| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1869 |
Name | E2F1 |
Synonymous | E2F-1|RBAP1|RBBP3|RBP3;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 |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for E2F1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
E2F1_R211P; chr20; 32266100 |
SUB; MISSENSE; C; C/G; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.906C>T; p.T302T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1221G>A; p.E407E; |
liver | carcinoma |
c.754C>T; p.R252C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.562A>C; p.I188L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.837G>A; p.S279S; |
lung | carcinoma; adenocarcinoma |
c.1048C>G; p.L350V; |
lung | carcinoma; adenocarcinoma |
c.935C>T; p.P312L; |
NS | malignant_melanoma |
c.1001C>T; p.P334L; |
NS | malignant_melanoma |
c.380G>A; p.R127H; |
prostate | carcinoma |
c.695G>A; p.R232H; |
lung | carcinoma; small_cell_carcinoma |
c.989T>C; p.I330T; |
lung | carcinoma; small_cell_carcinoma |
c.916A>G; p.I306V; |
lung | carcinoma; adenocarcinoma |
c.442G>A; p.D148N; |
lung | carcinoma; squamous_cell_carcinoma |
c.680G>T; p.C227F; |
lung | carcinoma; squamous_cell_carcinoma |
c.494G>A; p.R165Q; |
lung | carcinoma; adenocarcinoma |
c.1311C>G; p.F437L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.503A>G; p.Y168C; |
breast | carcinoma |
c.1254C>T; p.G418G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.430A>C; p.S144R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.841-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.392C>G; p.S131*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.963G>T; p.E321D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.884T>A; p.V295D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.494G>A; p.R165Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.896C>A; p.P299H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1254C>T; p.G418G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.497G>A; p.R166H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.737T>C; p.V246A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.588A>T; p.T196T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1239C>T; p.F413F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.838G>C; p.E280Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.361_362insT; p.S121fs*9; |
breast | carcinoma |
c.754C>T; p.R252C; |
breast | carcinoma |
c.1087G>C; p.G363R; |
urinary_tract; bladder | carcinoma |
c.493C>T; p.R165W; |
breast | carcinoma |
c.362C>T; p.S121F; |
skin | malignant_melanoma |
c.362C>T; p.S121F; |
skin | malignant_melanoma |
c.953C>T; p.S318F; |
skin | malignant_melanoma |
c.362C>T; p.S121F; |
skin; mucosal | malignant_melanoma |
c.1022C>T; p.S341F; |
skin; mucosal | malignant_melanoma |
c.771T>C; p.P257P; |
stomach | adenocarcinoma |