| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2019 |
Name | EN1 |
Synonymous | -;engrailed homeobox 1;EN1;engrailed homeobox 1 |
Definition | engrailed homolog 1|homeobox protein en-1|homeobox protein engrailed-1|hu-En-1 |
Position | 2q14.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EN1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EN1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.208C>T; p.H70Y; |
NS | malignant_melanoma |
c.1088G>A; p.G363D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.609_644del36; p.A204_A215del; 2:119320570-119320605 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1176G>A; p.E392E; |
oesophagus | carcinoma; adenocarcinoma |
c.861C>T; p.S287S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.489G>A; p.A163A; |
oesophagus | carcinoma; adenocarcinoma |
c.480C>A; p.G160G; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1168G>A; p.E390K; |
large_intestine; colon | carcinoma |
c.1153G>A; p.V385I; |
skin; leg | malignant_melanoma |
c.1005C>G; p.T335T; |
lung | carcinoma; adenocarcinoma |
c.1059C>A; p.N353K; |
lung | carcinoma; adenocarcinoma |
c.994C>T; p.R332W; |
lung | carcinoma; adenocarcinoma |
c.997C>A; p.R333R; |
lung | carcinoma; adenocarcinoma |
c.413G>C; p.G138A; 2:119320801-119320801 |
lung | carcinoma; small_cell_carcinoma |
c.396C>A; p.A132A; |
lung | carcinoma; squamous_cell_carcinoma |
c.808C>G; p.L270V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.699G>A; p.G233G; |
lung | carcinoma; adenocarcinoma |
c.907G>C; p.D303H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1080A>T; p.K360N; |
lung | carcinoma; adenocarcinoma |
c.936C>T; p.A312A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1063C>T; p.R355C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1064G>A; p.R355H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.317delT; p.F106fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1066G>A; p.A356T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1125G>T; p.Q375H; |
breast | carcinoma |
c.950G>T; p.R317I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.914G>A; p.R305Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.964T>C; p.F322L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1106C>T; p.A369V; |
breast | carcinoma |
c.503C>T; p.S168L; |
urinary_tract; bladder | carcinoma |
c.1036C>T; p.Q346*; |
skin | malignant_melanoma |
c.1034C>G; p.S345C; |
skin | malignant_melanoma |
c.83G>T; p.S28I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |