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

838年

的名字

CASP5

同义的

半胱天冬酶5 apoptosis-related半胱氨酸肽酶;CASP5;半胱天冬酶5 apoptosis-related半胱氨酸肽酶

定义

CASP-5 |冰(rel) iii |泰蛋白酶|半胱天冬酶5 apoptosis-related半胱氨酸蛋白酶| caspase-5 |蛋白酶ICH-3 |蛋白酶泰

位置

11 q22.2-q22.3

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0.32。

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.460G > T;p.E154 *;11:105003309 - 105003309

 large_intestine;结肠 癌;腺癌 替换-胡说

c.195T >;p.H65Q;11:105007273 - 105007273

 肾脏 其他;肿瘤 替换-错义

c.518A > G;p.E173G;11:105002179 - 105002179

 large_intestine;结肠 癌;腺癌 替换-错义

c.518A > G;p.E173G;11:105002179 - 105002179

 large_intestine;结肠 癌;腺癌 替换-错义

c.518A > G;p.E173G;11:105002179 - 105002179

 large_intestine;结肠 癌;腺癌 替换-错义

c.195T >;p.H65Q;11:105007273 - 105007273

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.518A > G;p.E173G;11:105002179 - 105002179

 large_intestine;结肠 癌;腺癌 替换-错义

c.845G >;p.R282H;11:105000320 - 105000320

 肺 癌;腺癌 替换-错义

c.809T > G;p.L270R;11:105000356 - 105000356

 皮肤 malignant_melanoma 替换-错义

c.1065A > T;p.R355S;11:104997476 - 104997476

 胰腺 癌;acinar_carcinoma 替换-错义

c.10G >;p.G4S;11:105008930 - 105008930

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.305C > T;p.S102F;11:105007163 - 105007163

 NS NS 替换-错义

c.95T > C;p.L32P;11:105008845 - 105008845

 large_intestine;结肠 癌;腺癌 替换-错义

c.85A > G;p.I29V;11:105008855 - 105008855

 皮肤 malignant_melanoma 替换-错义

c.315G > T;p.K105N;11:105007153 - 105007153

 乳房 癌 替换-错义

c.1043C >;p.T348K;11:104998890 - 104998890

 large_intestine 癌;腺癌 替换-错义

c.1043C >;p.T348K;11:104998890 - 104998890

 large_intestine;结肠 癌;腺癌 替换-错义

c.1043C >;p.T348K;11:104998890 - 104998890

 large_intestine 癌;腺癌 替换-错义

c.474G > T;p.L158L;11:105003295 - 105003295

 肝 癌 替换-编码沉默

c.474G > T;p.L158L;11:105003295 - 105003295

 肝 癌 替换-编码沉默

c.404C > T;p.A135V;11:105003365 - 105003365

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.875A > T;p.K292M;11:105000290 - 105000290

 肺 癌;腺癌 替换-错义

c.783G >;p.A261A;11:105000382 - 105000382

 食道;middle_third 癌;squamous_cell_carcinoma 替换-编码沉默

c.63C >;p.N21K;11:105008877 - 105008877

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.403G > C;p.A135P;11:105003366 - 105003366

 肺 癌;squamous_cell_carcinoma 替换-错义

c.402G > T;p.E134D;11:105003367 - 105003367

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.39C > T;p.F13F;11:105008901 - 105008901

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.133A > C;p.K45Q;11:105008807 - 105008807

 肾脏 癌;papillary_renal_cell_carcinoma 替换-错义

c.461A > T;p.E154V;11:105003308 - 105003308

 皮肤 malignant_melanoma 替换-错义

c.498C >;p.I166I;11:105002199 - 105002199

 肺;right_lower_lobe 癌;腺癌 替换-编码沉默

c.805G >;p.V269M;11:105000360 - 105000360

 large_intestine;结肠 癌;腺癌 替换-错义

c.512delA;p.K171fs * 33;11:105002185 - 105002185

 large_intestine;盲肠 癌;腺癌 删除——转移

c.917A > T;p.E306V;11:104999016 - 104999016

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.67G > T;p.V23L;11:105008873 - 105008873

 肺 癌;small_cell_carcinoma 替换-错义

c.386C > T;p.P129L;11:105003383 - 105003383

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.386C > T;p.P129L;11:105003383 - 105003383

 upper_aerodigestive_tract;口 癌 替换-错义

c.869A > T;p.K290I;11:105000296 - 105000296

 large_intestine;直肠 癌;腺癌 替换-错义

c.607A > G;p.M203V;11:105002090 - 105002090

 胃 癌;腺癌 替换-错义

c.1028C >;p.A343D;11:104998905 - 104998905

 large_intestine;直肠 癌;腺癌 替换-错义

c.1180C > T;p.P394S;11:104995821 - 104995821

 皮肤 malignant_melanoma 替换-错义

c.1087T > G;p.F363V;11:104997454 - 104997454

 urinary_tract;膀胱 癌 替换-错义

c.119C > T;p.S40L;11:105008821 - 105008821

 胃 癌;腺癌 替换-错义

c.134-7C > T;p。?。11:105007341 - 105007341

 urinary_tract;膀胱 癌 未知的

c.341C > T;p.T114I;11:105007127 - 105007127

 皮肤 malignant_melanoma 替换-错义

c.352C > T;p.L118F;11:105007116 - 105007116

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1250G >;p.G417D;11:104995751 - 104995751

 皮肤 malignant_melanoma 替换-错义

c.117G > T;p.K39N;11:105008823 - 105008823

 肺 癌;small_cell_carcinoma 替换-错义

c.154_155insT;p.T52fs * 3;11:105007313 - 105007314

 肺 癌;腺癌 插入——转移

c.731C > T;p.T244M;11:105000434 - 105000434

 胃 癌;腺癌 替换-错义

c.1256G > C;p。* 419年代;11:104995745 - 104995745

 肺 癌;腺癌 不间断的扩展

c.743T > C;p.L248P;11:105000422 - 105000422

 肺 癌;squamous_cell_carcinoma 替换-错义

c.878T > C;p.V293A;11:105000287 - 105000287

 胃 癌;腺癌 替换-错义

c.600C > T;p.I200I;11:105002097 - 105002097

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.261T > G;p.Y87 *;11:105007207 - 105007207

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1208T > C;p.I403T;11:104995793 - 104995793

 食道;lower_third 癌;腺癌 替换-错义

c.493G >;p.E165K;11:105003276 - 105003276

 肺 癌;squamous_cell_carcinoma 替换-错义

c.19C > T;p.Q7 *;11:105008921 - 105008921

 肺 癌;squamous_cell_carcinoma 替换-胡说

c.975G > T;p.E325D;11:104998958 - 104998958

 large_intestine;结肠 癌;腺癌 替换-错义

c.1245T > C;p.F415F;11:104995756 - 104995756

 子宫颈 癌;squamous_cell_carcinoma 替换-编码沉默

c.388C > G;p.L130V;11:105003381 - 105003381

 肺 癌;small_cell_carcinoma 替换-错义

c.872C > T;p.P291L;11:105000293 - 105000293

 皮肤 malignant_melanoma 替换-错义

c.221A > T;p.H74L;11:105007247 - 105007247

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.221A > T;p.H74L;11:105007247 - 105007247

 肺 癌;腺癌 替换-错义

c.600C >;p.I200I;11:105002097 - 105002097

 肺 癌;腺癌 替换-编码沉默

c.251delA;p.K84fs * 14;11:105007217 - 105007217

 胸膜 pulmonary_blastoma 删除——转移

c.648C > T;p.D216D;11:105002049 - 105002049

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.451C >;p.P151T;11:105003318 - 105003318

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.108G >;p.T36T;11:105008832 - 105008832

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.975G >;p.E325E;11:104998958 - 104998958

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.805G > T;p.V269L;11:105000360 - 105000360

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.293T > C;p.I98T;11:105007175 - 105007175

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.31G >;p.D11N;11:105008909 - 105008909

 前列腺癌 癌;腺癌 替换-错义

c.649G >;p.E217K;11:105002048 - 105002048

 large_intestine;直肠 癌;腺癌 替换-错义

c.1153C > T;p.R385W;11:104997388 - 104997388

 皮肤 malignant_melanoma 替换-错义

c.1153C > T;p.R385W;11:104997388 - 104997388

 large_intestine;结肠 癌;腺癌 替换-错义

c.1153C > T;p.R385W;11:104997388 - 104997388

 皮肤 malignant_melanoma 替换-错义

c.1153C > T;p.R385W;11:104997388 - 104997388

 皮肤 malignant_melanoma 替换-错义

c.252G > T;p.K84N;11:105007216 - 105007216

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.775G >;p.G259R;11:105000390 - 105000390

 large_intestine;结肠 癌;腺癌 替换-错义

c.495G > T;p.E165D;11:105003274 - 105003274

 肺 癌;腺癌 替换-错义

c.477_478insA;p.N162fs * 3;11:105003291 - 105003292

 肺 癌;non_small_cell_carcinoma 插入——转移

c.684G >;p.V228V;11:105000481 - 105000481

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.15C >;p.I5I;11:105008925 - 105008925

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.446T >;p.L149H;11:105003323 - 105003323

 肝 癌 替换-错义

c.519G > C;p.E173D;11:105002178 - 105002178

 肝 癌 替换-错义

c.1251C >;p.G417G;11:104995750 - 104995750

 large_intestine 癌;腺癌 替换-编码沉默

c.519G > C;p.E173D;11:105002178 - 105002178

 肝 癌 替换-错义

c.519G > C;p.E173D;11:105002178 - 105002178

 卵巢 癌;serous_carcinoma 替换-错义

c.311G >;p.R104Q;11:105007157 - 105007157

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.291G >;p.L97L;11:105007177 - 105007177

 urinary_tract;膀胱 癌 替换-编码沉默

c.635_636AC TT >;p.Y212F;11:105002061 - 105002062

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.543C > T;p.I181I;11:105002154 - 105002154

 肺 癌;腺癌 替换-编码沉默

c.1089C > T;p.F363F;11:104997452 - 104997452

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1048C > T;p.H350Y;11:104998885 - 104998885

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.522C > G;p.D174E;11:105002175 - 105002175

 胃 癌;腺癌 替换-错义

c.153_154delAA;p.K51fs * 3;11:105007314 - 105007315

 large_intestine;结肠 癌;腺癌 删除——转移

c.153_154delAA;p.K51fs * 3;11:105007314 - 105007315

 食道;lower_third 癌;腺癌 删除——转移

c.40G >;p.V14M;11:105008900 - 105008900

 large_intestine;盲肠 癌;腺癌 替换-错义

c.286G > C;p.A96P;11:105007182 - 105007182

 large_intestine;结肠 癌;腺癌 替换-错义

c.223G >;p.D75N;11:105007245 - 105007245

 large_intestine;盲肠 癌;腺癌 替换-错义

c.223G >;p.D75N;11:105007245 - 105007245

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.812T > G;p.L271R;11:105000353 - 105000353

 large_intestine;结肠 癌;腺癌 替换-错义

c.135A > C;p.K45N;11:105007333 - 105007333

 食管 癌;腺癌 替换-错义

c.822C >;p.T274T;11:105000343 - 105000343

 large_intestine 癌;腺癌 替换-编码沉默

c.452C >;p.P151H;11:105003317 - 105003317

 large_intestine;结肠 癌;腺癌 替换-错义

c.1158G > T;p.K386N;11:104997383 - 104997383

 胰腺 癌 替换-错义

c.399C > T;p.I133I;11:105003370 - 105003370

 皮肤 malignant_melanoma 替换-编码沉默

c.364C > T;p.Q122 *;11:105007104 - 105007104

 皮肤 malignant_melanoma 替换-胡说

c.481A > C;p.K161Q;11:105003288 - 105003288

 large_intestine;结肠 癌;腺癌 替换-错义

c.485_486insA;p.N162fs * 3;11:105003283 - 105003284

 large_intestine;结肠 癌;腺癌 插入——转移

c.562G > C;p.D188H;11:105002135 - 105002135

 肺 癌;腺癌 替换-错义

c.1169C >;p.S390 *;11:104995832 - 104995832

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1169C >;p.S390 *;11:104995832 - 104995832

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.892G >;p.A298T;11:105000273 - 105000273

 large_intestine 癌;腺癌 替换-错义

c.909A > C;p.K303N;11:104999024 - 104999024

 胃 癌;腺癌 替换-错义

c.385 + 7 t > C;p。?。11:105007076 - 105007076

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.385 + 7 t > C;p。?。11:105007076 - 105007076

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.385 + 7 t > C;p。?。11:105007076 - 105007076

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.346A > G;p.T116A;11:105007122 - 105007122

 皮肤 malignant_melanoma 替换-错义

c.485delA;p.N162fs * 8;11:105003284 - 105003284

 large_intestine;结肠 癌;腺癌 删除——转移

c.485delA;p.N162fs * 8;11:105003284 - 105003284

 large_intestine 癌;腺癌 删除——转移

c.485delA;p.N162fs * 8;11:105003284 - 105003284

 large_intestine;结肠 癌;腺癌 删除——转移

c.485delA;p.N162fs * 8;11:105003284 - 105003284

 large_intestine;盲肠 癌;腺癌 删除——转移

c.485delA;p.N162fs * 8;11:105003284 - 105003284

 large_intestine;结肠 癌;腺癌 删除——转移

c.534G >;p.L178L;11:105002163 - 105002163

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.305C > G;p.S102C;11:105007163 - 105007163

 乳房 癌 替换-错义

c.305C > G;p.S102C;11:105007163 - 105007163

 urinary_tract;膀胱 癌 替换-错义

c.749C > T;p.S250F;11:105000416 - 105000416

 urinary_tract;膀胱 癌 替换-错义

c.1086C > T;p.I362I;11:104997455 - 104997455

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.959C > T;p.S320F;11:104998974 - 104998974

 皮肤;的脸 癌;squamous_cell_carcinoma 替换-错义

c.385C > T;p.P129S;11:105007083 - 105007083

 卵巢 癌;serous_carcinoma 替换-错义

c.1159-8T > C;p。?。11:104995850 - 104995850

 肝 癌 未知的

c.1159-8T > C;p。?。11:104995850 - 104995850

 肝 癌 未知的

c.1159-8T > C;p。?。11:104995850 - 104995850

 肝 癌 未知的

c.664G >;p.A222T;11:105002033 - 105002033

 肺 癌;腺癌 替换-错义

c.872C > G;p.P291R;11:105000293 - 105000293

 肺 癌;腺癌 替换-错义

c.519G > T;p.E173D;11:105002178 - 105002178

 食管 癌 替换-错义

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;直肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.468G > C;p.L156L;11:105003301 - 105003301

 肺 癌;腺癌 替换-编码沉默

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.137A > G;p.D46G;11:105007331 - 105007331

 肝 癌 替换-错义

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 胃 癌;intestinal_adenocarcinoma 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 胃 癌;intestinal_adenocarcinoma 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 肝 癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;直肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 卵巢 癌;serous_carcinoma 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;盲肠 癌;腺癌 删除——转移

c.154delA;p.T52fs * 26;11:105007314 - 105007314

 large_intestine;结肠 癌;腺癌 删除——转移

c.107C > T;p.T36M;11:105008833 - 105008833

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.107C > T;p.T36M;11:105008833 - 105008833

 甲状腺 癌 替换-错义

c.176T > C;p.L59P;11:105007292 - 105007292

 胃 癌;腺癌 替换-错义

c.325G >;p.A109T;11:105007143 - 105007143

 large_intestine;盲肠 癌;腺癌 替换-错义

c.581A > T;p.N194I;11:105002116 - 105002116

 乳房 癌 替换-错义

c.241G >;p.E81K;11:105007227 - 105007227

 皮肤 malignant_melanoma 替换-错义

c.241G >;p.E81K;11:105007227 - 105007227

 皮肤 malignant_melanoma 替换-错义

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