lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	43
Symbol	ACHE
Synonymous	ACEE\|ARACHE\|N-ACHE\|YT
Full name	acetylcholinesterase (Yt blood group)
Gene description	Yt blood group\|acetylcholinesterase\|apoptosis-related acetylcholinesterase
Cytoband	7q22
Gene type	protein-coding
Synonymous	MIM:100740; HGNC:HGNC:108; Ensembl:ENSG00000087085; HPRD:00010; Vega:OTTHUMG00000157033

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.294T>C; p.S98S; 7:100893939-100893939	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.149G>A; p.G50D; 7:100894084-100894084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1491G>A; p.T497T; 7:100892396-100892396	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1633G>A; p.D545N; 7:100891259-100891259	skin	malignant_melanoma	Substitution - Missense
c.929A>T; p.Q310L; 7:100893304-100893304	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1599G>A; p.P533P; 7:100891293-100891293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.375G>T; p.E125D; 7:100893858-100893858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.242C>T; p.P81L; 7:100893991-100893991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>A; p.L258M; 7:100893461-100893461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820G>A; p.E274K; 7:100893413-100893413	skin	malignant_melanoma	Substitution - Missense
c.1155C>T; p.I385I; 7:100892732-100892732	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506C>T; p.I502I; 7:100892381-100892381	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.306A>G; p.Q102Q; 7:100893927-100893927	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.423C>T; p.S141S; 7:100893810-100893810	skin	malignant_melanoma	Substitution - coding silent
c.1606G>A; p.A536T; 7:100891286-100891286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1606G>A; p.A536T; 7:100891286-100891286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1606G>A; p.A536T; 7:100891286-100891286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.243G>A; p.P81P; 7:100893990-100893990	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.243G>A; p.P81P; 7:100893990-100893990	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.243G>A; p.P81P; 7:100893990-100893990	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.243G>A; p.P81P; 7:100893990-100893990	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1257C>T; p.P419P; 7:100892630-100892630	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1775C>G; p.P592R; 7:100891037-100891037	breast	carcinoma	Substitution - Missense
c.1775C>G; p.P592R; 7:100891037-100891037	thyroid	other; neoplasm	Substitution - Missense
c.954C>T; p.H318H; 7:100893279-100893279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1057C>A; p.H353N; 7:100893176-100893176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>T; p.F503F; 7:100892378-100892378	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1434C>T; p.H478H; 7:100892453-100892453	pancreas	carcinoma	Substitution - coding silent
c.764G>T; p.R255M; 7:100893469-100893469	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>G; p.P477A; 7:100892458-100892458	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1036C>A; p.L346I; 7:100893197-100893197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.393C>T; p.N131N; 7:100893840-100893840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.393C>T; p.N131N; 7:100893840-100893840	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.131G>A; p.R44H; 7:100894102-100894102	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1582G>A; p.A528T; 7:100891310-100891310	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.704C>A; p.A235E; 7:100893529-100893529	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.D415N; 7:100892644-100892644	breast	carcinoma	Substitution - Missense
c.704C>A; p.A235E; 7:100893529-100893529	ovary	other; neoplasm	Substitution - Missense
c.1640G>T; p.R547L; 7:100891252-100891252	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1291G>A; p.D431N; 7:100892596-100892596	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1145A>C; p.E382A; 7:100892742-100892742	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1654C>T; p.R552W; 7:100891238-100891238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>G; p.G46G; 7:100894095-100894095	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1461G>C; p.G487G; 7:100892426-100892426	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.284C>T; p.T95I; 7:100893949-100893949	skin	malignant_melanoma	Substitution - Missense
c.1441G>A; p.E481K; 7:100892446-100892446	skin	malignant_melanoma	Substitution - Missense
c.1441G>A; p.E481K; 7:100892446-100892446	skin	malignant_melanoma	Substitution - Missense
c.1441G>A; p.E481K; 7:100892446-100892446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1604C>T; p.T535M; 7:100891288-100891288	stomach	adenocarcinoma	Substitution - Missense
c.277G>A; p.A93T; 7:100893956-100893956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1705A>C; p.K569Q; 7:100891187-100891187	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1705A>C; p.K569Q; 7:100891187-100891187	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1705A>C; p.K569Q; 7:100891187-100891187	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1705A>C; p.K569Q; 7:100891187-100891187	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.934C>T; p.L312L; 7:100893299-100893299	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.934C>T; p.L312L; 7:100893299-100893299	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.499C>T; p.R167C; 7:100893734-100893734	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.169G>T; p.G57W; 7:100894064-100894064	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1478C>T; p.S493F; 7:100892409-100892409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.G236R; 7:100893527-100893527	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1244A>G; p.D415G; 7:100892643-100892643	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.287T>C; p.F96S; 7:100893946-100893946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.967G>T; p.E323*; 7:100893266-100893266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.847G>A; p.A283T; 7:100893386-100893386	liver	carcinoma	Substitution - Missense
c.10C>T; p.P4S; 7:100894223-100894223	pancreas	carcinoma	Substitution - Missense
c.1612G>A; p.A538T; 7:100891280-100891280	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1526G>A; p.R509Q; 7:100892361-100892361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.238C>T; p.P80S; 7:100893995-100893995	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1044C>T; p.N348N; 7:100893189-100893189	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.238C>T; p.P80S; 7:100893995-100893995	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1663C>G; p.L555V; 7:100891229-100891229	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1663C>G; p.L555V; 7:100891229-100891229	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1663C>G; p.L555V; 7:100891229-100891229	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327G>T; p.A443S; 7:100892560-100892560	pancreas	carcinoma	Substitution - Missense
c.1663C>G; p.L555V; 7:100891229-100891229	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1279G>A; p.E427K; 7:100892608-100892608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.961C>T; p.P321S; 7:100893272-100893272	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.489G>T; p.V163V; 7:100893744-100893744	thyroid	other; neoplasm	Substitution - coding silent
c.868C>G; p.P290A; 7:100893365-100893365	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.636G>A; p.Q212Q; 7:100893597-100893597	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.313G>T; p.D105Y; 7:100893920-100893920	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1334T>A; p.L445Q; 7:100892553-100892553	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.323A>G; p.Y108C; 7:100893910-100893910	breast	carcinoma	Substitution - Missense
c.1275G>A; p.L425L; 7:100892612-100892612	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1616A>G; p.Q539R; 7:100891276-100891276	breast	carcinoma	Substitution - Missense
c.1431C>T; p.P477P; 7:100892456-100892456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1431C>T; p.P477P; 7:100892456-100892456	thyroid	other; neoplasm	Substitution - coding silent
c.1117G>A; p.G373R; 7:100892770-100892770	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.990C>T; p.F330F; 7:100893243-100893243	skin	malignant_melanoma	Substitution - coding silent
c.1481G>A; p.R494Q; 7:100892406-100892406	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1391G>A; p.R464H; 7:100892496-100892496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>T; p.T269M; 7:100893427-100893427	skin	malignant_melanoma	Substitution - Missense
c.1398C>A; p.S466S; 7:100892489-100892489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1735C>T; p.P579S; 7:100891077-100891077	pancreas	carcinoma	Substitution - Missense
c.227G>A; p.R76H; 7:100894006-100894006	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1314C>T; p.V438V; 7:100892573-100892573	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.687G>A; p.T229T; 7:100893546-100893546	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.687G>A; p.T229T; 7:100893546-100893546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.980G>C; p.R327P; 7:100893253-100893253	ovary	other; neoplasm	Substitution - Missense
c.1704_1705insC; p.K569fs*>50; 7:100891187-100891188	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.173G>A; p.G58D; 7:100894060-100894060	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.556G>A; p.A186T; 7:100893677-100893677	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1557T>C; p.D519D; 7:100891335-100891335	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510G>A; p.A504T; 7:100892377-100892377	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1444A>G; p.I482V; 7:100892443-100892443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>T; p.R327W; 7:100893254-100893254	skin	malignant_melanoma	Substitution - Missense
c.1588C>T; p.Q530*; 7:100891304-100891304	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.979C>T; p.R327W; 7:100893254-100893254	skin	malignant_melanoma	Substitution - Missense
c.781G>A; p.G261S; 7:100893452-100893452	urinary_tract; bladder	carcinoma	Substitution - Missense
c.945C>T; p.H315H; 7:100893288-100893288	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1141A>C; p.N381H; 7:100892746-100892746	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1503A>C; p.K501N; 7:100892384-100892384	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1554G>A; p.G518G; 7:100891338-100891338	skin	malignant_melanoma	Substitution - coding silent
c.1371C>T; p.Y457Y; 7:100892516-100892516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1623C>T; p.Y541Y; 7:100891269-100891269	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1553+1G>A; p.?; 7:100892333-100892333	stomach	carcinoma; adenocarcinoma	Unknown
c.225C>A; p.P75P; 7:100894008-100894008	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.926C>G; p.A309G; 7:100893307-100893307	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1397C>T; p.S466F; 7:100892490-100892490	skin	malignant_melanoma	Substitution - Missense
c.703G>A; p.A235T; 7:100893530-100893530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.981G>T; p.R327R; 7:100893252-100893252	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1400C>T; p.T467M; 7:100892487-100892487	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation