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

5071年

的名字

PARK2

同义的

帕金RBR E3泛素蛋白连接酶;PARK2帕金RBR E3泛素蛋白连接酶

定义

E3 ubiquitin-protein连接酶帕金|帕金森病(常染色体隐性,少年)2、帕金|帕金森青少年疾病蛋白质2 |帕金森2,E3泛素蛋白连接酶(帕金)

位置

6 q25.2-q27

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.1372A > C;p.M458L;6:161350125 - 161350125

 urinary_tract;膀胱 癌 替换-错义

c.82G >;p.E28K;6:162443399 - 162443399

 皮肤 malignant_melanoma 替换-错义

c.1329C > T;p.L443L;6:161350168 - 161350168

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.1329C > T;p.L443L;6:161350168 - 161350168

 皮肤 malignant_melanoma 替换-编码沉默

c.964G > T;p.E322 *;6:161548973 - 161548973

 肺;right_upper_lobe 癌;腺癌 替换-胡说

c.1353C > T;p.C451C;6:161350144 - 161350144

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.848T > G;p.L283R;6:161785795 - 161785795

 胃 癌;腺癌 替换-错义

c.1346G > T;p.C449F;6:161350151 - 161350151

 肺 癌;腺癌 替换-错义

c.37T > G;p.F13V;6:162443444 - 162443444

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1041G > T;p.Q347H;6:161548896 - 161548896

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1256C > T;p.P419L;6:161360117 - 161360117

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.880C > T;p.P294S;6:161569408 - 161569408

 large_intestine;结肠 癌;腺癌 替换-错义

c.685A > T;p.I229F;6:161973351 - 161973351

 肺 癌;squamous_cell_carcinoma 替换-错义

c.685A > T;p.I229F;6:161973351 - 161973351

 large_intestine;结肠 癌 替换-错义

c.1183G >;p.E395K;6:161360190 - 161360190

 乳房 癌 替换-错义

c.685A > T;p.I229F;6:161973351 - 161973351

 large_intestine 癌;腺癌 替换-错义

c.81G >;p.K27K;6:162443400 - 162443400

 肾脏 癌;papillary_renal_cell_carcinoma 替换-编码沉默

c.599A > C;p.H200P;6:162054110 - 162054110

 肺 癌;squamous_cell_carcinoma 替换-错义

c.978G > T;p.Q326H;6:161548959 - 161548959

 前列腺癌 癌;腺癌 替换-错义

c.891G >;p.L297L;6:161569397 - 161569397

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.449G > T;p.C150F;6:162201216 - 162201216

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1312C >;p.Q438K;6:161350185 - 161350185

 食管 癌 替换-错义

c.619G >;p.E207K;6:161973417 - 161973417

 皮肤 malignant_melanoma 替换-错义

c.627C >;p.F209L;6:161973409 - 161973409

 large_intestine;结肠 癌;腺癌 替换-错义

c.137C >;p.A46E;6:162443344 - 162443344

 large_intestine;直肠 癌;腺癌 替换-错义

c.384G >;p.R128R;6:162262553 - 162262553

 皮肤 malignant_melanoma 替换-编码沉默

c.858C > T;p.S286S;6:161785785 - 161785785

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.40C > T;p.P14S;6:162443441 - 162443441

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.824G > C;p.R275P;6:161785819 - 161785819

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.986_987insG;p.V330fs * 17;6:161548950 - 161548951

 large_intestine;盲肠 癌;腺癌 插入——转移

c.899A > G;p.E300G;6:161569389 - 161569389

 肺 癌;squamous_cell_carcinoma 替换-错义

c.755A > G;p.Q252R;6:161785888 - 161785888

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 替换-错义

c.1285 + 1 g > T;p。?。6:161360087 - 161360087

 肺 癌;腺癌 未知的

c.1116C >;p.Y372 *;6:161386845 - 161386845

 large_intestine 癌;腺癌 替换-胡说

c.1220C > G;p.S407C;6:161360153 - 161360153

 large_intestine;结肠 癌;腺癌 替换-错义

c.535-1G > T;p。?。6:162054175 - 162054175

 肺 癌;腺癌 未知的

c.291G > T;p.R97R;6:162262646 - 162262646

 肺;right_lower_lobe 癌;腺癌 替换-编码沉默

c.881C > T;p.P294L;6:161569407 - 161569407

 皮肤 malignant_melanoma 替换-错义

c.970G > T;p.V324F;6:161548967 - 161548967

 乳房 癌 替换-错义

c.694A > C;p.N232H;6:161973342 - 161973342

 large_intestine;结肠 癌;腺癌 替换-错义

c.892A > T;p.I298F;6:161569396 - 161569396

 胃 癌;腺癌 替换-错义

c.434G >;p.S145N;6:162201231 - 162201231

 皮肤 malignant_melanoma 替换-错义

c.1258C > T;p.R420C;6:161360115 - 161360115

 large_intestine;结肠 癌;腺癌 替换-错义

c.1036G >;p.D346N;6:161548901 - 161548901

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1004C > T;p.P335L;6:161548933 - 161548933

 皮肤 malignant_melanoma 替换-错义

c.251_252insT;p.G85fs * 12;6:162262685 - 162262686

 large_intestine 癌;腺癌 插入——转移

c.1192G >;p.A398T;6:161360181 - 161360181

 large_intestine;结肠 癌;腺癌 替换-错义

c.1382A > G;p.H461R;6:161350115 - 161350115

 large_intestine;结肠 癌;腺癌 替换-错义

c.985G >;p.G329S;6:161548952 - 161548952

 骨;股骨 软骨肉瘤 替换-错义

c.1269A > G;p.V423V;6:161360104 - 161360104

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.824G > T;p.R275L;6:161785819 - 161785819

 biliary_tract;bile_duct 癌;腺癌 替换-错义

c.412 + 2 t >;p。?。6:162262523 - 162262523

 肺 癌;squamous_cell_carcinoma 未知的

c.561A > C;p.L187F;6:162054148 - 162054148

 large_intestine;结肠 癌;腺癌 替换-错义

c.65G > T;p.S22I;6:162443416 - 162443416

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1041G > C;p.Q347H;6:161548896 - 161548896

 乳房 癌 替换-错义

c.1164T > G;p.T388T;6:161386797 - 161386797

 食管 癌;腺癌 替换-编码沉默

c.1017G >;p.A339A;6:161548920 - 161548920

 肺 癌;small_cell_carcinoma 替换-编码沉默

c.276G >;p.A92A;6:162262661 - 162262661

 large_intestine;盲肠 腺瘤 替换-编码沉默

c.1111G >;p.A371T;6:161386850 - 161386850

 皮肤 malignant_melanoma 替换-错义

c.603C > T;p.C201C;6:162054106 - 162054106

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.130A > C;p.I44L;6:162443351 - 162443351

 large_intestine;结肠 癌;腺癌 替换-错义

c.283T >;p.C95S;6:162262654 - 162262654

 肺 癌;small_cell_carcinoma 替换-错义

c.768C > T;p.R256R;6:161785875 - 161785875

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.573G >;p.R191R;6:162054136 - 162054136

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.571C >;p.R191R;6:162054138 - 162054138

 肺 癌;腺癌 替换-编码沉默

c.571C >;p.R191R;6:162054138 - 162054138

 卵巢 其他;肿瘤 替换-编码沉默

c.719C > T;p.T240M;6:161973317 - 161973317

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.719C > T;p.T240M;6:161973317 - 161973317

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.25T > G;p.S9A;6:162443456 - 162443456

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.709A > G;p.T237A;6:161973327 - 161973327

 胃 癌;腺癌 替换-错义

c.719C > T;p.T240M;6:161973317 - 161973317

 胃 癌;腺癌 替换-错义

c.875G >;p.G292D;6:161569413 - 161569413

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.641C >;p.A214E;6:161973395 - 161973395

 前列腺癌 癌 替换-错义

c.1065C >;p.G355G;6:161548872 - 161548872

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.297C > T;p.P99P;6:162262640 - 162262640

 upper_aerodigestive_tract;喉 癌;squamous_cell_carcinoma 替换-编码沉默

c.700C > T;p.R234W;6:161973336 - 161973336

 large_intestine;盲肠 癌;腺癌 替换-错义

c.664A > G;p.T222A;6:161973372 - 161973372

 肺 癌;small_cell_carcinoma 替换-错义

c.1391A > T;p.D464V;6:161350106 - 161350106

 胰腺 癌 替换-错义

c.1230C > T;p.T410T;6:161360143 - 161360143

 皮肤 malignant_melanoma 替换-编码沉默

c.729C > T;p.D243D;6:161973307 - 161973307

 胰腺 癌 替换-编码沉默

c.1194C > T;p.A398A;6:161360179 - 161360179

 肝 癌 替换-编码沉默

c.1194C > T;p.A398A;6:161360179 - 161360179

 肝 癌 替换-编码沉默

c.688G >;p.A230T;6:161973348 - 161973348

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.390C > T;p.D130D;6:162262547 - 162262547

 皮肤 malignant_melanoma 替换-编码沉默

c.110C > T;p.P37L;6:162443371 - 162443371

 皮肤 malignant_melanoma 替换-错义

c.1390G >;p.D464N;6:161350107 - 161350107

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

c.1136C > T;p.A379V;6:161386825 - 161386825

 large_intestine 癌;腺癌 替换-错义

c.135C > T;p.F45F;6:162443346 - 162443346

 皮肤 malignant_melanoma 替换-编码沉默

c.1389C > T;p.F463F;6:161350108 - 161350108

 胃 癌;腺癌 替换-编码沉默

c.767G > T;p.R256L;6:161785876 - 161785876

 胃 癌;腺癌 替换-错义

c.1023G > T;p.L341L;6:161548914 - 161548914

 乳房 癌 替换-编码沉默

c.1389C > T;p.F463F;6:161350108 - 161350108

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.627C > T;p.F209F;6:161973409 - 161973409

 皮肤 malignant_melanoma 替换-编码沉默

c.1389C > T;p.F463F;6:161350108 - 161350108

 large_intestine 癌;腺癌 替换-编码沉默

c.665C >;p.T222K;6:161973371 - 161973371

 large_intestine;盲肠 癌;腺癌 替换-错义

c.311G >;p.R104Q;6:162262626 - 162262626

 large_intestine 癌;腺癌 替换-错义

c.633A > C;p.K211N;6:161973403 - 161973403

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1170C > G;p.A390A;6:161360203 - 161360203

 soft_tissue;blood_vessel 血管肉瘤 替换-编码沉默

c.1190C > T;p.A397V;6:161360183 - 161360183

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.111G >;p.P37P;6:162443370 - 162443370

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.950A > G;p.Q317R;6:161548987 - 161548987

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.1028C > T;p.P343L;6:161548909 - 161548909

 胃 癌;腺癌 替换-错义

c.1028C > T;p.P343L;6:161548909 - 161548909

 皮肤 malignant_melanoma 替换-错义

c.1365C > T;p.R455R;6:161350132 - 161350132

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.426C > T;p.I142I;6:162201239 - 162201239

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.1006_1007GG TT >;p.G336 > ?6:161548930 - 161548931

 肺 癌;腺癌 复杂的

c.167T >;p.V56E;6:162443314 - 162443314

 骨;腓骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.226A > G;p.K76E;6:162262711 - 162262711

 large_intestine;结肠 癌;腺癌 替换-错义

c.337C > T;p.P113S;6:162262600 - 162262600

 肺 癌;squamous_cell_carcinoma 替换-错义

c.479G >;p.G160E;6:162201186 - 162201186

 皮肤 malignant_melanoma 替换-错义

c.885C >;p.N295K;6:161569403 - 161569403

 large_intestine;直肠 癌;腺癌 替换-错义

c.594C > T;p.S198S;6:162054115 - 162054115

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.1060G > C;p.G354R;6:161548877 - 161548877

 肺 癌;腺癌 替换-错义

c.1213G > C;p.A405P;6:161360160 - 161360160

 肺 癌;squamous_cell_carcinoma 替换-错义

c.272C > T;p.A91V;6:162262665 - 162262665

 胰腺 癌 替换-错义

c.1259G >;p.R420H;6:161360114 - 161360114

 large_intestine 癌;腺癌 替换-错义

c.1259G >;p.R420H;6:161360114 - 161360114

 large_intestine;结肠 癌 替换-错义

c.1259G >;p.R420H;6:161360114 - 161360114

 large_intestine 癌;腺癌 替换-错义

c.272C > T;p.A91V;6:162262665 - 162262665

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.275C > T;p.A92V;6:162262662 - 162262662

 食管 癌;腺癌 替换-错义

c.458C > T;p.P153L;6:162201207 - 162201207

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.518C > T;p.T173M;6:162201147 - 162201147

 皮肤 malignant_melanoma 替换-错义

c.340G > T;p.G114 *;6:162262597 - 162262597

 large_intestine;盲肠 癌;腺癌 替换-胡说

c.1358G > T;p.W453L;6:161350139 - 161350139

 肺 癌;腺癌 替换-错义

c.1132A > G;p.S378G;6:161386829 - 161386829

 皮肤 malignant_melanoma 替换-错义

c.871G > T;p.A291S;6:161785772 - 161785772

 large_intestine 癌;腺癌 替换-错义

c.992T >;p.L331 *;6:161548945 - 161548945

 胃 癌;腺癌 替换-胡说

c.202C > T;p.H68Y;6:162262735 - 162262735

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.741delC;p.V248fs * 11;6:161785902 - 161785902

 胃 癌;intestinal_adenocarcinoma 删除——转移

c.466A > T;p.R156 *;6:162201199 - 162201199

 肺 癌;腺癌 替换-胡说

c.741delC;p.V248fs * 11;6:161785902 - 161785902

 胃 腺癌 删除——转移

c.1181A > G;p.D394G;6:161360192 - 161360192

 胃 癌;腺癌 替换-错义

c.580_581GG >在;p.G194I;6:162054128 - 162054129

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.124C >;p.R42S;6:162443357 - 162443357

 large_intestine 癌;腺癌 替换-错义

c.1112C > T;p.A371V;6:161386849 - 161386849

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1117C > G;p.H373D;6:161386844 - 161386844

 肺 癌;腺癌 替换-错义

c.522C > G;p.L174L;6:162201143 - 162201143

 乳房 癌 替换-编码沉默

c.646C > T;p.P216S;6:161973390 - 161973390

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.859C > T;p.L287L;6:161785784 - 161785784

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.477G >;p.P159P;6:162201188 - 162201188

 皮肤 malignant_melanoma 替换-编码沉默

c.1314G >;p.Q438Q;6:161350183 - 161350183

 皮肤 malignant_melanoma 替换-编码沉默

c.212A > C;p.Q71P;6:162262725 - 162262725

 食管 癌;腺癌 替换-错义

c.556G >;p.V186I;6:162054153 - 162054153

 肺 癌;squamous_cell_carcinoma 替换-错义

c.412G > C;p.A138P;6:162262525 - 162262525

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.915G >;p.R305R;6:161569373 - 161569373

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.1029G >;p.P343P;6:161548908 - 161548908

 胃 癌;腺癌 替换-编码沉默

c.474G > T;p.Q158H;6:162201191 - 162201191

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.919C >;p.L307M;6:161569369 - 161569369

 large_intestine;直肠 癌;腺癌 替换-错义

c.661G >;p.E221K;6:161973375 - 161973375

 soft_tissue;blood_vessel 血管肉瘤 替换-错义

c.388G >;p.D130N;6:162262549 - 162262549

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.587G >;p.C196Y;6:162054122 - 162054122

 urinary_tract;膀胱 癌 替换-错义

c.234A > G;p.Q78Q;6:162262703 - 162262703

 食管 癌;腺癌 替换-编码沉默

c.234A > G;p.Q78Q;6:162262703 - 162262703

 胃 癌;腺癌 替换-编码沉默

c.387G > T;p.K129N;6:162262550 - 162262550

 large_intestine;结肠 癌;腺癌 替换-错义

c.823C > T;p.R275W;6:161785820 - 161785820

 NS malignant_melanoma 替换-错义

c.1260C > T;p.R420R;6:161360113 - 161360113

 胃 癌;腺癌 替换-编码沉默

c.171G >;p.Q57Q;6:162443310 - 162443310

 urinary_tract;膀胱 癌 替换-编码沉默

c.258C > T;p.D86D;6:162262679 - 162262679

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.638G > T;p.G213V;6:161973398 - 161973398

 肺 癌;腺癌 替换-错义

c.265A > G;p.R89G;6:162262672 - 162262672

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.263C > T;p.P88L;6:162262674 - 162262674

 皮肤;头皮 癌;squamous_cell_carcinoma 替换-错义

c.1283delA;p.N428fs * 7;6:161360090 - 161360090

 large_intestine;盲肠 癌;腺癌 删除——转移

c.459C >;p.P153P;6:162201206 - 162201206

 乳房 癌 替换-编码沉默

c.354delG;p.L119fs * 58;6:162262583 - 162262583

 large_intestine 癌;腺癌 删除——转移

c.1057G > T;p.E353 *;6:161548880 - 161548880

 肺;right_upper_lobe 癌;腺癌 替换-胡说

c.500G >;p.S167N;6:162201165 - 162201165

 large_intestine;结肠 癌;腺癌 替换-错义

c.500G >;p.S167N;6:162201165 - 162201165

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.500G >;p.S167N;6:162201165 - 162201165

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.522C > T;p.L174L;6:162201143 - 162201143

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-编码沉默

c.1028C >;p.P343Q;6:161548909 - 161548909

 肺 癌;腺癌 替换-错义

c.442G > T;p.V148L;6:162201223 - 162201223

 urinary_tract;膀胱 癌 替换-错义

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