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	4552
Symbol	MTRR
Synonymous	MSR\|cblE
Full name	5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Gene description	[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)\|methionine synthase reductase\|methionine synthase reductase, mitochondrial
Cytoband	5p15.31
Gene type	protein-coding
Synonymous	MIM:602568; HGNC:HGNC:7473; Ensembl:ENSG00000124275; HPRD:03979; Vega:OTTHUMG00000090477

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1834A>T; p.R612W; 5:7896940-7896940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.F223F; 5:7878130-7878130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.370G>T; p.G124C; 5:7875263-7875263	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.715G>A; p.V239M; 5:7878176-7878176	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1639A>G; p.I547V; 5:7895734-7895734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.1936G>A; p.E646K; 5:7897150-7897150	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1100G>T; p.C367F; 5:7885816-7885816	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1908C>T; p.F636F; 5:7897122-7897122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1353G>T; p.L451F; 5:7889220-7889220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655G>A; p.R552Q; 5:7895750-7895750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1238G>T; p.R413L; 5:7889105-7889105	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2049G>A; p.M683I; 5:7899929-7899929	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1075C>T; p.Q359*; 5:7885791-7885791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8C>G; p.A3G; 5:7869141-7869141	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1065C>T; p.L355L; 5:7885781-7885781	pancreas	carcinoma	Substitution - coding silent
c.1166C>T; p.A389V; 5:7886642-7886642	pancreas	carcinoma	Substitution - Missense
c.84G>A; p.M28I; 5:7870797-7870797	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1185C>T; p.F395F; 5:7886661-7886661	breast	carcinoma	Substitution - coding silent
c.532A>G; p.R178G; 5:7877993-7877993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1664A>C; p.N555T; 5:7895759-7895759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1115T>G; p.I372R; 5:7885831-7885831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1509G>T; p.L503L; 5:7892784-7892784	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.469G>T; p.D157Y; 5:7875362-7875362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1732C>T; p.P578S; 5:7895827-7895827	skin	malignant_melanoma	Substitution - Missense
c.225C>T; p.T75T; 5:7873387-7873387	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.102A>G; p.L34L; 5:7870815-7870815	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1978G>T; p.G660C; 5:7897192-7897192	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.102A>G; p.L34L; 5:7870815-7870815	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1557G>T; p.W519C; 5:7892832-7892832	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2132C>T; p.A711V; 5:7900012-7900012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1991C>T; p.A664V; 5:7897205-7897205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1604C>T; p.S535F; 5:7892879-7892879	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1331T>C; p.V444A; 5:7889198-7889198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.43G>A; p.V15I; 5:7869176-7869176	oesophagus	carcinoma	Substitution - Missense
c.628G>T; p.E210*; 5:7878089-7878089	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1633C>T; p.P545S; 5:7892908-7892908	skin	malignant_melanoma	Substitution - Missense
c.294G>C; p.K98N; 5:7873456-7873456	skin	malignant_melanoma	Substitution - Missense
c.1701C>T; p.I567I; 5:7895796-7895796	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1924G>T; p.V642F; 5:7897138-7897138	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.205G>A; p.D69N; 5:7870918-7870918	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.219delA; p.T75fs*63; 5:7873381-7873381	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.605C>T; p.S202L; 5:7878066-7878066	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1992G>A; p.A664A; 5:7897206-7897206	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1992G>A; p.A664A; 5:7897206-7897206	thyroid	other; neoplasm	Substitution - coding silent
c.504G>A; p.P168P; 5:7877965-7877965	breast	carcinoma	Substitution - coding silent
c.1451G>T; p.S484I; 5:7891414-7891414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>T; p.S484I; 5:7891414-7891414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>T; p.S484I; 5:7891414-7891414	large_intestine; colon	carcinoma	Substitution - Missense
c.1451G>T; p.S484I; 5:7891414-7891414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1509G>A; p.L503L; 5:7892784-7892784	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.910C>T; p.P304S; 5:7883203-7883203	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1315G>A; p.D439N; 5:7889182-7889182	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1315G>A; p.D439N; 5:7889182-7889182	prostate	carcinoma	Substitution - Missense
c.1540G>A; p.G514R; 5:7892815-7892815	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1309G>A; p.A437T; 5:7889176-7889176	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.579A>G; p.A193A; 5:7878040-7878040	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.697G>T; p.V233F; 5:7878158-7878158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>T; p.L370F; 5:7885826-7885826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.483-3C>G; p.?; 5:7877941-7877941	liver	carcinoma	Unknown
c.483-3C>G; p.?; 5:7877941-7877941	liver	carcinoma	Unknown
c.1104_1105CC>TT; p.L369F; 5:7885820-7885821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168T>C; p.I723T; 5:7900048-7900048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1732C>G; p.P578A; 5:7895827-7895827	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1472G>A; p.G491E; 5:7892747-7892747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1442C>T; p.S481L; 5:7891405-7891405	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1442C>T; p.S481L; 5:7891405-7891405	skin	malignant_melanoma	Substitution - Missense
c.1231T>C; p.F411L; 5:7889098-7889098	oesophagus	carcinoma	Substitution - Missense
c.770G>A; p.R257H; 5:7878231-7878231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1207A>G; p.I403V; 5:7886683-7886683	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.740T>C; p.V247A; 5:7878201-7878201	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1910C>T; p.S637L; 5:7897124-7897124	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1264A>G; p.S422G; 5:7889131-7889131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1933G>T; p.E645*; 5:7897147-7897147	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.211-1G>T; p.?; 5:7873372-7873372	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1512T>G; p.S504S; 5:7892787-7892787	breast	carcinoma	Substitution - coding silent
c.583C>T; p.P195S; 5:7878044-7878044	skin	malignant_melanoma	Substitution - Missense
c.1231delT; p.L412fs*157; 5:7889098-7889098	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1988T>G; p.V663G; 5:7897202-7897202	breast	carcinoma	Substitution - Missense
c.1689C>A; p.P563P; 5:7895784-7895784	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2143G>A; p.E715K; 5:7900023-7900023	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.709A>T; p.N237Y; 5:7878170-7878170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1836G>T; p.R612S; 5:7896942-7896942	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1679C>T; p.P560L; 5:7895774-7895774	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.478G>A; p.V160I; 5:7875371-7875371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2151A>G; p.K717K; 5:7900031-7900031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1850+5T>A; p.?; 5:7896961-7896961	NS	NS	Unknown
c.759C>T; p.S253S; 5:7878220-7878220	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.386C>A; p.T129N; 5:7875279-7875279	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571A>C; p.S191R; 5:7878032-7878032	breast	carcinoma	Substitution - Missense
c.1169G>T; p.G390V; 5:7886645-7886645	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1451+2T>C; p.?; 5:7891416-7891416	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.683G>A; p.R228K; 5:7878144-7878144	urinary_tract; bladder	carcinoma	Substitution - Missense
c.568A>G; p.I190V; 5:7878029-7878029	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.371G>A; p.G124D; 5:7875264-7875264	central_nervous_system; brain	glioma	Substitution - Missense
c.371G>A; p.G124D; 5:7875264-7875264	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.670G>C; p.D224H; 5:7878131-7878131	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1904C>T; p.S635F; 5:7897118-7897118	skin	malignant_melanoma	Substitution - Missense
c.18G>T; p.V6V; 5:7869151-7869151	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.58T>C; p.F20L; 5:7870771-7870771	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>G; p.L428V; 5:7889149-7889149	breast	carcinoma	Substitution - Missense
c.630G>T; p.E210D; 5:7878091-7878091	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.817C>T; p.P273S; 5:7878278-7878278	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2163G>C; p.Q721H; 5:7900043-7900043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720A>C; p.T574P; 5:7895815-7895815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506G>T; p.W169L; 5:7877967-7877967	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.142G>T; p.E48*; 5:7870855-7870855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1784A>G; p.D595G; 5:7896890-7896890	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1863A>T; p.R621S; 5:7897077-7897077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1849A>T; p.R617*; 5:7896955-7896955	liver	carcinoma	Substitution - Nonsense
c.1667C>G; p.S556C; 5:7895762-7895762	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1849A>T; p.R617*; 5:7896955-7896955	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1511C>T; p.S504F; 5:7892786-7892786	prostate	carcinoma	Substitution - Missense
c.1524A>C; p.T508T; 5:7892799-7892799	breast	carcinoma	Substitution - coding silent
c.1796G>T; p.G599V; 5:7896902-7896902	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.D152N; 5:7875347-7875347	prostate	carcinoma	Substitution - Missense
c.1409-2A>G; p.?; 5:7891370-7891370	ovary	carcinoma; serous_carcinoma	Unknown
c.2152C>T; p.R718C; 5:7900032-7900032	oesophagus	carcinoma	Substitution - Missense
c.904C>G; p.Q302E; 5:7883197-7883197	breast	carcinoma	Substitution - Missense
c.1436C>T; p.P479L; 5:7891399-7891399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.777A>C; p.V259V; 5:7878238-7878238	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.280G>A; p.D94N; 5:7873442-7873442	urinary_tract; bladder	carcinoma	Substitution - Missense
c.280G>A; p.D94N; 5:7873442-7873442	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2110C>T; p.L704L; 5:7899990-7899990	skin	malignant_melanoma	Substitution - coding silent
c.84G>T; p.M28I; 5:7870797-7870797	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1382G>A; p.C461Y; 5:7889249-7889249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.84G>T; p.M28I; 5:7870797-7870797	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.326C>T; p.P109L; 5:7873488-7873488	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.870C>A; p.S290R; 5:7883163-7883163	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.870C>A; p.S290R; 5:7883163-7883163	liver	carcinoma	Substitution - Missense
c.870C>A; p.S290R; 5:7883163-7883163	liver	carcinoma	Substitution - Missense
c.460G>A; p.G154R; 5:7875353-7875353	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.G122S; 5:7873526-7873526	skin	malignant_melanoma	Substitution - Missense
c.841C>A; p.L281M; 5:7878302-7878302	ovary	other; neoplasm	Substitution - Missense
c.1417C>T; p.P473S; 5:7891380-7891380	skin	malignant_melanoma	Substitution - Missense
c.1535G>A; p.R512Q; 5:7892810-7892810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1724G>T; p.G575V; 5:7895819-7895819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.570A>G; p.I190M; 5:7878031-7878031	skin	malignant_melanoma	Substitution - Missense
c.1316A>G; p.D439G; 5:7889183-7889183	liver	carcinoma	Substitution - Missense
c.1552G>T; p.G518C; 5:7892827-7892827	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.268G>A; p.G90R; 5:7873430-7873430	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1110_1111GA>AT; p.K371*; 5:7885826-7885827	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.576C>T; p.G192G; 5:7878037-7878037	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.938C>G; p.T313R; 5:7883231-7883231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>G; p.S306*; 5:7883210-7883210	breast	carcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation