Entrez Gene

Basic Information
Gene ID	339967
Name	TMPRSS11A
Synonymous	transmembrane protease, serine 11A;TMPRSS11A;transmembrane protease, serine 11A
Definition	airway trypsin-like protease 1\|epidermal type II transmembrane serine protease\|epidermal type-II transmembrane serine protease\|esophageal cancer-susceptibility gene 1 protein\|transmembrane protease serine 11A
Position	4q13.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.366G>A; p.M122I; 4:67930004-67930004	skin	malignant_melanoma	Substitution - Missense
c.910C>A; p.Q304K; 4:67919024-67919024	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.843C>A; p.V281V; 4:67919091-67919091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1073G>A; p.G358E; 4:67914619-67914619	skin	malignant_melanoma	Substitution - Missense
c.255G>A; p.V85V; 4:67944516-67944516	skin	malignant_melanoma	Substitution - coding silent
c.906C>T; p.S302S; 4:67919028-67919028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.954delC; p.Y319fs*14; 4:67918980-67918980	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.257G>A; p.S86N; 4:67944514-67944514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856A>C; p.T286P; 4:67919078-67919078	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.628G>A; p.D210N; 4:67922828-67922828	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.723G>T; p.W241C; 4:67919211-67919211	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1105-7T>G; p.?; 4:67911510-67911510	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.483A>C; p.Q161H; 4:67929887-67929887	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.931A>G; p.I311V; 4:67919003-67919003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.878A>G; p.Q293R; 4:67919056-67919056	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1158C>A; p.L386L; 4:67911450-67911450	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1178G>A; p.G393E; 4:67911430-67911430	skin	malignant_melanoma	Substitution - Missense
c.1178G>A; p.G393E; 4:67911430-67911430	breast	carcinoma	Substitution - Missense
c.379C>T; p.P127S; 4:67929991-67929991	skin	malignant_melanoma	Substitution - Missense
c.64G>A; p.V22I; 4:67946519-67946519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.R292C; 4:67919060-67919060	large_intestine; rectum	adenoma	Substitution - Missense
c.262-1G>C; p.?; 4:67932061-67932061	oesophagus	carcinoma; adenocarcinoma	Unknown
c.874C>T; p.R292C; 4:67919060-67919060	prostate	carcinoma	Substitution - Missense
c.232C>T; p.R78*; 4:67944539-67944539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.542G>A; p.R181Q; 4:67922914-67922914	skin	malignant_melanoma	Substitution - Missense
c.1118G>A; p.G373E; 4:67911490-67911490	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43C>A; p.L15M; 4:67946540-67946540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.822C>T; p.Y274Y; 4:67919112-67919112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.822C>T; p.Y274Y; 4:67919112-67919112	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.416T>A; p.I139N; 4:67929954-67929954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.877C>T; p.Q293*; 4:67919057-67919057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1266A>G; p.422; 4:67911342-67911342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.217C>A; p.Q73K; 4:67944554-67944554	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.969C>T; p.S323S; 4:67914723-67914723	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.523C>T; p.Q175*; 4:67924134-67924134	skin	malignant_melanoma	Substitution - Nonsense
c.1045G>A; p.D349N; 4:67914647-67914647	skin	malignant_melanoma	Substitution - Missense
c.1045G>A; p.D349N; 4:67914647-67914647	skin	malignant_melanoma	Substitution - Missense
c.1188T>C; p.C396C; 4:67911420-67911420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.63C>A; p.A21A; 4:67946520-67946520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.992G>A; p.R331K; 4:67914700-67914700	skin	malignant_melanoma	Substitution - Missense
c.737G>A; p.G246E; 4:67919197-67919197	skin	malignant_melanoma	Substitution - Missense
c.217C>T; p.Q73*; 4:67944554-67944554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1197G>A; p.K399K; 4:67911411-67911411	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3G>A; p.M1I; 4:67963391-67963391	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 4:67963391-67963391	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 4:67963391-67963391	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.470C>T; p.A157V; 4:67929900-67929900	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100A>G; p.T34A; 4:67946483-67946483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.946G>T; p.A316S; 4:67918988-67918988	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.212C>A; p.T71K; 4:67944559-67944559	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.M165I; 4:67924162-67924162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.559G>A; p.V187I; 4:67922897-67922897	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>T; p.T80M; 4:67944532-67944532	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>T; p.T80M; 4:67944532-67944532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.E79K; 4:67944536-67944536	skin	malignant_melanoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	breast	carcinoma	Substitution - Missense
c.673C>A; p.L225I; 4:67922783-67922783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	skin	malignant_melanoma	Substitution - Missense
c.863C>T; p.S288L; 4:67919071-67919071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.312C>A; p.N104K; 4:67932010-67932010	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>T; p.G313*; 4:67918997-67918997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.781T>G; p.F261V; 4:67919153-67919153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.208A>G; p.N70D; 4:67944563-67944563	liver	carcinoma	Substitution - Missense
c.712C>T; p.P238S; 4:67919222-67919222	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>T; p.E171*; 4:67924146-67924146	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.487A>C; p.N163H; 4:67929883-67929883	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.63C>G; p.A21A; 4:67946520-67946520	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1255A>T; p.T419S; 4:67911353-67911353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.968C>G; p.S323C; 4:67914724-67914724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>G; p.Q87R; 4:67944511-67944511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.953A>T; p.Y318F; 4:67918981-67918981	pancreas	carcinoma	Substitution - Missense
c.953A>T; p.Y318F; 4:67918981-67918981	pancreas	carcinoma	Substitution - Missense
c.57G>A; p.M19I; 4:67946526-67946526	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.915A>C; p.P305P; 4:67919019-67919019	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.595G>A; p.A199T; 4:67922861-67922861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.541C>T; p.R181*; 4:67922915-67922915	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.119A>G; p.H40R; 4:67946464-67946464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.303T>A; p.Y101*; 4:67932019-67932019	liver	carcinoma	Substitution - Nonsense
c.303T>A; p.Y101*; 4:67932019-67932019	liver	carcinoma	Substitution - Nonsense
c.116T>C; p.V39A; 4:67946467-67946467	breast	carcinoma	Substitution - Missense
c.1007G>A; p.S336N; 4:67914685-67914685	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.D338N; 4:67914680-67914680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.296A>T; p.K99I; 4:67932026-67932026	skin	malignant_melanoma	Substitution - Missense
c.250T>G; p.L84V; 4:67944521-67944521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.378C>A; p.F126L; 4:67929992-67929992	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>A; p.A176T; 4:67924131-67924131	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.424A>C; p.I142L; 4:67929946-67929946	skin	malignant_melanoma	Substitution - Missense
c.94G>A; p.A32T; 4:67946489-67946489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1114G>T; p.G372W; 4:67911494-67911494	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1104+2T>A; p.?; 4:67914586-67914586	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.793G>A; p.E265K; 4:67919141-67919141	urinary_tract; bladder	carcinoma	Substitution - Missense
c.90G>A; p.V30V; 4:67946493-67946493	skin	malignant_melanoma	Substitution - coding silent
c.309G>C; p.K103N; 4:67932013-67932013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.877C>A; p.Q293K; 4:67919057-67919057	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.779G>T; p.R260I; 4:67919155-67919155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.294G>A; p.K98K; 4:67932028-67932028	skin	malignant_melanoma	Substitution - coding silent
c.977A>G; p.D326G; 4:67914715-67914715	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.143delA; p.K48fs*11; 4:67944628-67944628	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.143delA; p.K48fs*11; 4:67944628-67944628	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1090T>C; p.Y364H; 4:67914602-67914602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.713C>A; p.P238Q; 4:67919221-67919221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1045G>C; p.D349H; 4:67914647-67914647	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.244G>A; p.E82K; 4:67944527-67944527	skin	malignant_melanoma	Substitution - Missense
c.244G>A; p.E82K; 4:67944527-67944527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.244G>A; p.E82K; 4:67944527-67944527	skin	malignant_melanoma	Substitution - Missense
c.752C>A; p.P251H; 4:67919182-67919182	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.938G>A; p.G313E; 4:67918996-67918996	skin	malignant_melanoma	Substitution - Missense
c.1235G>A; p.R412Q; 4:67911373-67911373	skin	malignant_melanoma	Substitution - Missense
c.605C>A; p.P202H; 4:67922851-67922851	ovary	other; neoplasm	Substitution - Missense
c.1035G>A; p.V345V; 4:67914657-67914657	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.921G>C; p.L307F; 4:67919013-67919013	breast	carcinoma	Substitution - Missense
c.745A>C; p.I249L; 4:67919189-67919189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.306C>T; p.I102I; 4:67932016-67932016	breast	carcinoma	Substitution - coding silent
c.32G>A; p.R11Q; 4:67946551-67946551	pancreas	carcinoma	Substitution - Missense
c.1011T>C; p.D337D; 4:67914681-67914681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.32G>A; p.R11Q; 4:67946551-67946551	skin	malignant_melanoma	Substitution - Missense
c.1011T>C; p.D337D; 4:67914681-67914681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186T>A; p.C396S; 4:67911422-67911422	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.32G>A; p.R11Q; 4:67946551-67946551	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1011T>C; p.D337D; 4:67914681-67914681	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1011T>C; p.D337D; 4:67914681-67914681	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1011T>C; p.D337D; 4:67914681-67914681	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.411G>A; p.K137K; 4:67929959-67929959	skin	malignant_melanoma	Substitution - coding silent
c.983G>A; p.R328Q; 4:67914709-67914709	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.198C>T; p.F66F; 4:67944573-67944573	skin	malignant_melanoma	Substitution - coding silent
c.983G>A; p.R328Q; 4:67914709-67914709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>C; p.D76A; 4:67944544-67944544	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.243C>T; p.T81T; 4:67944528-67944528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.243C>T; p.T81T; 4:67944528-67944528	thyroid	other; neoplasm	Substitution - coding silent
c.596C>T; p.A199V; 4:67922860-67922860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.596C>T; p.A199V; 4:67922860-67922860	skin; abdomen	malignant_melanoma	Substitution - Missense
c.270G>T; p.E90D; 4:67932052-67932052	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.E171K; 4:67924146-67924146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1238A>G; p.N413S; 4:67911370-67911370	liver	carcinoma	Substitution - Missense
c.1085G>A; p.G362E; 4:67914607-67914607	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 4:67914607-67914607	skin	malignant_melanoma	Substitution - Missense
c.18G>A; p.V6V; 4:67946565-67946565	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.596C>A; p.A199E; 4:67922860-67922860	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.313C>A; p.Q105K; 4:67932009-67932009	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.313C>A; p.Q105K; 4:67932009-67932009	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.981C>G; p.L327L; 4:67914711-67914711	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]