| Gene ID | 4317 |
| Symbol | MMP8 |
| Synonymous | CLG1|HNC|MMP-8|PMNL-CL |
| Full name | matrix metallopeptidase 8 |
| Gene description | PMN leukocyte collagenase|PMNL collagenase|collagenase 2|matrix metalloproteinase 8 (neutrophil collagenase)|matrix metalloproteinase-8|neutrophil collagenase |
| Cytoband | 11q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:120355; HGNC:HGNC:7175; Ensembl:ENSG00000118113; HPRD:00385; Vega:OTTHUMG00000167587 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1305T>A; p.H435Q; 11:102713447-102713447 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.872T>C; p.L291P; 11:102716332-102716332 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.872T>C; p.L291P; 11:102716332-102716332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.872T>C; p.L291P; 11:102716332-102716332 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.842C>A; p.P281H; 11:102716362-102716362 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.224C>T; p.T75M; 11:102722552-102722552 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.594C>T; p.A198A; 11:102721429-102721429 |
thyroid | other; neoplasm | Substitution - coding silent |
c.275G>A; p.G92E; 11:102722501-102722501 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.661C>A; p.H221N; 11:102718537-102718537 |
breast | carcinoma | Substitution - Missense |
c.593C>T; p.A198V; 11:102721430-102721430 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.593C>T; p.A198V; 11:102721430-102721430 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.29T>A; p.L10Q; 11:102724827-102724827 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.177C>T; p.I59I; 11:102722599-102722599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.24A>G; p.P8P; 11:102724832-102724832 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.177C>T; p.I59I; 11:102722599-102722599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.177C>T; p.I59I; 11:102722599-102722599 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.177C>T; p.I59I; 11:102722599-102722599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.325G>A; p.E109K; 11:102722451-102722451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.935G>C; p.R312T; 11:102715405-102715405 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.935G>C; p.R312T; 11:102715405-102715405 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.283G>A; p.D95N; 11:102722493-102722493 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.939C>T; p.V313V; 11:102715401-102715401 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.940G>A; p.E314K; 11:102715400-102715400 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.940G>A; p.E314K; 11:102715400-102715400 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1379A>C; p.K460T; 11:102713373-102713373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.268C>T; p.R90C; 11:102722508-102722508 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.33C>T; p.L11L; 11:102724823-102724823 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1084C>T; p.P362S; 11:102714662-102714662 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1084C>T; p.P362S; 11:102714662-102714662 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583C>A; p.H195N; 11:102721440-102721440 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.439A>T; p.I147F; 11:102721671-102721671 |
skin | malignant_melanoma | Substitution - Missense |
c.537C>T; p.I179I; 11:102721486-102721486 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.310G>A; p.G104R; 11:102722466-102722466 |
skin; chest | malignant_melanoma | Substitution - Missense |
c.691C>T; p.P231S; 11:102718507-102718507 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.606G>C; p.W202C; 11:102721417-102721417 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.867C>T; p.T289T; 11:102716337-102716337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.827C>A; p.P276H; 11:102716377-102716377 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1201C>A; p.Q401K; 11:102713847-102713847 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.951T>C; p.F317F; 11:102715389-102715389 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1134C>T; p.D378D; 11:102714612-102714612 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.873C>T; p.L291L; 11:102716331-102716331 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.873C>T; p.L291L; 11:102716331-102716331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.956C>A; p.S319Y; 11:102715384-102715384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.149C>T; p.S50F; 11:102722627-102722627 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.178G>A; p.V60I; 11:102722598-102722598 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.149C>T; p.S50F; 11:102722627-102722627 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.181G>A; p.E61K; 11:102722595-102722595 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.885A>G; p.I295M; 11:102716319-102716319 |
skin | malignant_melanoma | Substitution - Missense |
c.1120G>A; p.V374I; 11:102714626-102714626 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1308C>A; p.V436V; 11:102713444-102713444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.234A>C; p.P78P; 11:102722542-102722542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8C>G; p.S3C; 11:102724848-102724848 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273G>C; p.D425H; 11:102713775-102713775 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.960A>G; p.L320L; 11:102715380-102715380 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>C; p.E138Q; 11:102721698-102721698 |
skin; lower_leg | malignant_melanoma | Substitution - Missense |
c.903-5G>T; p.?; 11:102715442-102715442 |
liver | carcinoma | Unknown |
c.311G>A; p.G104E; 11:102722465-102722465 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.112G>A; p.E38K; 11:102722664-102722664 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.112G>A; p.E38K; 11:102722664-102722664 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.457C>A; p.Q153K; 11:102721653-102721653 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1078G>A; p.G360S; 11:102714668-102714668 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.876T>C; p.R292R; 11:102716328-102716328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.876T>C; p.R292R; 11:102716328-102716328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1274A>G; p.D425G; 11:102713774-102713774 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274A>G; p.D425G; 11:102713774-102713774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274A>G; p.D425G; 11:102713774-102713774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274A>G; p.D425G; 11:102713774-102713774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274A>G; p.D425G; 11:102713774-102713774 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.532G>T; p.G178*; 11:102721491-102721491 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.114A>G; p.E38E; 11:102722662-102722662 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.62T>C; p.F21S; 11:102724794-102724794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.261A>C; p.K87N; 11:102722515-102722515 |
skin; face | malignant_melanoma | Substitution - Missense |
c.1295-5delT; p.?; 11:102713462-102713462 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1295-5delT; p.?; 11:102713462-102713462 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.814G>A; p.G272R; 11:102716390-102716390 |
liver | carcinoma | Substitution - Missense |
c.814G>A; p.G272R; 11:102716390-102716390 |
liver | carcinoma | Substitution - Missense |
c.512C>T; p.S171F; 11:102721511-102721511 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036+2T>A; p.?; 11:102715302-102715302 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.836G>T; p.C279F; 11:102716368-102716368 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787C>T; p.L263F; 11:102716417-102716417 |
skin | malignant_melanoma | Substitution - Missense |
c.202C>T; p.R68*; 11:102722574-102722574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1330G>T; p.A444S; 11:102713422-102713422 |
thyroid | carcinoma | Substitution - Missense |
c.665C>A; p.S222Y; 11:102718533-102718533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>T; p.V58L; 11:102722604-102722604 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.286A>T; p.S96C; 11:102722490-102722490 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.286A>T; p.S96C; 11:102722490-102722490 |
liver | carcinoma | Substitution - Missense |
c.217A>C; p.N73H; 11:102722559-102722559 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.232C>T; p.P78S; 11:102722544-102722544 |
skin; face | malignant_melanoma | Substitution - Missense |
c.1261G>C; p.E421Q; 11:102713787-102713787 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1294+9G>A; p.?; 11:102713745-102713745 |
liver | carcinoma | Unknown |
c.1140T>A; p.A380A; 11:102714606-102714606 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.210delT; p.F70fs*3; 11:102722566-102722566 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.533G>A; p.G178E; 11:102721490-102721490 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.533G>A; p.G178E; 11:102721490-102721490 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.875G>T; p.R292L; 11:102716329-102716329 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.126A>G; p.Q42Q; 11:102722650-102722650 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.126A>G; p.Q42Q; 11:102722650-102722650 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.104A>G; p.D35G; 11:102722672-102722672 |
liver | carcinoma | Substitution - Missense |
c.104A>G; p.D35G; 11:102722672-102722672 |
liver | carcinoma | Substitution - Missense |
c.514C>T; p.P172S; 11:102721509-102721509 |
skin | malignant_melanoma | Substitution - Missense |
c.385G>A; p.V129I; 11:102721725-102721725 |
skin | malignant_melanoma | Substitution - Missense |
c.1139C>T; p.A380V; 11:102714607-102714607 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.762C>T; p.I254I; 11:102718436-102718436 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762C>T; p.I254I; 11:102718436-102718436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.762C>T; p.I254I; 11:102718436-102718436 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903-1G>A; p.?; 11:102715438-102715438 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.762C>T; p.I254I; 11:102718436-102718436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.917G>T; p.R306M; 11:102715423-102715423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.89C>A; p.T30K; 11:102724767-102724767 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1026C>T; p.F342F; 11:102715314-102715314 |
skin | malignant_melanoma | Substitution - coding silent |
c.469G>T; p.D157Y; 11:102721641-102721641 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.1188G>C; p.W396C; 11:102714558-102714558 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1326T>G; p.Y442*; 11:102713426-102713426 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.880G>T; p.E294*; 11:102716324-102716324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1242A>C; p.S414S; 11:102713806-102713806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.113A>G; p.E38G; 11:102722663-102722663 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041C>T; p.N347N; 11:102714705-102714705 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1A>C; p.M1L; 11:102724855-102724855 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707A>C; p.Y236S; 11:102718491-102718491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.272G>T; p.C91F; 11:102722504-102722504 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.874C>T; p.R292C; 11:102716330-102716330 |
skin | malignant_melanoma | Substitution - Missense |