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	54658
Symbol	UGT1A1
Synonymous	BILIQTL1\|GNT1\|HUG-BR1\|UDPGT\|UDPGT 1-1\|UGT1\|UGT1A
Full name	UDP glucuronosyltransferase 1 family, polypeptide A1
Gene description	UDP glycosyltransferase 1 family, polypeptide A1\|UDP-glucuronosyltransferase 1-1\|UDP-glucuronosyltransferase 1-A\|UDP-glucuronosyltransferase 1A1\|UGT-1A\|UGT1*1\|UGT1-01\|UGT1.1\|bilirubin UDP-glucuronosyltransferase 1-1\|bilirubin UDP-glucuronosyltransferase i
Cytoband	2q37
Gene type	protein-coding
Synonymous	MIM:191740; HGNC:HGNC:12530; Ensembl:ENSG00000241635; HPRD:08933; Vega:OTTHUMG00000059117

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1156G>A; p.V386I; 2:233768291-233768291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.406C>G; p.L136V; 2:233760693-233760693	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1320C>T; p.I440I; 2:233772277-233772277	skin	malignant_melanoma	Substitution - coding silent
c.126C>T; p.S42S; 2:233760413-233760413	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.194C>A; p.S65*; 2:233760481-233760481	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.84G>A; p.G28G; 2:233760371-233760371	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1248G>A; p.L416L; 2:233768383-233768383	skin	malignant_melanoma	Substitution - coding silent
c.1558delA; p.R523fs*>11; 2:233772515-233772515	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1558delA; p.R523fs*>11; 2:233772515-233772515	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.773G>C; p.S258T; 2:233761060-233761060	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1545G>A; p.R515R; 2:233772502-233772502	skin	malignant_melanoma	Substitution - coding silent
c.1414C>T; p.P472S; 2:233772371-233772371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.513C>T; p.F171F; 2:233760800-233760800	breast	carcinoma	Substitution - coding silent
c.626G>T; p.R209L; 2:233760913-233760913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628G>T; p.V210L; 2:233760915-233760915	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.609C>A; p.H203Q; 2:233760896-233760896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1155C>T; p.G385G; 2:233768290-233768290	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.311C>A; p.S104Y; 2:233760598-233760598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1438G>A; p.D480N; 2:233772395-233772395	skin	malignant_melanoma	Substitution - Missense
c.1438G>A; p.D480N; 2:233772395-233772395	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1490C>T; p.A497V; 2:233772447-233772447	skin	malignant_melanoma	Substitution - Missense
c.1183G>T; p.G395C; 2:233768318-233768318	breast	carcinoma	Substitution - Missense
c.132T>C; p.L44L; 2:233760419-233760419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.505G>T; p.V169L; 2:233760792-233760792	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.670G>A; p.D224N; 2:233760957-233760957	pancreas	carcinoma	Substitution - Missense
c.1085G>T; p.G362V; 2:233768220-233768220	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.347T>A; p.I116K; 2:233760634-233760634	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.610A>G; p.M204V; 2:233760897-233760897	liver	carcinoma	Substitution - Missense
c.610A>G; p.M204V; 2:233760897-233760897	liver	carcinoma	Substitution - Missense
c.25C>T; p.R9C; 2:233760312-233760312	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.25C>T; p.R9C; 2:233760312-233760312	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.565C>A; p.P189T; 2:233760852-233760852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.307G>A; p.D103N; 2:233760594-233760594	skin; extremity	malignant_melanoma	Substitution - Missense
c.1276G>T; p.A426S; 2:233768411-233768411	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.P285S; 2:233761140-233761140	NS	malignant_melanoma	Substitution - Missense
c.89T>G; p.I30R; 2:233760376-233760376	liver	carcinoma	Substitution - Missense
c.968C>A; p.A323D; 2:233767137-233767137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199T>C; p.Y67H; 2:233760486-233760486	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.790T>C; p.Y264H; 2:233761077-233761077	liver	carcinoma	Substitution - Missense
c.988C>T; p.P330S; 2:233767157-233767157	skin	malignant_melanoma	Substitution - Missense
c.790T>C; p.Y264H; 2:233761077-233761077	liver	carcinoma	Substitution - Missense
c.441C>A; p.V147V; 2:233760728-233760728	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1558A>G; p.K520E; 2:233772515-233772515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1084+8delG; p.?; 2:233767944-233767944	thyroid	carcinoma; anaplastic_carcinoma	Unknown
c.1128T>A; p.H376Q; 2:233768263-233768263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1208G>A; p.R403H; 2:233768343-233768343	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>A; p.P229Q; 2:233760973-233760973	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>T; p.V193L; 2:233760864-233760864	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>A; p.P229Q; 2:233760973-233760973	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.910G>A; p.V304I; 2:233767079-233767079	skin	malignant_melanoma	Substitution - Missense
c.686C>A; p.P229Q; 2:233760973-233760973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.D151N; 2:233760738-233760738	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.249C>T; p.F83F; 2:233760536-233760536	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1074C>T; p.N358N; 2:233767926-233767926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1557G>A; p.G519G; 2:233772514-233772514	skin	malignant_melanoma	Substitution - coding silent
c.1543C>T; p.R515W; 2:233772500-233772500	prostate	adenoma	Substitution - Missense
c.1543C>T; p.R515W; 2:233772500-233772500	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 2:233767034-233767034	skin	malignant_melanoma	Substitution - Missense
c.1410C>G; p.G470G; 2:233772367-233772367	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.429C>A; p.S143R; 2:233760716-233760716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.26G>A; p.R9H; 2:233760313-233760313	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.449C>T; p.T150M; 2:233760736-233760736	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.997-1G>A; p.?; 2:233767848-233767848	stomach	carcinoma; adenocarcinoma	Unknown
c.433T>G; p.F145V; 2:233760720-233760720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433T>G; p.F145V; 2:233760720-233760720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1464C>A; p.S488S; 2:233772421-233772421	breast	carcinoma	Substitution - coding silent
c.211G>A; p.G71R; 2:233760498-233760498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.196T>G; p.L66V; 2:233760483-233760483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.80C>A; p.A27D; 2:233760367-233760367	breast	carcinoma	Substitution - Missense
c.964A>G; p.I322V; 2:233767133-233767133	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.341A>T; p.K114M; 2:233760628-233760628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.613A>C; p.T205P; 2:233760900-233760900	breast	carcinoma	Substitution - Missense
c.647C>T; p.A216V; 2:233760934-233760934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.14C>T; p.S5F; 2:233760301-233760301	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.468C>T; p.C156C; 2:233760755-233760755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1429G>A; p.A477T; 2:233772386-233772386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>T; p.D103Y; 2:233760594-233760594	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.272C>G; p.S91C; 2:233760559-233760559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1218T>C; p.T406T; 2:233768353-233768353	kidney	other; neoplasm	Substitution - coding silent
c.1029G>A; p.S343S; 2:233767881-233767881	skin	malignant_melanoma	Substitution - coding silent
c.648C>T; p.A216A; 2:233760935-233760935	skin	malignant_melanoma	Substitution - coding silent
c.1429G>T; p.A477S; 2:233772386-233772386	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.648C>T; p.A216A; 2:233760935-233760935	skin	malignant_melanoma	Substitution - coding silent
c.1325G>A; p.R442H; 2:233772282-233772282	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1470C>T; p.D490D; 2:233772427-233772427	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028C>T; p.S343L; 2:233767880-233767880	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1028C>T; p.S343L; 2:233767880-233767880	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1028C>T; p.S343L; 2:233767880-233767880	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.S343L; 2:233767880-233767880	skin	malignant_melanoma	Substitution - Missense
c.997-1G>C; p.?; 2:233767848-233767848	liver	carcinoma	Unknown
c.1276G>A; p.A426T; 2:233768411-233768411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>A; p.A64T; 2:233760477-233760477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1477G>T; p.G493C; 2:233772434-233772434	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.749C>G; p.S250C; 2:233761036-233761036	breast	carcinoma	Substitution - Missense
c.749C>G; p.S250C; 2:233761036-233761036	urinary_tract; bladder	carcinoma	Substitution - Missense
c.194C>T; p.S65L; 2:233760481-233760481	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1404C>T; p.H468H; 2:233772361-233772361	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.350A>C; p.K117T; 2:233760637-233760637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.573C>A; p.S191S; 2:233760860-233760860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1392T>C; p.F464F; 2:233772349-233772349	breast	carcinoma	Substitution - coding silent
c.711C>T; p.F237F; 2:233760998-233760998	NS	malignant_melanoma	Substitution - coding silent
c.1007G>A; p.R336Q; 2:233767859-233767859	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.711C>T; p.F237F; 2:233760998-233760998	NS	malignant_melanoma	Substitution - coding silent
c.1428C>T; p.P476P; 2:233772385-233772385	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.861C>T; p.S287S; 2:233761148-233761148	skin	malignant_melanoma	Substitution - coding silent
c.861C>T; p.S287S; 2:233761148-233761148	skin	malignant_melanoma	Substitution - coding silent
c.1154G>A; p.G385D; 2:233768289-233768289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.141C>T; p.I47I; 2:233760428-233760428	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.141C>T; p.I47I; 2:233760428-233760428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1477G>A; p.G493S; 2:233772434-233772434	skin	malignant_melanoma	Substitution - Missense
c.1471G>A; p.V491M; 2:233772428-233772428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.303G>T; p.E101D; 2:233760590-233760590	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1410C>T; p.G470G; 2:233772367-233772367	breast	carcinoma	Substitution - coding silent
c.1194G>A; p.M398I; 2:233768329-233768329	skin	malignant_melanoma	Substitution - Missense
c.704C>T; p.S235L; 2:233760991-233760991	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1047G>A; p.T349T; 2:233767899-233767899	skin	malignant_melanoma	Substitution - coding silent
c.1323G>A; p.M441I; 2:233772280-233772280	breast	carcinoma	Substitution - Missense
c.1038G>A; p.A346A; 2:233767890-233767890	breast	carcinoma	Substitution - coding silent
c.1038G>A; p.A346A; 2:233767890-233767890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.992A>C; p.Q331P; 2:233767161-233767161	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.R336W; 2:233767858-233767858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.70G>A; p.V24M; 2:233760357-233760357	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.766T>C; p.F256L; 2:233761053-233761053	thyroid	carcinoma	Substitution - Missense
c.177C>T; p.V59V; 2:233760464-233760464	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.676G>A; p.V226I; 2:233760963-233760963	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1249G>A; p.E417K; 2:233768384-233768384	skin; extremity	malignant_melanoma	Substitution - Missense
c.676G>A; p.V226I; 2:233760963-233760963	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>A; p.R108H; 2:233760610-233760610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1165G>A; p.V389M; 2:233768300-233768300	skin	malignant_melanoma	Substitution - Missense
c.879C>T; p.Y293Y; 2:233767048-233767048	liver	carcinoma	Substitution - coding silent
c.879C>T; p.Y293Y; 2:233767048-233767048	liver	carcinoma	Substitution - coding silent
c.1295A>G; p.N432S; 2:233768430-233768430	liver	carcinoma	Substitution - Missense
c.570C>A; p.F190L; 2:233760857-233760857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1411G>A; p.A471T; 2:233772368-233772368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.912_917delTTTCTC; p.F305_S306delFS; 2:233767081-233767086	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1492G>A; p.V498I; 2:233772449-233772449	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1492G>A; p.V498I; 2:233772449-233772449	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1443C>T; p.L481L; 2:233772400-233772400	breast	carcinoma	Substitution - coding silent
c.49C>T; p.L17L; 2:233760336-233760336	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1476T>C; p.I492I; 2:233772433-233772433	breast	carcinoma	Substitution - coding silent
c.286G>C; p.G96R; 2:233760573-233760573	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1100G>A; p.R367H; 2:233768235-233768235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1131T>C; p.G377G; 2:233768266-233768266	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1333A>G; p.S445G; 2:233772290-233772290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333A>G; p.S445G; 2:233772290-233772290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation