| 一般信息|文学|表达式|监管|变体|交互 |
基本信息 |
|
|---|---|
基因身份证 |
8572年 |
的名字 |
PDLIM4 |
同义的 |
PDZ和LIM域4;PDLIM4 PDZ和LIM域4 |
定义 |
LIM域蛋白| LIM蛋白瑞来斯| PDZ和LIM域蛋白4 |谜同族体| reversion-induced LIM蛋白 |
位置 |
5 q31.1 |
基因型 |
蛋白质编码 |
突变简介: |
域的突变 在17个主要癌症突变模式 LoF vs错义突变 数据库V72宇宙的所有拷贝数变化 宇宙的所有突变数据库V72 |
突变总结蛋白质域 |
前 |
 |
非同义(上)和(底部)同义突变比例对各种癌症 |
前 |
 |
 |
损失函数的突变与错义突变 |
前 |
 |
| 丧失突变在错义突变的比例是0.24。 |
各种癌症的拷贝数变化 |
前 |
 |
拷贝数变化的17个主要的癌症类型:1;乳腺癌、2;中枢神经系统,3;子宫颈,4;子宫内膜,5;lymphoid_tissue造血,6;肾脏,7;大肠,8;肝脏,9;肺癌、10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
宇宙体细胞突变(最高) |
|||
突变(cd;AA;科) |
网站 |
组织学 |
突变类型 |
|---|---|---|---|
c.735G >;p.P245P;5:132271855 - 132271855 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.735G >;p.P245P;5:132271855 - 132271855 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.932A > T;p.K311M;5:132272168 - 132272168 |
乳房 | 癌 | 替换-错义 |
c.735G >;p.P245P;5:132271855 - 132271855 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.735G >;p.P245P;5:132271855 - 132271855 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-编码沉默 |
c.454G >;p.E152K;5:132271041 - 132271041 |
胃 | 癌;腺癌 | 替换-错义 |
c.412G > C;p.G138R;5:132270999 - 132270999 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.413G >;p.G138E;5:132271000 - 132271000 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.13G >;p.V5M;5:132257747 - 132257747 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.852C > T;p.C284C;5:132272088 - 132272088 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.341C >;p.T114K;5:132270928 - 132270928 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.930G >;p.V310V;5:132272166 - 132272166 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.425G >;p.R142H;5:132271012 - 132271012 |
胃 | 癌;腺癌 | 替换-错义 |
c.76C > T;p.P26S;5:132257810 - 132257810 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.541G > C;p.D181H;5:132271337 - 132271337 |
皮肤 | malignant_melanoma | 替换-错义 |
c.660C > T;p.A220A;5:132271456 - 132271456 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.219C > T;p.H73H;5:132262734 - 132262734 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.400G > T;p.G134 *;5:132270987 - 132270987 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.829G >;p.E277K;5:132272065 - 132272065 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.564C > G;p.S188S;5:132271360 - 132271360 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.563C > T;p.S188F;5:132271359 - 132271359 |
皮肤 | malignant_melanoma | 替换-错义 |
c.406delC;p.P136fs * 24;5:132270993 - 132270993 |
卵巢 | 癌;serous_carcinoma | 删除——转移 |
c.713C > T;p.T238M;5:132271833 - 132271833 |
胰腺 | 癌 | 替换-错义 |
c.529_530CC TT >;p.P177L;5:132271325 - 132271326 |
皮肤 | malignant_melanoma | 替换-错义 |
c.669C > T;p.G223G;5:132271465 - 132271465 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.245G > C;p.R82T;5:132262760 - 132262760 |
乳房 | 癌 | 替换-错义 |
c.300C > T;p.H100H;5:132266518 - 132266518 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-编码沉默 |
c.730G > C;p.A244P;5:132271850 - 132271850 |
胃 | 癌;腺癌 | 替换-错义 |
c.401G > C;p.G134A;5:132270988 - 132270988 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.469G > C;p.A157P;5:132271056 - 132271056 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.775G > T;p.G259C;5:132271895 - 132271895 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.600C > G;p.P200P;5:132271396 - 132271396 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-编码沉默 |
c.775G > T;p.G259C;5:132271895 - 132271895 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.775G > T;p.G259C;5:132271895 - 132271895 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.600C > G;p.P200P;5:132271396 - 132271396 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.600C > T;p.P200P;5:132271396 - 132271396 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.376C > T;p.P126S;5:132270963 - 132270963 |
胃 | 癌;腺癌 | 替换-错义 |
c.892G > T;p.E298 *;5:132272128 - 132272128 |
adrenal_gland;adrenal_gland | adrenal_cortical_carcinoma;功能 | 替换-胡说 |
c.924G >;p.A308A;5:132272160 - 132272160 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.681C > T;p.P227P;5:132271801 - 132271801 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.924G >;p.A308A;5:132272160 - 132272160 |
食管 | 癌;腺癌 | 替换-编码沉默 |
c.897G >;p.R299R;5:132272133 - 132272133 |
卵巢 | 癌;serous_carcinoma | 替换-编码沉默 |
c.680C > T;p.P227L;5:132271800 - 132271800 |
皮肤 | malignant_melanoma | 替换-错义 |
c.499delC;p.S169fs * 50;5:132271086 - 132271086 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.579G > T;p.M193I;5:132271375 - 132271375 |
adrenal_gland;adrenal_gland | adrenal_cortical_carcinoma;功能 | 替换-错义 |
c.729C > T;p.G243G;5:132271849 - 132271849 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.96C > T;p.V32V;5:132262611 - 132262611 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.348C > T;p.S116S;5:132270935 - 132270935 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.792C > T;p.G264G;5:132272028 - 132272028 |
甲状腺 | 其他;肿瘤 | 替换-编码沉默 |
c.792C > T;p.G264G;5:132272028 - 132272028 |
乳房 | 癌 | 替换-编码沉默 |
c.923C >;p.A308E;5:132272159 - 132272159 |
胃 | 癌;腺癌 | 替换-错义 |
c.678G >;p.W226 *;5:132271798 - 132271798 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.868C > T;p.Q290 *;5:132272104 - 132272104 |
胰腺 | 癌;ductal_carcinoma | 替换-胡说 |
c.406C > T;p.P136S;5:132270993 - 132270993 |
皮肤 | malignant_melanoma | 替换-错义 |
c.346A > T;p.S116C;5:132270933 - 132270933 |
肺 | 癌;腺癌 | 替换-错义 |