| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5015 |
Name | OTX2 |
Synonymous | CPHD6|MCOPS5;orthodenticle homeobox 2;OTX2;orthodenticle homeobox 2 |
Definition | homeobox protein OTX2|orthodenticle homolog 2 |
Position | 14q22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for OTX2 | ||
PCGP somatic mutation [Top] | ||
There is no record for OTX2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.17A>T; p.K6M; |
lung | carcinoma; small_cell_carcinoma |
c.733T>C; p.S245P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.444G>A; p.P148P; |
pancreas | carcinoma |
c.325C>G; p.Q109E; |
oesophagus | carcinoma; adenocarcinoma |
c.532T>C; p.C178R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.444G>A; p.P148P; |
pancreas | carcinoma; ductal_carcinoma |
c.702A>T; p.A234A; |
lung | carcinoma; adenocarcinoma |
c.891G>A; p.L297L; |
lung | carcinoma; adenocarcinoma |
c.597C>A; p.G199G; |
lung | carcinoma; adenocarcinoma |
c.137A>G; p.Q46R; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.437C>A; p.S146*; |
lung | carcinoma; adenocarcinoma |
c.492C>T; p.S164S; |
lung | carcinoma; adenocarcinoma |
c.326A>C; p.Q109P; 14:56338774-56338774 |
ovary | carcinoma; serous_carcinoma |
c.670G>A; p.G224R; |
lung | carcinoma; adenocarcinoma |
c.745C>A; p.Q249K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.891G>A; p.L297L; |
lung | carcinoma; adenocarcinoma |
c.747G>T; p.Q249H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.699T>C; p.N233N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.168G>A; p.A56A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.326A>G; p.Q109R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.130_131insC; p.R44fs*52; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14T>A; p.L5H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.326A>C; p.Q109P; 14:56338774-56338774 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.305G>A; p.R102H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.226C>T; p.R76*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.130delC; p.R44fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.326A>G; p.Q109R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.289C>T; p.R97*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.152C>T; p.T51M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.290G>A; p.R97Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.289C>T; p.R97*; |
breast | carcinoma |
c.348G>A; p.V116V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.156G>T; p.T52T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.788A>G; p.D263G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.222C>T; p.F74F; |
urinary_tract; bladder | carcinoma |
c.730G>C; p.A244P; |
prostate | carcinoma; adenocarcinoma |
c.85G>A; p.V29M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.118G>A; p.A40T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.644C>A; p.P215H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.130delC; p.R44fs*15; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.550C>T; p.P184S; |
urinary_tract; bladder | carcinoma |
c.565C>T; p.Q189*; |
breast | carcinoma |
c.754G>A; p.G252R; |
skin | malignant_melanoma |
c.803A>G; p.K268R; |
skin | malignant_melanoma |
c.59C>T; p.S20L; |
skin; neck | malignant_melanoma |
c.754G>A; p.G252R; |
skin | malignant_melanoma |
c.530C>T; p.S177F; |
skin; mucosal | malignant_melanoma |