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

10397年

的名字

NDRG1

同义的

N-myc下游监管1;NDRG1; N-myc下游监管1

定义

N-myc downstream-regulated基因1蛋白| differentiation-related基因1蛋白| nickel-specific感应蛋白Cap43 |蛋白质NDRG1 |蛋白质受oxygen-1 |减少代理和tunicamycin-responsive蛋白质

位置

8 q24.3

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0.06。

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.657G > T;p.M219I;8:133250481 - 133250481

 食管 癌 替换-错义

c.196G >;p.G66S;8:133264556 - 133264556

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.118T > G;p.L40V;8:133264634 - 133264634

 胃 癌;腺癌 替换-错义

c.925G >;p.V309M;8:133242041 - 133242041

 肺 癌;squamous_cell_carcinoma 替换-错义

c.288C > T;p.A96A;8:133262085 - 133262085

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.1157G > C;p.G386A;8:133238906 - 133238906

 肺 癌;腺癌 替换-错义

c.700C > T;p.R234W;8:133248770 - 133248770

 皮肤 malignant_melanoma 替换-错义

c.187C >;p.H63N;8:133264565 - 133264565

 肺 癌;squamous_cell_carcinoma 替换-错义

c.322G >;p.A108T;8:133262051 - 133262051

 large_intestine;结肠 癌;腺癌 替换-错义

c.322G >;p.A108T;8:133262051 - 133262051

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.322G >;p.A108T;8:133262051 - 133262051

 胃 癌;腺癌 替换-错义

c.470T > C;p.V157A;8:133256844 - 133256844

 large_intestine;结肠 癌;腺癌 替换-错义

c.1007C > G;p.S336C;8:133239056 - 133239056

 urinary_tract;膀胱 癌 替换-错义

c.194T > G;p.I65S;8:133264558 - 133264558

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.927G >;p.V309V;8:133242039 - 133242039

 large_intestine 癌;腺癌 替换-编码沉默

c.563C > T;p.P188L;8:133254570 - 133254570

 乳房 癌 替换-错义

c.1110C > T;p.A370A;8:133238953 - 133238953

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.318C > T;p.F106F;8:133262055 - 133262055

 皮肤 malignant_melanoma 替换-编码沉默

c.33T >;p.A11A;8:133284279 - 133284279

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.974G >;p.R325Q;8:133239089 - 133239089

 large_intestine;盲肠 癌;腺癌 替换-错义

c.718G > T;p.E240 *;8:133248752 - 133248752

 肺 癌;腺癌 替换-胡说

c.341C >;p.S114Y;8:133259216 - 133259216

 乳房 癌 替换-错义

c.734G > C;p.G245A;8:133248736 - 133248736

 乳房 癌 替换-错义

c.924C > T;p.F308F;8:133242042 - 133242042

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.686A > G;p.N229S;8:133250452 - 133250452

 肺 癌;squamous_cell_carcinoma 替换-错义

c.492C > T;p.N164N;8:133256822 - 133256822

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.64-6T > C;p。?。8:133280273 - 133280273

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.64-6T > C;p。?。8:133280273 - 133280273

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.882G >;p.Q294Q;8:133244364 - 133244364

 乳房 癌 替换-编码沉默

c.321C > T;p.P107P;8:133262052 - 133262052

 皮肤 malignant_melanoma 替换-编码沉默

c.755 + 10 t > C;p。?。8:133248705 - 133248705

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.805G >;p.V269M;8:133247877 - 133247877

 卵巢 癌;serous_carcinoma 替换-错义

c.616G >;p.E206K;8:133250522 - 133250522

 肝 癌;hepatocellular_carcinoma 替换-错义

c.1100G >;p.S367N;8:133238963 - 133238963

 large_intestine;结肠 癌;腺癌 替换-错义

c.294C >;p.G98G;8:133262079 - 133262079

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.289C >;p.P97T;8:133262084 - 133262084

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.843C > T;p.T281T;8:133246628 - 133246628

 皮肤 malignant_melanoma 替换-编码沉默

c.368C >;p.P123H;8:133259189 - 133259189

 large_intestine;结肠 癌;腺癌 替换-错义

c.269C > T;p.A90V;8:133262104 - 133262104

 NS malignant_melanoma 替换-错义

c.677T > C;p.L226P;8:133250461 - 133250461

 large_intestine;结肠 癌;腺癌 替换-错义

c.731C > T;p.P244L;8:133248739 - 133248739

 皮肤 malignant_melanoma 替换-错义

c.861G >;p.A287A;8:133244385 - 133244385

 皮肤 malignant_melanoma 替换-编码沉默

c.861G >;p.A287A;8:133244385 - 133244385

 皮肤 malignant_melanoma 替换-编码沉默

c.996C > T;p.S332S;8:133239067 - 133239067

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.849C > T;p.L283L;8:133246622 - 133246622

 皮肤 malignant_melanoma 替换-编码沉默

c.17A > G;p.Q6R;8:133284295 - 133284295

 卵巢 癌;serous_carcinoma 替换-错义

c.17A > G;p.Q6R;8:133284295 - 133284295

 large_intestine;结肠 癌;腺癌 替换-错义

c.82C > T;p.Q28 *;8:133280249 - 133280249

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.478C >;p.L160I;8:133256836 - 133256836

 large_intestine;结肠 癌;腺癌 替换-错义

c.578C > G;p.S193C;8:133254555 - 133254555

 urinary_tract;膀胱 癌 替换-错义

c.1126C > T;p.P376S;8:133238937 - 133238937

 皮肤 malignant_melanoma 替换-错义

c.57_58delAG;p.E21fs * 10;8:133284254 - 133284255

 皮肤 malignant_melanoma 删除——转移

c.72C > T;p.T24T;8:133280259 - 133280259

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.114G > T;p.E38D;8:133264638 - 133264638

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.112G >;p.E38K;8:133264640 - 133264640

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.49G > T;p.V17L;8:133284263 - 133284263

 卵巢 癌;serous_carcinoma 替换-错义

c.1155C > G;p.A385A;8:133238908 - 133238908

 乳房 癌 替换-编码沉默

c.616G > C;p.E206Q;8:133250522 - 133250522

 large_intestine;直肠 癌;腺癌 替换-错义

c.818A > G;p.N273S;8:133246653 - 133246653

 肺 癌;small_cell_carcinoma 替换-错义

c.46T > C;p.L16L;8:133284266 - 133284266

 皮肤 malignant_melanoma 替换-编码沉默

c.808-9C > T;p。?。8:133246672 - 133246672

 肝 癌 未知的

c.808-9C > T;p。?。8:133246672 - 133246672

 肝 癌 未知的

c.672G >;p.L224L;8:133250466 - 133250466

 肝 癌 替换-编码沉默

c.1086C >;p.S362R;8:133238977 - 133238977

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.100G >;p.E34K;8:133264652 - 133264652

 皮肤 malignant_melanoma 替换-错义

c.303C >;p.D101E;8:133262070 - 133262070

 前列腺癌 癌 替换-错义

c.484C > G;p.L162V;8:133256830 - 133256830

 large_intestine 癌;腺癌 替换-错义

c.1055G > T;p.S352I;8:133239008 - 133239008

 甲状腺 其他;肿瘤 替换-错义

c.506C > T;p.A169V;8:133256808 - 133256808

 large_intestine;盲肠 癌;腺癌 替换-错义

c.871G >;p.G291S;8:133244375 - 133244375

 胃 癌;腺癌 替换-错义

c.168G >;p.R56R;8:133264584 - 133264584

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.73G >;p.G25S;8:133280258 - 133280258

 皮肤 malignant_melanoma 替换-错义

c.211A > G;p.T71A;8:133262162 - 133262162

 large_intestine;盲肠 癌;腺癌 替换-错义

c.732G >;p.P244P;8:133248738 - 133248738

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.836_837insA;p.T281fs * 23;8:133246634 - 133246635

 胃 癌;intestinal_adenocarcinoma 插入——转移

c.66C >;p.T22T;8:133280265 - 133280265

 胃 癌;腺癌 替换-编码沉默

c.424G >;p.G142S;8:133258392 - 133258392

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.195C >;p.I65I;8:133264557 - 133264557

 胃 癌;腺癌 替换-编码沉默

c.1052G >;p.R351Q;8:133239011 - 133239011

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.815G >;p.C272Y;8:133246656 - 133246656

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

c.815G >;p.C272Y;8:133246656 - 133246656

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

c.1156G >;p.G386R;8:133238907 - 133238907

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.636C > T;p.R212R;8:133250502 - 133250502

 large_intestine 癌;腺癌 替换-编码沉默

”)
Baidu