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APC

Basic information

Official gene symbol
APC regulator of WNT signaling pathway
Conventional gene symbol
BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46
Classification
Tumor suppressor gene
Official gene ID
324(Refseq)
324 (KEGG)
Transcript ID
NM_001127510
Functional classification
Differentiation
Signaling pathway
WNT
Chromosomal location
5q22.2 (chr5:112090588..112179823)
Protein length
2,843

Chromosome ideogram

Pathway map

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
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