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

7980年

的名字

TFPI2

同义的

组织因子途径抑制2;TFPI2;组织因子途径抑制剂2

定义

胎盘蛋白5 |视网膜色素上皮细胞因子1

位置

7的时候

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0.03。

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.395G >;p.R132Q;7:93889100 - 93889100

 large_intestine;盲肠 癌;腺癌 替换-错义

c.395G >;p.R132Q;7:93889100 - 93889100

 前列腺癌 腺瘤 替换-错义

c.239A > G;p.E80G;7:93890169 - 93890169

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.66C > T;p.G22G;7:93890613 - 93890613

 食管 癌;腺癌 替换-编码沉默

c.411C > G;p.N137K;7:93889084 - 93889084

 large_intestine 癌;腺癌 替换-错义

c.408G > T;p.E136D;7:93889087 - 93889087

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.54G >;p.E18E;7:93890625 - 93890625

 皮肤 malignant_melanoma 替换-编码沉默

c.274G > C;p.V92L;7:93889221 - 93889221

 肝 癌 替换-错义

c.473G >;p.C158Y;7:93887419 - 93887419

 肺 癌;squamous_cell_carcinoma 替换-错义

c.375C >;p.F125L;7:93889120 - 93889120

 large_intestine;直肠 癌;腺癌 替换-错义

c.183C > T;p.C61C;7:93890225 - 93890225

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

c.127G >;p.G43R;7:93890281 - 93890281

 肝 癌 替换-错义

c.127G >;p.G43R;7:93890281 - 93890281

 肝 癌 替换-错义

c.689T >;p.I230N;7:93886839 - 93886839

 甲状腺 其他;肿瘤 替换-错义

c.530A > G;p.N177S;7:93887362 - 93887362

 large_intestine 癌;腺癌 替换-错义

c.530A > G;p.N177S;7:93887362 - 93887362

 large_intestine 癌;腺癌 替换-错义

c.235T > C;p.W79R;7:93890173 - 93890173

 large_intestine;结肠 癌;腺癌 替换-错义

c.147T >;p.L49L;7:93890261 - 93890261

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.419C > T;p.P140L;7:93889076 - 93889076

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.217G >;p.A73T;7:93890191 - 93890191

 large_intestine;结肠 NS 替换-错义

c.385G >;p.G129R;7:93889110 - 93889110

 食管 癌 替换-错义

c.10G > T;p.A4S;7:93890669 - 93890669

 肺 癌;腺癌 替换-错义

c.325T >;p.S109T;7:93889170 - 93889170

 large_intestine 癌;腺癌 替换-错义

c.325T >;p.S109T;7:93889170 - 93889170

 large_intestine 癌;腺癌 替换-错义

c.571T > G;p.C191G;7:93887321 - 93887321

 乳房 癌 替换-错义

c.182G > T;p.C61F;7:93890226 - 93890226

 甲状腺 癌;anaplastic_carcinoma 替换-错义

c.698A > C;p.K233T;7:93886830 - 93886830

 食管 癌;腺癌 替换-错义

c.271 + 1 g > T;p。?。7:93890136 - 93890136

 甲状腺 癌 未知的

c.264G >;p.R88R;7:93890144 - 93890144

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

c.524A > G;p.Y175C;7:93887368 - 93887368

 large_intestine;直肠 癌;腺癌 替换-错义

c.382G >;p.G128S;7:93889113 - 93889113

 乳房 癌 替换-错义

c.114G >;p.L38L;7:93890294 - 93890294

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.184C > T;p.R62C;7:93890224 - 93890224

 乳房 癌 替换-错义

c.322G > T;p.G108W;7:93889173 - 93889173

 large_intestine;结肠 癌;腺癌 替换-错义

c.290G >;p.R97Q;7:93889205 - 93889205

 large_intestine;盲肠 癌;腺癌 替换-错义

c.263G >;p.R88K;7:93890145 - 93890145

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.14G >;p.R5H;7:93890665 - 93890665

 胃 癌;腺癌 替换-错义

c.400C > T;p.R134W;7:93889095 - 93889095

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.170A > G;p.Y57C;7:93890238 - 93890238

 large_intestine;直肠 癌;腺癌 替换-错义

c.692G >;p.R231Q;7:93886836 - 93886836

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

c.692G >;p.R231Q;7:93886836 - 93886836

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.692G >;p.R231Q;7:93886836 - 93886836

 皮肤 malignant_melanoma 替换-错义

c.555T > C;p.A185A;7:93887337 - 93887337

 胰腺 癌 替换-编码沉默

c.555T > C;p.A185A;7:93887337 - 93887337

 胰腺 癌 替换-编码沉默

c.288C > T;p.C96C;7:93889207 - 93889207

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

c.553G > T;p.A185S;7:93887339 - 93887339

 large_intestine;结肠 癌;腺癌 替换-错义

c.616C > T;p.R206C;7:93887276 - 93887276

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

c.616C > T;p.R206C;7:93887276 - 93887276

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

c.616C > T;p.R206C;7:93887276 - 93887276

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

c.188A > G;p.Q63R;7:93890220 - 93890220

 large_intestine;结肠 癌;腺癌 替换-错义

c.691C > T;p.R231W;7:93886837 - 93886837

 前列腺癌 癌;腺癌 替换-错义

c.691C > T;p.R231W;7:93886837 - 93886837

 皮肤 malignant_melanoma 替换-错义

c.691C > T;p.R231W;7:93886837 - 93886837

 皮肤 malignant_melanoma 替换-错义

c.182G >;p.C61Y;7:93890226 - 93890226

 large_intestine;结肠 癌;腺癌 替换-错义

c.636G >;p.L212L;7:93886892 - 93886892

 皮肤 malignant_melanoma 替换-编码沉默

c.97G >;p.A33T;7:93890311 - 93890311

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.97G >;p.A33T;7:93890311 - 93890311

 胃 癌;腺癌 替换-错义

c.85A > C;p.T29P;7:93890594 - 93890594

 large_intestine;结肠 癌;腺癌 替换-错义

c.381C > T;p.S127S;7:93889114 - 93889114

 胃 癌;腺癌 替换-编码沉默

c.381C > T;p.S127S;7:93889114 - 93889114

 皮肤 malignant_melanoma 替换-编码沉默

c.578G >;p.G193E;7:93887314 - 93887314

 皮肤 malignant_melanoma 替换-错义

c.460 + 10 G >;p。?。7:93889025 - 93889025

 肝 癌 未知的

c.98C > T;p.A33V;7:93890310 - 93890310

 食道;lower_third 癌;squamous_cell_carcinoma 替换-错义

c.98C > T;p.A33V;7:93890310 - 93890310

 胃 癌;腺癌 替换-错义

c.98C > T;p.A33V;7:93890310 - 93890310

 胃 癌;腺癌 替换-错义

c.517C > T;p.R173C;7:93887375 - 93887375

 肺 癌;腺癌 替换-错义

c.471T > G;p.F157L;7:93887421 - 93887421

 large_intestine;结肠 癌;腺癌 替换-错义

c.309C > G;p.D103E;7:93889186 - 93889186

 胰腺 NS 替换-错义

c.196T > C;p.Y66H;7:93890212 - 93890212

 large_intestine;结肠 癌;腺癌 替换-错义

c.387delG;p.C130fs * 42;7:93889108 - 93889108

 乳房 癌 删除——转移

c.195G > T;p.L65L;7:93890213 - 93890213

 乳房 癌 替换-编码沉默

c.699G >;p.K233K;7:93886829 - 93886829

 乳房 癌 替换-编码沉默

c.336G > T;p.K112N;7:93889159 - 93889159

 肝 癌 替换-错义

c.198C > T;p.Y66Y;7:93890210 - 93890210

 胃 癌;腺癌 替换-编码沉默

c.682C > T;p.R228W;7:93886846 - 93886846

 皮肤 malignant_melanoma 替换-错义

c.624T > G;p.C208W;7:93887268 - 93887268

 皮肤 malignant_melanoma 替换-错义

c.665G >;p.R222H;7:93886863 - 93886863

 子宫内膜 癌;serous_carcinoma 替换-错义

c.665G >;p.R222H;7:93886863 - 93886863

 large_intestine;结肠 癌;腺癌 替换-错义

c.257G >;p.C86Y;7:93890151 - 93890151

 肺 癌;squamous_cell_carcinoma 替换-错义

c.665G >;p.R222H;7:93886863 - 93886863

 large_intestine;盲肠 癌;腺癌 替换-错义

c.216C > T;p.N72N;7:93890192 - 93890192

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.136C > T;p.R46W;7:93890272 - 93890272

 食道;lower_third 癌;腺癌 替换-错义

c.102G >;p.E34E;7:93890306 - 93890306

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.664C > T;p.R222C;7:93886864 - 93886864

 urinary_tract;膀胱 癌 替换-错义

c.664C > T;p.R222C;7:93886864 - 93886864

 皮肤 malignant_melanoma 替换-错义

c.664C > T;p.R222C;7:93886864 - 93886864

 urinary_tract;膀胱 癌 替换-错义

c.338A > G;p.Y113C;7:93889157 - 93889157

 肺 癌;腺癌 替换-错义

c.683G >;p.R228Q;7:93886845 - 93886845

 食管 癌 替换-错义

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