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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 139285 |
Name | FAM123B |
Synonymous | AMER1|OSCS|WTX;family with sequence similarity 123B;FAM123B;family with sequence similarity 123B |
Definition | Wilms tumor gene on the X chromosome protein|Wilms tumor on the X|adenomatous polyposis coli membrane recruitment 1|protein FAM123B |
Position | Xq11.2 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1891C>A; |
y; breast | carcinoma |
Substitution - coding silent; c.135C>T; 23:63329757-63329757 |
kidney | Wilms_tumour |
Substitution - coding silent; c.1225C>T; |
n; breast | HER-positive_carcinoma; carcinoma |
Substitution - coding silent; c.297G>T; 23:63329595-63329595 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.1386A>G; |
y; upper_aerodigestive_tract; mouth | squamous_cell_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.519_519delT; 23:63329373-63329373 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1050_1051delAG; 23:63328841-63328842 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.519_519delT; 23:63329373-63329373 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1648delC; 23:63328244-63328244 |
kidney | Wilms_tumour |
Deletion - Frameshift; c.1084delC; 23:63328808-63328808 |
kidney | Wilms_tumour |
Deletion - Frameshift; c.1069delA; 23:63328823-63328823 |
kidney | Wilms_tumour |
Deletion - Frameshift; c.1670_1671delAG; 23:63328221-63328222 |
kidney | Wilms_tumour |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | unilateral; Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63140625-63411003 |
large_intestine; colon | carcinoma |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63105547-63783289 |
ovary | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Complex - frameshift; c.233_234GC>T; 23:63329658-63329659 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | Wilms_tumour |
Whole gene deletion; c.1_2415del2415; 23:63322722-63329891 |
kidney | unilateral; Wilms_tumour |