| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 54940 |
Name | OCIAD1 |
Synonymous | OCIA domain containing 1;OCIAD1;OCIA domain containing 1 |
Definition | OCIA domain-containing protein 1|ovarian carcinoma immunoreactive antigen |
Position | 4p11 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.328C>T; p.L110F; 4:48850033-48850033 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>G; p.H179D; 4:48851963-48851963 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 4:48850067-48850067 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.440C>T; p.S147F; 4:48851868-48851868 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.431T>C; p.F144S; 4:48851859-48851859 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.547+4G>T; p.?; 4:48851979-48851979 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.494G>A; p.S165N; 4:48851922-48851922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.133T>C; p.F45L; 4:48833475-48833475 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.58C>T; p.H20Y; 4:48832682-48832682 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.139+1G>A; p.?; 4:48833482-48833482 |
breast | carcinoma | Unknown |
c.241C>T; p.L81F; 4:48848446-48848446 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.249T>C; p.C83C; 4:48849954-48849954 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.241C>T; p.L81F; 4:48848446-48848446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.191A>T; p.K64I; 4:48842687-48842687 |
skin | malignant_melanoma | Substitution - Missense |
c.61A>G; p.I21V; 4:48833403-48833403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310A>C; p.K104Q; 4:48850015-48850015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.323_324insC; p.L110fs*26; 4:48850028-48850029 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.671C>A; p.P224H; 4:48857336-48857336 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.242T>C; p.L81P; 4:48849947-48849947 |
skin | malignant_melanoma | Substitution - Missense |
c.392A>C; p.K131T; 4:48851820-48851820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.105C>T; p.F35F; 4:48833447-48833447 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.105C>T; p.F35F; 4:48833447-48833447 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.246T>C; p.A82A; 4:48849951-48849951 |
liver | carcinoma | Substitution - coding silent |
c.504G>A; p.M168I; 4:48851932-48851932 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.365C>G; p.S122C; 4:48850070-48850070 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>T; p.M1I; 4:48832627-48832627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.361C>T; p.R121*; 4:48850066-48850066 |
oesophagus | carcinoma | Substitution - Nonsense |
c.260A>G; p.Y87C; 4:48849965-48849965 |
lung; left_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.361C>T; p.R121*; 4:48850066-48850066 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.593C>G; p.T198R; 4:48857258-48857258 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.683G>C; p.R228T; 4:48857348-48857348 |
breast | carcinoma | Substitution - Missense |
c.124A>C; p.S42R; 4:48833466-48833466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.655G>A; p.D219N; 4:48857320-48857320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.244G>C; p.A82P; 4:48849949-48849949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.51A>G; p.P17P; 4:48832675-48832675 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.51A>G; p.P17P; 4:48832675-48832675 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.370C>T; p.P124S; 4:48850075-48850075 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.487C>T; p.P163S; 4:48851915-48851915 |
skin | malignant_melanoma | Substitution - Missense |
c.581_582insA; p.N196fs*5; 4:48857246-48857247 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.323C>T; p.S108F; 4:48850028-48850028 |
skin | malignant_melanoma | Substitution - Missense |
c.650A>G; p.K217R; 4:48857315-48857315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.23G>T; p.R8L; 4:48832647-48832647 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.520A>G; p.T174A; 4:48851948-48851948 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.690delA; p.E233fs*4; 4:48857355-48857355 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |