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	5080
Symbol	PAX6
Synonymous	AN\|AN2\|D11S812E\|FVH1\|MGDA\|WAGR
Full name	paired box 6
Gene description	aniridia type II protein\|oculorhombin\|paired box homeotic gene-6\|paired box protein Pax-6
Cytoband	11p13
Gene type	protein-coding
Synonymous	MIM:607108; HGNC:HGNC:8620; Ensembl:ENSG00000007372; HPRD:06167

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.270G>T; p.P90P; 11:31801690-31801690	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.288A>C; p.E96D; 11:31801672-31801672	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.994A>G; p.T332A; 11:31793518-31793518	skin	malignant_melanoma	Substitution - Missense
c.701A>G; p.E234G; 11:31794653-31794653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.384C>T; p.N128N; 11:31801576-31801576	liver	carcinoma	Substitution - coding silent
c.370G>A; p.G124R; 11:31801590-31801590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1167_1168insC; p.H390fs*36; 11:31790767-31790768	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.258T>C; p.G86G; 11:31801702-31801702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.128C>T; p.S43F; 11:31802717-31802717	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1032G>A; p.P344P; 11:31793480-31793480	pancreas	carcinoma	Substitution - coding silent
c.1212C>A; p.G404G; 11:31790723-31790723	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.329C>T; p.S110F; 11:31801631-31801631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.187T>C; p.S63P; 11:31801773-31801773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.187T>C; p.S63P; 11:31801773-31801773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.415A>G; p.R139G; 11:31800841-31800841	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1075-1G>A; p.?; 11:31790861-31790861	stomach	carcinoma; adenocarcinoma	Unknown
c.717G>A; p.L239L; 11:31794637-31794637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131G>A; p.S377S; 11:31790804-31790804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131G>A; p.S377S; 11:31790804-31790804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.130C>T; p.R44*; 11:31802715-31802715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.242G>T; p.R81I; 11:31801718-31801718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>T; p.R139I; 11:31800840-31800840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.343G>A; p.E115K; 11:31801617-31801617	skin	malignant_melanoma	Substitution - Missense
c.580C>A; p.Q194K; 11:31794774-31794774	skin	malignant_melanoma	Substitution - Missense
c.1142G>A; p.R381Q; 11:31790793-31790793	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.600T>A; p.N200K; 11:31794754-31794754	kidney	other; neoplasm	Substitution - Missense
c.17G>T; p.S6I; 11:31802828-31802828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>T; p.S322F; 11:31793547-31793547	skin	malignant_melanoma	Substitution - Missense
c.410T>C; p.I137T; 11:31800846-31800846	liver	carcinoma	Substitution - Missense
c.421C>A; p.L141I; 11:31800835-31800835	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.34G>A; p.G12S; 11:31802811-31802811	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>A; p.L410L; 11:31790015-31790015	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.474T>C; p.D158D; 11:31800782-31800782	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.734G>T; p.R245I; 11:31794105-31794105	breast	carcinoma	Substitution - Missense
c.518G>A; p.R173H; 11:31800738-31800738	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1111A>T; p.M371L; 11:31790824-31790824	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.439G>A; p.E147K; 11:31800817-31800817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.518G>A; p.R173H; 11:31800738-31800738	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.621C>T; p.N207N; 11:31794733-31794733	breast	carcinoma	Substitution - coding silent
c.749A>C; p.D250A; 11:31794090-31794090	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446A>G; p.Q149R; 11:31800810-31800810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597G>A; p.E199E; 11:31794757-31794757	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1272T>C; p.S424S; 11:31789973-31789973	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1166_1167insCC; p.M391fs*6; 11:31790768-31790769	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.555A>G; p.Q185Q; 11:31800701-31800701	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1166_1167insC; p.H390fs*36; 11:31790768-31790769	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1166_1167insC; p.H390fs*36; 11:31790768-31790769	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1031C>T; p.P344L; 11:31793481-31793481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1166_1167insC; p.H390fs*36; 11:31790768-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1166_1167insC; p.H390fs*36; 11:31790768-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.870A>G; p.R290R; 11:31793740-31793740	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.492C>A; p.N164K; 11:31800764-31800764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>T; p.G18V; 11:31802792-31802792	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.595G>C; p.E199Q; 11:31794759-31794759	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.469T>C; p.Y157H; 11:31800787-31800787	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.95T>C; p.L32P; 11:31802750-31802750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.123C>A; p.D41E; 11:31802722-31802722	liver	carcinoma	Substitution - Missense
c.959-2A>G; p.?; 11:31793555-31793555	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.817T>C; p.S273P; 11:31793793-31793793	central_nervous_system; brain	glioma	Substitution - Missense
c.399+1G>A; p.?; 11:31801560-31801560	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.372G>T; p.G124G; 11:31801588-31801588	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.399+1G>A; p.?; 11:31801560-31801560	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.625G>A; p.E209K; 11:31794729-31794729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.959-2A>T; p.?; 11:31793555-31793555	lung	carcinoma; adenocarcinoma	Unknown
c.1050C>T; p.T350T; 11:31793462-31793462	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.223_224insGAGACT; p.Y74_Y75ins*; 11:31801736-31801737	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - In frame
c.236C>A; p.S79Y; 11:31801724-31801724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.536G>T; p.G179V; 11:31800720-31800720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1137T>C; p.N379N; 11:31790798-31790798	skin	malignant_melanoma	Substitution - coding silent
c.400-2A>T; p.?; 11:31800858-31800858	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.569G>T; p.G190V; 11:31794785-31794785	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1089C>G; p.S363R; 11:31790846-31790846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753G>A; p.V251V; 11:31794086-31794086	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1202G>A; p.G401D; 11:31790733-31790733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.267A>G; p.K89K; 11:31801693-31801693	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.831C>T; p.A277A; 11:31793779-31793779	pancreas	NS	Substitution - coding silent
c.738C>A; p.T246T; 11:31794101-31794101	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.122A>T; p.D41V; 11:31802723-31802723	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>T; p.D210Y; 11:31794726-31794726	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>T; p.R119I; 11:31801604-31801604	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1075-1G>T; p.?; 11:31790861-31790861	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.593G>A; p.G198E; 11:31794761-31794761	skin	malignant_melanoma	Substitution - Missense
c.242G>A; p.R81K; 11:31801718-31801718	skin; trunk	malignant_melanoma	Substitution - Missense
c.866G>T; p.R289I; 11:31793744-31793744	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.736A>G; p.T246A; 11:31794103-31794103	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.T187M; 11:31800696-31800696	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.583G>A; p.E195K; 11:31794771-31794771	skin; neck	malignant_melanoma	Substitution - Missense
c.399C>T; p.S133S; 11:31801561-31801561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.399C>T; p.S133S; 11:31801561-31801561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.891T>C; p.S297S; 11:31793719-31793719	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.891T>C; p.S297S; 11:31793719-31793719	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.445C>G; p.Q149E; 11:31800811-31800811	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1208C>T; p.S403L; 11:31790727-31790727	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1057A>G; p.N353D; 11:31793455-31793455	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.256G>A; p.G86S; 11:31801704-31801704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.480A>G; p.L160L; 11:31800776-31800776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.635A>T; p.D212V; 11:31794719-31794719	ovary	carcinoma	Substitution - Missense
c.622G>T; p.G208*; 11:31794732-31794732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.278C>T; p.A93V; 11:31801682-31801682	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.P174S; 11:31800736-31800736	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.725-1G>T; p.?; 11:31794115-31794115	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1266C>T; p.P422P; 11:31789979-31789979	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.502G>A; p.G168R; 11:31800754-31800754	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>A; p.C108Y; 11:31801637-31801637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116C>T; p.P39L; 11:31802729-31802729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1159_1160insCC; p.M391fs*6; 11:31790775-31790776	large_intestine; colon	carcinoma	Insertion - Frameshift
c.135T>A; p.I45I; 11:31802710-31802710	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.463G>A; p.G155S; 11:31800793-31800793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166delC; p.P389fs*7; 11:31790769-31790769	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.950C>T; p.T317I; 11:31793660-31793660	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.649C>G; p.R217G; 11:31794705-31794705	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1022G>A; p.S341N; 11:31793490-31793490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1022G>A; p.S341N; 11:31793490-31793490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.457G>A; p.A153T; 11:31800799-31800799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.P345S; 11:31793479-31793479	prostate	carcinoma	Substitution - Missense
c.650G>A; p.R217Q; 11:31794704-31794704	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.655C>T; p.Q219*; 11:31794699-31794699	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.433G>A; p.A145T; 11:31800823-31800823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.565+1G>T; p.?; 11:31800690-31800690	lung	carcinoma; adenocarcinoma	Unknown
c.793G>A; p.E265K; 11:31794046-31794046	skin	malignant_melanoma	Substitution - Missense
c.327G>A; p.P109P; 11:31801633-31801633	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.949_956delACCACACC; p.T317fs*35; 11:31793654-31793661	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.949_956delACCACACC; p.T317fs*35; 11:31793654-31793661	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.56G>T; p.R19L; 11:31802789-31802789	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.112C>A; p.R38R; 11:31802733-31802733	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.286G>A; p.E96K; 11:31801674-31801674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.801A>G; p.R267R; 11:31794038-31794038	ovary	carcinoma; serous_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation