this page: Fukushima Human Cancer Gene Overexpressing Cell Lines

Product Table Navigator
EGFR
ERBB2
KRAS
HRAS
NRAS
BRAF
PI3K
IDH

Ordering Information

Fukushima Translational Research Center

End User Agreement (required for purchase)

Variant notation resources

References







Fukushima Human Cancer Gene Overexpressing Cell Lines


 

Mutant cell lines acting as proxies for cancer patients

Fukushima Human Cancer Gene Overexpressing Cell Lines are non-tumorigenic, immortalized breast epithelial cells (MCF10A) whose proliferation depends on epidermal growth factor and which have been engineered to stably overexpress mutant cancer-related genes. Created by the Translational Research Center of the Fukushima Global Medical Science Center, Mutant Human Cancer Gene Overexpressing Cell Lines are paired with their control WT Gene Overexpressing Cell Line. Together, these comprise novel cell-based assays for the evaluation of inhibitor efficacy against sets of cancer-related mutations.

Anti-cancer agents, including biomolecule-targeted drugs, can be evaluated in this assay system for their ability to inhibit cell proliferation across sets of mutant cell lines acting as proxies for patients carrying distinct genomic lesions in their cancer cells (1, 2). Thus, this assay system is useful for the evaluation of mutant-selective inhibitors and drug screening. Cosmo Bio USA is pleased to offer a panel of pre-made Human Cancer Gene Overexpressing Cell Lines expressing high levels of recombinant protein variants, modeling those found in human cancers, drawing upon information from the UK Sanger Center’s COSMIC database and from reports of clinical trials and treatises.

Features

  • The parental strain for all cancer gene overexpressing variants is MCF10A, a human, non-tumor-forming, mammary epithelial cell line.
  • The quality and characteristics of each cell line are validated by:
    • Sequencing of the genomically integrated transgene
    • Transgene expression level analysis (real-time PCR and western blot)
    • Proliferation and morphology analysis
    • Comprehensive gene expression analysis
      • Analytical data for each cell line are available on request.
    • Viral clearance, mycoplasma detection and sterilization testing
  • Exhibiting epidermal growth factor (EGF)-dependent proliferation, MCF10A is ideal for studies of the EGF signaling pathway.
  • Human Cancer Gene Overexpressing MCF10A cells provide a unified platform for comparative evaluation tests and screening of candidate inhibitors.

Examples of use


Ordering Information

Catalog NumberGene namemRNA IDProtein IDMutation typeCDS mutationAA mutationCOSMIC Mutation IDNote
EGFR
CSR-EXR00114 epidermal growth factor receptor NM_005228.3 NP_005219.2 Control - - - -
CSR-EXR00115 epidermal growth factor receptor NM_005228.3 NP_005219.2 L858R c.2573T>G p.L858R COSM6224 -
CSR-EXR00116 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA c.2235_2249del15(GGAATTAAGAGAAGC) p.E746_A750delELREA COSM6223 -
CSR-EXR00117 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA c.2236_2250del15(GAATTAAGAGAAGCA) p.E746_A750delELREA COSM6225 -
CSR-EXR00118 epidermal growth factor receptor NM_005228.3 NP_005219.2 T790M c.2369C>T p.T790M COSM6240 -
CSR-EXR00119 epidermal growth factor receptor NM_005228.3 NP_005219.2 L747_P753>S c.2240_2257del18(TAAGAGAAGCAACATCTC) p.L747_P753LREATSP>S COSM12370 -
CSR-EXR00120 epidermal growth factor receptor NM_005228.3 NP_005219.2 L747_A750>P c.2239_2248TTAAGAGAAG>C p.L747_A750LREA>P COSM12382 -
CSR-EXR00121 epidermal growth factor receptor NM_005228.3 NP_005219.2 L861Q c.2582T>A p.L861Q COSM6213 -
CSR-EXR00122 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_S752>V c.2237_2255AATTAAGAGAAGCAACATC>T p.E746_S752ELREATS>V COSM12384 -
CSR-EXR00123 epidermal growth factor receptor NM_005228.3 NP_005219.2 L747_T751delLREAT c.2240_2254del15(TAAGAGAAGCAACAT) p.L747_T751delLREAT COSM12369 -
CSR-EXR00124 epidermal growth factor receptor NM_005228.3 NP_005219.2 I491M c.1473A>G p.I491M - -
CSR-EXR00125 epidermal growth factor receptor NM_005228.3 NP_005219.2 L65V c.193T>G p.L65V - -
CSR-EXR00126 epidermal growth factor receptor NM_005228.3 NP_005219.2 S492R c.1476C>A p.S492R COSM236670 -
CSR-EXR00181 epidermal growth factor receptor NM_005228.3 NP_005219.2 V769_D770insASV c.2308_2309insCCAGCGTGG p.V769_D770insASV COSM12426 -
CSR-EXR00182 epidermal growth factor receptor NM_005228.3 NP_005219.2 D770_N771insSVD c.2311_2312insGCGTGGACA p.D770_N771insSVD COSM13428 -
CSR-EXR00183 epidermal growth factor receptor NM_005228.3 NP_005219.2 H773_V774insNPH c.2319_2320insAACCCCCAC p.H773_V774insNPH COSM12381 -
CSR-EXR00184 epidermal growth factor receptor NM_005228.3 NP_005219.2 K745_E746insIPVAIK c.2231_2232ins18(TAAAATTCCCGTCGCTAT) p.K745_E746insIPVAIK COSM12423 -
CSR-EXR00373 epidermal growth factor receptor NM_005228.3 NP_005219.2 EGFRvIII c.89_889del801(ex.2-7) p.V30_R297del268>G - EGFRvIII (deletion of exons 2–7)
CSR-EXR00374 epidermal growth factor receptor NM_005228.3 NP_005219.2 A763_Y764insFQEA c.2290_2291ins12(TCCAGGAAGCCT) p.A763_Y764insFQEA COSM26720 -
CSR-EXR00375 epidermal growth factor receptor NM_005228.3 NP_005219.2 H773_V774insH c.2319_2320insCAC p.H773_V774insH COSM12377 -
CSR-EXR00376 epidermal growth factor receptor NM_005228.3 NP_005219.2 V774_C775insHV c.2321_2322insCCACGT p.V774_C775insHV COSM18432 -
CSR-EXR00377 epidermal growth factor receptor NM_005228.3 NP_005219.2 D770_N771insG c.2310_2311insGGT p.D770_N771insG COSM12378 -
CSR-EXR00419 epidermal growth factor receptor NM_005228.3 NP_005219.2 H773_V774insPH c.2319_2320insCCCCAC p.H773_V774insPH COSM12380 -
CSR-EXR00378 epidermal growth factor receptor NM_005228.3 NP_005219.2 C797S c.2389T>A p.C797S - -
CSR-EXR00379 epidermal growth factor receptor NM_005228.3 NP_005219.2 C797S c.2390G>C p.C797S - -
CSR-EXR00380 epidermal growth factor receptor NM_005228.3 NP_005219.2 T790M, L858R c.2369C>T, c.2573T>G p.T790M, p.L858R - Multi-site mutation
CSR-EXR00381 epidermal growth factor receptor NM_005228.3 NP_005219.2 C797S, L858R c.2389T>A, c.2573T>G p.C797S, p.L858R - Multi-site mutation
CSR-EXR00433 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M c.2235_2249del15(GGAATTAAGAGAAGC), c.2354C>T p.E746_A750delELREA, p.T785M - Multi-site mutation
CSR-EXR00382 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, C797S c.2235_2249del15(GGAATTAAGAGAAGC), c.2374T>A p.E746_A750delELREA, p.C792S - Multi-site mutation
CSR-EXR00383 epidermal growth factor receptor NM_005228.3 NP_005219.2 T790M, C797S c.2369C>T, c.2389T>A p.T790M, p.C797S - Multi-site mutation
CSR-EXR00384 epidermal growth factor receptor NM_005228.3 NP_005219.2 T790M, C797S, L858R c.2369C>T, c.2389T>A, c.2573T>G p.T790M, p.C797S, p.L858R - Multi-site mutation
CSR-EXR00385 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M, C797S c.2235_2249del15(GGAATTAAGAGAAGC), c.2354C>T, c.2374T>A p.E746_A750delELREA, p.T785M, p.C792S - Multi-site mutation
CSR-EXR00386 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, L858R c.2235_2249del15(GGAATTAAGAGAAGC), c.2558T>G p.E746_A750delELREA, p.L853R - Multi-site mutation
CSR-EXR00387 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, C797S, L858R c.2235_2249del15(GGAATTAAGAGAAGC), c.2374T>A, c.2558T>G p.E746_A750delELREA, p.C792S, p.L853R - Multi-site mutation
CSR-EXR00388 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M, L858R c.2235_2249del15(GGAATTAAGAGAAGC), c.2354C>T, c.2558T>G p.E746_A750delELREA, p.T785M, p.L853R - Multi-site mutation
CSR-EXR00389 epidermal growth factor receptor NM_005228.3 NP_005219.2 C797S c.2390G>C p.C797S - Multi-site mutation
CSR-EXR00430 epidermal growth factor receptor NM_005228.3 NP_005219.2 G719A c.2156G>C p.G719A COSM6239 -
CSR-EXR00431 epidermal growth factor receptor NM_005228.3 NP_005219.2 G719S c.2155G>A p.G719S COSM6252 -
CSR-EXR00432 epidermal growth factor receptor NM_005228.3 NP_005219.2 G719C c.2155G>T p.G719C COSM6253 -
CSR-EXR00527 epidermal growth factor receptor NM_005228.3 NP_005219.2 L655P c.1964T>C p.L655P - -
CSR-EXR00440 epidermal growth factor receptor NM_005228.3 NP_005219.2 M668V c.2002A>G p.M668V - -
CSR-EXR00441 epidermal growth factor receptor NM_005228.3 NP_005219.2 E711D c.2133A>T p.E711D - -
CSR-EXR00442 epidermal growth factor receptor NM_005228.3 NP_005219.2 E709G c.2126A>G p.E709G COSM13009 -
CSR-EXR00443 epidermal growth factor receptor NM_005228.3 NP_005219.2 L718A c.2152_2153CT>GC p.L718A - -
CSR-EXR00444 epidermal growth factor receptor NM_005228.3 NP_005219.2 L718Q c.2153T>A p.L718Q - -
CSR-EXR00445 epidermal growth factor receptor NM_005228.3 NP_005219.2 V742A c.2225T>C p.V742A COSM13183 -
CSR-EXR00446 epidermal growth factor receptor NM_005228.3 NP_005219.2 A743S c.2227G>T p.A743S COSM22543 -
CSR-EXR00447 epidermal growth factor receptor NM_005228.3 NP_005219.2 I744F c.2230A>T p.I744F - -
CSR-EXR00448 epidermal growth factor receptor NM_005228.3 NP_005219.2 L747S c.2240T>C p.L747S COSM26704 -
CSR-EXR00449 epidermal growth factor receptor NM_005228.3 NP_005219.2 A750V c.2249C>T p.A750V - -
CSR-EXR00450 epidermal growth factor receptor NM_005228.3 NP_005219.2 D761Y c.2281G>T p.D761Y COSM21984 -
CSR-EXR00451 epidermal growth factor receptor NM_005228.3 NP_005219.2 E762V c.2285A>T p.E762V - -
CSR-EXR00452 epidermal growth factor receptor NM_005228.3 NP_005219.2 E762G c.2285A>G p.E762G - -
CSR-EXR00453 epidermal growth factor receptor NM_005228.3 NP_005219.2 M766T c.2297T>C p.M766T COSM28943 -
CSR-EXR00454 epidermal growth factor receptor NM_005228.3 NP_005219.2 M766V c.2296A>G p.M766V COSM1451594 -
CSR-EXR00455 epidermal growth factor receptor NM_005228.3 NP_005219.2 V769L c.2305G>T p.V769L COSM6242 -
CSR-EXR00456 epidermal growth factor receptor NM_005228.3 NP_005219.2 D770Y c.2308G>T p.D770Y - -
CSR-EXR00457 epidermal growth factor receptor NM_005228.3 NP_005219.2 H773L c.2318A>T p.H773L COSM13005 -
CSR-EXR00458 epidermal growth factor receptor NM_005228.3 NP_005219.2 C775F c.2324G>T p.C775F - -
CSR-EXR00459 epidermal growth factor receptor NM_005228.3 NP_005219.2 R776P c.2327G>C p.R776P - -
CSR-EXR00460 epidermal growth factor receptor NM_005228.3 NP_005219.2 L777M c.2329C>A p.L777M - -
CSR-EXR00461 epidermal growth factor receptor NM_005228.3 NP_005219.2 L777Q c.2330T>A p.L777Q COSM22991 -
CSR-EXR00462 epidermal growth factor receptor NM_005228.3 NP_005219.2 L778M c.2332C>A p.L778M - -
CSR-EXR00463 epidermal growth factor receptor NM_005228.3 NP_005219.2 C781F c.2342G>T p.C781F - -
CSR-EXR00464 epidermal growth factor receptor NM_005228.3 NP_005219.2 L788V c.2362C>G p.L788V - -
CSR-EXR00465 epidermal growth factor receptor NM_005228.3 NP_005219.2 L788I c.2362C>A p.L788I - -
CSR-EXR00466 epidermal growth factor receptor NM_005228.3 NP_005219.2 P794L c.2381C>T p.P794L - -
CSR-EXR00467 epidermal growth factor receptor NM_005228.3 NP_005219.2 G796D c.2387G>A p.G796D COSM133565 -
CSR-EXR00468 epidermal growth factor receptor NM_005228.3 NP_005219.2 G796R c.2386G>C p.G796R - -
CSR-EXR00469 epidermal growth factor receptor NM_005228.3 NP_005219.2 G796C c.2386G>T p.G796C - -
CSR-EXR00470 epidermal growth factor receptor NM_005228.3 NP_005219.2 C797G c.2389T>G p.C797G - -
CSR-EXR00471 epidermal growth factor receptor NM_005228.3 NP_005219.2 G810D c.2429G>A p.G810D COSM12986 -
CSR-EXR00472 epidermal growth factor receptor NM_005228.3 NP_005219.2 N816K c.2448C>G p.N816K - -
CSR-EXR00473 epidermal growth factor receptor NM_005228.3 NP_005219.2 V845L c.2533G>C p.V845L - -
CSR-EXR00474 epidermal growth factor receptor NM_005228.3 NP_005219.2 V845M c.2533G>A p.V845M COSM28931 -
CSR-EXR00475 epidermal growth factor receptor NM_005228.3 NP_005219.2 T847A c.2539A>G p.T847A COSM1451610 -
CSR-EXR00476 epidermal growth factor receptor NM_005228.3 NP_005219.2 K852T c.2555A>C p.K852T - -
CSR-EXR00528 epidermal growth factor receptor NM_005228.3 NP_005219.2 K852E c.2554A>G p.K852E - -
CSR-EXR00477 epidermal growth factor receptor NM_005228.3 NP_005219.2 T854A c.2560A>G p.T854A COSM28537 -
CSR-EXR00478 epidermal growth factor receptor NM_005228.3 NP_005219.2 T854S c.2560A>T p.T854S COSM1235378 -
CSR-EXR00479 epidermal growth factor receptor NM_005228.3 NP_005219.2 A859D c.2576C>A p.A859D COSM85994 -
CSR-EXR00529 epidermal growth factor receptor NM_005228.3 NP_005219.2 K860T c.2579A>C p.K860T - -
CSR-EXR00480 epidermal growth factor receptor NM_005228.3 NP_005219.2 G863S c.2587G>A p.G863S COSM87247 -
CSR-EXR00530 epidermal growth factor receptor NM_005228.3 NP_005219.2 V876L c.2626G>C p.V876L - -
CSR-EXR00481 epidermal growth factor receptor NM_005228.3 NP_005219.2 R889S c.2667A>C p.R889S - -
CSR-EXR00482 epidermal growth factor receptor NM_005228.3 NP_005219.2 L907M c.2719T>A p.L907M COSM1550026 -
CSR-EXR00483 epidermal growth factor receptor NM_005228.3 NP_005219.2 I965N c.2894T>A p.I965N - -
CSR-EXR00484 epidermal growth factor receptor NM_005228.3 NP_005219.2 L718A, L858R c.2152_2153CT>GC, c.2573T>G p.L718A, p.L858R - Multi-site mutation
CSR-EXR00485 epidermal growth factor receptor NM_005228.3 NP_005219.2 M766T, L858R c.2297T>C, c.2573T>G p.M766T, p.L858R - Multi-site mutation
CSR-EXR00486 epidermal growth factor receptor NM_005228.3 NP_005219.2 G796R, L858R c.2386G>C, c.2573T>G p.G796R, p.L858R - Multi-site mutation
CSR-EXR00487 epidermal growth factor receptor NM_005228.3 NP_005219.2 T854A, L858R c.2560A>G, c.2573T>G p.T854A, p.L858R - Multi-site mutation
CSR-EXR00488 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M c.2236_2250del15(GAATTAAGAGAAGCA), c.2354C>T p.E746_A750delELREA, p.T785M - Multi-site mutation
CSR-EXR00489 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, C797S c.2236_2250del15(GAATTAAGAGAAGCA), c.2374T>A p.E746_A750delELREA, p.C792S - Multi-site mutation
CSR-EXR00490 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M, C797S c.2236_2250del15(GAATTAAGAGAAGCA), c.2354C>T, c.2374T>A p.E746_A750delELREA, p.T785M, p.C792S - Multi-site mutation
CSR-EXR00491 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, L858R c.2236_2250del15(GAATTAAGAGAAGCA), c.2558T>G p.E746_A750delELREA, p.L853R - Multi-site mutation
CSR-EXR00492 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, C797S, L858R c.2236_2250del15(GAATTAAGAGAAGCA), c.2374T>A, c.2558T>G p.E746_A750delELREA, p.C792S, p.L853R - Multi-site mutation
CSR-EXR00493 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M, L858R c.2236_2250del15(GAATTAAGAGAAGCA), c.2354C>T, c.2558T>G p.E746_A750delELREA, p.T785M, p.L853R - Multi-site mutation
CSR-EXR00494 epidermal growth factor receptor NM_005228.3 NP_005219.2 E746_A750delELREA, T790M, C797S, L858R c.2236_2250del15(GAATTAAGAGAAGCA), c.2354C>T, c.2374T>A, c.2558T>G p.E746_A750delELREA, p.T785M, p.C792S, p.L853R - Multi-site mutation
CSR-EXR00524 epidermal growth factor receptor NM_005228.3 NP_005219.2 N826S c.2477A>G p.N826S COSM13193 -
CSR-EXR00525 epidermal growth factor receptor NM_005228.3 NP_005219.2 A839T c.2515G>A p.A839T COSM13430 -
CSR-EXR00526 epidermal growth factor receptor NM_005228.3 NP_005219.2 G863D c.2588G>A p.G863D COSM14070 -
CSR-EXR00127 epidermal growth factor receptor NM_201282.1 NP_958439.1 Control - - - -
CSR-EXR00128 epidermal growth factor receptor NM_201282.1 NP_958439.1 I491M c.1473A>G p.I491M - -
CSR-EXR00129 epidermal growth factor receptor NM_201282.1 NP_958439.1 L65V c.193T>G p.L65V - -
CSR-EXR00130 epidermal growth factor receptor NM_201282.1 NP_958439.1 S492R c.1476C>A p.S492R COSM236670 -
CSR-EXR00131 epidermal growth factor receptor NM_201283.1 NP_958440.1 Control - - - -
CSR-EXR00132 epidermal growth factor receptor NM_201283.1 NP_958440.1 L65V c.193T>G p.L65V - -
CSR-EXR00133 epidermal growth factor receptor NM_201284.1 NP_958441.1 Control - - - -
CSR-EXR00134 epidermal growth factor receptor NM_201284.1 NP_958441.1 I491M c.1473A>G p.I491M - -
CSR-EXR00135 epidermal growth factor receptor NM_201284.1 NP_958441.1 L65V c.193T>G p.L65V - -
CSR-EXR00136 epidermal growth factor receptor NM_201284.1 NP_958441.1 S492R c.1476C>A p.S492R COSM236670 -
ERBB2
CSR-EXR00410 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 G309A c.926G>C p.G309A COSM436496 -
CSR-EXR00435 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 S310F c.929C>T p.S310F COSM48358 -
CSR-EXR00436 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 S310Y c.929C>A p.S310Y COSM94225 -
CSR-EXR00411 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 R678Q c.2033G>A p.R678Q COSM436498 -
CSR-EXR00412 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 L755S c.2264T>C p.L755S COSM14060 -
CSR-EXR00413 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 A775_G776insYVMA c.2324_2325ins12(ATACGTGATGGC) p.A775_G776insYVMA COSM20959 -
CSR-EXR00418 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 L755_T759del c.2263_2277del15(TTGAGGGAAAACACA) p.L755_T759delLRENT - -
CSR-EXR00414 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 D769H c.2305G>C p.D769H COSM13170 -
CSR-EXR00415 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 G776>VC c.2326_2327insTGT p.G776>VC COSM12553 -
CSR-EXR00437 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 V777L c.2329G>T p.V777L COSM14062 -
CSR-EXR00438 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 V842I c.2524G>A p.V842I COSM14065 -
CSR-EXR00416 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 D769Y c.2305G>T p.D769Y COSM1251412 -
CSR-EXR00417 erb-b2 receptor tyrosine kinase 2 NM_004448.3 NP_004439.2 R896C c.2686C>T p.R896C COSM14066 -
CSR-EXR01289 erb-b2 receptor tyrosine kinase 2 NM_001005862.2 NP_001005862.1 Control - - - -
CSR-EXR01290 erb-b2 receptor tyrosine kinase 2 NM_001289936.1 NP_001276865.1 Control - - - -
CSR-EXR01291 erb-b2 receptor tyrosine kinase 2 NM_001289937.1 NP_001276866.1 Control - - - -
CSR-EXR01292 erb-b2 receptor tyrosine kinase 2 NM_001289938.1 NP_001276867.1 Control - - - -
CSR-EXR01293 erb-b2 receptor tyrosine kinase 2 - - Control - - - CTF-611
CSR-EXR01294 erb-b2 receptor tyrosine kinase 2 - - Control - - - CTF-687
CSR-EXR01295 erb-b2 receptor tyrosine kinase 2 - - Control - - - HER2Δ16 (deletion of exon 16)
CSR-EXR01296 erb-b2 receptor tyrosine kinase 2 - - Control - - - Herstatin (retention of intron 8)
CSR-EXR01297 erb-b2 receptor tyrosine kinase 2 - - Control - - - HER2-ECD (retention of intron 15)
CSR-EXR01298 erb-b2 receptor tyrosine kinase 2 - - Control - - - CTF-648
CSR-EXR01299 erb-b2 receptor tyrosine kinase 2 - - Control - - - CTF-676
KRAS
CSR-EXR00002 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 Control - - - -
CSR-EXR00003 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12D c.35G>A p.G12D COSM521 -
CSR-EXR00004 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12V c.35G>T p.G12V COSM520 -
CSR-EXR00005 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G13D c.38G>A p.G13D COSM532 -
CSR-EXR00006 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12C c.34G>T p.G12C COSM516 -
CSR-EXR00007 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12A c.35G>C p.G12A COSM522 -
CSR-EXR00008 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12S c.34G>A p.G12S COSM517 -
CSR-EXR00009 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G12R c.34G>C p.G12R COSM518 -
CSR-EXR00010 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 G13C c.37G>T p.G13C COSM527 -
CSR-EXR00011 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 Q61H c.183A>C p.Q61H COSM554 -
CSR-EXR00012 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 Q61L c.182A>T p.Q61L COSM553 -
CSR-EXR00013 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 A146T c.436G>A p.A146T COSM19404 -
CSR-EXR00026 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 A146V c.437C>T p.A146V COSM19900 -
CSR-EXR00027 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 V14I c.40G>A p.V14I COSM12722 -
CSR-EXR00028 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 A59T c.175G>A p.A59T COSM546 -
CSR-EXR00029 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 Q61P c.182A>C p.Q61P COSM551 -
CSR-EXR00030 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 L19F c.57G>T p.L19F COSM20818 -
CSR-EXR00031 KRAS proto-oncogene, GTPase NM_004985.3 NP_004976.2 Q61E c.181C>G p.Q61E COSM550 -
CSR-EXR00014 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 Control - - - -
CSR-EXR00015 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12D c.35G>A p.G12D COSM521 -
CSR-EXR00016 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12V c.35G>T p.G12V COSM520 -
CSR-EXR00017 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G13D c.38G>A p.G13D COSM532 -
CSR-EXR00018 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12C c.34G>T p.G12C COSM516 -
CSR-EXR00019 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12A c.35G>C p.G12A COSM522 -
CSR-EXR00020 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12S c.34G>A p.G12S COSM517 -
CSR-EXR00021 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G12R c.34G>C p.G12R COSM518 -
CSR-EXR00022 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 G13C c.37G>T p.G13C COSM527 -
CSR-EXR00023 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 Q61H c.183A>C p.Q61H COSM554 -
CSR-EXR00024 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 Q61L c.182A>T p.Q61L COSM553 -
CSR-EXR00025 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 A146T c.436G>A p.A146T COSM19404 -
CSR-EXR00032 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 A146V c.437C>T p.A146V COSM19900 -
CSR-EXR00033 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 V14I c.40G>A p.V14I COSM12722 -
CSR-EXR00034 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 A59T c.175G>A p.A59T COSM546 -
CSR-EXR00035 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 Q61P c.182A>C p.Q61P COSM551 -
CSR-EXR00036 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 L19F c.57G>T p.L19F COSM20818 -
CSR-EXR00037 KRAS proto-oncogene, GTPase NM_033360.2 NP_203524.1 Q61E c.181C>G p.Q61E COSM550 -
HRAS
CSR-EXR00137 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 Control - - - -
CSR-EXR00138 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G12V c.35G>T p.G12V COSM483 -
CSR-EXR00139 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 Q61R c.182A>G p.Q61R COSM499 -
CSR-EXR00140 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 Q61L c.182A>T p.Q61L COSM498 -
CSR-EXR00141 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G13R c.37G>C p.G13R COSM486 -
CSR-EXR00142 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 Q61K c.181C>A p.Q61K COSM496 -
CSR-EXR00143 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G12S c.34G>A p.G12S COSM480 -
CSR-EXR00144 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G12D c.35G>A p.G12D COSM484 -
CSR-EXR00145 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G12C c.34G>T p.G12C COSM481 -
CSR-EXR00147 HRas proto-oncogene, GTPase NM_005343.2 NP_005334.1 G13V c.38G>T p.G13V COSM489 -
CSR-EXR00148 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 Control - - - -
CSR-EXR00149 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G12V c.35G>T p.G12V COSM483 -
CSR-EXR00150 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 Q61R c.182A>G p.Q61R COSM499 -
CSR-EXR00151 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 Q61L c.182A>T p.Q61L COSM498 -
CSR-EXR00152 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G13R c.37G>C p.G13R COSM486 -
CSR-EXR00153 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 Q61K c.181C>A p.Q61K COSM496 -
CSR-EXR00154 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G12S c.34G>A p.G12S COSM480 -
CSR-EXR00155 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G12D c.35G>A p.G12D COSM484 -
CSR-EXR00156 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G12C c.34G>T p.G12C COSM481 -
CSR-EXR00157 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 H27H c.81T>C p.H27H COSM249860 -
CSR-EXR00158 HRas proto-oncogene, GTPase NM_176795.3 NP_789765.1 G13V c.38G>T p.G13V COSM489 -
NRAS
CSR-EXR00159 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 Control - - - -
CSR-EXR00160 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 Q61R c.182A>G p.Q61R COSM584 -
CSR-EXR00161 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 Q61K c.181C>A p.Q61K COSM580 -
CSR-EXR00162 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G12D c.35G>A p.G12D COSM564 -
CSR-EXR00163 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 Q61L c.182A>T p.Q61L COSM583 -
CSR-EXR00164 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G13D c.38G>A p.G13D COSM573 -
CSR-EXR00165 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G12S c.34G>A p.G12S COSM563 -
CSR-EXR00166 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G12C c.34G>T p.G12C COSM562 -
CSR-EXR00167 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G13R c.37G>C p.G13R COSM569 -
CSR-EXR00168 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 Q61H c.183A>T p.Q61H COSM585 -
CSR-EXR00169 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G12V c.35G>T p.G12V COSM566 -
CSR-EXR00170 neuroblastoma RAS viral oncogene homolog NM_002524.4 NP_002515.1 G13V c.38G>T p.G13V COSM574 -
BRAF
CSR-EXR00095 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 Control - - - -
CSR-EXR00096 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600E c.1799T>A p.V600E COSM476 -
CSR-EXR00097 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600K c.1798_1799GT>AA p.V600K COSM473 -
CSR-EXR00098 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600R c.1798_1799GT>AG p.V600R COSM474 -
CSR-EXR00099 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 K601E c.1801A>G p.K601E COSM478 -
CSR-EXR00100 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600E c.1799_1800TG>AA p.V600E COSM475 -
CSR-EXR00101 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 D594G c.1781A>G p.D594G COSM467 -
CSR-EXR00102 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600M c.1798G>A p.V600M COSM1130 -
CSR-EXR00103 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600A c.1799T>C p.V600A COSM18443 -
CSR-EXR00104 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600G c.1799T>G p.V600G COSM6137 -
CSR-EXR00179 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600D c.1799_1800TG>AT p.V600D COSM477 -
CSR-EXR00180 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 V600L c.1798G>C p.V600L COSM219798 -
CSR-EXR00361 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G464V c.1391G>T p.G464V COSM450 -
CSR-EXR00362 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G469A c.1406G>C p.G469A COSM460 -
CSR-EXR00363 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 D594N c.1780G>A p.D594N COSM27639 -
CSR-EXR00364 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G596R c.1786G>C p.G596R COSM469 -
CSR-EXR00365 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G469V c.1406G>T p.G469V COSM459 -
CSR-EXR00366 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G469E c.1406G>A p.G469E COSM461 -
CSR-EXR00367 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 L597R c.1790T>G p.L597R COSM471 -
CSR-EXR00368 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 L597Q c.1790T>A p.L597Q COSM1125 -
CSR-EXR00369 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 L597S c.1789_1790delCTinsTC p.L597S COSM1126 -
CSR-EXR00370 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 L597V c.1789C>G p.L597V p.L597V -
CSR-EXR00371 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 G466V c.1397G>T p.G466V COSM451 -
CSR-EXR00372 B-Raf proto-oncogene, serine/threonine kinase NM_004333.4 NP_004324.2 N581S c.1742A>G p.N581S COSM462 -
PI3K
CSR-EXR00105 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 Control - - - -
CSR-EXR00106 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 H1047R c.3140A>G p.H1047R COSM775 -
CSR-EXR00107 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 E545K c.1633G>A p.E545K COSM763 -
CSR-EXR00108 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 E542K c.1624G>A p.E542K COSM760 -
CSR-EXR00109 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 H1047L c.3140A>T p.H1047L COSM776 -
CSR-EXR00110 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 E545A c.1634A>C p.E545A COSM12458 -
CSR-EXR00111 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 Q546K c.1636C>A p.Q546K COSM766 -
CSR-EXR00112 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 E545G c.1634A>G p.E545G COSM764 -
CSR-EXR00113 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 R88Q c.263G>A p.R88Q COSM746 -
CSR-EXR00390 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NM_006218.2 NP_006209.2 C420R c.1258T>C p.C420R COSM757 -
IDH
CSR-EXR00232 isocitrate dehydrogenase (NADP(+)) 1, cytosolic NM_005896.3 NP_005887.2 Control - - - -
CSR-EXR00233 isocitrate dehydrogenase (NADP(+)) 1, cytosolic NM_005896.3 NP_005887.2 R132H c.395G>A p.R132H COSM28746 -
CSR-EXR00234 isocitrate dehydrogenase (NADP(+)) 1, cytosolic NM_005896.3 NP_005887.2 R132C c.394C>T p.R132C COSM28747 -
CSR-EXR00243 isocitrate dehydrogenase (NADP(+)) 1, cytosolic NM_002168.3 NP_002159.2 Control - - - -
CSR-EXR00244 isocitrate dehydrogenase (NADP(+)) 1, cytosolic NM_002168.3 NP_002159.2 R140Q c.419G>A p.R140Q COSM41590 -

Variant Notation

The following general notation is used for both mutations and fusions. The mutation notation is the same as that used in the COSMIC database and the Human Genome Variation Society.

Mutation notation example (coding DNA level)

  • - ... is WT (wild type).
  • c.35G> A ... The 35th base counting from the beginning of the start codon (usually A of ATG) is replaced from G to A.
  • c.238_252del15 ... The 15th base from the 238th to the 252nd is deleted.
  • c.1012_1013insCCAGCGTGG ... 9 bases CCAGCGTGG is inserted between the 1012th and 1013th.

Mutation notation example (protein level)

  • - ... is WT (wild type).
  • p.L858R ... The 858th amino acid counting from the amino terminus (methionine) is mutated from L (leucine) to R (arginine).
  • p.C401 * ... The 401st C (cysteine) codon is mutated to a stop codon
  • p.F340_P346> S ... The 7 amino acids from 340th to 346th are mutated to S (serine).
  • p.E616_A620delELREA ... The 5 amino acids ELREA from the 616th to the 620th are deleted.
  • p.D770_N771insSVD ... A 3-amino acid SVD is inserted between the 770th and 771st positions.
  • p.R130fs * 4 ... A frameshift occurs at the 130th R (arginine), and the 4th codon from there is the stop codon.

Fusion pattern notation example

  • EML4-ALK (E13; A20) ... The fusion gene consists of the N-terminal portion of EML4 and the C-terminal portion of ALK. Cutting / fusion points (breakpoints) are located at Exon 13 of EML4 and Exon 20 of ALK.

References

  1. Irie, H. et al. TAS0728, a covalent-binding, HER2-selective kinase inhibitor shows potent antitumor activity in preclinical models. Mol Cancer Ther 18, molcanther.1085.2018 (2019).
  2. Hoshi, H. et al. Construction of a novel cell-based assay for the evaluation of anti-EGFR drug efficacy against EGFR mutation. Oncol Rep 37, 66–76 (2016).