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 Number	Gene name	mRNA ID	Protein ID	Mutation type	CDS mutation	AA mutation	COSMIC Mutation ID	Note
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

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).
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).