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	4175
Symbol	MCM6
Synonymous	MCG40308\|Mis5\|P105MCM
Full name	minichromosome maintenance complex component 6
Gene description	DNA replication licensing factor MCM6\|MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)\|minichromosome maintenance deficient (mis5, S. pombe) 6
Cytoband	2q21
Gene type	protein-coding
Synonymous	MIM:601806; HGNC:HGNC:6949; Ensembl:ENSG00000076003; HPRD:03485; Vega:OTTHUMG00000131739

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.686G>A; p.R229K; 2:135866658-135866658	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886A>T; p.E629V; 2:135851433-135851433	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1856G>A; p.R619Q; 2:135851463-135851463	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2083G>A; p.G695R; 2:135846363-135846363	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>A; p.G695R; 2:135846363-135846363	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1755+5C>G; p.?; 2:135852782-135852782	ovary	other; neoplasm	Unknown
c.1292C>T; p.A431V; 2:135859371-135859371	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1161A>T; p.R387R; 2:135862666-135862666	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1273A>G; p.S425G; 2:135859390-135859390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1196G>T; p.S399I; 2:135862631-135862631	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1483G>A; p.A495T; 2:135856871-135856871	liver	carcinoma	Substitution - Missense
c.753G>A; p.V251V; 2:135866591-135866591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1483G>A; p.A495T; 2:135856871-135856871	liver	carcinoma	Substitution - Missense
c.1110G>T; p.L370L; 2:135862717-135862717	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1048C>T; p.L350F; 2:135865043-135865043	NS	malignant_melanoma	Substitution - Missense
c.370C>T; p.R124*; 2:135868856-135868856	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1473T>A; p.A491A; 2:135856881-135856881	ovary	other; neoplasm	Substitution - coding silent
c.247T>C; p.F83L; 2:135872704-135872704	skin	malignant_melanoma	Substitution - Missense
c.1195A>C; p.S399R; 2:135862632-135862632	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.650G>T; p.R217L; 2:135866694-135866694	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.120C>T; p.S40S; 2:135872831-135872831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.326A>C; p.D109A; 2:135870290-135870290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2108_2109delTA; p.I703fs*16; 2:135846337-135846338	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1020G>C; p.M340I; 2:135865071-135865071	breast	carcinoma	Substitution - Missense
c.916A>C; p.T306P; 2:135866143-135866143	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1311A>T; p.E437D; 2:135859352-135859352	liver	carcinoma	Substitution - Missense
c.548C>T; p.P183L; 2:135868678-135868678	skin	malignant_melanoma	Substitution - Missense
c.56G>T; p.R19L; 2:135876310-135876310	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1866G>T; p.E622D; 2:135851453-135851453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470G>T; p.K490N; 2:135857897-135857897	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>T; p.G679C; 2:135848071-135848071	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658C; 2:135848134-135848134	skin	malignant_melanoma	Substitution - Missense
c.665G>A; p.R222H; 2:135866679-135866679	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>T; p.D194Y; 2:135868646-135868646	central_nervous_system; brain	glioma	Substitution - Missense
c.2171C>G; p.S724C; 2:135846275-135846275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2218G>A; p.E740K; 2:135844676-135844676	breast	carcinoma	Substitution - Missense
c.2249A>G; p.N750S; 2:135844645-135844645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1398C>T; p.D466D; 2:135857969-135857969	prostate	carcinoma	Substitution - coding silent
c.1268C>T; p.A423V; 2:135859395-135859395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950G>A; p.R650R; 2:135848156-135848156	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2210-8delT; p.?; 2:135844692-135844692	stomach	adenocarcinoma	Unknown
c.381C>T; p.T127T; 2:135868845-135868845	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1491G>C; p.T497T; 2:135856863-135856863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2304T>A; p.N768K; 2:135844590-135844590	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.637G>A; p.A213T; 2:135866707-135866707	skin	malignant_melanoma	Substitution - Missense
c.2169C>T; p.I723I; 2:135846277-135846277	skin	malignant_melanoma	Substitution - coding silent
c.1855C>T; p.R619*; 2:135851464-135851464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2011G>C; p.E671Q; 2:135848095-135848095	breast	carcinoma	Substitution - Missense
c.1095delA; p.K365fs*6; 2:135862732-135862732	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.427C>T; p.R143W; 2:135868799-135868799	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>G; p.A264G; 2:135866268-135866268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2165G>A; p.R722Q; 2:135846281-135846281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>T; p.A186V; 2:135868669-135868669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2217C>T; p.D739D; 2:135844677-135844677	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.196G>A; p.V66M; 2:135872755-135872755	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1288A>C; p.T430P; 2:135859375-135859375	liver	carcinoma	Substitution - Missense
c.1711G>T; p.D571Y; 2:135852831-135852831	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.233C>G; p.T78S; 2:135872718-135872718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.142C>T; p.Q48*; 2:135872809-135872809	pancreas	carcinoma	Substitution - Nonsense
c.276G>C; p.R92R; 2:135870340-135870340	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1652G>A; p.R551H; 2:135852890-135852890	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.300C>T; p.D100D; 2:135870316-135870316	skin	malignant_melanoma	Substitution - coding silent
c.1586G>A; p.R529Q; 2:135856768-135856768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1586G>A; p.R529Q; 2:135856768-135856768	skin	malignant_melanoma	Substitution - Missense
c.2312G>A; p.R771K; 2:135844582-135844582	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.912G>A; p.A304A; 2:135866147-135866147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1844G>A; p.R615K; 2:135851475-135851475	skin	malignant_melanoma	Substitution - Missense
c.912G>A; p.A304A; 2:135866147-135866147	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.547C>T; p.P183S; 2:135868679-135868679	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.759C>T; p.D253D; 2:135866585-135866585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.421G>T; p.V141L; 2:135868805-135868805	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.759C>T; p.D253D; 2:135866585-135866585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.759C>T; p.D253D; 2:135866585-135866585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2402G>A; p.G801E; 2:135840899-135840899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1870A>G; p.M624V; 2:135851449-135851449	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.52G>A; p.V18I; 2:135876314-135876314	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1908C>T; p.C636C; 2:135851411-135851411	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2465G>C; p.*822S; 2:135840836-135840836	breast	carcinoma	Nonstop extension
c.1218C>T; p.L406L; 2:135862609-135862609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2311delA; p.R771fs*3; 2:135844583-135844583	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1160G>A; p.R387Q; 2:135862667-135862667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1126G>A; p.V376I; 2:135862701-135862701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1126G>A; p.V376I; 2:135862701-135862701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1239C>T; p.S413S; 2:135859424-135859424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2079G>A; p.V693V; 2:135846367-135846367	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.656G>T; p.S219I; 2:135866688-135866688	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>T; p.S138I; 2:135868813-135868813	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2269G>A; p.E757K; 2:135844625-135844625	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>T; p.G42*; 2:135872827-135872827	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1017G>A; p.E339E; 2:135865074-135865074	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2302A>C; p.N768H; 2:135844592-135844592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.639T>A; p.A213A; 2:135866705-135866705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1180A>G; p.I394V; 2:135862647-135862647	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1152C>T; p.T384T; 2:135862675-135862675	skin	malignant_melanoma	Substitution - coding silent
c.1693C>T; p.R565C; 2:135852849-135852849	skin	malignant_melanoma	Substitution - Missense
c.1626G>T; p.E542D; 2:135856728-135856728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.944T>G; p.L315R; 2:135865147-135865147	liver	carcinoma	Substitution - Missense
c.781+10C>T; p.?; 2:135866553-135866553	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.407G>A; p.R136H; 2:135868819-135868819	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.781+10C>T; p.?; 2:135866553-135866553	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.781+10C>T; p.?; 2:135866553-135866553	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2275G>C; p.E759Q; 2:135844619-135844619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.516C>G; p.F172L; 2:135868710-135868710	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1221-1G>T; p.?; 2:135859443-135859443	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1243A>T; p.R415*; 2:135859420-135859420	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.764_765CC>AT; p.S255Y; 2:135866579-135866580	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.E21K; 2:135876305-135876305	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1528T>C; p.Y510H; 2:135856826-135856826	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1097G>T; p.R366L; 2:135862730-135862730	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1673G>A; p.R558K; 2:135852869-135852869	urinary_tract; bladder	carcinoma	Substitution - Missense
c.662C>T; p.P221L; 2:135866682-135866682	skin	malignant_melanoma	Substitution - Missense
c.184G>C; p.V62L; 2:135872767-135872767	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1968C>A; p.I656I; 2:135848138-135848138	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029G>C; p.D677H; 2:135848077-135848077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.946A>G; p.R316G; 2:135865145-135865145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1883C>A; p.S628Y; 2:135851436-135851436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1048C>A; p.L350I; 2:135865043-135865043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>T; p.R285L; 2:135866205-135866205	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.469C>T; p.L157L; 2:135868757-135868757	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.249C>A; p.F83L; 2:135872702-135872702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1591G>A; p.D531N; 2:135856763-135856763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1854G>T; p.V618V; 2:135851465-135851465	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.255-1G>C; p.?; 2:135870362-135870362	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1482C>T; p.N494N; 2:135856872-135856872	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation