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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 8312 |
Name | AXIN1 |
Synonymous | AXIN|PPP1R49;axin 1;AXIN1;axin 1 |
Definition | axin-1|axis inhibition protein 1|axis inhibitor 1|fused, mouse, homolog of|protein phosphatase 1, regulatory subunit 49 |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1605C>A; 16:287902-287902 |
liver | hepatoblastoma; other |
Substitution - coding silent; c.2118G>A; |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.828T>C; 16:336199-336199 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.1464G>T; 16:288043-288043 |
upper_aerodigestive_tract; mouth | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1500C>T; 16:288007-288007 |
skin | Merkel_cell_carcinoma; carcinoma |
Substitution - coding silent; c.396G>A; 16:336631-336631 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.1359C>T; 16:288148-288148 |
skin | Merkel_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1359C>T; 16:288148-288148 |
skin | Merkel_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1284G>A; 16:288223-288223 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |
Substitution - coding silent; c.768C>T; 16:336259-336259 |
large_intestine | adenocarcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.991_991delG; 16:304572-304572 |
stomach | intestinal_adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1183_1186delCGCC; 16:294373-294376 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.(1327_1353)del25; 16:288180-288180 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.1741_1742delAG; 16:287765-287766 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.991_991delG; 16:304572-304572 |
stomach | diffuse_adenocarcinoma; carcinoma |
Deletion - Frameshift; c.991_991delG; 16:304572-304572 |
stomach | diffuse_adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1836_1836delG; 16:287176-287176 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.(1156_1167)del5; 16:294403-294403 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.1116_1116delC; 16:299974-299974 |
central_nervous_system; cerebellum | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.248_248delT; 16:336779-336779 |
biliary_tract; bile_duct | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.865_865delG; 16:336162-336162 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.(1036-1050)del13; 16:300054-300054 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.2479_2479delG; 16:278233-278233 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.(1450-1464)del13; 16:288057-288057 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.964_964delG; 16:304599-304599 |
liver | hepatocellular_carcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_2589del2589; |
liver | hepatocellular_carcinoma; carcinoma |