Entrez Gene

Basic Information
Gene ID	94240
Name	EPSTI1
Synonymous	epithelial stromal interaction 1 (breast);EPSTI1;epithelial stromal interaction 1 (breast)
Definition	epithelial-stromal interaction protein 1
Position	13q13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.211G>T; p.A71S; 13:42970648-42970648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.216A>C; p.P72P; 13:42970643-42970643	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1048C>T; p.L350F; 13:42888435-42888435	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1048C>T; p.L350F; 13:42888435-42888435	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.967delT; p.S323fs*4; 13:42889224-42889224	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.514delA; p.R172fs*23; 13:42953997-42953997	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.536G>T; p.R179I; 13:42953975-42953975	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.292A>T; p.N98Y; 13:42969133-42969133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.882C>T; p.G294G; 13:42895075-42895075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.486G>A; p.E162E; 13:42963258-42963258	skin	malignant_melanoma	Substitution - coding silent
c.638G>A; p.G213D; 13:42926355-42926355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523G>T; p.E175*; 13:42953988-42953988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.848G>T; p.R283M; 13:42900310-42900310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.920G>T; p.C307F; 13:42895037-42895037	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.162G>C; p.E54D; 13:42992004-42992004	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.774+2T>A; p.?; 13:42917539-42917539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.936C>T; p.S312S; 13:42895021-42895021	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.78C>T; p.D26D; 13:42992088-42992088	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.673C>T; p.P225S; 13:42919317-42919317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.405+3C>T; p.?; 13:42964063-42964063	pancreas	carcinoma	Unknown
c.677G>T; p.R226M; 13:42919313-42919313	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>A; p.E270E; 13:42900348-42900348	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1131T>G; p.S377R; 13:42888352-42888352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.730G>T; p.E244*; 13:42917585-42917585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.730G>T; p.E244*; 13:42917585-42917585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.615T>C; p.S205S; 13:42926378-42926378	breast	carcinoma	Substitution - coding silent
c.999G>A; p.L333L; 13:42888484-42888484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.602C>T; p.S201L; 13:42926391-42926391	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.602C>T; p.S201L; 13:42926391-42926391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.P338S; 13:42888471-42888471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>C; p.S377T; 13:42888353-42888353	ovary	other; neoplasm	Substitution - Missense
c.1008C>G; p.I336M; 13:42888475-42888475	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1179_1180insCCTGA; p.E395fs*>18; 13:42888303-42888304	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.1179_1180insCCTGA; p.E395fs*>18; 13:42888303-42888304	breast	carcinoma	Insertion - Frameshift
c.719T>A; p.L240Q; 13:42917596-42917596	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.997T>C; p.L333L; 13:42888486-42888486	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.400C>A; p.Q134K; 13:42964071-42964071	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.155C>T; p.S52L; 13:42992011-42992011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1017A>G; p.S339S; 13:42888466-42888466	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.466delA; p.M156fs*1; 13:42963278-42963278	stomach	adenocarcinoma	Deletion - Frameshift
c.698G>C; p.S233T; 13:42917617-42917617	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.850G>A; p.V284I; 13:42895107-42895107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952_953insGGGTT; p.S318fs*5; 13:42889238-42889239	skin; upper_leg	malignant_melanoma	Insertion - Frameshift
c.670C>A; p.L224M; 13:42919320-42919320	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.77_78insA; p.D26fs*24; 13:42992088-42992089	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Insertion - Frameshift
c.226C>T; p.R76W; 13:42970633-42970633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1049T>A; p.L350H; 13:42888434-42888434	skin	malignant_melanoma	Substitution - Missense
c.1185_1186insCCTGA; p.L396fs*>17; 13:42888297-42888298	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.937G>A; p.G313S; 13:42895020-42895020	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1185_1186insCCTGA; p.L396fs*>17; 13:42888297-42888298	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1185_1186insCCTGA; p.L396fs*>17; 13:42888297-42888298	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.547A>G; p.R183G; 13:42953964-42953964	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>T; p.E344*; 13:42888453-42888453	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.635G>A; p.C212Y; 13:42926358-42926358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.744G>A; p.L248L; 13:42917571-42917571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.570C>T; p.T190T; 13:42926423-42926423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.474A>T; p.A158A; 13:42963270-42963270	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.451G>A; p.A151T; 13:42963293-42963293	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.933T>C; p.N311N; 13:42895024-42895024	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.865C>A; p.L289M; 13:42895092-42895092	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.798G>A; p.R266R; 13:42900360-42900360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.290A>T; p.Q97L; 13:42969135-42969135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.286G>C; p.E96Q; 13:42969139-42969139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.425T>C; p.V142A; 13:42963319-42963319	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.545T>C; p.F182S; 13:42953966-42953966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.230G>T; p.R77I; 13:42970629-42970629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230G>T; p.R77I; 13:42970629-42970629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1197T>A; p.N399K; 13:42888286-42888286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1197T>A; p.N399K; 13:42888286-42888286	thyroid	other; neoplasm	Substitution - Missense
c.1197T>A; p.N399K; 13:42888286-42888286	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.829C>A; p.H277N; 13:42900329-42900329	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1029C>T; p.L343L; 13:42888454-42888454	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.276G>T; p.E92D; 13:42969149-42969149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.G404R; 13:42888273-42888273	skin; neck	malignant_melanoma	Substitution - Missense
c.845G>A; p.R282K; 13:42900313-42900313	skin	malignant_melanoma	Substitution - Missense
c.148G>A; p.G50S; 13:42992018-42992018	skin	malignant_melanoma	Substitution - Missense
c.971G>A; p.R324K; 13:42889220-42889220	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.911C>A; p.S304Y; 13:42895046-42895046	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.245G>A; p.R82K; 13:42970614-42970614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.903C>T; p.L301L; 13:42895054-42895054	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.490-3C>T; p.?; 13:42954024-42954024	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1074C>T; p.S358S; 13:42888409-42888409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1125C>T; p.V375V; 13:42888358-42888358	thyroid	carcinoma	Substitution - coding silent
c.970A>T; p.R324W; 13:42889221-42889221	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1185A>C; p.E395D; 13:42888298-42888298	kidney	other; neoplasm	Substitution - Missense
c.1185A>C; p.E395D; 13:42888298-42888298	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.552G>A; p.E184E; 13:42953959-42953959	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.968C>T; p.S323L; 13:42889223-42889223	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.888T>C; p.S296S; 13:42895069-42895069	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.154T>A; p.S52T; 13:42992012-42992012	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.969G>A; p.S323S; 13:42889222-42889222	skin	malignant_melanoma	Substitution - coding silent
c.902T>A; p.L301H; 13:42895055-42895055	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.314T>C; p.L105P; 13:42969111-42969111	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]