Entrez Gene

Basic Information
Gene ID	1869
Name	E2F1
Synonymous	E2F transcription factor 1;E2F1;E2F transcription factor 1
Definition	PBR3\|PRB-binding protein E2F-1\|RBAP-1\|RBBP-3\|retinoblastoma-associated protein 1\|retinoblastoma-binding protein 3\|transcription factor E2F1
Position	20q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.493C>T; p.R165W; 20:33679834-33679834	breast	carcinoma	Substitution - Missense
c.754C>T; p.R252C; 20:33677512-33677512	breast	carcinoma	Substitution - Missense
c.503A>G; p.Y168C; 20:33679824-33679824	breast	carcinoma	Substitution - Missense
c.361_362insT; p.S121fs*9; 20:33679965-33679966	breast	carcinoma	Insertion - Frameshift
c.357G>T; p.V119V; 20:33679970-33679970	breast	carcinoma	Substitution - coding silent
c.1254C>T; p.G418G; 20:33676792-33676792	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.884T>A; p.V295D; 20:33677287-33677287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.497G>A; p.R166H; 20:33679830-33679830	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.841-1G>T; p.?; 20:33677331-33677331	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.392C>G; p.S131*; 20:33679935-33679935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1239C>T; p.F413F; 20:33676807-33676807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.963G>T; p.E321D; 20:33677208-33677208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.838G>C; p.E280Q; 20:33677428-33677428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.896C>A; p.P299H; 20:33677275-33677275	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.494G>A; p.R165Q; 20:33679833-33679833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.430A>C; p.S144R; 20:33679897-33679897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.737T>C; p.V246A; 20:33677529-33677529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588A>T; p.T196T; 20:33678338-33678338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1131G>A; p.L377L; 20:33676915-33676915	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.562A>C; p.I188L; 20:33679765-33679765	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.412C>T; p.R138C; 20:33679915-33679915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>T; p.G418G; 20:33676792-33676792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1097G>A; p.R366Q; 20:33676949-33676949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.G420G; 20:33676786-33676786	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1110C>T; p.D370D; 20:33676936-33676936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.497G>A; p.R166H; 20:33679830-33679830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.V159M; 20:33679852-33679852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.514A>G; p.N172D; 20:33679813-33679813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>G; p.L231V; 20:33678235-33678235	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.345A>G; p.P115P; 20:33680333-33680333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221G>A; p.E407E; 20:33676825-33676825	liver	carcinoma	Substitution - coding silent
c.1221G>A; p.E407E; 20:33676825-33676825	liver	carcinoma	Substitution - coding silent
c.837G>A; p.S279S; 20:33677429-33677429	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1048C>G; p.L350V; 20:33677123-33677123	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>G; p.F437L; 20:33676735-33676735	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>A; p.D148N; 20:33679885-33679885	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 20:33678231-33678231	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1257G>T; p.E419D; 20:33676789-33676789	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.916A>G; p.I306V; 20:33677255-33677255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.989T>C; p.I330T; 20:33677182-33677182	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.494G>A; p.R165Q; 20:33679833-33679833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1246G>A; p.E416K; 20:33676800-33676800	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680G>T; p.C227F; 20:33678246-33678246	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1001C>T; p.P334L; 20:33677170-33677170	NS	malignant_melanoma	Substitution - Missense
c.935C>T; p.P312L; 20:33677236-33677236	NS	malignant_melanoma	Substitution - Missense
c.497G>A; p.R166H; 20:33679830-33679830	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.906C>T; p.T302T; 20:33677265-33677265	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.326G>A; p.R109Q; 20:33680352-33680352	pancreas	carcinoma	Substitution - Missense
c.1137G>T; p.A379A; 20:33676909-33676909	pancreas	carcinoma	Substitution - coding silent
c.380G>A; p.R127H; 20:33679947-33679947	prostate	carcinoma	Substitution - Missense
c.292C>T; p.H98Y; 20:33680386-33680386	skin	malignant_melanoma	Substitution - Missense
c.307G>T; p.E103*; 20:33680371-33680371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.819_820CC>TT; p.Q274*; 20:33677446-33677447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.565C>T; p.Q189*; 20:33679762-33679762	skin	malignant_melanoma	Substitution - Nonsense
c.1150C>T; p.L384L; 20:33676896-33676896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.880G>A; p.D294N; 20:33677291-33677291	skin	malignant_melanoma	Substitution - Missense
c.1165G>A; p.E389K; 20:33676881-33676881	skin	malignant_melanoma	Substitution - Missense
c.1036C>T; p.P346S; 20:33677135-33677135	skin	malignant_melanoma	Substitution - Missense
c.328G>A; p.G110S; 20:33680350-33680350	skin	malignant_melanoma	Substitution - Missense
c.1080C>T; p.S360S; 20:33676966-33676966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.362_363CC>TT; p.S121F; 20:33679964-33679965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037C>T; p.P346L; 20:33677134-33677134	skin	malignant_melanoma	Substitution - Missense
c.303G>T; p.L101L; 20:33680375-33680375	skin	malignant_melanoma	Substitution - coding silent
c.1303C>T; p.L435L; 20:33676743-33676743	skin	malignant_melanoma	Substitution - coding silent
c.1022C>T; p.S341F; 20:33677149-33677149	skin; mucosal	malignant_melanoma	Substitution - Missense
c.953C>T; p.S318F; 20:33677218-33677218	skin	malignant_melanoma	Substitution - Missense
c.362C>T; p.S121F; 20:33679965-33679965	skin	malignant_melanoma	Substitution - Missense
c.362C>T; p.S121F; 20:33679965-33679965	skin	malignant_melanoma	Substitution - Missense
c.362C>T; p.S121F; 20:33679965-33679965	skin; mucosal	malignant_melanoma	Substitution - Missense
c.632G>C; p.R211P; 20:33678294-33678294	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.880G>A; p.D294N; 20:33677291-33677291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1014C>A; p.P338P; 20:33677157-33677157	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.731C>T; p.A244V; 20:33677535-33677535	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.694C>T; p.R232C; 20:33678232-33678232	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.737T>C; p.V246A; 20:33677529-33677529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.L174F; 20:33679807-33679807	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.771T>C; p.P257P; 20:33677495-33677495	stomach	adenocarcinoma	Substitution - coding silent
c.754C>T; p.R252C; 20:33677512-33677512	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1087G>C; p.G363R; 20:33676959-33676959	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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