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	9927
Symbol	MFN2
Synonymous	CMT2A\|CMT2A2\|CPRP1\|HSG\|MARF
Full name	mitofusin 2
Gene description	hyperplasia suppressor\|mitochondrial assembly regulatory factor\|mitofusin-2\|transmembrane GTPase MFN2
Cytoband	1p36.22
Gene type	protein-coding
Synonymous	MIM:608507; HGNC:HGNC:16877; Ensembl:ENSG00000116688; HPRD:08495; Vega:OTTHUMG00000002392

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.586G>A; p.V196I; 1:11997408-11997408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1296T>C; p.T432T; 1:12004517-12004517	breast	carcinoma	Substitution - coding silent
c.776G>A; p.R259H; 1:11999055-11999055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2169T>C; p.V723V; 1:12009691-12009691	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1739C>T; p.T580M; 1:12006560-12006560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.450delC; p.S151fs*10; 1:11996294-11996294	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2187C>G; p.S729R; 1:12009709-12009709	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1764A>C; p.P588P; 1:12006585-12006585	breast	carcinoma	Substitution - coding silent
c.881G>T; p.R294L; 1:12001465-12001465	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.930C>G; p.L310L; 1:12001514-12001514	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1151G>A; p.R384Q; 1:12002094-12002094	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1877G>T; p.W626L; 1:12007057-12007057	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1180C>T; p.R394C; 1:12004011-12004011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1719C>T; p.V573V; 1:12006540-12006540	liver	carcinoma	Substitution - coding silent
c.1719C>T; p.V573V; 1:12006540-12006540	liver	carcinoma	Substitution - coding silent
c.626T>C; p.L209P; 1:11998796-11998796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1626G>A; p.E542E; 1:12005841-12005841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>T; p.H174Y; 1:11997342-11997342	skin	malignant_melanoma	Substitution - Missense
c.520C>T; p.H174Y; 1:11997342-11997342	skin	malignant_melanoma	Substitution - Missense
c.2000A>C; p.E667A; 1:12007180-12007180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1306G>A; p.E436K; 1:12004527-12004527	skin	malignant_melanoma	Substitution - Missense
c.1306G>A; p.E436K; 1:12004527-12004527	skin	malignant_melanoma	Substitution - Missense
c.1351G>T; p.D451Y; 1:12004572-12004572	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1988G>A; p.R663H; 1:12007168-12007168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.A371V; 1:12002055-12002055	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.597C>T; p.D199D; 1:11997419-11997419	skin	malignant_melanoma	Substitution - coding silent
c.1690C>T; p.R564W; 1:12005905-12005905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481A>G; p.N161D; 1:11997303-11997303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.839G>A; p.R280H; 1:12001423-12001423	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1690C>T; p.R564W; 1:12005905-12005905	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2187C>T; p.S729S; 1:12009709-12009709	kidney	other; neoplasm	Substitution - coding silent
c.839G>A; p.R280H; 1:12001423-12001423	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2202C>T; p.L734L; 1:12009724-12009724	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.880C>T; p.R294*; 1:12001464-12001464	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1894C>T; p.R632W; 1:12007074-12007074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.470C>T; p.A157V; 1:11996314-11996314	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.913T>C; p.S305P; 1:12001497-12001497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.236A>G; p.K79R; 1:11992615-11992615	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.L745L; 1:12011526-12011526	central_nervous_system; brain	glioma	Substitution - coding silent
c.2215G>A; p.G739S; 1:12011506-12011506	pancreas	other; adenoma	Substitution - Missense
c.349C>A; p.L117I; 1:11996193-11996193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2129T>C; p.L710P; 1:12009651-12009651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.515A>G; p.Q172R; 1:11997337-11997337	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.269A>G; p.E90G; 1:11992648-11992648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1691G>A; p.R564Q; 1:12005906-12005906	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1691G>A; p.R564Q; 1:12005906-12005906	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>G; p.Y61*; 1:11992562-11992562	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1055C>A; p.S352Y; 1:12001998-12001998	breast	carcinoma	Substitution - Missense
c.811G>T; p.E271*; 1:11999090-11999090	liver	carcinoma	Substitution - Nonsense
c.1568C>T; p.S523F; 1:12005783-12005783	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1541A>G; p.D514G; 1:12005756-12005756	skin	malignant_melanoma	Substitution - Missense
c.263T>G; p.I88S; 1:11992642-11992642	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.263T>G; p.I88S; 1:11992642-11992642	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.604G>T; p.G202C; 1:11998774-11998774	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1189C>T; p.R397W; 1:12004020-12004020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1787_1789delAGG; p.E598delE; 1:12006608-12006610	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.803A>C; p.E268A; 1:11999082-11999082	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.886C>T; p.Q296*; 1:12001470-12001470	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1252C>T; p.R418*; 1:12004083-12004083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1516C>T; p.P506S; 1:12005731-12005731	liver	carcinoma	Substitution - Missense
c.1516C>T; p.P506S; 1:12005731-12005731	liver	carcinoma	Substitution - Missense
c.1089C>T; p.V363V; 1:12002032-12002032	skin	malignant_melanoma	Substitution - coding silent
c.960G>A; p.M320I; 1:12001544-12001544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1960A>C; p.T654P; 1:12007140-12007140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.219A>G; p.E73E; 1:11992598-11992598	prostate	carcinoma	Substitution - coding silent
c.1960A>C; p.T654P; 1:12007140-12007140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1085C>G; p.T362R; 1:12002028-12002028	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.661G>A; p.D221N; 1:11998831-11998831	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1150C>G; p.R384G; 1:12002093-12002093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1208T>C; p.F403S; 1:12004039-12004039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.R373*; 1:12002060-12002060	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1618G>C; p.D540H; 1:12005833-12005833	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1618G>C; p.D540H; 1:12005833-12005833	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>A; p.M270I; 1:11999089-11999089	liver	carcinoma	Substitution - Missense
c.308G>T; p.G103V; 1:11992687-11992687	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.20G>T; p.R7L; 1:11989188-11989188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>T; p.A317S; 1:12001533-12001533	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1402C>T; p.R468C; 1:12004834-12004834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528C>T; p.R510W; 1:12005743-12005743	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051G>A; p.C684Y; 1:12007231-12007231	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.970+9G>T; p.?; 1:12001563-12001563	ovary	other; neoplasm	Unknown
c.300delT; p.F102fs*11; 1:11992679-11992679	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2042G>A; p.G681D; 1:12007222-12007222	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.300delT; p.F102fs*11; 1:11992679-11992679	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2203A>C; p.R735R; 1:12009725-12009725	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.679G>A; p.A227T; 1:11998849-11998849	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1731C>T; p.I577I; 1:12006552-12006552	skin	malignant_melanoma	Substitution - coding silent
c.1534C>G; p.Q512E; 1:12005749-12005749	urinary_tract; bladder	carcinoma	Substitution - Missense
c.899G>A; p.R300H; 1:12001483-12001483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>A; p.S186Y; 1:11997379-11997379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.708+2T>A; p.?; 1:11998880-11998880	prostate	carcinoma; adenocarcinoma	Unknown
c.1556G>A; p.R519H; 1:12005771-12005771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1976G>T; p.R659M; 1:12007156-12007156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1267A>G; p.T423A; 1:12004098-12004098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1832C>T; p.T611I; 1:12006653-12006653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1924G>A; p.G642S; 1:12007104-12007104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.G127S; 1:11996223-11996223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1656G>T; p.L552L; 1:12005871-12005871	pancreas	carcinoma	Substitution - coding silent
c.1882G>A; p.A628T; 1:12007062-12007062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>A; p.R418Q; 1:12004084-12004084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.130G>C; p.E44Q; 1:11989298-11989298	breast	carcinoma	Substitution - Missense
c.1190G>A; p.R397Q; 1:12004021-12004021	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.232G>A; p.V78I; 1:11992611-11992611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1641C>T; p.L547L; 1:12005856-12005856	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1641C>T; p.L547L; 1:12005856-12005856	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.312-2A>G; p.?; 1:11996154-11996154	pancreas	carcinoma	Unknown
c.1526T>G; p.V509G; 1:12005741-12005741	thyroid	other; neoplasm	Substitution - Missense
c.564C>T; p.C188C; 1:11997386-11997386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.270G>A; p.E90E; 1:11992649-11992649	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.100A>G; p.T34A; 1:11989268-11989268	pancreas	carcinoma	Substitution - Missense
c.1936G>A; p.V646I; 1:12007116-12007116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1205A>C; p.K402T; 1:12004036-12004036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation