1 / 1276
chr5:112162945 G A 13 / 17   c.1548+1G>A COSV99965848 Tier1 3 / 1276
chr5:112162945 G T 13 / 17   c.1548+1G>T COSV57403470 Tier1 2 / 1276
chr5:112162946 T C 13 / 17   c.1548+2T>C COSV104378713 Tier1 1 / 1276
chr5:112163652 C A 14 / 17 p.C525* c.1575C>A COSV57366014 Tier1 1 / 1276
chr5:112163671 C T 14 / 17 p.Q532* c.1594C>T COSV57364356 Tier1 2 / 1276
chr5:112163677 A T 14 / 17 p.K534* c.1600A>T COSV57337913 Tier1 5 / 1276
chr5:112163698 C T 14 / 17 p.Q541* c.1621C>T COSV57345708 Tier1 3 / 1276
chr5:112164586 C T 15 / 17 p.R554* c.1660C>T COSV57321615 Tier1 4 / 1276
chr5:112164616 C T 15 / 17 p.R564* c.1690C>T COSV57321509 Tier1 3 / 1276
chr5:112170646 A G 15 / 17   c.1744-2A>G COSV57388372 Tier1 1 / 1276
chr5:112170647 G A 15 / 17   c.1744-1G>A COSV57360238 Tier1 1 / 1276
chr5:112170652 C A 16 / 17 p.S583* c.1748C>A COSV57358531 Tier1 3 / 1276
chr5:112170659 CAA C 16 / 17 p.S587fs c.1758_1759delAA   Tier1 1 / 1276
chr5:112170682 G A 16 / 17 p.W593* c.1778G>A COSV57329332 Tier1 1 / 1276
chr5:112170688 T A 16 / 17 p.L595* c.1784T>A   Tier1 1 / 1276
chr5:112170691 C G 16 / 17 p.S596* c.1787C>G COSV57392461 Tier1 1 / 1276
chr5:112170701 C A 16 / 17 p.C599* c.1797C>A   Tier1 1 / 1276
chr5:112170723 TGTGCTGTAGA T 16 / 17 p.C607fs c.1820_1829delGTGCTGTAGA   Tier1 1 / 1276
chr5:112170761 TCTTA T 16 / 17 p.Y622fs c.1863_1866delTTAC COSV57363629 Tier1 1 / 1276
chr5:112170762 CT C 16 / 17 p.T621fs c.1860delT COSV57355198 Tier1 1 / 1276
chr5:112170768 T TA 16 / 17 p.Y622fs c.1865dupA COSV57356987 Tier1 1 / 1276
chr5:112170776 CCAGA C 16 / 17 p.N627fs c.1875_1878delGACA COSV57325513 Tier1 2 / 1276
chr5:112170779 G GACAA 16 / 17 p.T628fs c.1879_1882dupAACA   Tier1 1 / 1276
chr5:112170781 CAA C 16 / 17 p.N627fs c.1879_1880delAA   Tier1 1 / 1276
chr5:112170792 GC G 16 / 17 p.I631fs c.1890delC   Tier1 1 / 1276
chr5:112170806 TG T 16 / 17 p.G635fs c.1904delG   Tier1 1 / 1276
chr5:112170820 T A 16 / 17 p.L639* c.1916T>A   Tier1 1 / 1276
chr5:112170820 T TA 16 / 17 p.R640fs c.1917dupA   Tier1 1 / 1276
chr5:112170863 G C 16 / 17   c.1958+1G>C COSV57355367 Tier1 2 / 1276
chr5:112170864 T C 16 / 17   c.1958+2T>C COSV57322993 Tier1 2 / 1276
chr5:112173249 G A 16 / 17   c.1959-1G>A COSV99964294 Tier1 1 / 1276
chr5:112173251 C T 17 / 17 p.Q654* c.1960C>T COSV57338447 Tier1 1 / 1276
chr5:112173258 TAAGA T 17 / 17 p.E658fs c.1968_1971delAAGA   Tier1 1 / 1276
chr5:112173260 A T 17 / 17 p.R657* c.1969A>T   Tier1 1 / 1276
chr5:112173263 G T 17 / 17 p.E658* c.1972G>T COSV99965311 Tier1 1 / 1276
chr5:112173285 T G 17 / 17 p.L665* c.1994T>G   Tier1 1 / 1276
chr5:112173290 C T 17 / 17 p.Q667* c.1999C>T COSV57321449 Tier1 1 / 1276
chr5:112173299 A T 17 / 17 p.K670* c.2008A>T COSV57339118 Tier1 4 / 1276
chr5:112173305 CAT C 17 / 17 p.H672fs c.2016_2017delTA COSV57327700 Tier1 2 / 1276
chr5:112173346 G A 17 / 17 p.W685* c.2055G>A COSV57399567 Tier1 2 / 1276
chr5:112173354 C G 17 / 17 p.S688* c.2063C>G COSV104567622 Tier1 1 / 1276
chr5:112173368 A T 17 / 17 p.K693* c.2077A>T COSV57341126 Tier1 2 / 1276
chr5:112173387 G A 17 / 17 p.W699* c.2096G>A   Tier1 1 / 1276
chr5:112173388 G A 17 / 17 p.W699* c.2097G>A COSV57342069 Tier1 1 / 1276
chr5:112173398 GC G 17 / 17 p.A703fs c.2108delC   Tier1 1 / 1276
chr5:112173448 TA T 17 / 17 p.M720fs c.2158delA   Tier1 1 / 1276
chr5:112173452 GGAAGT G 17 / 17 p.S722fs c.2163_2167delAAGTG   Tier1 1 / 1276
chr5:112173512 A AAT 17 / 17 p.M743fs c.2224_2225dupAT   Tier1 1 / 1276
chr5:112173515 AT A 17 / 17 p.M743fs c.2226delT   Tier1 1 / 1276
chr5:112173531 C G 17 / 17 p.S747* c.2240C>G COSV99966747 Tier1 1 / 1276
chr5:112173531 C A 17 / 17 p.S747* c.2240C>A COSV57366696 Tier1 1 / 1276
chr5:112173548 CAT C 17 / 17 p.H753fs c.2258_2259delAT   Tier1 1 / 1276
chr5:112173549 ATG A 17 / 17 p.V754fs c.2260_2261delGT   Tier1 1 / 1276
chr5:112173560 C T 17 / 17 p.Q757* c.2269C>T COSV57388933 Tier1 1 / 1276
chr5:112173560 CAAAA C 17 / 17 p.K758fs c.2271_2274delAAAA   Tier1 1 / 1276
chr5:112173572 G T 17 / 17 p.E761* c.2281G>T COSV57321824 Tier1 1 / 1276
chr5:112173578 G T 17 / 17 p.E763* c.2287G>T COSV57350231 Tier1 2 / 1276
chr5:112173582 T A 17 / 17 p.L764* c.2291T>A COSV57390091 Tier1 1 / 1276
chr5:112173590 C T 17 / 17 p.Q767* c.2299C>T COSV57328302 Tier1 3 / 1276
chr5:112173600 C G 17 / 17 p.S770* c.2309C>G COSV57394159 Tier1 3 / 1276
chr5:112173602 G T 17 / 17 p.E771* c.2311G>T COSV57382493 Tier1 2 / 1276
chr5:112173610 TG T 17 / 17 p.D774fs c.2320delG   Tier1 1 / 1276
chr5:112173622 C CAATTT 17 / 17 p.S780fs c.2334_2338dupTTTAA   Tier1 1 / 1276
chr5:112173627 T G 17 / 17 p.L779* c.2336T>G COSV57328998 Tier1 1 / 1276
chr5:112173648 GT G 17 / 17 p.S787fs c.2358delT   Tier1 1 / 1276
chr5:112173656 C T 17 / 17 p.Q789* c.2365C>T COSV57340156 Tier1 3 / 1276
chr5:112173660 GAC G 17 / 17 p.H791fs c.2373_2374delCA COSV57361804 Tier1 1 / 1276
chr5:112173665 A T 17 / 17 p.K792* c.2374A>T COSV57339493 Tier1 1 / 1276
chr5:112173668 CAA C 17 / 17 p.Y796fs c.2379_2380delAA COSV57329425 Tier1 2 / 1276
chr5:112173668 C T 17 / 17 p.Q793* c.2377C>T COSV57326036 Tier1 1 / 1276
chr5:112173676 CTA C 17 / 17 p.Y796fs c.2387_2388delAT COSV57331256 Tier1 1 / 1276
chr5:112173704 C T 17 / 17 p.R805* c.2413C>T COSV57322578 Tier1 7 / 1276
chr5:112173723 C A 17 / 17 p.S811* c.2432C>A   Tier1 1 / 1276
chr5:112173723 C G 17 / 17 p.S811* c.2432C>G COSV57338557 Tier1 1 / 1276
chr5:112173727 CA C 17 / 17 p.N813fs c.2438delA   Tier1 1 / 1276
chr5:112173742 CA C 17 / 17 p.N818fs c.2453delA   Tier1 1 / 1276
chr5:112173754 CCT C 17 / 17 p.L822fs c.2464_2465delCT   Tier1 1 / 1276
chr5:112173766 T G 17 / 17 p.Y825* c.2475T>G COSV57365870 Tier1 1 / 1276
chr5:112173769 G GA 17 / 17 p.N827fs c.2480dupA   Tier1 1 / 1276
chr5:112173775 TAC T 17 / 17 p.T829fs c.2486_2487delCA COSV57342169 Tier1 1 / 1276
chr5:112173798 C G 17 / 17 p.S836* c.2507C>G   Tier1 1 / 1276
chr5:112173798 C A 17 / 17 p.S836* c.2507C>A COSV57322490 Tier1 1 / 1276
chr5:112173801 C G 17 / 17 p.S837* c.2510C>G COSV57338611 Tier1 3 / 1276
chr5:112173834 AAGAT A 17 / 17 p.D849fs c.2547_2550delTAGA COSV57338314 Tier1 1 / 1276
chr5:112173839 AGAAG A 17 / 17 p.R850fs c.2549_2552delGAAG   Tier1 1 / 1276
chr5:112173847 G GGA 17 / 17 p.R856fs c.2563_2564dupGA COSV57376735 Tier1 2 / 1276
chr5:112173848 G T 17 / 17 p.E853* c.2557G>T COSV57347085 Tier1 1 / 1276
chr5:112173851 A T 17 / 17 p.R854* c.2560A>T COSV57364283 Tier1 1 / 1276
chr5:112173893 G T 17 / 17 p.E868* c.2602G>T COSV57332659 Tier1 2 / 1276
chr5:112173912 C A 17 / 17 p.S874* c.2621C>A COSV57325449 Tier1 1 / 1276
chr5:112173914 A T 17 / 17 p.K875* c.2623A>T   Tier1 2 / 1276
chr5:112173917 C T 17 / 17 p.R876* c.2626C>T COSV57320538 Tier1 56 / 1276
chr5:112173919 A AG 17 / 17 p.L878fs c.2630dupG   Tier1 1 / 1276
chr5:112173926 C T 17 / 17 p.Q879* c.2635C>T COSV57321909 Tier1 4 / 1276
chr5:112173947 C T 17 / 17 p.Q886* c.2656C>T COSV57332678 Tier1 2 / 1276
chr5:112173950 AT A 17 / 17 p.I887fs c.2661delT   Tier1 1 / 1276
chr5:112173955 CAAAGTCATGG C 17 / 17 p.V890fs c.2667_2676delAGTCATGGAA   Tier1 1 / 1276
chr5:112173956 A T 17 / 17 p.K889* c.2665A>T COSV57401388 Tier1 1 / 1276
chr5:112173968 G T 17 / 17 p.E893* c.2677G>T COSV57332855 Tier1 2 / 1276
chr5:112173973 G GTCAGCCAT 17 / 17 p.H898fs c.2686_2693dupGCCATTCA   Tier1 1 / 1276
chr5:112173992 C T 17 / 17 p.Q901* c.2701C>T COSV57381203 Tier1 4 / 1276
chr5:112173995 G T 17 / 17 p.E902* c.2704G>T COSV57346494 Tier1 1 / 1276
chr5:112174000 CA C 17 / 17 p.R904fs c.2710delA   Tier1 1 / 1276
chr5:112174026 T A 17 / 17 p.L912* c.2735T>A COSV57352160 Tier1 1 / 1276
chr5:112174029 AT A 17 / 17 p.C914fs c.2740delT   Tier1 1 / 1276
chr5:112174042 TGA T 17 / 17 p.R919fs c.2756_2757delGA COSV57326212 Tier1 1 / 1276
chr5:112174043 G T 17 / 17 p.E918* c.2752G>T COSV57328628 Tier1 2 / 1276
chr5:112174058 A T 17 / 17 p.R923* c.2767A>T COSV57330257 Tier1 1 / 1276
chr5:112174090 CACTT C 17 / 17 p.Y935fs c.2802_2805delTTAC COSV57332042 Tier1 3 / 1276
chr