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	4322
Symbol	MMP13
Synonymous	CLG3\|MANDP1\|MMP-13
Full name	matrix metallopeptidase 13
Gene description	collagenase 3\|matrix metallopeptidase 13 (collagenase 3)\|matrix metalloproteinase 13 (collagenase 3)
Cytoband	11q22.3
Gene type	protein-coding
Synonymous	MIM:600108; HGNC:HGNC:7159; Ensembl:ENSG00000137745; HPRD:02522; Vega:OTTHUMG00000165850

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.918-2A>G; p.?; 11:102949160-102949160	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.918-2A>G; p.?; 11:102949160-102949160	liver	carcinoma	Unknown
c.998G>A; p.R333H; 11:102949078-102949078	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.7C>A; p.P3T; 11:102955699-102955699	breast	carcinoma	Substitution - Missense
c.1373G>A; p.R458H; 11:102944309-102944309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.D204N; 11:102954183-102954183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.610G>A; p.D204N; 11:102954183-102954183	skin	malignant_melanoma	Substitution - Missense
c.68C>T; p.P23L; 11:102955638-102955638	skin	malignant_melanoma	Substitution - Missense
c.590G>C; p.G197A; 11:102954203-102954203	skin	malignant_melanoma	Substitution - Missense
c.1151C>G; p.A384G; 11:102947951-102947951	skin	malignant_melanoma	Substitution - Missense
c.469C>T; p.H157Y; 11:102954500-102954500	skin	malignant_melanoma	Substitution - Missense
c.868C>A; p.L290I; 11:102950159-102950159	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4C>T; p.H2Y; 11:102955702-102955702	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.321C>T; p.F107F; 11:102955293-102955293	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.703G>A; p.D235N; 11:102952108-102952108	breast	carcinoma	Substitution - Missense
c.321C>T; p.F107F; 11:102955293-102955293	skin	malignant_melanoma	Substitution - coding silent
c.1366A>C; p.S456R; 11:102944316-102944316	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1384G>A; p.V462I; 11:102944298-102944298	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.799+8G>A; p.?; 11:102952004-102952004	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.955G>A; p.E319K; 11:102949121-102949121	skin; neck	malignant_melanoma	Substitution - Missense
c.89A>G; p.D30G; 11:102955617-102955617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.89A>G; p.D30G; 11:102955617-102955617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.34T>A; p.L12M; 11:102955672-102955672	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.688C>T; p.L230F; 11:102952123-102952123	skin	malignant_melanoma	Substitution - Missense
c.205C>T; p.R69*; 11:102955409-102955409	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.725C>G; p.P242R; 11:102952086-102952086	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.823C>T; p.P275S; 11:102950204-102950204	liver	carcinoma	Substitution - Missense
c.823C>T; p.P275S; 11:102950204-102950204	liver	carcinoma	Substitution - Missense
c.597C>T; p.A199A; 11:102954196-102954196	skin	malignant_melanoma	Substitution - coding silent
c.1231A>T; p.I411F; 11:102945730-102945730	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>A; p.P417P; 11:102945710-102945710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.259A>G; p.T87A; 11:102955355-102955355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.510G>T; p.K170N; 11:102954459-102954459	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.382G>A; p.D128N; 11:102954587-102954587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1108_1109insA; p.I370fs*3; 11:102947993-102947994	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1108_1109insA; p.I370fs*3; 11:102947993-102947994	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.121C>T; p.R41C; 11:102955493-102955493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.674G>T; p.G225V; 11:102952137-102952137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.121C>T; p.R41C; 11:102955493-102955493	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.623C>A; p.T208K; 11:102954170-102954170	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.803C>T; p.P268L; 11:102950224-102950224	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1133A>G; p.E378G; 11:102947969-102947969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>A; p.Y120*; 11:102955254-102955254	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.332T>G; p.L111R; 11:102955282-102955282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1136T>C; p.V379A; 11:102947966-102947966	pancreas	carcinoma	Substitution - Missense
c.1294G>T; p.D432Y; 11:102945667-102945667	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.149C>G; p.T50R; 11:102955465-102955465	breast	carcinoma	Substitution - Missense
c.1225A>G; p.N409D; 11:102945736-102945736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.369G>A; p.V123V; 11:102954600-102954600	skin	malignant_melanoma	Substitution - coding silent
c.461C>A; p.T154N; 11:102954508-102954508	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.549C>T; p.G183G; 11:102954244-102954244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.667G>A; p.E223K; 11:102952144-102952144	NS	NS	Substitution - Missense
c.348G>A; p.M116I; 11:102955266-102955266	skin	malignant_melanoma	Substitution - Missense
c.800-9C>T; p.?; 11:102950236-102950236	stomach	carcinoma; adenocarcinoma	Unknown
c.1321A>T; p.I441F; 11:102944361-102944361	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.636A>G; p.K212K; 11:102954157-102954157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.839C>T; p.T280M; 11:102950188-102950188	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>T; p.T280M; 11:102950188-102950188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.800-9C>T; p.?; 11:102950236-102950236	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.839C>T; p.T280M; 11:102950188-102950188	liver	carcinoma	Substitution - Missense
c.800-9C>T; p.?; 11:102950236-102950236	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1385T>G; p.V462G; 11:102944297-102944297	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.511+1G>A; p.?; 11:102954457-102954457	skin	malignant_melanoma	Unknown
c.1219G>A; p.D407N; 11:102945742-102945742	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.718A>C; p.M240L; 11:102952093-102952093	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1219G>A; p.D407N; 11:102945742-102945742	oesophagus	carcinoma	Substitution - Missense
c.1015G>A; p.E339K; 11:102949061-102949061	thyroid	carcinoma	Substitution - Missense
c.108C>A; p.L36L; 11:102955598-102955598	prostate	adenoma	Substitution - coding silent
c.1041C>A; p.F347L; 11:102949035-102949035	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1041C>A; p.F347L; 11:102949035-102949035	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.850T>C; p.C284R; 11:102950177-102950177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.541C>T; p.P181S; 11:102954252-102954252	skin	malignant_melanoma	Substitution - Missense
c.1041C>T; p.F347F; 11:102949035-102949035	skin	malignant_melanoma	Substitution - coding silent
c.895G>A; p.E299K; 11:102950132-102950132	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.866_867CC>TT; p.S289F; 11:102950160-102950161	skin	malignant_melanoma	Substitution - Missense
c.23C>T; p.A8V; 11:102955683-102955683	skin	malignant_melanoma	Substitution - Missense
c.1291G>A; p.V431I; 11:102945670-102945670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88G>A; p.D30N; 11:102955618-102955618	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1381C>T; p.R461C; 11:102944301-102944301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>T; p.A221V; 11:102952149-102952149	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1051G>A; p.G351S; 11:102949025-102949025	skin	malignant_melanoma	Substitution - Missense
c.772G>A; p.D258N; 11:102952039-102952039	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1025C>A; p.S342Y; 11:102949051-102949051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.341C>A; p.S114Y; 11:102955273-102955273	skin	malignant_melanoma	Substitution - Missense
c.1232T>C; p.I411T; 11:102945729-102945729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.683T>C; p.L228S; 11:102952128-102952128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.672C>T; p.F224F; 11:102952139-102952139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.672C>T; p.F224F; 11:102952139-102952139	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.672C>T; p.F224F; 11:102952139-102952139	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267G>A; p.D423N; 11:102945694-102945694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.580A>G; p.N194D; 11:102954213-102954213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.368T>G; p.V123G; 11:102954601-102954601	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.368T>G; p.V123G; 11:102954601-102954601	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.808G>A; p.D270N; 11:102950219-102950219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.808G>A; p.D270N; 11:102950219-102950219	skin; mucosal	malignant_melanoma	Substitution - Missense
c.157G>A; p.A53T; 11:102955457-102955457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1208G>A; p.W403*; 11:102947894-102947894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.298G>A; p.D100N; 11:102955316-102955316	skin; hand	malignant_melanoma	Substitution - Missense
c.1329T>G; p.F443L; 11:102944353-102944353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1386C>A; p.V462V; 11:102944296-102944296	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.302T>C; p.V101A; 11:102955312-102955312	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>A; p.L56M; 11:102955448-102955448	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.58C>A; p.L20M; 11:102955648-102955648	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.402C>T; p.V134V; 11:102954567-102954567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>A; p.D390N; 11:102947934-102947934	skin	malignant_melanoma	Substitution - Missense
c.402C>T; p.V134V; 11:102954567-102954567	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.709G>A; p.G237R; 11:102952102-102952102	skin	malignant_melanoma	Substitution - Missense
c.991C>T; p.P331S; 11:102949085-102949085	skin	malignant_melanoma	Substitution - Missense
c.158C>T; p.A53V; 11:102955456-102955456	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.97G>A; p.E33K; 11:102955609-102955609	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.156C>T; p.L52L; 11:102955458-102955458	skin	malignant_melanoma	Substitution - coding silent
c.472G>A; p.D158N; 11:102954497-102954497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242G>A; p.G81D; 11:102955372-102955372	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.448C>T; p.P150S; 11:102954521-102954521	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.448C>T; p.P150S; 11:102954521-102954521	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.743G>A; p.G248D; 11:102952068-102952068	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.743G>A; p.G248D; 11:102952068-102952068	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.860C>T; p.S287F; 11:102950167-102950167	skin	malignant_melanoma	Substitution - Missense
c.783G>T; p.G261G; 11:102952028-102952028	breast	carcinoma	Substitution - coding silent
c.1337G>C; p.G446A; 11:102944345-102944345	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.163A>C; p.I55L; 11:102955451-102955451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.909T>G; p.F303L; 11:102950118-102950118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1385T>C; p.V462A; 11:102944297-102944297	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1385T>C; p.V462A; 11:102944297-102944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385T>C; p.V462A; 11:102944297-102944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.674G>A; p.G225D; 11:102952137-102952137	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.674G>A; p.G225D; 11:102952137-102952137	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.232G>A; p.E78K; 11:102955382-102955382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.220T>G; p.F74V; 11:102955394-102955394	skin	malignant_melanoma	Substitution - Missense
c.667G>C; p.E223Q; 11:102952144-102952144	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.227G>A; p.G76D; 11:102955387-102955387	NS	malignant_melanoma	Substitution - Missense
c.227G>A; p.G76D; 11:102955387-102955387	NS	malignant_melanoma	Substitution - Missense
c.1180A>G; p.T394A; 11:102947922-102947922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.503G>A; p.G168E; 11:102954466-102954466	skin	malignant_melanoma	Substitution - Missense
c.1319A>G; p.Y440C; 11:102944363-102944363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.717C>A; p.L239L; 11:102952094-102952094	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.122G>A; p.R41H; 11:102955492-102955492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.202C>A; p.L68I; 11:102955412-102955412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.969G>A; p.T323T; 11:102949107-102949107	skin	malignant_melanoma	Substitution - coding silent
c.969G>A; p.T323T; 11:102949107-102949107	skin	malignant_melanoma	Substitution - coding silent
c.42G>T; p.W14C; 11:102955664-102955664	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.33C>A; p.F11L; 11:102955673-102955673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.621G>A; p.W207*; 11:102954172-102954172	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1153G>T; p.A385S; 11:102947949-102947949	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.867C>G; p.S289S; 11:102950160-102950160	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.763C>T; p.P255S; 11:102952048-102952048	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation