肺动脉高血压知识库(bioinfom_tsdb)
bioinfom_tsdb
肺动脉高血压知识库
一般信息|文学|表达式|监管|变体|交互

基本信息

基因身份证

563年

的名字

基因AZGP1

同义的

alpha-2-glycoprotein 1、锌结合;基因AZGP1 alpha-2-glycoprotein 1,锌结合

定义

Alpha-2-glycoprotein、锌| Zn-alpha2-glycoprotein | zinc-alpha-2-glycoprotein | zn-alpha-2-GP | zn-alpha-2-glycoprotein

位置

7 q22.1

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
我们使用从合奏BioMart uniprot蛋白质结构数据的数据库。圆的大小显示了相对变异数。

非同义(上)和(底部)同义突变比例对各种癌症

前
非同义突变模式在17个主要的癌症类型。
同义突变模式在17个主要的癌症类型。

损失函数的突变与错义突变

前
损失函数的突变比较错义突变。
丧失突变在错义突变的比例是0.10。

各种癌症的拷贝数变化

前
拷贝数变化的17个主要癌症组: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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.704T > G;p.I235S;7:99967196 - 99967196

 肝 癌 替换-错义

c.704T > G;p.I235S;7:99967196 - 99967196

 肝 癌 替换-错义

c.461G > C;p.W154S;7:99968307 - 99968307

 卵巢 癌;serous_carcinoma 替换-错义

c.548A > G;p.E183G;7:99968220 - 99968220

 large_intestine;结肠 癌;腺癌 替换-错义

c.163G > T;p.D55Y;7:99971920 - 99971920

 large_intestine;结肠 癌;腺癌 替换-错义

c.338-10delG;p。?。7:99968440 - 99968440

 NS malignant_melanoma 未知的

c.12G >;p.M4I;7:99976009 - 99976009

 胰腺 癌;acinar_carcinoma 替换-错义

c.386G >;p.R129K;7:99968382 - 99968382

 large_intestine;直肠 癌;腺癌 替换-错义

c.703delA;p.I235fs * > 64;7:99967197 - 99967197

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 删除——转移

c.99C >;p.I33I;7:99971984 - 99971984

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.378G > T;p.E126D;7:99968390 - 99968390

 large_intestine;结肠 癌;腺癌 替换-错义

c.359G >;p.R120K;7:99968409 - 99968409

 皮肤 malignant_melanoma 替换-错义

c.337G >;p.G113R;7:99971746 - 99971746

 肺 癌;squamous_cell_carcinoma 替换-错义

c.337G >;p.G113R;7:99971746 - 99971746

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.820G >;p.D274N;7:99967080 - 99967080

 large_intestine 癌;腺癌 替换-错义

c.18T > C;p.P6P;7:99976003 - 99976003

 乳房 癌 替换-编码沉默

c.175T > G;p.F59V;7:99971908 - 99971908

 肺 癌;腺癌 替换-错义

c.228G > T;p.Q76H;7:99971855 - 99971855

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.76 + 10 g > T;p。?。7:99975935 - 99975935

 卵巢 其他;肿瘤 未知的

c.260G >;p.S87N;7:99971823 - 99971823

 胃 癌;腺癌 替换-错义

c.91A > T;p.T31S;7:99971992 - 99971992

 甲状腺 其他;肿瘤 替换-错义

c.564G >;p.A188A;7:99968204 - 99968204

 皮肤 malignant_melanoma 替换-编码沉默

c.283G >;p.D95N;7:99971800 - 99971800

 皮肤 malignant_melanoma 替换-错义

c.80G >;p.R27H;7:99972003 - 99972003

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-错义

c.755G >;p.G252E;7:99967145 - 99967145

 皮肤 malignant_melanoma 替换-错义

c.33G >;p.L11L;7:99975988 - 99975988

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.137C > T;p.A46V;7:99971946 - 99971946

 卵巢 癌;serous_carcinoma 替换-错义

c.328G >;p.D110N;7:99971755 - 99971755

 large_intestine 癌;腺癌 替换-错义

c.297G > T;p.E99D;7:99971786 - 99971786

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.136G >;p.A46T;7:99971947 - 99971947

 large_intestine;结肠 癌;腺癌 替换-错义

c.362T > G;p.F121C;7:99968406 - 99968406

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.751C > T;p.R251W;7:99967149 - 99967149

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.874G > C;p.V292L;7:99967026 - 99967026

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-错义

c.336C > T;p.N112N;7:99971747 - 99971747

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.336C > T;p.N112N;7:99971747 - 99971747

 食道;lower_third 癌;腺癌 替换-编码沉默

c.16C > T;p.P6S;7:99976005 - 99976005

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.90G > C;p.L30L;7:99971993 - 99971993

 甲状腺 其他;肿瘤 替换-编码沉默

c.81T > G;p.R27R;7:99972002 - 99972002

 食管 癌;squamous_cell_carcinoma 替换-编码沉默

c.613 + 1 g >;p。?。7:99968154 - 99968154

 胃 癌;腺癌 未知的

c.613 + 1 g >;p。?。7:99968154 - 99968154

 胃 癌;腺癌 未知的

c.288C > G;p.I96M;7:99971795 - 99971795

 甲状腺 癌 替换-错义

c.725C > T;p.A242V;7:99967175 - 99967175

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.790T > G;p.S264A;7:99967110 - 99967110

 卵巢 癌;serous_carcinoma 替换-错义

c.533C > T;p.A178V;7:99968235 - 99968235

 乳房 癌 替换-错义

c.772G >;p.G258R;7:99967128 - 99967128

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.161A > T;p.N54I;7:99971922 - 99971922

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.397G > C;p.A133P;7:99968371 - 99968371

 large_intestine;直肠 癌;腺癌 替换-错义

c.327C > T;p.N109N;7:99971756 - 99971756

 食道;lower_third 癌;squamous_cell_carcinoma 替换-编码沉默

c.327C > T;p.N109N;7:99971756 - 99971756

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.621C >;p.P207P;7:99967279 - 99967279

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.582G >;p.L194L;7:99968186 - 99968186

 皮肤 malignant_melanoma 替换-编码沉默

c.397G >;p.A133T;7:99968371 - 99968371

 前列腺癌 癌 替换-错义

c.134C > T;p.P45L;7:99971949 - 99971949

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.164A > G;p.D55G;7:99971919 - 99971919

 large_intestine;直肠 癌;腺癌 替换-错义

c.721C > T;p.R241W;7:99967179 - 99967179

 皮肤 malignant_melanoma 替换-错义

c.418G >;p.D140N;7:99968350 - 99968350

 肺 癌;腺癌 替换-错义

c.418G >;p.D140N;7:99968350 - 99968350

 皮肤 malignant_melanoma 替换-错义

c.393C > T;p.S131S;7:99968375 - 99968375

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.393C > T;p.S131S;7:99968375 - 99968375

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.837C > T;p.S279S;7:99967063 - 99967063

 皮肤 malignant_melanoma 替换-编码沉默

c.832T > G;p.Y278D;7:99967068 - 99967068

 large_intestine;结肠 癌;腺癌 替换-错义

c.295G >;p.E99K;7:99971788 - 99971788

 皮肤 malignant_melanoma 替换-错义

c.761T >;p.V254D;7:99967139 - 99967139

 large_intestine 癌;腺癌 替换-错义

c.375C > T;p.I125I;7:99968393 - 99968393

 胃 癌;腺癌 替换-编码沉默

c.21C >;p.V7V;7:99976000 - 99976000

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.462G >;p.W154 *;7:99968306 - 99968306

 large_intestine;盲肠 癌;腺癌 替换-胡说

c.462G >;p.W154 *;7:99968306 - 99968306

 large_intestine;结肠 癌;腺癌 替换-胡说

c.341C > T;p.S114F;7:99968427 - 99968427

 皮肤 malignant_melanoma 替换-错义

c.319T > C;p.Y107H;7:99971764 - 99971764

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.292A > G;p.M98V;7:99971791 - 99971791

 central_nervous_system;颞顶 神经胶质瘤;astrocytoma_Grade_IV 替换-错义

c.23T >;p.L8Q;7:99975998 - 99975998

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.563C > T;p.A188V;7:99968205 - 99968205

 食管 癌 替换-错义

c.779G >;p.G260D;7:99967121 - 99967121

 食管 癌 替换-错义

c.294G >;p.M98I;7:99971789 - 99971789

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.61C >;p.Q21K;7:99975960 - 99975960

 肺 癌;腺癌 替换-错义

c.572G >;p.R191Q;7:99968196 - 99968196

 large_intestine 癌;腺癌 替换-错义

c.467C > T;p.P156L;7:99968301 - 99968301

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.394G > T;p.G132 *;7:99968374 - 99968374

 肺;right_upper_lobe 癌;腺癌 替换-胡说

c.757G > T;p.D253Y;7:99967143 - 99967143

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.571C > T;p.R191W;7:99968197 - 99968197

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-错义

c.697G >;p.G233R;7:99967203 - 99967203

 皮肤 malignant_melanoma 替换-错义

c.465C > T;p.V155V;7:99968303 - 99968303

 皮肤 malignant_melanoma 替换-编码沉默

c.131T >;p.V44D;7:99971952 - 99971952

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-错义

”)
Baidu