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	3996
Symbol	LLGL1
Synonymous	DLG4\|HUGL\|HUGL-1\|HUGL1\|LLGL
Full name	lethal giant larvae homolog 1 (Drosophila)
Gene description	human homolog to the D-lgl gene protein\|lethal(2) giant larvae protein homolog 1
Cytoband	17p11.2
Gene type	protein-coding
Synonymous	MIM:600966; HGNC:HGNC:6628; Ensembl:ENSG00000131899; HPRD:02982; Vega:OTTHUMG00000059396

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.569G>A; p.R190H; 17:18234030-18234030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3115G>C; p.G1039R; 17:18242627-18242627	breast	carcinoma	Substitution - Missense
c.1408C>T; p.L470F; 17:18236662-18236662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1016G>A; p.R339H; 17:18234949-18234949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2549C>T; p.T850M; 17:18241497-18241497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.882T>G; p.I294M; 17:18234680-18234680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1155A>T; p.P385P; 17:18235183-18235183	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2482G>A; p.A828T; 17:18240853-18240853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2482G>A; p.A828T; 17:18240853-18240853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2863C>T; p.R955C; 17:18241980-18241980	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1982G>A; p.R661H; 17:18238144-18238144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.167G>T; p.G56V; 17:18230026-18230026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.115G>A; p.A39T; 17:18229974-18229974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.179+1G>A; p.?; 17:18230039-18230039	pancreas	carcinoma	Unknown
c.364C>T; p.P122S; 17:18232774-18232774	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.535G>A; p.G179S; 17:18233920-18233920	liver	carcinoma	Substitution - Missense
c.535G>A; p.G179S; 17:18233920-18233920	liver	carcinoma	Substitution - Missense
c.1769G>A; p.R590H; 17:18237638-18237638	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.535G>A; p.G179S; 17:18233920-18233920	liver	carcinoma	Substitution - Missense
c.1769G>A; p.R590H; 17:18237638-18237638	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1769G>A; p.R590H; 17:18237638-18237638	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2245T>C; p.S749P; 17:18240616-18240616	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.T273T; 17:18234377-18234377	skin	malignant_melanoma	Substitution - coding silent
c.2329G>A; p.V777M; 17:18240700-18240700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.681G>A; p.S227S; 17:18234142-18234142	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.650G>A; p.R217Q; 17:18234111-18234111	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.S643S; 17:18238091-18238091	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.255C>T; p.T85T; 17:18232570-18232570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.764C>T; p.S255L; 17:18234322-18234322	urinary_tract; bladder	carcinoma	Substitution - Missense
c.265C>T; p.R89C; 17:18232675-18232675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.547C>T; p.R183C; 17:18233932-18233932	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1749G>A; p.W583*; 17:18237618-18237618	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.1677C>T; p.L559L; 17:18237546-18237546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1618G>A; p.V540I; 17:18237487-18237487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2224A>G; p.T742A; 17:18240595-18240595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.915T>C; p.F305F; 17:18234848-18234848	liver	carcinoma	Substitution - coding silent
c.1230C>A; p.A410A; 17:18235258-18235258	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2665G>A; p.V889I; 17:18241613-18241613	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1214C>G; p.P405R; 17:18235242-18235242	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1214C>G; p.P405R; 17:18235242-18235242	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1501C>T; p.R501C; 17:18236755-18236755	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1501C>T; p.R501C; 17:18236755-18236755	oesophagus	carcinoma	Substitution - Missense
c.1968C>T; p.L656L; 17:18238130-18238130	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1947G>A; p.P649P; 17:18238109-18238109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.359A>G; p.Q120R; 17:18232769-18232769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.210C>T; p.G70G; 17:18232525-18232525	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.714+5G>A; p.?; 17:18234180-18234180	pancreas	carcinoma	Unknown
c.647G>A; p.S216N; 17:18234108-18234108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2662C>A; p.H888N; 17:18241610-18241610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2865C>T; p.R955R; 17:18241982-18241982	breast	carcinoma	Substitution - coding silent
c.2742G>A; p.S914S; 17:18241690-18241690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2865C>T; p.R955R; 17:18241982-18241982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395G>A; p.V465V; 17:18236649-18236649	skin	malignant_melanoma	Substitution - coding silent
c.939C>T; p.P313P; 17:18234872-18234872	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.796G>A; p.V266M; 17:18234354-18234354	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2820G>C; p.R940R; 17:18241937-18241937	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2737G>A; p.A913T; 17:18241685-18241685	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2687G>A; p.R896Q; 17:18241635-18241635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.980G>A; p.R327Q; 17:18234913-18234913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.155G>A; p.G52D; 17:18230014-18230014	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.R501H; 17:18236756-18236756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.S414S; 17:18235270-18235270	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.442A>G; p.S148G; 17:18233827-18233827	urinary_tract; bladder	carcinoma	Substitution - Missense
c.139C>T; p.R47C; 17:18229998-18229998	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.442A>G; p.S148G; 17:18233827-18233827	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.442A>G; p.S148G; 17:18233827-18233827	thyroid	other; neoplasm	Substitution - Missense
c.538G>A; p.E180K; 17:18233923-18233923	prostate	carcinoma	Substitution - Missense
c.607G>A; p.G203R; 17:18234068-18234068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1713C>T; p.H571H; 17:18237582-18237582	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.455C>T; p.A152V; 17:18233840-18233840	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1725C>T; p.S575S; 17:18237594-18237594	skin	malignant_melanoma	Substitution - coding silent
c.2741C>T; p.S914L; 17:18241689-18241689	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>T; p.D187D; 17:18234022-18234022	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.358C>T; p.Q120*; 17:18232768-18232768	skin; arm	malignant_melanoma	Substitution - Nonsense
c.97T>C; p.F33L; 17:18229956-18229956	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1657A>T; p.S553C; 17:18237526-18237526	skin	malignant_melanoma	Substitution - Missense
c.97T>C; p.F33L; 17:18229956-18229956	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>T; p.R327*; 17:18234912-18234912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2746G>A; p.V916I; 17:18241694-18241694	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1534G>A; p.D512N; 17:18236862-18236862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>T; p.G126C; 17:18232786-18232786	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2159C>T; p.S720L; 17:18238562-18238562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>T; p.G126C; 17:18232786-18232786	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.376G>T; p.G126C; 17:18232786-18232786	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2869G>A; p.A957T; 17:18241986-18241986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1232G>C; p.R411P; 17:18235260-18235260	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1205C>T; p.A402V; 17:18235233-18235233	skin	malignant_melanoma	Substitution - Missense
c.2223C>T; p.P741P; 17:18240594-18240594	skin	malignant_melanoma	Substitution - coding silent
c.2713C>T; p.R905W; 17:18241661-18241661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1955G>A; p.R652Q; 17:18238117-18238117	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1955G>A; p.R652Q; 17:18238117-18238117	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.104A>G; p.N35S; 17:18229963-18229963	thyroid	other; neoplasm	Substitution - Missense
c.598T>G; p.S200A; 17:18234059-18234059	skin	malignant_melanoma	Substitution - Missense
c.850+1G>A; p.?; 17:18234409-18234409	skin	malignant_melanoma	Unknown
c.3172G>A; p.A1058T; 17:18242798-18242798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1657A>G; p.S553G; 17:18237526-18237526	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1054G>A; p.E352K; 17:18234987-18234987	skin	malignant_melanoma	Substitution - Missense
c.2171G>A; p.R724H; 17:18238574-18238574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.911A>G; p.H304R; 17:18234844-18234844	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2745C>T; p.C915C; 17:18241693-18241693	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1296C>G; p.I432M; 17:18235481-18235481	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513T>A; p.C505S; 17:18236841-18236841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2650C>T; p.L884L; 17:18241598-18241598	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2947C>A; p.P983T; 17:18242230-18242230	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1800T>A; p.A600A; 17:18237669-18237669	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.218G>A; p.R73Q; 17:18232533-18232533	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1107G>T; p.L369L; 17:18235135-18235135	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2371G>T; p.V791L; 17:18240742-18240742	liver	carcinoma	Substitution - Missense
c.2371G>T; p.V791L; 17:18240742-18240742	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2345T>G; p.V782G; 17:18240716-18240716	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1566C>G; p.L522L; 17:18236894-18236894	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1566C>G; p.L522L; 17:18236894-18236894	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1565T>C; p.L522P; 17:18236893-18236893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2345T>G; p.V782G; 17:18240716-18240716	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1299_1300insG; p.R436fs*18; 17:18235484-18235485	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3155C>A; p.A1052E; 17:18242781-18242781	breast	carcinoma	Substitution - Missense
c.1293C>T; p.P431P; 17:18235478-18235478	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2708G>A; p.C903Y; 17:18241656-18241656	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2835G>T; p.P945P; 17:18241952-18241952	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2298T>C; p.G766G; 17:18240669-18240669	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1778T>C; p.V593A; 17:18237647-18237647	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1437C>T; p.F479F; 17:18236691-18236691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232G>A; p.R411H; 17:18235260-18235260	breast	carcinoma	Substitution - Missense
c.280C>A; p.L94I; 17:18232690-18232690	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1805C>T; p.T602I; 17:18237674-18237674	skin	malignant_melanoma	Substitution - Missense
c.2286A>G; p.A762A; 17:18240657-18240657	skin	malignant_melanoma	Substitution - coding silent
c.2756G>A; p.R919H; 17:18241704-18241704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.230C>G; p.T77S; 17:18232545-18232545	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation