Entrez Gene

Basic Information
Gene ID	54845
Name	ESRP1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.202A>G; p.T68A; 8:94642025-94642025	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.165G>A; p.P55P; 8:94641988-94641988	skin	malignant_melanoma	Substitution - coding silent
c.274G>A; p.V92M; 8:94643315-94643315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1233G>C; p.Q411H; 8:94668250-94668250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.23_25delTGG; p.V10delV; 8:94641341-94641343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1008G>A; p.T336T; 8:94668025-94668025	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1157C>T; p.A386V; 8:94668174-94668174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1157C>T; p.A386V; 8:94668174-94668174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.123C>T; p.A41A; 8:94641441-94641441	skin	malignant_melanoma	Substitution - coding silent
c.1167G>C; p.K389N; 8:94668184-94668184	oesophagus	carcinoma	Substitution - Missense
c.1194C>A; p.Y398*; 8:94668211-94668211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1244G>A; p.R415Q; 8:94671463-94671463	skin	malignant_melanoma	Substitution - Missense
c.870G>T; p.M290I; 8:94665041-94665041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.710C>T; p.S237L; 8:94664762-94664762	skin	malignant_melanoma	Substitution - Missense
c.419G>A; p.R140Q; 8:94646211-94646211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1681G>C; p.V561L; 8:94678244-94678244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1008G>T; p.T336T; 8:94668025-94668025	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.523C>T; p.R175*; 8:94662304-94662304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.799_800GG>AA; p.G267K; 8:94664970-94664971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1126C>T; p.L376F; 8:94668143-94668143	skin	malignant_melanoma	Substitution - Missense
c.1558G>T; p.V520F; 8:94674413-94674413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.A469T; 8:94671624-94671624	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1837T>C; p.Y613H; 8:94692705-94692705	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.399C>A; p.F133L; 8:94646191-94646191	urinary_tract; bladder	carcinoma	Substitution - Missense
c.24G>T; p.L8F; 8:94641342-94641342	skin	malignant_melanoma	Substitution - Missense
c.897A>T; p.K299N; 8:94665162-94665162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1957C>A; p.Q653K; 8:94692825-94692825	skin	malignant_melanoma	Substitution - Missense
c.833A>G; p.H278R; 8:94665004-94665004	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.702G>A; p.W234*; 8:94664754-94664754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.702G>A; p.W234*; 8:94664754-94664754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.240G>A; p.Q80Q; 8:94642063-94642063	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1098T>A; p.D366E; 8:94668115-94668115	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 8:94668086-94668086	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 8:94668086-94668086	skin	malignant_melanoma	Substitution - Missense
c.47C>T; p.A16V; 8:94641365-94641365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1616G>A; p.R539Q; 8:94674471-94674471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.790C>T; p.R264*; 8:94664961-94664961	skin	malignant_melanoma	Substitution - Nonsense
c.1616G>A; p.R539Q; 8:94674471-94674471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524G>A; p.R175Q; 8:94662305-94662305	skin	malignant_melanoma	Substitution - Missense
c.283G>T; p.E95*; 8:94643324-94643324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017G>T; p.E673*; 8:94696909-94696909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1140G>C; p.E380D; 8:94668157-94668157	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.118C>T; p.L40L; 8:94641436-94641436	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1117G>A; p.A373T; 8:94668134-94668134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>A; p.A373T; 8:94668134-94668134	central_nervous_system; brain	glioma	Substitution - Missense
c.985C>T; p.R329C; 8:94668002-94668002	skin	malignant_melanoma	Substitution - Missense
c.1007C>T; p.T336M; 8:94668024-94668024	bone; pelvis	chondrosarcoma	Substitution - Missense
c.471C>T; p.D157D; 8:94646263-94646263	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1552G>T; p.V518F; 8:94674407-94674407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.471C>T; p.D157D; 8:94646263-94646263	breast	carcinoma	Substitution - coding silent
c.1253C>T; p.S418L; 8:94671472-94671472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>C; p.E142Q; 8:94646216-94646216	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>C; p.V328L; 8:94667999-94667999	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.915C>T; p.F305F; 8:94665180-94665180	skin	malignant_melanoma	Substitution - coding silent
c.868A>T; p.M290L; 8:94665039-94665039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>A; p.A585T; 8:94678316-94678316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1419T>C; p.R473R; 8:94671638-94671638	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1806C>A; p.P602P; 8:94678369-94678369	skin	malignant_melanoma	Substitution - coding silent
c.1243C>T; p.R415*; 8:94671462-94671462	skin	malignant_melanoma	Substitution - Nonsense
c.1628C>T; p.S543F; 8:94674483-94674483	skin	malignant_melanoma	Substitution - Missense
c.1535A>C; p.N512T; 8:94674390-94674390	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1714T>C; p.S572P; 8:94678277-94678277	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>C; p.D71H; 8:94642034-94642034	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.775C>G; p.L259V; 8:94664946-94664946	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1797G>T; p.A599A; 8:94678360-94678360	breast	carcinoma	Substitution - coding silent
c.1600G>A; p.G534R; 8:94674455-94674455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>T; p.E142*; 8:94646216-94646216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1506T>A; p.F502L; 8:94674361-94674361	skin	malignant_melanoma	Substitution - Missense
c.414T>A; p.D138E; 8:94646206-94646206	liver	carcinoma	Substitution - Missense
c.1743G>A; p.Q581Q; 8:94678306-94678306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1863C>T; p.S621S; 8:94692731-94692731	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1615C>T; p.R539*; 8:94674470-94674470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1615C>T; p.R539*; 8:94674470-94674470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1386G>T; p.L462L; 8:94671605-94671605	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.710C>G; p.S237*; 8:94664762-94664762	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.688C>T; p.R230*; 8:94664740-94664740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.986G>A; p.R329H; 8:94668003-94668003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>T; p.S552F; 8:94678218-94678218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1527_1528insA; p.N512fs*8; 8:94674382-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1990A>C; p.N664H; 8:94696882-94696882	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.449C>T; p.S150L; 8:94646241-94646241	skin	malignant_melanoma	Substitution - Missense
c.1696G>A; p.A566T; 8:94678259-94678259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.R140*; 8:94646210-94646210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.443C>A; p.P148H; 8:94646235-94646235	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.692G>A; p.G231D; 8:94664744-94664744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.433A>G; p.K145E; 8:94646225-94646225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.E50K; 8:94641971-94641971	breast	carcinoma	Substitution - Missense
c.1760A>G; p.Y587C; 8:94678323-94678323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.129G>A; p.K43K; 8:94641447-94641447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1315C>T; p.P439S; 8:94671534-94671534	thyroid	carcinoma	Substitution - Missense
c.644+1G>A; p.?; 8:94662556-94662556	urinary_tract; bladder	carcinoma	Unknown
c.169C>G; p.Q57E; 8:94641992-94641992	NS	NS	Substitution - Missense
c.1522T>C; p.C508R; 8:94674377-94674377	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1657_1664delTACACATT; p.Y553fs*54; 8:94678220-94678227	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.1112G>A; p.G371E; 8:94668129-94668129	skin	malignant_melanoma	Substitution - Missense
c.984C>T; p.V328V; 8:94668001-94668001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>T; p.V328V; 8:94668001-94668001	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.984C>T; p.V328V; 8:94668001-94668001	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1423C>T; p.H475Y; 8:94671642-94671642	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.991C>T; p.R331W; 8:94668008-94668008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.878G>A; p.R293Q; 8:94665049-94665049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563T>G; p.I188S; 8:94662344-94662344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.992G>A; p.R331Q; 8:94668009-94668009	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>T; p.T656I; 8:94696859-94696859	skin	malignant_melanoma	Substitution - Missense
c.1456C>T; p.R486C; 8:94674311-94674311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.G451S; 8:94671570-94671570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.H49H; 8:94641970-94641970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.230C>G; p.S77W; 8:94642053-94642053	breast	carcinoma	Substitution - Missense
c.254T>A; p.L85H; 8:94642077-94642077	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.341T>C; p.V114A; 8:94643382-94643382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490T>C; p.Y164H; 8:94646282-94646282	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417C>T; p.R473C; 8:94671636-94671636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 8:94696861-94696861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1426G>A; p.G476R; 8:94671645-94671645	skin	malignant_melanoma	Substitution - Missense
c.1969G>A; p.E657K; 8:94696861-94696861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1173A>C; p.K391N; 8:94668190-94668190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.495A>G; p.L165L; 8:94662276-94662276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528_1529delAA; p.N512fs*7; 8:94674383-94674384	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.732C>A; p.F244L; 8:94664784-94664784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>T; p.G332W; 8:94668011-94668011	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1788T>C; p.N596N; 8:94678351-94678351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1788T>C; p.N596N; 8:94678351-94678351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1404C>T; p.F468F; 8:94671623-94671623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447C>T; p.H483Y; 8:94671666-94671666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966G>A; p.K322K; 8:94667983-94667983	skin	malignant_melanoma	Substitution - coding silent
c.887A>T; p.E296V; 8:94665058-94665058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1348C>T; p.R450*; 8:94671567-94671567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1357C>T; p.P453S; 8:94671576-94671576	skin	malignant_melanoma	Substitution - Missense
c.951C>T; p.A317A; 8:94667968-94667968	skin	malignant_melanoma	Substitution - coding silent
c.1700C>T; p.A567V; 8:94678263-94678263	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>G; p.T564A; 8:94678253-94678253	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1152G>C; p.Q384H; 8:94668169-94668169	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.93C>T; p.I31I; 8:94641411-94641411	liver	carcinoma	Substitution - coding silent
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.93C>T; p.I31I; 8:94641411-94641411	liver	carcinoma	Substitution - coding silent
c.1528delA; p.N512fs*2; 8:94674383-94674383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.842T>C; p.L281P; 8:94665013-94665013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.29T>A; p.V10E; 8:94641347-94641347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1263C>T; p.L421L; 8:94671482-94671482	skin	malignant_melanoma	Substitution - coding silent
c.1000C>T; p.P334S; 8:94668017-94668017	skin	malignant_melanoma	Substitution - Missense
c.1989A>G; p.T663T; 8:94696881-94696881	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>T; p.D138Y; 8:94646204-94646204	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1733G>A; p.R578Q; 8:94678296-94678296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database