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

5468年

的名字

PPARG

同义的

过氧物酶体proliferator-activated受体γ,PPARG;过氧物酶体proliferator-activated受体γ

定义

|γ- ppar核受体亚科1 C组的成员3 |过氧物酶体proliferator-activated核受体γ1变种

位置

3 p25

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0.09。

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.254G >;p.R85K;3:12379875 - 12379875

 皮肤 malignant_melanoma 替换-错义

c.637A > G;p.M213V;3:12405899 - 12405899

 large_intestine;结肠 癌;腺癌 替换-错义

c.703G >;p.E235K;3:12405965 - 12405965

 皮肤 malignant_melanoma 替换-错义

c.1105A > T;p.I369L;3:12416989 - 12416989

 肝 癌 替换-错义

c.1105A > T;p.I369L;3:12416989 - 12416989

 肝 癌 替换-错义

c.686T > C;p.I229T;3:12405948 - 12405948

 肝 癌 替换-错义

c.686T > C;p.I229T;3:12405948 - 12405948

 肝 癌 替换-错义

c.1295A > C;p.K432T;3:12433922 - 12433922

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.946C > T;p.R316C;3:12416830 - 12416830

 皮肤 malignant_melanoma 替换-错义

c.669G >;p.A223A;3:12405931 - 12405931

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.669G >;p.A223A;3:12405931 - 12405931

 皮肤 malignant_melanoma 替换-编码沉默

c.1190A > G;p.E397G;3:12417074 - 12417074

 胃 癌;腺癌 替换-错义

c.553A > G;p.K185E;3:12392686 - 12392686

 肺;right_lower_lobe 癌;腺癌 替换-错义

c.3G >;p.M1I;3:12351595 - 12351595

 皮肤 malignant_melanoma 替换-错义

c.1114G >;p.G372S;3:12416998 - 12416998

 皮肤 malignant_melanoma 替换-错义

c.3G >;p.M1I;3:12351595 - 12351595

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1114G >;p.G372S;3:12416998 - 12416998

 皮肤 malignant_melanoma 替换-错义

c.1452C >;p.I484I;3:12434079 - 12434079

 肺 癌;腺癌 替换-编码沉默

c.1248T >;p.I416I;3:12417132 - 12417132

 肺 癌;腺癌 替换-编码沉默

c.1481A > C;p.H494P;3:12434108 - 12434108

 胰腺 癌 替换-错义

c.1104C > T;p.L368L;3:12416988 - 12416988

 皮肤 malignant_melanoma 替换-编码沉默

c.765G > T;p.P255P;3:12406027 - 12406027

 肺 癌;腺癌 替换-编码沉默

c.789G >;p.A263A;3:12406051 - 12406051

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.845C > T;p.S282F;3:12416729 - 12416729

 皮肤 malignant_melanoma 替换-错义

c.845C > T;p.S282F;3:12416729 - 12416729

 皮肤 malignant_melanoma 替换-错义

c.746C > T;p.S249L;3:12406008 - 12406008

 肾脏 其他;肿瘤 替换-错义

c.290T > G;p.L97R;3:12379911 - 12379911

 乳房 癌;ductal_carcinoma 替换-错义

c.179T > G;p.F60C;3:12379800 - 12379800

 皮肤 malignant_melanoma 替换-错义

c.448C > T;p.H150Y;3:12381459 - 12381459

 皮肤;的脸 癌;squamous_cell_carcinoma 替换-错义

c.998G >;p.G333D;3:12416882 - 12416882

 皮肤 malignant_melanoma 替换-错义

c.1484C > G;p.P495R;3:12434111 - 12434111

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1460C > T;p.T487M;3:12434087 - 12434087

 胃 腺癌 替换-错义

c.605G >;p.G202E;3:12392738 - 12392738

 皮肤 malignant_melanoma 替换-错义

c.491G >;p.R164Q;3:12392624 - 12392624

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.550delA;p.S186fs * 47;3:12392683 - 12392683

 large_intestine;盲肠 癌;腺癌 删除——转移

c.550delA;p.S186fs * 47;3:12392683 - 12392683

 large_intestine;结肠 癌;腺癌 删除——转移

c.657G >;p.E219E;3:12405919 - 12405919

 皮肤 malignant_melanoma 替换-编码沉默

c.186C > T;p.I62I;3:12379807 - 12379807

 皮肤 malignant_melanoma 替换-编码沉默

c.11C > G;p.T4S;3:12351603 - 12351603

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.641C > T;p.P214L;3:12405903 - 12405903

 皮肤 malignant_melanoma 替换-错义

c.1059C > T;p.I353I;3:12416943 - 12416943

 皮肤 malignant_melanoma 替换-编码沉默

c.77C > T;p.S26L;3:12351669 - 12351669

 皮肤 malignant_melanoma 替换-错义

c.783G > C;p.A261A;3:12406045 - 12406045

 urinary_tract;膀胱 癌 替换-编码沉默

c.1054G >;p.E352K;3:12416938 - 12416938

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.75A > T;p.I25I;3:12351667 - 12351667

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1348A > C;p.K450Q;3:12433975 - 12433975

 large_intestine 癌;腺癌 替换-错义

c.1348A > C;p.K450Q;3:12433975 - 12433975

 large_intestine 癌;腺癌 替换-错义

c.1348A > C;p.K450Q;3:12433975 - 12433975

 large_intestine;结肠 癌 替换-错义

c.1348A > C;p.K450Q;3:12433975 - 12433975

 large_intestine 癌;腺癌 替换-错义

c.1402A > G;p.T468A;3:12434029 - 12434029

 前列腺癌 癌;腺癌 替换-错义

c.37G > T;p.E13 *;3:12351629 - 12351629

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.922C > T;p.R308C;3:12416806 - 12416806

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma 替换-错义

c.922C > T;p.R308C;3:12416806 - 12416806

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.109C > T;p.P37S;3:12379730 - 12379730

 皮肤 malignant_melanoma 替换-错义

c.109C > T;p.P37S;3:12379730 - 12379730

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1067C >;p.T356K;3:12416951 - 12416951

 肺 癌;腺癌 替换-错义

c.1230C > T;p.S410S;3:12417114 - 12417114

 central_nervous_system;大脑 神经胶质瘤 替换-编码沉默

c.1480C > T;p.H494Y;3:12434107 - 12434107

 urinary_tract;膀胱 癌 替换-错义

c.327G >;p.E109E;3:12381338 - 12381338

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.398_399CC TT >;p.S133F;3:12381409 - 12381410

 皮肤 malignant_melanoma 替换-错义

c.1095T > C;p.D365D;3:12416979 - 12416979

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.298C > T;p.Q100 *;3:12379919 - 12379919

 皮肤 malignant_melanoma 替换-胡说

c.1094A > G;p.D365G;3:12416978 - 12416978

 large_intestine;盲肠 癌;腺癌 替换-错义

c.399C > T;p.S133S;3:12381410 - 12381410

 皮肤 malignant_melanoma 替换-编码沉默

c.668C > T;p.A223V;3:12405930 - 12405930

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.668C > T;p.A223V;3:12405930 - 12405930

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

c.668C > T;p.A223V;3:12405930 - 12405930

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

c.556A > G;p.S186G;3:12392689 - 12392689

 large_intestine;结肠 癌;腺癌 替换-错义

c.556A > G;p.S186G;3:12392689 - 12392689

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.556A > G;p.S186G;3:12392689 - 12392689

 胃 腺癌 替换-错义

c.724C > G;p.L242V;3:12405986 - 12405986

 乳房 癌 替换-错义

c.724C > G;p.L242V;3:12405986 - 12405986

 乳房 癌 替换-错义

c.882C > T;p.H294H;3:12416766 - 12416766

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.168C > G;p.H56Q;3:12379789 - 12379789

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.532C >;p.L178I;3:12392665 - 12392665

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.176C > T;p.S59F;3:12379797 - 12379797

 皮肤;粘膜 malignant_melanoma 替换-错义

c.455G >;p.G152E;3:12381466 - 12381466

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.480 + 7菲律宾人质;p。?。3:12381498 - 12381498

 NS malignant_melanoma 未知的

c.303G >;p.E101E;3:12379924 - 12379924

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.887delC;p.L298fs * 38岁;3:12416771 - 12416771

 large_intestine;结肠 癌;腺癌 删除——转移

c.887delC;p.L298fs * 38岁;3:12416771 - 12416771

 large_intestine;结肠 癌;腺癌 删除——转移

c.648C >;p.A216A;3:12405910 - 12405910

 urinary_tract;膀胱 癌 替换-编码沉默

c.1270 + 1 g >;p。?。3:12417155 - 12417155

 皮肤 malignant_melanoma 未知的

c.1477C > T;p.L493F;3:12434104 - 12434104

 large_intestine;结肠 癌;腺癌 替换-错义

c.1154G >;p.R385Q;3:12417038 - 12417038

 皮肤 malignant_melanoma 替换-错义

c.682G > T;p.D228Y;3:12405944 - 12405944

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1515C > G;p.Y505 *;3:12434142 - 12434142

 卵巢 其他;肿瘤 替换-胡说

c.1515C > G;p.Y505 *;3:12434142 - 12434142

 卵巢 其他;肿瘤 替换-胡说

c.1515C > G;p.Y505 *;3:12434142 - 12434142

 卵巢 其他;肿瘤 替换-胡说

c.1515C > G;p.Y505 *;3:12434142 - 12434142

 卵巢 其他;肿瘤 替换-胡说

c.169T >;p.S57T;3:12379790 - 12379790

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.235G >;p.E79K;3:12379856 - 12379856

 乳房 癌 替换-错义

c.1431C > T;p.H477H;3:12434058 - 12434058

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.1431C > T;p.H477H;3:12434058 - 12434058

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.870C > G;p.I290M;3:12416754 - 12416754

 urinary_tract;膀胱 癌 替换-错义

c.177C >;p.S59S;3:12379798 - 12379798

 胃 癌;腺癌 替换-编码沉默

c.672G >;p.E224E;3:12405934 - 12405934

 皮肤 malignant_melanoma 替换-编码沉默

c.262C > G;p.P88A;3:12379883 - 12379883

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.1413A > G;p.R471R;3:12434040 - 12434040

 胃 癌;腺癌 替换-编码沉默

c.940C > G;p.Q314E;3:12416824 - 12416824

 urinary_tract;膀胱 癌 替换-错义

c.940C > G;p.Q314E;3:12416824 - 12416824

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.7G >;p.E3K;3:12351599 - 12351599

 urinary_tract;膀胱 癌 替换-错义

c.7G >;p.E3K;3:12351599 - 12351599

 肺 癌;腺癌 替换-错义

c.7G >;p.E3K;3:12351599 - 12351599

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.1462G >;p.E488K;3:12434089 - 12434089

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.419G >;p.R140H;3:12381430 - 12381430

 胃 癌;腺癌 替换-错义

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