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	3554
Symbol	IL1R1
Synonymous	CD121A\|D2S1473\|IL-1R-alpha\|IL1R\|IL1RA\|P80
Full name	interleukin 1 receptor, type I
Gene description	CD121 antigen-like family member A\|IL-1R-1\|IL-1RT-1\|IL-1RT1\|interleukin 1 receptor alpha, type I\|interleukin-1 receptor alpha\|interleukin-1 receptor type 1\|interleukin-1 receptor type I
Cytoband	2q12
Gene type	protein-coding
Synonymous	MIM:147810; HGNC:HGNC:5993; Ensembl:ENSG00000115594; HPRD:00994; Vega:OTTHUMG00000130783

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.640G>T; p.E214*; 2:102166266-102166266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.640G>T; p.E214*; 2:102166266-102166266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.70A>C; p.K24Q; 2:102164782-102164782	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.861_863delAAG; p.R289delR; 2:102172708-102172710	stomach	adenocarcinoma	Deletion - In frame
c.237G>T; p.E79D; 2:102164949-102164949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1401A>T; p.S467S; 2:102176450-102176450	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.312C>T; p.C104C; 2:102165130-102165130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.351G>C; p.E117D; 2:102165169-102165169	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1246G>A; p.E416K; 2:102175588-102175588	skin	malignant_melanoma	Substitution - Missense
c.1512A>T; p.K504N; 2:102176561-102176561	skin	malignant_melanoma	Substitution - Missense
c.1574C>T; p.S525F; 2:102176623-102176623	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1574C>T; p.S525F; 2:102176623-102176623	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.912A>T; p.R304S; 2:102172759-102172759	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.343G>A; p.E115K; 2:102165161-102165161	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.967G>A; p.A323T; 2:102172814-102172814	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.361T>C; p.C121R; 2:102165179-102165179	breast	carcinoma	Substitution - Missense
c.1696G>A; p.V566M; 2:102176745-102176745	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1696G>A; p.V566M; 2:102176745-102176745	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>A; p.V566M; 2:102176745-102176745	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.632G>T; p.R211L; 2:102166258-102166258	skin	malignant_melanoma	Substitution - Missense
c.632G>T; p.R211L; 2:102166258-102166258	skin	malignant_melanoma	Substitution - Missense
c.658G>A; p.E220K; 2:102168600-102168600	skin	malignant_melanoma	Substitution - Missense
c.1622A>G; p.Q541R; 2:102176671-102176671	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.878T>C; p.I293T; 2:102172725-102172725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1479C>A; p.I493I; 2:102176528-102176528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.125G>A; p.R42H; 2:102164837-102164837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.V444I; 2:102176379-102176379	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1234C>T; p.P412S; 2:102175576-102175576	thyroid	carcinoma	Substitution - Missense
c.485A>G; p.K162R; 2:102165303-102165303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1496T>C; p.M499T; 2:102176545-102176545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1062C>T; p.F354F; 2:102174657-102174657	skin	malignant_melanoma	Substitution - coding silent
c.1524G>A; p.Q508Q; 2:102176573-102176573	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.611G>A; p.G204D; 2:102166237-102166237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1031C>T; p.T344M; 2:102174626-102174626	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.679G>T; p.V227L; 2:102168621-102168621	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1627C>T; p.R543W; 2:102176676-102176676	liver	carcinoma	Substitution - Missense
c.945G>T; p.K315N; 2:102172792-102172792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>A; p.G398G; 2:102175536-102175536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.84A>C; p.E28D; 2:102164796-102164796	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.522T>C; p.F174F; 2:102166148-102166148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.183C>G; p.D61E; 2:102164895-102164895	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.253C>T; p.P85S; 2:102164965-102164965	skin	malignant_melanoma	Substitution - Missense
c.112G>A; p.E38K; 2:102164824-102164824	skin	malignant_melanoma	Substitution - Missense
c.129C>T; p.P43P; 2:102164841-102164841	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569A>G; p.P523P; 2:102176618-102176618	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.112G>A; p.E38K; 2:102164824-102164824	skin	malignant_melanoma	Substitution - Missense
c.112G>A; p.E38K; 2:102164824-102164824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1505C>T; p.S502L; 2:102176554-102176554	skin	malignant_melanoma	Substitution - Missense
c.574G>T; p.G192W; 2:102166200-102166200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1505C>T; p.S502L; 2:102176554-102176554	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.656A>C; p.E219A; 2:102168598-102168598	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.124C>T; p.R42C; 2:102164836-102164836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.191C>T; p.T64I; 2:102164903-102164903	skin; trunk	malignant_melanoma	Substitution - Missense
c.1159G>A; p.A387T; 2:102175501-102175501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1018G>A; p.G340S; 2:102174613-102174613	skin	malignant_melanoma	Substitution - Missense
c.583A>G; p.T195A; 2:102166209-102166209	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1014G>T; p.M338I; 2:102174609-102174609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.D271N; 2:102171890-102171890	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1002C>T; p.F334F; 2:102174597-102174597	skin	malignant_melanoma	Substitution - coding silent
c.517C>T; p.H173Y; 2:102166143-102166143	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1558A>T; p.T520S; 2:102176607-102176607	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.268G>A; p.D90N; 2:102164980-102164980	skin	malignant_melanoma	Substitution - Missense
c.847A>G; p.N283D; 2:102172694-102172694	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1704C>T; p.L568L; 2:102176753-102176753	breast	carcinoma	Substitution - coding silent
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	thyroid	other; neoplasm	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>A; p.Q125K; 2:102165191-102165191	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1637C>T; p.S546L; 2:102176686-102176686	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1079A>G; p.K360R; 2:102174674-102174674	liver	carcinoma	Substitution - Missense
c.1320T>A; p.I440I; 2:102176369-102176369	prostate	carcinoma	Substitution - coding silent
c.1506G>A; p.S502S; 2:102176555-102176555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.82G>A; p.E28K; 2:102164794-102164794	kidney	other; neoplasm	Substitution - Missense
c.82G>A; p.E28K; 2:102164794-102164794	skin	malignant_melanoma	Substitution - Missense
c.128C>T; p.P43L; 2:102164840-102164840	skin	malignant_melanoma	Substitution - Missense
c.128C>T; p.P43L; 2:102164840-102164840	skin	malignant_melanoma	Substitution - Missense
c.1324G>A; p.E442K; 2:102176373-102176373	skin	malignant_melanoma	Substitution - Missense
c.1324G>A; p.E442K; 2:102176373-102176373	skin	malignant_melanoma	Substitution - Missense
c.1593G>A; p.W531*; 2:102176642-102176642	skin	malignant_melanoma	Substitution - Nonsense
c.1581G>T; p.K527N; 2:102176630-102176630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1104G>T; p.R368S; 2:102174699-102174699	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1441G>A; p.D481N; 2:102176490-102176490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1305C>T; p.D435D; 2:102176354-102176354	liver	carcinoma	Substitution - coding silent
c.294A>G; p.V98V; 2:102165006-102165006	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.231C>G; p.H77Q; 2:102164943-102164943	breast	carcinoma	Substitution - Missense
c.1356C>T; p.I452I; 2:102176405-102176405	skin	malignant_melanoma	Substitution - coding silent
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371C>A; p.A124E; 2:102165189-102165189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868A>T; p.S290C; 2:102172715-102172715	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1183G>A; p.V395I; 2:102175525-102175525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005G>T; p.Q335H; 2:102174600-102174600	thyroid	other; neoplasm	Substitution - Missense
c.185G>A; p.S62N; 2:102164897-102164897	thyroid	carcinoma	Substitution - Missense
c.1152C>T; p.T384T; 2:102175494-102175494	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.399C>T; p.P133P; 2:102165217-102165217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.289G>A; p.V97M; 2:102165001-102165001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.506T>G; p.L169R; 2:102166132-102166132	skin	malignant_melanoma	Substitution - Missense
c.1158C>T; p.D386D; 2:102175500-102175500	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1667C>T; p.T556I; 2:102176716-102176716	prostate	carcinoma	Substitution - Missense
c.1125C>T; p.L375L; 2:102174720-102174720	skin	malignant_melanoma	Substitution - coding silent
c.680T>C; p.V227A; 2:102168622-102168622	central_nervous_system; brain	glioma	Substitution - Missense
c.229C>G; p.H77D; 2:102164941-102164941	central_nervous_system; medulla	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.371C>G; p.A124G; 2:102165189-102165189	thyroid	other; neoplasm	Substitution - Missense
c.287G>T; p.C96F; 2:102164999-102164999	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.V432I; 2:102175636-102175636	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1615C>T; p.P539S; 2:102176664-102176664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.944A>G; p.K315R; 2:102172791-102172791	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>A; p.A526E; 2:102176626-102176626	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1367G>A; p.R456K; 2:102176416-102176416	liver	carcinoma	Substitution - Missense
c.332C>A; p.A111E; 2:102165150-102165150	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.332C>A; p.A111E; 2:102165150-102165150	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.332C>A; p.A111E; 2:102165150-102165150	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1659A>C; p.S553S; 2:102176708-102176708	thyroid	other; neoplasm	Substitution - coding silent
c.1468C>A; p.L490M; 2:102176517-102176517	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.332C>A; p.A111E; 2:102165150-102165150	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.359T>G; p.L120*; 2:102165177-102165177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1471G>A; p.E491K; 2:102176520-102176520	skin	malignant_melanoma	Substitution - Missense
c.1152C>A; p.T384T; 2:102175494-102175494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1103G>A; p.R368K; 2:102174698-102174698	skin	malignant_melanoma	Substitution - Missense
c.1628G>A; p.R543Q; 2:102176677-102176677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1628G>A; p.R543Q; 2:102176677-102176677	skin	malignant_melanoma	Substitution - Missense
c.784delT; p.W262fs*5; 2:102171863-102171863	liver	carcinoma	Deletion - Frameshift
c.984A>T; p.I328I; 2:102172831-102172831	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation