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	5027
Symbol	P2RX7
Synonymous	P2X7
Full name	purinergic receptor P2X, ligand gated ion channel, 7
Gene description	ATP receptor\|P2X purinoceptor 7\|P2X7 receptor\|P2Z receptor\|purinergic receptor P2X, ligand-gated ion channel, 7\|purinergic receptor P2X7 variant A
Cytoband	12q24
Gene type	protein-coding
Synonymous	MIM:602566; HGNC:HGNC:8537; HPRD:03977

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.564C>T; p.F188F; 12:121165387-121165387	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.507C>T; p.P169P; 12:121162494-121162494	skin	malignant_melanoma	Substitution - coding silent
c.1032C>T; p.F344F; 12:121177206-121177206	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1782T>C; p.P594P; 12:121184796-121184796	skin	malignant_melanoma	Substitution - coding silent
c.1A>G; p.M1V; 12:121132971-121132971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1A>G; p.M1V; 12:121132971-121132971	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1611T>A; p.D537E; 12:121184625-121184625	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.G338S; 12:121177186-121177186	skin	malignant_melanoma	Substitution - Missense
c.1352C>T; p.P451L; 12:121184366-121184366	urinary_tract; bladder	carcinoma	Substitution - Missense
c.562T>C; p.F188L; 12:121165385-121165385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.562T>C; p.F188L; 12:121165385-121165385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.176G>A; p.S59N; 12:121154835-121154835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615G>C; p.T205T; 12:121166058-121166058	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.556G>A; p.E186K; 12:121165379-121165379	breast	carcinoma	Substitution - Missense
c.212T>C; p.V71A; 12:121154871-121154871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>G; p.A185A; 12:121165378-121165378	skin	malignant_melanoma	Substitution - coding silent
c.1090C>T; p.R364C; 12:121177348-121177348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.915G>T; p.E305D; 12:121175421-121175421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>T; p.S144S; 12:121160970-121160970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.991A>G; p.I331V; 12:121177165-121177165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588C>T; p.I196I; 12:121165411-121165411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1165G>A; p.E389K; 12:121177423-121177423	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.311T>C; p.V104A; 12:121156095-121156095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.311T>C; p.V104A; 12:121156095-121156095	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.E389K; 12:121177423-121177423	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.978A>C; p.G326G; 12:121177152-121177152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.227T>C; p.V76A; 12:121154886-121154886	skin	malignant_melanoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.744G>T; p.Q248H; 12:121166187-121166187	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	thyroid	other; neoplasm	Substitution - Missense
c.809G>A; p.R270H; 12:121167552-121167552	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.952G>C; p.D318H; 12:121175458-121175458	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521C>T; p.I507I; 12:121184535-121184535	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1638G>A; p.R546R; 12:121184652-121184652	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.463T>C; p.Y155H; 12:121162450-121162450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74A>G; p.N25S; 12:121133044-121133044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398G>A; p.R133Q; 12:121160936-121160936	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.887C>A; p.A296D; 12:121175393-121175393	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.887C>A; p.A296D; 12:121175393-121175393	urinary_tract; bladder	carcinoma	Substitution - Missense
c.454T>C; p.C152R; 12:121162441-121162441	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.350G>A; p.R117Q; 12:121156134-121156134	skin	malignant_melanoma	Substitution - Missense
c.1271T>C; p.V424A; 12:121180436-121180436	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1372G>C; p.E458Q; 12:121184386-121184386	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.381G>A; p.T127T; 12:121160919-121160919	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.381G>A; p.T127T; 12:121160919-121160919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.887C>T; p.A296V; 12:121175393-121175393	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1050C>A; p.F350L; 12:121177308-121177308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1602G>T; p.L534L; 12:121184616-121184616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1602G>T; p.L534L; 12:121184616-121184616	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.707G>A; p.R236Q; 12:121166150-121166150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.838G>A; p.D280N; 12:121167581-121167581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.88A>T; p.K30*; 12:121133058-121133058	NS	NS	Substitution - Nonsense
c.768C>T; p.I256I; 12:121167511-121167511	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.1228A>G; p.R410G; 12:121180393-121180393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.397C>A; p.R133R; 12:121160935-121160935	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.474C>T; p.N158N; 12:121162461-121162461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.75T>G; p.N25K; 12:121133045-121133045	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1721G>A; p.R574H; 12:121184735-121184735	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.702C>G; p.I234M; 12:121166145-121166145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.Q375*; 12:121177381-121177381	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1026C>T; p.S342S; 12:121177200-121177200	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.312G>C; p.V104V; 12:121156096-121156096	lung	carcinoma	Substitution - coding silent
c.825C>T; p.F275F; 12:121167568-121167568	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1746G>A; p.P582P; 12:121184760-121184760	breast	carcinoma	Substitution - coding silent
c.527delC; p.R178fs*5; 12:121162514-121162514	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.380C>T; p.T127M; 12:121160918-121160918	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.615-5C>G; p.?; 12:121166053-121166053	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.225C>T; p.I75I; 12:121154884-121154884	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1348delC; p.P451fs*>145; 12:121184362-121184362	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.869G>A; p.G290D; 12:121167612-121167612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>T; p.E389*; 12:121177423-121177423	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.286C>A; p.P96T; 12:121154945-121154945	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820A>T; p.S274C; 12:121167563-121167563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>A; p.Q225Q; 12:121166118-121166118	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1487A>C; p.E496A; 12:121184501-121184501	thyroid	other; neoplasm	Substitution - Missense
c.799C>T; p.H267Y; 12:121167542-121167542	skin	malignant_melanoma	Substitution - Missense
c.285C>T; p.F95F; 12:121154944-121154944	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1070C>G; p.T357S; 12:121177328-121177328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.722A>G; p.N241S; 12:121166165-121166165	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.26A>G; p.D9G; 12:121132996-121132996	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1721G>T; p.R574L; 12:121184735-121184735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1575C>G; p.F525L; 12:121184589-121184589	ovary	other; neoplasm	Substitution - Missense
c.1125G>T; p.Q375H; 12:121177383-121177383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.939C>T; p.F313F; 12:121175445-121175445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1153A>T; p.R385W; 12:121177411-121177411	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1770C>T; p.G590G; 12:121184784-121184784	skin	malignant_melanoma	Substitution - coding silent
c.532C>T; p.R178W; 12:121162519-121162519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1640delA; p.H547fs*>49; 12:121184654-121184654	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1551C>G; p.V517V; 12:121184565-121184565	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1042G>A; p.A348T; 12:121177300-121177300	breast	carcinoma	Substitution - Missense
c.111C>A; p.I37I; 12:121133081-121133081	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1187C>T; p.P396L; 12:121177445-121177445	skin	malignant_melanoma	Substitution - Missense
c.614+1G>A; p.?; 12:121165438-121165438	skin; subungual	malignant_melanoma; acral_lentiginous	Unknown
c.1065C>T; p.I355I; 12:121177323-121177323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065C>T; p.I355I; 12:121177323-121177323	breast	carcinoma	Substitution - coding silent
c.791G>A; p.R264H; 12:121167534-121167534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522A>C; p.T508P; 12:121184536-121184536	breast	carcinoma	Substitution - Missense
c.652T>G; p.F218V; 12:121166095-121166095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.338G>A; p.G113D; 12:121156122-121156122	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.482C>A; p.T161N; 12:121162469-121162469	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.75T>C; p.N25N; 12:121133045-121133045	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1009A>G; p.I337V; 12:121177183-121177183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>A; p.A176T; 12:121162513-121162513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>G; p.P169R; 12:121162493-121162493	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation