Entrez Gene

Basic Information
Gene ID	2990
Name	GUSB
Synonymous	glucuronidase, beta;GUSB;glucuronidase, beta
Definition	beta-D-glucuronidase\|beta-G1\|beta-glucuronidase
Position	7q21.11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1501T>G; p.L501V; 7:65967883-65967883	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1501T>G; p.L501V; 7:65967883-65967883	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1894G>T; p.E632*; 7:65960959-65960959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.413A>G; p.D138G; 7:65979895-65979895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.959A>G; p.Y320C; 7:65975025-65975025	breast	carcinoma	Substitution - Missense
c.722G>T; p.S241I; 7:65979401-65979401	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.51G>C; p.W17C; 7:65982133-65982133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1723C>T; p.Q575*; 7:65964389-65964389	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.753G>A; p.K251K; 7:65976174-65976174	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1740C>T; p.Y580Y; 7:65964372-65964372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1740C>T; p.Y580Y; 7:65964372-65964372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.14C>G; p.S5W; 7:65982170-65982170	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1741G>A; p.V581M; 7:65964371-65964371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.627C>T; p.F209F; 7:65979496-65979496	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.627C>T; p.F209F; 7:65979496-65979496	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1143C>T; p.F381F; 7:65974627-65974627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1750G>T; p.E584*; 7:65964362-65964362	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.935C>T; p.S312L; 7:65975049-65975049	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1796C>T; p.T599M; 7:65961057-65961057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142C>A; p.R48S; 7:65982042-65982042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1180C>T; p.Q394*; 7:65974590-65974590	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1138G>A; p.A380T; 7:65974632-65974632	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.534_535insC; p.T179fs*13; 7:65979773-65979774	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1874G>A; p.R625K; 7:65960979-65960979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070G>T; p.R357L; 7:65974700-65974700	prostate	adenoma	Substitution - Missense
c.1239G>A; p.A413A; 7:65974531-65974531	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.288C>T; p.V96V; 7:65980332-65980332	thyroid	other; neoplasm	Substitution - coding silent
c.811G>T; p.A271S; 7:65976116-65976116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>A; p.R327H; 7:65975004-65975004	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.R165R; 7:65979813-65979813	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070G>A; p.R357Q; 7:65974700-65974700	breast	carcinoma	Substitution - Missense
c.813G>A; p.A271A; 7:65976114-65976114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.813G>A; p.A271A; 7:65976114-65976114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145G>A; p.R382H; 7:65974625-65974625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1440C>T; p.T480T; 7:65970318-65970318	skin	malignant_melanoma	Substitution - coding silent
c.661T>C; p.Y221H; 7:65979462-65979462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1857G>A; p.A619A; 7:65960996-65960996	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.776A>G; p.E259G; 7:65976151-65976151	skin; extremity	malignant_melanoma	Substitution - Missense
c.1281G>A; p.M427I; 7:65974405-65974405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1444G>A; p.V482M; 7:65970314-65970314	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1139C>T; p.A380V; 7:65974631-65974631	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1289T>G; p.M430R; 7:65974397-65974397	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1104G>A; p.K368K; 7:65974666-65974666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.238C>T; p.P80S; 7:65980382-65980382	skin	malignant_melanoma	Substitution - Missense
c.238C>T; p.P80S; 7:65980382-65980382	skin	malignant_melanoma	Substitution - Missense
c.238C>T; p.P80S; 7:65980382-65980382	skin	malignant_melanoma	Substitution - Missense
c.1571A>T; p.Q524L; 7:65967813-65967813	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.915G>A; p.V305V; 7:65975069-65975069	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1884G>A; p.K628K; 7:65960969-65960969	liver	carcinoma	Substitution - coding silent
c.223G>A; p.V75M; 7:65980397-65980397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.223G>A; p.V75M; 7:65980397-65980397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1849delA; p.S617fs*23; 7:65961004-65961004	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.283T>G; p.F95V; 7:65980337-65980337	thyroid	other; neoplasm	Substitution - Missense
c.1820G>T; p.G607V; 7:65961033-65961033	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.301T>C; p.Y101H; 7:65980319-65980319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1159C>T; p.P387S; 7:65974611-65974611	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1152C>T; p.S384S; 7:65974618-65974618	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.482C>G; p.P161R; 7:65979826-65979826	liver	carcinoma	Substitution - Missense
c.482C>G; p.P161R; 7:65979826-65979826	liver	carcinoma	Substitution - Missense
c.640C>T; p.L214L; 7:65979483-65979483	skin	malignant_melanoma	Substitution - coding silent
c.782G>A; p.R261H; 7:65976145-65976145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.847C>T; p.P283S; 7:65976080-65976080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.142C>T; p.R48C; 7:65982042-65982042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1806G>C; p.L602L; 7:65961047-65961047	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.622T>C; p.F208L; 7:65979501-65979501	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>T; p.L287F; 7:65976068-65976068	skin	malignant_melanoma	Substitution - Missense
c.411C>T; p.V137V; 7:65979897-65979897	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.327G>A; p.E109E; 7:65980293-65980293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1646T>C; p.F549S; 7:65967738-65967738	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1009C>A; p.L337I; 7:65974975-65974975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1892A>C; p.N631T; 7:65960961-65960961	liver	carcinoma	Substitution - Missense
c.1468G>T; p.D490Y; 7:65970290-65970290	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1144C>T; p.R382C; 7:65974626-65974626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.222C>T; p.T74T; 7:65980398-65980398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.499C>T; p.R167*; 7:65979809-65979809	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1576G>C; p.E526Q; 7:65967808-65967808	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.H425Y; 7:65974413-65974413	skin	malignant_melanoma	Substitution - Missense
c.286G>A; p.V96I; 7:65980334-65980334	breast	carcinoma	Substitution - Missense
c.286G>A; p.V96I; 7:65980334-65980334	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286G>A; p.V96I; 7:65980334-65980334	thyroid	other; neoplasm	Substitution - Missense
c.564C>A; p.Y188*; 7:65979744-65979744	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1091C>T; p.P364L; 7:65974679-65974679	ovary	other; neoplasm	Substitution - Missense
c.794C>T; p.A265V; 7:65976133-65976133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1534G>A; p.G512R; 7:65967850-65967850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.V269V; 7:65976120-65976120	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1793C>T; p.P598L; 7:65961060-65961060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1253T>G; p.F418C; 7:65974433-65974433	prostate	adenoma	Substitution - Missense
c.398G>T; p.W133L; 7:65979910-65979910	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.397T>G; p.W133G; 7:65979911-65979911	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.598T>G; p.F200V; 7:65979525-65979525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.632A>C; p.Y211S; 7:65979491-65979491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.D510N; 7:65967856-65967856	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1205T>C; p.V402A; 7:65974565-65974565	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.417G>A; p.T139T; 7:65979891-65979891	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.653T>C; p.V218A; 7:65979470-65979470	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1527C>T; p.H509H; 7:65967857-65967857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1160C>T; p.P387L; 7:65974610-65974610	skin	malignant_melanoma	Substitution - Missense
c.1498T>C; p.C500R; 7:65967886-65967886	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1498T>C; p.C500R; 7:65967886-65967886	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1487T>C; p.V496A; 7:65967897-65967897	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1476+1delG; p.?; 7:65970281-65970281	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.450G>A; p.E150E; 7:65979858-65979858	skin	malignant_melanoma	Substitution - coding silent
c.869C>T; p.P290L; 7:65976058-65976058	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.273T>C; p.R91R; 7:65980347-65980347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.950C>T; p.S317F; 7:65975034-65975034	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1163A>G; p.Y388C; 7:65974607-65974607	breast	carcinoma	Substitution - Missense
c.285T>G; p.F95L; 7:65980335-65980335	thyroid	other; neoplasm	Substitution - Missense
c.500G>A; p.R167Q; 7:65979808-65979808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.627C>G; p.F209L; 7:65979496-65979496	breast	carcinoma	Substitution - Missense
c.453C>T; p.A151A; 7:65979855-65979855	skin	malignant_melanoma	Substitution - coding silent
c.1480C>T; p.P494S; 7:65967904-65967904	ovary	carcinoma; serous_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]