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	3696
Symbol	ITGB8
Synonymous	-
Full name	integrin, beta 8
Gene description	integrin beta-8
Cytoband	7p21.1
Gene type	protein-coding
Synonymous	MIM:604160; HGNC:HGNC:6163; Ensembl:ENSG00000105855; HPRD:05001; Vega:OTTHUMG00000023594

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.128A>C; p.E43A; 7:20363637-20363637	thyroid	carcinoma	Substitution - Missense
c.375C>T; p.I125I; 7:20367173-20367173	skin	malignant_melanoma	Substitution - coding silent
c.1462G>T; p.D488Y; 7:20401901-20401901	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>T; p.E330D; 7:20391432-20391432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.990G>T; p.E330D; 7:20391432-20391432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2180C>T; p.S727L; 7:20409771-20409771	skin	malignant_melanoma	Substitution - Missense
c.467C>G; p.S156*; 7:20379129-20379129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1688-8C>T; p.?; 7:20404620-20404620	skin	malignant_melanoma	Unknown
c.1688-8C>T; p.?; 7:20404620-20404620	skin	malignant_melanoma	Unknown
c.613G>A; p.E205K; 7:20379275-20379275	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613G>A; p.E205K; 7:20379275-20379275	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1034G>A; p.G345E; 7:20391476-20391476	skin	malignant_melanoma	Substitution - Missense
c.219C>T; p.F73F; 7:20367017-20367017	skin	malignant_melanoma	Substitution - coding silent
c.622C>T; p.H208Y; 7:20379284-20379284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575T>C; p.V192A; 7:20379237-20379237	breast	carcinoma	Substitution - Missense
c.1826G>A; p.C609Y; 7:20404766-20404766	liver	carcinoma	Substitution - Missense
c.1826G>A; p.C609Y; 7:20404766-20404766	liver	carcinoma	Substitution - Missense
c.2056T>G; p.F686V; 7:20409647-20409647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2055A>G; p.I685M; 7:20409646-20409646	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2055A>G; p.I685M; 7:20409646-20409646	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>A; p.E566K; 7:20404636-20404636	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49C>T; p.Q17*; 7:20331855-20331855	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1696G>A; p.E566K; 7:20404636-20404636	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1001A>G; p.D334G; 7:20391443-20391443	breast	carcinoma	Substitution - Missense
c.1149G>T; p.K383N; 7:20398862-20398862	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>T; p.V315V; 7:20381870-20381870	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1818_1819delGT; p.C609fs*4; 7:20404758-20404759	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1466C>T; p.S489F; 7:20401905-20401905	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1820G>A; p.C607Y; 7:20404760-20404760	skin	malignant_melanoma	Substitution - Missense
c.1820G>A; p.C607Y; 7:20404760-20404760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1264G>A; p.V422M; 7:20398977-20398977	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.643A>G; p.N215D; 7:20380673-20380673	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2137A>T; p.S713C; 7:20409728-20409728	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1538C>T; p.S513L; 7:20401977-20401977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.661C>T; p.P221S; 7:20380691-20380691	skin	malignant_melanoma	Substitution - Missense
c.101C>A; p.S34*; 7:20331907-20331907	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1682G>T; p.C561F; 7:20402121-20402121	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.A157T; 7:20379131-20379131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1489A>G; p.N497D; 7:20401928-20401928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1869C>A; p.F623L; 7:20404809-20404809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1442G>A; p.C481Y; 7:20401881-20401881	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1442G>A; p.C481Y; 7:20401881-20401881	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1016T>C; p.V339A; 7:20391458-20391458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>T; p.N312N; 7:20381861-20381861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.436C>T; p.P146S; 7:20379098-20379098	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.436C>T; p.P146S; 7:20379098-20379098	skin	malignant_melanoma	Substitution - Missense
c.602G>T; p.S201I; 7:20379264-20379264	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1461A>G; p.L487L; 7:20401900-20401900	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.833G>T; p.R278I; 7:20381758-20381758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.314A>G; p.H105R; 7:20367112-20367112	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434A>G; p.Y145C; 7:20379096-20379096	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.872C>T; p.A291V; 7:20381797-20381797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.382C>T; p.R128C; 7:20367180-20367180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2224G>A; p.V742I; 7:20409911-20409911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.554G>A; p.R185H; 7:20379216-20379216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2105T>C; p.L702P; 7:20409696-20409696	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1260A>G; p.R420R; 7:20398973-20398973	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.914G>A; p.G305E; 7:20381839-20381839	skin	malignant_melanoma	Substitution - Missense
c.1199_1200insT; p.N402fs*1; 7:20398912-20398913	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1645G>T; p.D549Y; 7:20402084-20402084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1425A>T; p.R475S; 7:20401864-20401864	breast	carcinoma	Substitution - Missense
c.506T>G; p.V169G; 7:20379168-20379168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>C; p.R206T; 7:20379279-20379279	skin	malignant_melanoma	Substitution - Missense
c.1869C>T; p.F623F; 7:20404809-20404809	NS	NS	Substitution - coding silent
c.545G>A; p.R182H; 7:20379207-20379207	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.90C>A; p.A30A; 7:20331896-20331896	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2109C>G; p.I703M; 7:20409700-20409700	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1251A>G; p.E417E; 7:20398964-20398964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.392C>A; p.A131D; 7:20379054-20379054	kidney	other; neoplasm	Substitution - Missense
c.418C>T; p.H140Y; 7:20379080-20379080	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1819T>C; p.C607R; 7:20404759-20404759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1819T>C; p.C607R; 7:20404759-20404759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.D213N; 7:20380667-20380667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.676C>T; p.H226Y; 7:20380706-20380706	skin	malignant_melanoma	Substitution - Missense
c.1310A>C; p.K437T; 7:20401749-20401749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.635+6T>C; p.?; 7:20379303-20379303	stomach	carcinoma; adenocarcinoma	Unknown
c.44G>A; p.C15Y; 7:20331850-20331850	skin	malignant_melanoma	Substitution - Missense
c.636-1G>T; p.?; 7:20380665-20380665	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1371A>G; p.E457E; 7:20401810-20401810	skin	malignant_melanoma	Substitution - coding silent
c.226_227GG>AA; p.G76N; 7:20367024-20367025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1057G>A; p.D353N; 7:20394896-20394896	skin	malignant_melanoma	Substitution - Missense
c.618G>A; p.R206R; 7:20379280-20379280	skin	malignant_melanoma	Substitution - coding silent
c.618G>A; p.R206R; 7:20379280-20379280	skin	malignant_melanoma	Substitution - coding silent
c.1171C>T; p.Q391*; 7:20398884-20398884	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1426G>T; p.G476*; 7:20401865-20401865	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.484A>C; p.N162H; 7:20379146-20379146	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1309delA; p.K438fs*12; 7:20401748-20401748	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.513C>T; p.N171N; 7:20379175-20379175	breast	carcinoma	Substitution - coding silent
c.1980A>G; p.S660S; 7:20406128-20406128	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.321delA; p.I108fs*11; 7:20367119-20367119	liver	carcinoma	Deletion - Frameshift
c.75G>T; p.S25S; 7:20331881-20331881	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.473C>T; p.S158L; 7:20379135-20379135	skin	malignant_melanoma	Substitution - Missense
c.2086A>T; p.I696F; 7:20409677-20409677	liver	carcinoma	Substitution - Missense
c.1000G>A; p.D334N; 7:20391442-20391442	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.E427K; 7:20398992-20398992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.505G>A; p.V169I; 7:20379167-20379167	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.208C>T; p.Q70*; 7:20363717-20363717	skin	malignant_melanoma	Substitution - Nonsense
c.1864C>T; p.R622C; 7:20404804-20404804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.319A>T; p.I107L; 7:20367117-20367117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1064T>C; p.L355P; 7:20394903-20394903	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1202T>G; p.F401C; 7:20398915-20398915	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1383T>G; p.I461M; 7:20401822-20401822	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.653G>A; p.C218Y; 7:20380683-20380683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>A; p.C218Y; 7:20380683-20380683	large_intestine; colon	carcinoma	Substitution - Missense
c.653G>A; p.C218Y; 7:20380683-20380683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>A; p.D304E; 7:20381837-20381837	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1651T>C; p.F551L; 7:20402090-20402090	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.389-1G>T; p.?; 7:20379050-20379050	lung	carcinoma; adenocarcinoma	Unknown
c.1740T>G; p.G580G; 7:20404680-20404680	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740T>G; p.G580G; 7:20404680-20404680	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.553C>T; p.R185C; 7:20379215-20379215	NS	malignant_melanoma	Substitution - Missense
c.553C>T; p.R185C; 7:20379215-20379215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>T; p.R185C; 7:20379215-20379215	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.393C>T; p.A131A; 7:20379055-20379055	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.19G>A; p.A7T; 7:20331825-20331825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1353A>T; p.K451N; 7:20401792-20401792	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.393C>T; p.A131A; 7:20379055-20379055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2140A>G; p.N714D; 7:20409731-20409731	skin	malignant_melanoma	Substitution - Missense
c.1653T>A; p.F551L; 7:20402092-20402092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>C; p.G271R; 7:20381736-20381736	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1151T>A; p.L384H; 7:20398864-20398864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>A; p.A56T; 7:20363675-20363675	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1760C>T; p.S587L; 7:20404700-20404700	breast	carcinoma	Substitution - Missense
c.1644G>T; p.K548N; 7:20402083-20402083	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.74C>T; p.S25L; 7:20331880-20331880	skin	malignant_melanoma	Substitution - Missense
c.870C>T; p.L290L; 7:20381795-20381795	skin	malignant_melanoma	Substitution - coding silent
c.198A>G; p.G66G; 7:20363707-20363707	skin; back	malignant_melanoma	Substitution - coding silent
c.1086T>C; p.I362I; 7:20394925-20394925	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1221T>C; p.C407C; 7:20398934-20398934	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.502T>C; p.S168P; 7:20379164-20379164	liver	carcinoma	Substitution - Missense
c.502T>C; p.S168P; 7:20379164-20379164	liver	carcinoma	Substitution - Missense
c.382C>A; p.R128S; 7:20367180-20367180	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.20_21insT; p.T10fs*34; 7:20331826-20331827	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.20_21insT; p.T10fs*34; 7:20331826-20331827	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.20_21insT; p.T10fs*34; 7:20331826-20331827	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2126T>G; p.L709R; 7:20409717-20409717	skin; neck	malignant_melanoma	Substitution - Missense
c.1212C>T; p.T404T; 7:20398925-20398925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664A>G; p.Y555C; 7:20402103-20402103	central_nervous_system; brain	glioma	Substitution - Missense
c.2062A>G; p.I688V; 7:20409653-20409653	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.155C>T; p.A52V; 7:20363664-20363664	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2031C>T; p.F677F; 7:20409622-20409622	liver	carcinoma	Substitution - coding silent
c.438T>G; p.P146P; 7:20379100-20379100	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459C>T; p.L487L; 7:20401898-20401898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1623G>T; p.V541V; 7:20402062-20402062	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.775G>A; p.A259T; 7:20380805-20380805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2265T>C; p.D755D; 7:20409952-20409952	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1436G>A; p.G479E; 7:20401875-20401875	skin	malignant_melanoma	Substitution - Missense
c.988G>T; p.E330*; 7:20391430-20391430	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1119C>T; p.L373L; 7:20394958-20394958	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.504C>T; p.S168S; 7:20379166-20379166	large_intestine; colon	NS	Substitution - coding silent
c.885A>G; p.K295K; 7:20381810-20381810	liver	carcinoma	Substitution - coding silent
c.885A>C; p.K295N; 7:20381810-20381810	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.215A>G; p.D72G; 7:20367013-20367013	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.504C>T; p.S168S; 7:20379166-20379166	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.885A>G; p.K295K; 7:20381810-20381810	liver	carcinoma	Substitution - coding silent
c.508G>A; p.G170R; 7:20379170-20379170	skin	malignant_melanoma	Substitution - Missense
c.1307T>C; p.M436T; 7:20401746-20401746	ovary	other; neoplasm	Substitution - Missense
c.643A>C; p.N215H; 7:20380673-20380673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2309delA; p.*770fs?; 7:20409996-20409996	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.213_213+1GG>AA; p.?; 7:20363722-20363723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2309delA; p.*770fs?; 7:20409996-20409996	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2192A>G; p.K731R; 7:20409879-20409879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.224C>T; p.S75L; 7:20367022-20367022	urinary_tract; bladder	carcinoma	Substitution - Missense
c.224C>T; p.S75L; 7:20367022-20367022	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1045C>T; p.H349Y; 7:20391487-20391487	skin	malignant_melanoma	Substitution - Missense
c.2011G>A; p.D671N; 7:20406159-20406159	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>A; p.D671N; 7:20406159-20406159	skin	malignant_melanoma	Substitution - Missense
c.2010C>T; p.V670V; 7:20406158-20406158	skin	malignant_melanoma	Substitution - coding silent
c.2010C>T; p.V670V; 7:20406158-20406158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2299T>C; p.C767R; 7:20409986-20409986	prostate	carcinoma	Substitution - Missense
c.1422C>A; p.N474K; 7:20401861-20401861	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.170G>T; p.R57M; 7:20363679-20363679	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1661C>T; p.P554L; 7:20402100-20402100	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.170G>T; p.R57M; 7:20363679-20363679	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1730G>A; p.G577D; 7:20404670-20404670	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1076C>T; p.P359L; 7:20394915-20394915	skin	malignant_melanoma	Substitution - Missense
c.1000G>T; p.D334Y; 7:20391442-20391442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.591A>C; p.S197S; 7:20379253-20379253	skin	malignant_melanoma	Substitution - coding silent
c.217T>C; p.F73L; 7:20367015-20367015	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation