Entrez Gene

Basic Information
Gene ID	1434
Name	CSE1L
Synonymous	CSE1 chromosome segregation 1-like (yeast);CSE1L;CSE1 chromosome segregation 1-like (yeast)
Definition	cellular apoptosis susceptibility protein\|chromosome segregation 1-like protein\|exp2\|exportin-2\|importin-alpha re-exporter
Position	20q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.481C>T; p.R161C; 20:49067194-49067194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2011C>T; p.L671L; 20:49089576-49089576	skin	malignant_melanoma	Substitution - coding silent
c.1639G>A; p.A547T; 20:49085302-49085302	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2233C>T; p.H745Y; 20:49090793-49090793	skin	malignant_melanoma	Substitution - Missense
c.1639G>A; p.A547T; 20:49085302-49085302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613C>A; p.L205M; 20:49068760-49068760	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2335C>T; p.Q779*; 20:49090992-49090992	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.636G>C; p.L212L; 20:49068783-49068783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2362A>T; p.K788*; 20:49091019-49091019	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.371C>T; p.P124L; 20:49066405-49066405	skin	malignant_melanoma	Substitution - Missense
c.2806T>C; p.S936P; 20:49094943-49094943	skin	malignant_melanoma	Substitution - Missense
c.2504G>A; p.G835E; 20:49094196-49094196	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115G>C; p.R372T; 20:49074833-49074833	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2325C>A; p.F775L; 20:49090982-49090982	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2137G>A; p.E713K; 20:49089702-49089702	urinary_tract; bladder	carcinoma	Substitution - Missense
c.874C>T; p.R292C; 20:49072391-49072391	skin	malignant_melanoma	Substitution - Missense
c.1976T>G; p.F659C; 20:49089541-49089541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2526T>C; p.C842C; 20:49094218-49094218	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2526T>C; p.C842C; 20:49094218-49094218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.694G>A; p.E232K; 20:49070223-49070223	breast	carcinoma	Substitution - Missense
c.2884T>G; p.Y962D; 20:49096406-49096406	breast	carcinoma	Substitution - Missense
c.248A>C; p.K83T; 20:49066211-49066211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1101G>C; p.E367D; 20:49074819-49074819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2709C>T; p.F903F; 20:49094846-49094846	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1438C>T; p.L480F; 20:49078578-49078578	skin	malignant_melanoma	Substitution - Missense
c.675+9A>G; p.?; 20:49068831-49068831	liver	carcinoma	Unknown
c.735C>A; p.L245L; 20:49070264-49070264	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675+9A>G; p.?; 20:49068831-49068831	liver	carcinoma	Unknown
c.676G>T; p.D226Y; 20:49070205-49070205	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.441T>C; p.N147N; 20:49066475-49066475	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1633G>C; p.E545Q; 20:49085296-49085296	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2811C>T; p.T937T; 20:49094948-49094948	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2811C>T; p.T937T; 20:49094948-49094948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.131T>G; p.L44R; 20:49063247-49063247	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.16G>T; p.A6S; 20:49058479-49058479	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>A; p.L500I; 20:49084041-49084041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2104C>T; p.P702S; 20:49089669-49089669	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.25C>A; p.Q9K; 20:49058488-49058488	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.757T>C; p.L253L; 20:49070286-49070286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.232G>A; p.E78K; 20:49066195-49066195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1508C>T; p.S503L; 20:49084051-49084051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1508C>T; p.S503L; 20:49084051-49084051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089A>G; p.E363E; 20:49074807-49074807	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1165C>G; p.L389V; 20:49075350-49075350	ovary	other; neoplasm	Substitution - Missense
c.222G>A; p.W74*; 20:49063338-49063338	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1695C>T; p.G565G; 20:49085358-49085358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.875G>A; p.R292H; 20:49072392-49072392	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1165C>G; p.L389V; 20:49075350-49075350	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2364G>A; p.K788K; 20:49091021-49091021	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.202A>C; p.N68H; 20:49063318-49063318	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.2125C>G; p.Q709E; 20:49089690-49089690	prostate	carcinoma	Substitution - Missense
c.1611T>C; p.N537N; 20:49084154-49084154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.682C>T; p.P228S; 20:49070211-49070211	skin	malignant_melanoma	Substitution - Missense
c.13G>A; p.D5N; 20:49058476-49058476	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1013A>G; p.N338S; 20:49072644-49072644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647C>T; p.S216L; 20:49068794-49068794	urinary_tract; bladder	carcinoma	Substitution - Missense
c.955C>T; p.Q319*; 20:49072586-49072586	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.215G>T; p.R72M; 20:49063331-49063331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.647C>T; p.S216L; 20:49068794-49068794	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.265C>T; p.R89*; 20:49066228-49066228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.265C>T; p.R89*; 20:49066228-49066228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.265C>T; p.R89*; 20:49066228-49066228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1604C>T; p.P535L; 20:49084147-49084147	skin	malignant_melanoma	Substitution - Missense
c.847G>T; p.D283Y; 20:49072364-49072364	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.45A>G; p.L15L; 20:49058508-49058508	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.826G>A; p.A276T; 20:49072343-49072343	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.A276T; 20:49072343-49072343	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2525G>T; p.C842F; 20:49094217-49094217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.598A>C; p.N200H; 20:49068745-49068745	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1953C>T; p.I651I; 20:49089378-49089378	skin	malignant_melanoma	Substitution - coding silent
c.744G>C; p.L248F; 20:49070273-49070273	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.969A>C; p.S323S; 20:49072600-49072600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1148G>C; p.R383P; 20:49075333-49075333	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2774A>G; p.K925R; 20:49094911-49094911	liver	carcinoma	Substitution - Missense
c.2774A>G; p.K925R; 20:49094911-49094911	liver	carcinoma	Substitution - Missense
c.2300G>T; p.R767M; 20:49090957-49090957	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1102G>T; p.E368*; 20:49074820-49074820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2310C>G; p.I770M; 20:49090967-49090967	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1195G>T; p.G399*; 20:49075380-49075380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2360T>A; p.I787N; 20:49091017-49091017	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1998G>A; p.V666V; 20:49089563-49089563	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2583T>C; p.Y861Y; 20:49094275-49094275	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.188C>T; p.S63L; 20:49063304-49063304	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168C>T; p.A723V; 20:49089733-49089733	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.452G>A; p.R151H; 20:49066486-49066486	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.452G>A; p.R151H; 20:49066486-49066486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>C; p.R120T; 20:49066393-49066393	breast	carcinoma	Substitution - Missense
c.1711T>G; p.Y571D; 20:49085374-49085374	breast	carcinoma	Substitution - Missense
c.1099G>C; p.E367Q; 20:49074817-49074817	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464T>C; p.I488I; 20:49078604-49078604	skin	malignant_melanoma	Substitution - coding silent
c.2133C>T; p.F711F; 20:49089698-49089698	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.992A>T; p.K331M; 20:49072623-49072623	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.139T>A; p.L47M; 20:49063255-49063255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.249A>G; p.K83K; 20:49066212-49066212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.484C>T; p.H162Y; 20:49067197-49067197	pancreas	carcinoma	Substitution - Missense
c.1099_1101delGAG; p.E367delE; 20:49074817-49074819	breast	carcinoma	Deletion - In frame
c.1325A>T; p.Q442L; 20:49075510-49075510	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2841G>A; p.V947V; 20:49096363-49096363	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.911C>T; p.T304M; 20:49072428-49072428	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.911C>T; p.T304M; 20:49072428-49072428	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.629C>A; p.S210Y; 20:49068776-49068776	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1805T>C; p.L602P; 20:49088090-49088090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371C>A; p.P124Q; 20:49066405-49066405	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1773C>T; p.I591I; 20:49088058-49088058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1094A>G; p.N365S; 20:49074812-49074812	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2780A>C; p.H927P; 20:49094917-49094917	breast	carcinoma	Substitution - Missense
c.1909G>T; p.V637F; 20:49089334-49089334	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1910T>C; p.V637A; 20:49089335-49089335	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1989C>T; p.V663V; 20:49089554-49089554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.205T>G; p.Y69D; 20:49063321-49063321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262G>A; p.D88N; 20:49066225-49066225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2365+2T>G; p.?; 20:49091024-49091024	urinary_tract; bladder	carcinoma	Unknown
c.2594+5G>A; p.?; 20:49094291-49094291	liver	carcinoma	Unknown
c.2141G>A; p.R714H; 20:49089706-49089706	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.410G>A; p.R137H; 20:49066444-49066444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.410G>A; p.R137H; 20:49066444-49066444	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1293C>T; p.I431I; 20:49075478-49075478	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2218T>C; p.S740P; 20:49090778-49090778	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.891C>A; p.I297I; 20:49072408-49072408	pancreas	carcinoma	Substitution - coding silent
c.2852T>G; p.L951R; 20:49096374-49096374	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2852T>G; p.L951R; 20:49096374-49096374	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1770C>T; p.Y590Y; 20:49088055-49088055	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.403G>T; p.V135L; 20:49066437-49066437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2245T>C; p.Y749H; 20:49090805-49090805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1467G>A; p.M489I; 20:49078607-49078607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1789C>G; p.Q597E; 20:49088074-49088074	prostate	carcinoma	Substitution - Missense
c.514G>A; p.E172K; 20:49067227-49067227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1785C>G; p.I595M; 20:49088070-49088070	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1600G>T; p.G534W; 20:49084143-49084143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2612C>T; p.S871F; 20:49094749-49094749	skin; trunk	malignant_melanoma	Substitution - Missense
c.1858G>C; p.E620Q; 20:49089283-49089283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.556A>G; p.N186D; 20:49067269-49067269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2712A>G; p.S904S; 20:49094849-49094849	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2310C>T; p.I770I; 20:49090967-49090967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.295T>C; p.L99L; 20:49066258-49066258	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.618G>A; p.R206R; 20:49068765-49068765	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.896A>C; p.N299T; 20:49072413-49072413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2540C>T; p.T847I; 20:49094232-49094232	pancreas	carcinoma	Substitution - Missense
c.2281G>A; p.E761K; 20:49090938-49090938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2383A>G; p.N795D; 20:49092063-49092063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.A843V; 20:49094220-49094220	large_intestine; colon	NS	Substitution - Missense
c.1067C>G; p.A356G; 20:49074785-49074785	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.228+1_228+4delGTAA; p.?; 20:49063345-49063348	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.949G>A; p.A317T; 20:49072580-49072580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]