Entrez Gene

Basic Information
Gene ID	7150
Name	TOP1
Synonymous	topoisomerase (DNA) I;TOP1;topoisomerase (DNA) I
Definition	DNA topoisomerase 1\|type I DNA topoisomerase
Position	20q12-q13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1911delA; p.T639fs*6; 20:41118257-41118257	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.995delA; p.K333fs*3; 20:41100075-41100075	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1868A>G; p.N623S; 20:41118214-41118214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.211G>T; p.D71Y; 20:41076226-41076226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346A>G; p.I116V; 20:41080095-41080095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126G>T; p.K42N; 20:41061461-41061461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2141T>C; p.I714T; 20:41122101-41122101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.977A>T; p.K326I; 20:41100057-41100057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1452G>T; p.K484N; 20:41112925-41112925	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>C; p.E221Q; 20:41092518-41092518	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.939G>A; p.T313T; 20:41098301-41098301	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.75A>G; p.K25K; 20:41061410-41061410	oesophagus	carcinoma	Substitution - coding silent
c.1679C>T; p.P560L; 20:41115411-41115411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>A; p.D281N; 20:41097330-41097330	skin; trunk	malignant_melanoma	Substitution - Missense
c.464A>C; p.E155A; 20:41081197-41081197	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.221C>G; p.S74*; 20:41076236-41076236	breast	carcinoma	Substitution - Nonsense
c.1312G>A; p.E438K; 20:41112785-41112785	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1871G>A; p.R624Q; 20:41118217-41118217	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1069_1070CC>TT; p.P357F; 20:41100149-41100150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127G>A; p.R376Q; 20:41100207-41100207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1347G>A; p.R449R; 20:41112820-41112820	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2247G>A; p.R749R; 20:41123246-41123246	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.842A>G; p.D281G; 20:41097331-41097331	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.R140*; 20:41080167-41080167	large_intestine; colon	NS	Substitution - Nonsense
c.730+4A>T; p.?; 20:41092591-41092591	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.834C>A; p.F278L; 20:41097323-41097323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1784C>T; p.S595F; 20:41116354-41116354	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246G>A; p.R749Q; 20:41123245-41123245	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055A>G; p.N352S; 20:41100135-41100135	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749C>G; p.G583G; 20:41116319-41116319	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1651C>T; p.L551L; 20:41115383-41115383	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1651C>T; p.L551L; 20:41115383-41115383	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.348T>A; p.I116I; 20:41080097-41080097	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.348T>A; p.I116I; 20:41080097-41080097	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1824G>A; p.P608P; 20:41118170-41118170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.956T>C; p.M319T; 20:41098318-41098318	breast	carcinoma	Substitution - Missense
c.183C>G; p.H61Q; 20:41076198-41076198	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286G>T; p.A96S; 20:41077588-41077588	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.397A>G; p.I133V; 20:41080146-41080146	liver	carcinoma	Substitution - Missense
c.397A>G; p.I133V; 20:41080146-41080146	liver	carcinoma	Substitution - Missense
c.1702C>T; p.L568F; 20:41115434-41115434	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.D83N; 20:41076262-41076262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2123G>A; p.R708Q; 20:41122083-41122083	breast	carcinoma	Substitution - Missense
c.91C>A; p.R31R; 20:41061426-41061426	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.455T>A; p.I152N; 20:41081188-41081188	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>T; p.R375I; 20:41100204-41100204	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2025G>A; p.M675I; 20:41121770-41121770	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2025G>A; p.M675I; 20:41121770-41121770	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1708A>C; p.T570P; 20:41116278-41116278	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.345A>T; p.Q115H; 20:41080094-41080094	urinary_tract; bladder	carcinoma	Substitution - Missense
c.708G>T; p.E236D; 20:41092565-41092565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.483G>A; p.K161K; 20:41081216-41081216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187A>G; p.T729T; 20:41122147-41122147	skin	malignant_melanoma	Substitution - coding silent
c.635C>T; p.P212L; 20:41092492-41092492	skin	malignant_melanoma	Substitution - Missense
c.191_193delAGG; p.E65delE; 20:41076206-41076208	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.283C>A; p.R95R; 20:41077585-41077585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.266G>A; p.R89Q; 20:41076281-41076281	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266G>A; p.R89Q; 20:41076281-41076281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.135A>C; p.E45D; 20:41061470-41061470	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.76G>T; p.D26Y; 20:41061411-41061411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.855A>C; p.E285D; 20:41098217-41098217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2122C>T; p.R708*; 20:41122082-41122082	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.2122C>T; p.R708*; 20:41122082-41122082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.684C>A; p.A228A; 20:41092541-41092541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2239A>C; p.T747P; 20:41123238-41123238	prostate	carcinoma	Substitution - Missense
c.1345C>T; p.R449W; 20:41112818-41112818	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.2119G>C; p.D707H; 20:41122079-41122079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.100C>T; p.R34W; 20:41061435-41061435	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2003C>A; p.A668D; 20:41121748-41121748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2123G>T; p.R708L; 20:41122083-41122083	skin	malignant_melanoma	Substitution - Missense
c.382C>A; p.P128T; 20:41080131-41080131	breast	carcinoma	Substitution - Missense
c.413G>A; p.R138K; 20:41080162-41080162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.977A>G; p.K326R; 20:41100057-41100057	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.977A>G; p.K326R; 20:41100057-41100057	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.977A>G; p.K326R; 20:41100057-41100057	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1408A>G; p.M470V; 20:41112881-41112881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1213C>A; p.R405R; 20:41101258-41101258	skin	malignant_melanoma	Substitution - coding silent
c.531G>T; p.K177N; 20:41084485-41084485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.531G>T; p.K177N; 20:41084485-41084485	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.548A>C; p.K183T; 20:41084502-41084502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.752_753CC>TT; p.P251L; 20:41097241-41097242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.483G>T; p.K161N; 20:41081216-41081216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>C; p.R567T; 20:41115432-41115432	breast	carcinoma	Substitution - Missense
c.545A>C; p.D182A; 20:41084499-41084499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1637G>A; p.R546Q; 20:41114154-41114154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1637G>A; p.R546Q; 20:41114154-41114154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450A>T; p.K484*; 20:41112923-41112923	skin	malignant_melanoma	Substitution - Nonsense
c.1483G>A; p.E495K; 20:41114000-41114000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.657C>T; p.F219F; 20:41092514-41092514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.158A>G; p.E53G; 20:41076173-41076173	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1368G>T; p.K456N; 20:41112841-41112841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2139G>C; p.Q713H; 20:41122099-41122099	breast	carcinoma	Substitution - Missense
c.427G>A; p.D143N; 20:41080176-41080176	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1583A>G; p.D528G; 20:41114100-41114100	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508C; 20:41114039-41114039	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>A; p.R210S; 20:41092485-41092485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.P393S; 20:41101222-41101222	skin	malignant_melanoma	Substitution - Missense
c.1502C>T; p.T501I; 20:41114019-41114019	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.R362C; 20:41100164-41100164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1386A>T; p.R462R; 20:41112859-41112859	skin	malignant_melanoma	Substitution - coding silent
c.2033C>T; p.A678V; 20:41121778-41121778	liver	carcinoma	Substitution - Missense
c.1050T>C; p.I350I; 20:41100130-41100130	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2241C>A; p.T747T; 20:41123240-41123240	breast	carcinoma	Substitution - coding silent
c.1300C>T; p.R434*; 20:41101345-41101345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1582G>T; p.D528Y; 20:41114099-41114099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1862G>A; p.R621H; 20:41118208-41118208	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1862G>A; p.R621H; 20:41118208-41118208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1862G>A; p.R621H; 20:41118208-41118208	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.287C>T; p.A96V; 20:41077589-41077589	skin	malignant_melanoma	Substitution - Missense
c.1707+2T>C; p.?; 20:41115441-41115441	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.130C>T; p.R44W; 20:41061465-41061465	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.130C>T; p.R44W; 20:41061465-41061465	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.975+2T>C; p.?; 20:41098339-41098339	stomach	carcinoma; adenocarcinoma	Unknown
c.1139A>T; p.E380V; 20:41100219-41100219	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1810G>T; p.E604*; 20:41116380-41116380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1129A>G; p.I377V; 20:41100209-41100209	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.R376*; 20:41100206-41100206	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.383C>T; p.P128L; 20:41080132-41080132	skin	malignant_melanoma	Substitution - Missense
c.1473T>C; p.N491N; 20:41113990-41113990	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.927C>G; p.F309L; 20:41098289-41098289	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1762G>A; p.V588I; 20:41116332-41116332	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.488G>T; p.R163I; 20:41081221-41081221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]