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

26136年

的名字

测试工程师

同义的

testin LIM域蛋白;测试;testin LIM域蛋白质

定义

testin |睾丸中记录(3 LIM域)

位置

7 q31.2

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0.19。

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.649G > T;p.A217S;7:116250443 - 116250443

 large_intestine;结肠 癌;腺癌 替换-错义

c.665T > C;p.M222T;7:116250459 - 116250459

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.172_173insA;p.E59fs * 10;7:116249078 - 116249079

 large_intestine 癌;腺癌 插入——转移

c.68T >;p.L23 *;7:116234574 - 116234574

 胰腺 癌 替换-胡说

c.420_421delAG;p.E141fs * 17;7:116250214 - 116250215

 骨;骨盆 软骨肉瘤 删除——转移

c.553G >;p.E185K;7:116250347 - 116250347

 皮肤 malignant_melanoma 替换-错义

c.553G >;p.E185K;7:116250347 - 116250347

 soft_tissue;blood_vessel 血管肉瘤 替换-错义

c.472G >;p.D158N;7:116250266 - 116250266

 urinary_tract;膀胱 癌 替换-错义

c.899G >;p.R300Q;7:116251956 - 116251956

 胃 癌;腺癌 替换-错义

c.254C > T;p.P85L;7:116249160 - 116249160

 皮肤 malignant_melanoma 替换-错义

c.91G >;p.G31R;7:116234597 - 116234597

 large_intestine;结肠 癌;腺癌 替换-错义

c.437G >;p.R146Q;7:116250231 - 116250231

 乳房 癌 替换-错义

c.1121G >;p.R374Q;7:116257337 - 116257337

 large_intestine;结肠 癌;腺癌 替换-错义

c.186A > G;p.K62K;7:116249092 - 116249092

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.660G >;p.G220G;7:116250454 - 116250454

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.660G >;p.G220G;7:116250454 - 116250454

 乳房 癌 替换-编码沉默

c.942C >;p.T314T;7:116252341 - 116252341

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1178G >;p.C393Y;7:116257394 - 116257394

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1262C >;p.S421Y;7:116257478 - 116257478

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.260A > G;p.Y87C;7:116249166 - 116249166

 urinary_tract;膀胱 癌 替换-错义

c.284C > T;p.T95M;7:116249190 - 116249190

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.284C > T;p.T95M;7:116249190 - 116249190

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1032T > C;p.N344N;7:116252431 - 116252431

 乳房 癌 替换-编码沉默

c.284C > T;p.T95M;7:116249190 - 116249190

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

c.284C > T;p.T95M;7:116249190 - 116249190

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.118A > G;p.I40V;7:116249024 - 116249024

 large_intestine;结肠 癌;腺癌 替换-错义

c.159C > T;p.V53V;7:116249065 - 116249065

 皮肤 malignant_melanoma 替换-编码沉默

c.915C > T;p.D305D;7:116251972 - 116251972

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

c.506C > T;p.P169L;7:116250300 - 116250300

 large_intestine 癌;腺癌 替换-错义

c.506C > T;p.P169L;7:116250300 - 116250300

 large_intestine 癌;腺癌 替换-错义

c.506C > T;p.P169L;7:116250300 - 116250300

 large_intestine;结肠 癌 替换-错义

c.506C > T;p.P169L;7:116250300 - 116250300

 large_intestine 癌;腺癌 替换-错义

c.181C > T;p.R61 *;7:116249087 - 116249087

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

c.775A > T;p.K259 *;7:116251832 - 116251832

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.334G >;p.E112K;7:116249240 - 116249240

 乳房 癌 替换-错义

c.97G >;p.E33K;7:116234603 - 116234603

 胃 癌;腺癌 替换-错义

c.97G >;p.E33K;7:116234603 - 116234603

 large_intestine;结肠 癌;腺癌 替换-错义

c.97G >;p.E33K;7:116234603 - 116234603

 large_intestine;盲肠 癌;腺癌 替换-错义

c.97G >;p.E33K;7:116234603 - 116234603

 large_intestine;直肠 癌;腺癌 替换-错义

c.97G >;p.E33K;7:116234603 - 116234603

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1133A > G;p.N378S;7:116257349 - 116257349

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.618G > T;p.M206I;7:116250412 - 116250412

 large_intestine 癌;腺癌 替换-错义

c.170A > C;p.N57T;7:116249076 - 116249076

 large_intestine 癌;腺癌 替换-错义

c.908G > T;p.G303V;7:116251965 - 116251965

 肝 癌;hepatocellular_carcinoma 替换-错义

c.297T >;p.A99A;7:116249203 - 116249203

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

c.829G >;p.D277N;7:116251886 - 116251886

 large_intestine;盲肠 癌;腺癌 替换-错义

c.909C >;p.G303G;7:116251966 - 116251966

 large_intestine 癌;腺癌 替换-编码沉默

c.92G > C;p.G31A;7:116234598 - 116234598

 large_intestine;盲肠 癌;腺癌 替换-错义

c.840delT;p.W282fs * 26;7:116251897 - 116251897

 large_intestine;结肠 癌;腺癌 删除——转移

c.889G > T;p.E297 *;7:116251946 - 116251946

 肺 癌;squamous_cell_carcinoma 替换-胡说

c.863A > G;p.Y288C;7:116251920 - 116251920

 large_intestine;结肠 癌;腺癌 替换-错义

c.125G >;p.R42H;7:116249031 - 116249031

 large_intestine 癌;腺癌 替换-错义

c.125G >;p.R42H;7:116249031 - 116249031

 large_intestine;结肠 癌;腺癌 替换-错义

c.125G >;p.R42H;7:116249031 - 116249031

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

c.888C > T;p.S296S;7:116251945 - 116251945

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.217A > G;p.T73A;7:116249123 - 116249123

 large_intestine;结肠 癌;腺癌 替换-错义

c.124C > T;p.R42C;7:116249030 - 116249030

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.677C >;p.S226Y;7:116250471 - 116250471

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.124C > T;p.R42C;7:116249030 - 116249030

 皮肤 malignant_melanoma 替换-错义

c.808A > C;p.T270P;7:116251865 - 116251865

 皮肤;树干 malignant_melanoma 替换-错义

c.647C > T;p.P216L;7:116250441 - 116250441

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1087G >;p.G363R;7:116257303 - 116257303

 皮肤;粘膜 malignant_melanoma 替换-错义

c.661G > T;p.A221S;7:116250455 - 116250455

 胰腺 癌 替换-错义

c.433T >;p.Y145N;7:116250227 - 116250227

 胃 癌;腺癌 替换-错义

c.662C > T;p.A221V;7:116250456 - 116250456

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1130A > C;p.Y377S;7:116257346 - 116257346

 肺 癌;腺癌 替换-错义

c.1057_1058insT;p.Y353fs * 26;7:116252456 - 116252457

 卵巢 癌 插入——转移

c.1057_1058insT;p.Y353fs * 26;7:116252456 - 116252457

 卵巢 癌 插入——转移

c.43G >;p.E15K;7:116234549 - 116234549

 large_intestine;结肠 癌;腺癌 替换-错义

c.1112A > T;p.E371V;7:116257328 - 116257328

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.285G >;p.T95T;7:116249191 - 116249191

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.692G > T;p.R231I;7:116250486 - 116250486

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.983G >;p.C328Y;7:116252382 - 116252382

 卵巢 其他;肿瘤 替换-错义

c.1136A > G;p.N379S;7:116257352 - 116257352

 骨;extraskeletal Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.939T > C;p.Y313Y;7:116252338 - 116252338

 large_intestine;结肠 NS 替换-编码沉默

c.587G > T;p.C196F;7:116250381 - 116250381

 肺;right_upper_lobe 癌;腺癌 替换-错义

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