Entrez Gene

Basic Information
Gene ID	3249
Name	HPN
Synonymous	hepsin;HPN;hepsin
Definition	serine protease hepsin\|transmembrane protease serine 1
Position	19q13.12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.568G>A; p.G190R; 19:35060460-35060460	skin	malignant_melanoma	Substitution - Missense
c.769G>T; p.D257Y; 19:35060775-35060775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.513G>A; p.L171L; 19:35060405-35060405	skin	malignant_melanoma	Substitution - coding silent
c.636G>T; p.L212L; 19:35060642-35060642	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164C>T; p.G388G; 19:35065981-35065981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.259G>A; p.G87R; 19:35059771-35059771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>A; p.A35T; 19:35049376-35049376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>T; p.R173W; 19:35060409-35060409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.297G>A; p.L99L; 19:35059880-35059880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.638C>T; p.S213F; 19:35060644-35060644	skin	malignant_melanoma	Substitution - Missense
c.735C>T; p.P245P; 19:35060741-35060741	skin	malignant_melanoma	Substitution - coding silent
c.641G>A; p.R214Q; 19:35060647-35060647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1031G>A; p.G344D; 19:35065662-35065662	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.18T>G; p.G6G; 19:35049291-35049291	breast	carcinoma	Substitution - coding silent
c.640C>G; p.R214G; 19:35060646-35060646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.981C>A; p.F327L; 19:35065612-35065612	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.431G>A; p.R144H; 19:35060146-35060146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586G>A; p.D196N; 19:35060478-35060478	skin	malignant_melanoma	Substitution - Missense
c.844G>A; p.G282S; 19:35065282-35065282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.70G>A; p.G24R; 19:35049343-35049343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>A; p.G195R; 19:35060475-35060475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1097C>T; p.T366M; 19:35065914-35065914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1097C>T; p.T366M; 19:35065914-35065914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1047C>T; p.C349C; 19:35065678-35065678	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.505A>C; p.T169P; 19:35060397-35060397	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.586G>T; p.D196Y; 19:35060478-35060478	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.238C>T; p.R80C; 19:35059750-35059750	pancreas	carcinoma	Substitution - Missense
c.245A>G; p.N82S; 19:35059757-35059757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.204G>A; p.K68K; 19:35059716-35059716	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.93C>T; p.A31A; 19:35049366-35049366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1053C>T; p.G351G; 19:35065870-35065870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.721G>T; p.G241W; 19:35060727-35060727	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.P175S; 19:35060415-35060415	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1044C>T; p.A348A; 19:35065675-35065675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.45A>G; p.R15R; 19:35049318-35049318	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.733C>T; p.P245S; 19:35060739-35060739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.489C>T; p.I163I; 19:35060381-35060381	pancreas	carcinoma	Substitution - coding silent
c.489C>T; p.I163I; 19:35060381-35060381	thyroid	other; neoplasm	Substitution - coding silent
c.489C>T; p.I163I; 19:35060381-35060381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.489C>T; p.I163I; 19:35060381-35060381	skin	malignant_melanoma	Substitution - coding silent
c.633C>T; p.V211V; 19:35060639-35060639	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1093C>T; p.R365W; 19:35065910-35065910	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.996C>G; p.I332M; 19:35065627-35065627	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.382A>G; p.T128A; 19:35059965-35059965	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.753C>T; p.S251S; 19:35060759-35060759	pancreas	carcinoma	Substitution - coding silent
c.820C>T; p.Q274*; 19:35065258-35065258	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.300C>A; p.T100T; 19:35059883-35059883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.484C>T; p.R162C; 19:35060376-35060376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.391C>T; p.L131L; 19:35059974-35059974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.391C>T; p.L131L; 19:35059974-35059974	thyroid	other; neoplasm	Substitution - coding silent
c.612C>T; p.C204C; 19:35060504-35060504	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.353_355delTCT; p.F118delF; 19:35059936-35059938	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.951C>T; p.I317I; 19:35065582-35065582	skin	malignant_melanoma	Substitution - coding silent
c.1023C>T; p.Y341Y; 19:35065654-35065654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1127G>T; p.S376I; 19:35065944-35065944	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490G>A; p.V164M; 19:35060382-35060382	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.V389I; 19:35065982-35065982	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1095G>A; p.R365R; 19:35065912-35065912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.963C>A; p.V321V; 19:35065594-35065594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.442G>A; p.A148T; 19:35060157-35060157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.897G>T; p.T299T; 19:35065335-35065335	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1103G>A; p.R368H; 19:35065920-35065920	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.541C>T; p.R181C; 19:35060433-35060433	skin	malignant_melanoma	Substitution - Missense
c.967A>G; p.N323D; 19:35065598-35065598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.917C>T; p.A306V; 19:35065548-35065548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.768C>T; p.N256N; 19:35060774-35060774	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.768C>T; p.N256N; 19:35060774-35060774	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.908-1G>T; p.?; 19:35065538-35065538	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.846C>T; p.G282G; 19:35065284-35065284	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.495A>G; p.G165G; 19:35060387-35060387	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.604G>A; p.A202T; 19:35060496-35060496	pancreas	carcinoma	Substitution - Missense
c.739C>T; p.R247W; 19:35060745-35060745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.342G>A; p.T114T; 19:35059925-35059925	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.463C>T; p.R155C; 19:35060355-35060355	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.618G>A; p.P206P; 19:35060510-35060510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.684C>T; p.H228H; 19:35060690-35060690	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.415G>A; p.D139N; 19:35060130-35060130	oesophagus	carcinoma	Substitution - Missense
c.573C>T; p.S191S; 19:35060465-35060465	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.677C>T; p.S226F; 19:35060683-35060683	skin	malignant_melanoma	Substitution - Missense
c.780G>T; p.L260L; 19:35060786-35060786	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.966C>T; p.C322C; 19:35065597-35065597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.341C>T; p.T114M; 19:35059924-35059924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.G242S; 19:35060730-35060730	skin; neck	malignant_melanoma	Substitution - Missense
c.981C>T; p.F327F; 19:35065612-35065612	skin	malignant_melanoma	Substitution - coding silent
c.1108C>T; p.R370W; 19:35065925-35065925	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>T; p.R370W; 19:35065925-35065925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.243C>T; p.S81S; 19:35059755-35059755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.843C>T; p.A281A; 19:35065281-35065281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162G>T; p.G388C; 19:35065979-35065979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>T; p.G388C; 19:35065979-35065979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>A; p.E398E; 19:35066011-35066011	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.618G>T; p.P206P; 19:35060510-35060510	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.1233C>T; p.S411S; 19:35066266-35066266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.623G>A; p.R208Q; 19:35060629-35060629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623G>A; p.R208Q; 19:35060629-35060629	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.721G>A; p.G241R; 19:35060727-35060727	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.623G>A; p.R208Q; 19:35060629-35060629	skin	malignant_melanoma	Substitution - Missense
c.721G>A; p.G241R; 19:35060727-35060727	pancreas	carcinoma	Substitution - Missense
c.1179C>G; p.V393V; 19:35065996-35065996	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.292G>T; p.A98S; 19:35059875-35059875	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.292G>T; p.A98S; 19:35059875-35059875	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.I149M; 19:35060162-35060162	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>G; p.I149M; 19:35060162-35060162	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.930G>A; p.Q310Q; 19:35065561-35065561	skin	malignant_melanoma	Substitution - coding silent
c.518G>A; p.R173Q; 19:35060410-35060410	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.351C>T; p.F117F; 19:35059934-35059934	skin	malignant_melanoma	Substitution - coding silent
c.1054G>A; p.D352N; 19:35065871-35065871	skin	malignant_melanoma	Substitution - Missense
c.663C>T; p.A221A; 19:35060669-35060669	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]