| Gene ID | 4176 |
| Symbol | MCM7 |
| Synonymous | CDC47|MCM2|P1.1-MCM3|P1CDC47|P85MCM|PNAS146|PPP1R104 |
| Full name | minichromosome maintenance complex component 7 |
| Gene description | CDC47 homolog|DNA replication licensing factor MCM7|homolog of S. cerevisiae Cdc47|minichromosome maintenance deficient 7|protein phosphatase 1, regulatory subunit 104 |
| Cytoband | 7q21.3-q22.1 |
| Gene type | protein-coding |
| Synonymous | MIM:600592; HGNC:HGNC:6950; Ensembl:ENSG00000166508; HPRD:01154; Vega:OTTHUMG00000154671 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1267A>C; p.T423P; 7:100094226-100094226 |
breast | carcinoma | Substitution - Missense |
c.1045C>A; p.P349T; 7:100095796-100095796 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1268C>T; p.T423I; 7:100094225-100094225 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.328C>T; p.R110*; 7:100098155-100098155 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.328C>T; p.R110*; 7:100098155-100098155 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1357G>C; p.D453H; 7:100093365-100093365 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.897C>T; p.L299L; 7:100095944-100095944 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.768G>A; p.G256G; 7:100096073-100096073 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.768G>A; p.G256G; 7:100096073-100096073 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.658C>T; p.R220*; 7:100097316-100097316 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.269A>G; p.Q90R; 7:100098214-100098214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.549C>T; p.V183V; 7:100097654-100097654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1154G>A; p.R385H; 7:100094339-100094339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.410A>C; p.E137A; 7:100097881-100097881 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.Q213*; 7:100097337-100097337 |
breast | carcinoma | Substitution - Nonsense |
c.635C>G; p.S212C; 7:100097339-100097339 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.640C>G; p.L214V; 7:100097334-100097334 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.635C>G; p.S212C; 7:100097339-100097339 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.532C>T; p.L178L; 7:100097671-100097671 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.215A>G; p.N72S; 7:100098268-100098268 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.929C>A; p.A310D; 7:100095912-100095912 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1241G>A; p.R414Q; 7:100094252-100094252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.508G>T; p.G170W; 7:100097695-100097695 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116delC; p.S373fs*8; 7:100095422-100095422 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1503C>A; p.F501L; 7:100093061-100093061 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.274G>A; p.G92R; 7:100098209-100098209 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545C>T; p.P515P; 7:100093019-100093019 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1304G>A; p.R435H; 7:100094189-100094189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.512A>G; p.H171R; 7:100097691-100097691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>A; p.V97I; 7:100098194-100098194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203G>T; p.L401L; 7:100094290-100094290 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.647C>T; p.S216L; 7:100097327-100097327 |
breast | carcinoma | Substitution - Missense |
c.471C>T; p.Y157Y; 7:100097732-100097732 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.882C>T; p.A294A; 7:100095959-100095959 |
skin | malignant_melanoma | Substitution - coding silent |
c.1479C>G; p.V493V; 7:100093085-100093085 |
breast | carcinoma | Substitution - coding silent |
c.165A>C; p.K55N; 7:100098605-100098605 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1391C>A; p.S464*; 7:100093331-100093331 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.466T>G; p.F156V; 7:100097737-100097737 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.355G>C; p.E119Q; 7:100097936-100097936 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1560G>A; p.A520A; 7:100093004-100093004 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.813C>T; p.F271F; 7:100096028-100096028 |
skin | malignant_melanoma | Substitution - coding silent |
c.1516C>T; p.Q506*; 7:100093048-100093048 |
liver | carcinoma | Substitution - Nonsense |
c.813C>T; p.F271F; 7:100096028-100096028 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1516C>T; p.Q506*; 7:100093048-100093048 |
liver | carcinoma | Substitution - Nonsense |
c.444G>C; p.L148L; 7:100097847-100097847 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.717G>A; p.T239T; 7:100096124-100096124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.472G>A; p.E158K; 7:100097731-100097731 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.472G>A; p.E158K; 7:100097731-100097731 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>G; p.A241G; 7:100096119-100096119 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.386A>G; p.K129R; 7:100097905-100097905 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.493G>A; p.A165T; 7:100097710-100097710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.912C>T; p.A304A; 7:100095929-100095929 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.55-1G>T; p.?; 7:100098716-100098716 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.1297A>G; p.I433V; 7:100094196-100094196 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.116G>T; p.R39L; 7:100098654-100098654 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.631A>G; p.K211E; 7:100097343-100097343 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.733G>A; p.D245N; 7:100096108-100096108 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.995C>T; p.P332L; 7:100095846-100095846 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>A; p.G184R; 7:100097653-100097653 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.550G>A; p.G184R; 7:100097653-100097653 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.459G>T; p.E153D; 7:100097744-100097744 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1119C>T; p.S373S; 7:100095419-100095419 |
skin | malignant_melanoma | Substitution - coding silent |
c.285C>T; p.V95V; 7:100098198-100098198 |
skin | malignant_melanoma | Substitution - coding silent |
c.1051C>T; p.R351*; 7:100095790-100095790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.835C>T; p.R279C; 7:100096006-100096006 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1361T>C; p.V454A; 7:100093361-100093361 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.342G>A; p.Q114Q; 7:100098141-100098141 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105C>T; p.R369W; 7:100095433-100095433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.488C>A; p.S163*; 7:100097715-100097715 |
breast | carcinoma | Substitution - Nonsense |
c.674G>C; p.S225T; 7:100096167-100096167 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1243G>T; p.E415*; 7:100094250-100094250 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1419G>A; p.G473G; 7:100093303-100093303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.547G>T; p.V183F; 7:100097656-100097656 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.690C>A; p.G230G; 7:100096151-100096151 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1417G>A; p.G473R; 7:100093305-100093305 |
skin | malignant_melanoma | Substitution - Missense |
c.1243G>A; p.E415K; 7:100094250-100094250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.631_632delAA; p.K211fs*8; 7:100097342-100097343 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.1157A>G; p.Y386C; 7:100094336-100094336 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052G>A; p.R351Q; 7:100095789-100095789 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1227C>T; p.Y409Y; 7:100094266-100094266 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1227C>T; p.Y409Y; 7:100094266-100094266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.836G>A; p.R279H; 7:100096005-100096005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.327C>A; p.F109L; 7:100098156-100098156 |
skin | malignant_melanoma | Substitution - Missense |
c.1013G>A; p.R338Q; 7:100095828-100095828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.510G>A; p.G170G; 7:100097693-100097693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507C>T; p.Y169Y; 7:100097696-100097696 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.192+1G>A; p.?; 7:100098577-100098577 |
oesophagus | carcinoma | Unknown |
c.1497C>G; p.V499V; 7:100093067-100093067 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1043G>T; p.R348L; 7:100095798-100095798 |
stomach | adenocarcinoma | Substitution - Missense |
c.1066C>T; p.R356W; 7:100095775-100095775 |
ovary | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591T>C; p.W531R; 7:100092973-100092973 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538C>T; p.L180F; 7:100097665-100097665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>T; p.T239S; 7:100096126-100096126 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1211A>T; p.Y404F; 7:100094282-100094282 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>T; p.T239S; 7:100096126-100096126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>T; p.T239S; 7:100096126-100096126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1048G>A; p.D350N; 7:100095793-100095793 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.551G>A; p.G184E; 7:100097652-100097652 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.34G>A; p.G12R; 7:100099043-100099043 |
thyroid | other; neoplasm | Substitution - Missense |
c.1008C>T; p.L336L; 7:100095833-100095833 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1440A>G; p.R480R; 7:100093124-100093124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.629C>A; p.A210D; 7:100097345-100097345 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118C>T; p.S373F; 7:100095420-100095420 |
skin | malignant_melanoma | Substitution - Missense |
c.1118C>T; p.S373F; 7:100095420-100095420 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.670C>T; p.R224C; 7:100097304-100097304 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.670C>T; p.R224C; 7:100097304-100097304 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.670C>T; p.R224C; 7:100097304-100097304 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1118C>T; p.S373F; 7:100095420-100095420 |
skin | malignant_melanoma | Substitution - Missense |
c.718G>A; p.A240T; 7:100096123-100096123 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1574A>G; p.Y525C; 7:100092990-100092990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710G>A; p.G237E; 7:100096131-100096131 |
stomach | adenocarcinoma | Substitution - Missense |
c.985A>G; p.I329V; 7:100095856-100095856 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.234G>A; p.T78T; 7:100098249-100098249 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.283G>T; p.V95F; 7:100098200-100098200 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.775G>A; p.V259M; 7:100096066-100096066 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.125G>A; p.G42E; 7:100098645-100098645 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>T; p.G184W; 7:100097653-100097653 |
urinary_tract; bladder | carcinoma | Substitution - Missense |