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	2030
Symbol	SLC29A1
Synonymous	ENT1
Full name	solute carrier family 29 (equilibrative nucleoside transporter), member 1
Gene description	equilibrative NBMPR-sensitive nucleoside transporter\|equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter\|equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter\|equilibrative nucleoside trans
Cytoband	6p21.1
Gene type	protein-coding
Synonymous	MIM:602193; HGNC:HGNC:11003; Ensembl:ENSG00000112759; HPRD:03724; Vega:OTTHUMG00000014759

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.125G>A; p.R42H; 6:44229602-44229602	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.732G>A; p.G244G; 6:44230855-44230855	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.137C>T; p.S46F; 6:44229614-44229614	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.520G>C; p.A174P; 6:44230412-44230412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.859A>G; p.K287E; 6:44231456-44231456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.177C>T; p.D59D; 6:44229654-44229654	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1291G>T; p.G431*; 6:44233448-44233448	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.523C>T; p.P175S; 6:44230415-44230415	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.P175S; 6:44230415-44230415	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.40G>C; p.V14L; 6:44229400-44229400	urinary_tract; bladder	carcinoma	Substitution - Missense
c.303C>T; p.F101F; 6:44229780-44229780	thyroid	carcinoma	Substitution - coding silent
c.319C>T; p.P107S; 6:44229911-44229911	skin	malignant_melanoma	Substitution - Missense
c.332G>A; p.R111Q; 6:44229924-44229924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.875T>C; p.L292P; 6:44232008-44232008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.927C>T; p.A309A; 6:44232060-44232060	skin; nipple	malignant_melanoma	Substitution - coding silent
c.1046C>T; p.A349V; 6:44232415-44232415	skin; trunk	malignant_melanoma	Substitution - Missense
c.130G>C; p.D44H; 6:44229607-44229607	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793G>T; p.E265*; 6:44231390-44231390	skin	malignant_melanoma	Substitution - Nonsense
c.1364T>C; p.I455T; 6:44233521-44233521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.723A>G; p.E241E; 6:44230846-44230846	skin	malignant_melanoma	Substitution - coding silent
c.111+1G>A; p.?; 6:44229472-44229472	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.417C>T; p.F139F; 6:44230009-44230009	pancreas	carcinoma	Substitution - coding silent
c.879T>C; p.A293A; 6:44232012-44232012	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.879T>C; p.A293A; 6:44232012-44232012	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.879T>C; p.A293A; 6:44232012-44232012	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.155T>A; p.V52D; 6:44229632-44229632	skin	malignant_melanoma	Substitution - Missense
c.1251C>T; p.F417F; 6:44232998-44232998	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.299C>A; p.S100Y; 6:44229776-44229776	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.954C>T; p.I318I; 6:44232087-44232087	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1109T>G; p.V370G; 6:44232856-44232856	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.158C>T; p.T53I; 6:44229635-44229635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.75_77delGCT; p.L27delL; 6:44229435-44229437	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1059+1G>A; p.?; 6:44232429-44232429	lung	carcinoma; adenocarcinoma	Unknown
c.263C>T; p.A88V; 6:44229740-44229740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.793G>A; p.E265K; 6:44231390-44231390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.178G>A; p.A60T; 6:44229655-44229655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1167C>G; p.V389V; 6:44232914-44232914	breast	carcinoma	Substitution - coding silent
c.23A>T; p.Q8L; 6:44227336-44227336	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1365T>C; p.I455I; 6:44233522-44233522	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1255C>T; p.P419S; 6:44233002-44233002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>C; p.A411P; 6:44232978-44232978	urinary_tract; bladder	carcinoma	Substitution - Missense
c.799G>C; p.G267R; 6:44231396-44231396	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>C; p.A411P; 6:44232978-44232978	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1229T>C; p.L410P; 6:44232976-44232976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1229T>C; p.L410P; 6:44232976-44232976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.495T>C; p.A165A; 6:44230387-44230387	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1229T>C; p.L410P; 6:44232976-44232976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1363A>G; p.I455V; 6:44233520-44233520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228H; 6:44230661-44230661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.864+1G>C; p.?; 6:44231462-44231462	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1352T>C; p.L451P; 6:44233509-44233509	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.138C>T; p.S46S; 6:44229615-44229615	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.564C>T; p.S188S; 6:44230456-44230456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.96C>T; p.F32F; 6:44229456-44229456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.96C>T; p.F32F; 6:44229456-44229456	skin	malignant_melanoma	Substitution - coding silent
c.96C>T; p.F32F; 6:44229456-44229456	skin	malignant_melanoma	Substitution - coding silent
c.754C>T; p.L252F; 6:44230877-44230877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.314+1G>A; p.?; 6:44229792-44229792	pancreas	carcinoma	Unknown
c.693C>T; p.F231F; 6:44230816-44230816	skin	malignant_melanoma	Substitution - coding silent
c.877G>A; p.A293T; 6:44232010-44232010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>C; p.Q47H; 6:44229618-44229618	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.112T>C; p.Y38H; 6:44229589-44229589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.F298F; 6:44232027-44232027	skin	malignant_melanoma	Substitution - coding silent
c.1346C>T; p.S449F; 6:44233503-44233503	skin	malignant_melanoma	Substitution - Missense
c.393G>A; p.K131K; 6:44229985-44229985	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1151G>A; p.R384H; 6:44232898-44232898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1229_1231delTCG; p.L410_A411>P; 6:44232976-44232978	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Complex - deletion inframe
c.124C>T; p.R42C; 6:44229601-44229601	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.309T>C; p.H103H; 6:44229786-44229786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1197C>T; p.F399F; 6:44232944-44232944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1264G>C; p.V422L; 6:44233421-44233421	urinary_tract; bladder	carcinoma	Substitution - Missense
c.122A>G; p.N41S; 6:44229599-44229599	skin	malignant_melanoma	Substitution - Missense
c.879T>G; p.A293A; 6:44232012-44232012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.108T>G; p.T36T; 6:44229468-44229468	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.105C>T; p.A35A; 6:44229465-44229465	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.326C>T; p.S109F; 6:44229918-44229918	skin	malignant_melanoma	Substitution - Missense
c.34A>T; p.K12*; 6:44229394-44229394	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.871G>A; p.V291I; 6:44232004-44232004	skin	malignant_melanoma	Substitution - Missense
c.708G>A; p.Q236Q; 6:44230831-44230831	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.435C>A; p.I145I; 6:44230027-44230027	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1190T>A; p.I397N; 6:44232937-44232937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.573G>T; p.M191I; 6:44230465-44230465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.682C>T; p.R228C; 6:44230660-44230660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation