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

9314年

的名字

KLF4

同义的

Kruppel-like因子4(肠道);KLF4; Kruppel-like因子4(内脏)

定义

Krueppel-like因素4 |内皮Kruppel-like锌指蛋白|上皮锌指蛋白EZF | gut-enriched Krueppel-like因素

位置

9问

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.385T > C;p.S129P;9:107488009 - 107488009

 large_intestine;结肠 癌;腺癌 替换-错义

_1099 c.1099 + 7 + 8 cc TT >;p。?。9:107487287 - 107487288

 皮肤;head_neck 癌;squamous_cell_carcinoma 未知的

c.1237C > T;p.L413F;9:107487055 - 107487055

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.1178C > T;p.T393I;9:107487114 - 107487114

 皮肤 malignant_melanoma 替换-错义

c.489G > T;p.A163A;9:107487905 - 107487905

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.708C >;p.S236R;9:107487686 - 107487686

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;mantle_cell_lymphoma 替换-错义

c.1353G >;p.T451T;9:107485838 - 107485838

 皮肤 malignant_melanoma 替换-编码沉默

c.185C >;p.P62H;9:107488209 - 107488209

 肺 癌;腺癌 替换-错义

c.395C > G;p.S132C;9:107487999 - 107487999

 肺 癌;squamous_cell_carcinoma 替换-错义

c.663A > T;p.P221P;9:107487731 - 107487731

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.38G >;p.S13N;9:107489018 - 107489018

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1168C > T;p.R390W;9:107487124 - 107487124

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.1265G >;p.G422D;9:107485926 - 107485926

 食管 癌;腺癌 替换-错义

c.648G > T;p.Q216H;9:107487746 - 107487746

 胰腺 癌 替换-错义

c.288C > T;p.T96T;9:107488106 - 107488106

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1253G >;p.R418Q;9:107487039 - 107487039

 胃 癌;腺癌 替换-错义

c.1001T > C;p.L334P;9:107487393 - 107487393

 皮肤 malignant_melanoma 替换-错义

c.877C > T;p.P293S;9:107487517 - 107487517

 皮肤 malignant_melanoma 替换-错义

c.433C >;p.P145T;9:107487961 - 107487961

 前列腺癌 癌;腺癌 替换-错义

c.1100-8A > G;p。?。9:107487200 - 107487200

 皮肤 malignant_melanoma 未知的

c.272T > C;p.L91P;9:107488122 - 107488122

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.272T > C;p.L91P;9:107488122 - 107488122

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.272T > C;p.L91P;9:107488122 - 107488122

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.272T > C;p.L91P;9:107488122 - 107488122

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.202G >;p.A68T;9:107488192 - 107488192

 胃 癌;腺癌 替换-错义

c.341C > T;p.T114I;9:107488053 - 107488053

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.1027C >;p.H343N;9:107487367 - 107487367

 皮肤 malignant_melanoma 替换-错义

c.1318T > G;p.S440A;9:107485873 - 107485873

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1286A > T;p.D429V;9:107485905 - 107485905

 large_intestine;盲肠 癌;腺癌 替换-错义

c.614G >;p.R205Q;9:107487780 - 107487780

 large_intestine;结肠 癌;腺癌 替换-错义

c.1294G >;p.G432S;9:107485897 - 107485897

 食管 癌;腺癌 替换-错义

c.712C > T;p.P238S;9:107487682 - 107487682

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;diffuse_large_B_cell_lymphoma 替换-错义

c.901G > T;p.A301S;9:107487493 - 107487493

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1252C > T;p.R418 *;9:107487040 - 107487040

 食管 癌;腺癌 替换-胡说

c.1129G > T;p.E377 *;9:107487163 - 107487163

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.946A > C;p.T316P;9:107487448 - 107487448

 胰腺 癌 替换-错义

c.1203G > T;p.A401A;9:107487089 - 107487089

 食管 癌 替换-编码沉默

c.242C > T;p.A81V;9:107488152 - 107488152

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;diffuse_large_B_cell_lymphoma 替换-错义

c.919_920insC;p.L307fs * 16;9:107487474 - 107487475

 large_intestine;盲肠 癌;腺癌 插入——转移

c.1320A > G;p.S440S;9:107485871 - 107485871

 前列腺癌 癌 替换-编码沉默

c.916C > T;p.P306S;9:107487478 - 107487478

 皮肤 malignant_melanoma 替换-错义

c.1086G >;p.P362P;9:107487308 - 107487308

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1343G > C;p.R448P;9:107485848 - 107485848

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.1086G >;p.P362P;9:107487308 - 107487308

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.188A > G;p.Y63C;9:107488206 - 107488206

 食管 癌;腺癌 替换-错义

c.1312G > T;p.A438S;9:107485879 - 107485879

 肺 癌;腺癌 替换-错义

c.504C > T;p.G168G;9:107487890 - 107487890

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.504C > T;p.G168G;9:107487890 - 107487890

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.217G >;p.D73N;9:107488177 - 107488177

 urinary_tract;膀胱 癌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 胰腺 其他;腺瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.109G > T;p.A37S;9:107488947 - 107488947

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 乳房 癌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.109G > T;p.A37S;9:107488947 - 107488947

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 乳房 癌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤 替换-错义

c.1225A > C;p.K409Q;9:107487067 - 107487067

 脑膜 脑膜瘤;分泌 替换-错义

c.1243G >;p.A415T;9:107487049 - 107487049

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.335C > T;p.S112L;9:107488059 - 107488059

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.843G >;p.A281A;9:107487551 - 107487551

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1065G > C;p.Q355H;9:107487329 - 107487329

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1232C >;p.S411Y;9:107487060 - 107487060

 胰腺 癌 替换-错义

c.1204G > T;p.G402C;9:107487088 - 107487088

 肺;right_lower_lobe 癌;腺癌 替换-错义

c.288C >;p.T96T;9:107488106 - 107488106

 肺 癌;non_small_cell_carcinoma 替换-编码沉默

c.1148G > C;p.R383T;9:107487144 - 107487144

 乳房 癌 替换-错义

c.191A > T;p.D64V;9:107488203 - 107488203

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1137C > G;p.P379P;9:107487155 - 107487155

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-编码沉默

c.1137C > G;p.P379P;9:107487155 - 107487155

 urinary_tract;膀胱 癌 替换-编码沉默

c.411G >;p.S137S;9:107487983 - 107487983

 皮肤 malignant_melanoma 替换-编码沉默

c.1188C > T;p.H396H;9:107487104 - 107487104

 肺 癌;non_small_cell_carcinoma 替换-编码沉默

c.1364C > T;p.P455L;9:107485827 - 107485827

 食管 癌;腺癌 替换-错义

c.249C > T;p.C83C;9:107488145 - 107488145

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma 替换-编码沉默

c.1186C >;p.H396N;9:107487106 - 107487106

 胃 癌;腺癌 替换-错义

c.1232C > T;p.S411F;9:107487060 - 107487060

 食管 癌;腺癌 替换-错义

c.469G >;p.G157R;9:107487925 - 107487925

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.9G >;p.Q3Q;9:107489047 - 107489047

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.271C > T;p.L91L;9:107488123 - 107488123

 胃 癌;腺癌 替换-编码沉默

c.436T > G;p.S146A;9:107487958 - 107487958

 胃 癌;腺癌 替换-错义

c.1321G >;p.D441N;9:107485870 - 107485870

 large_intestine;结肠 癌;腺癌 替换-错义

c.1321G >;p.D441N;9:107485870 - 107485870

 large_intestine;结肠 癌;腺癌 替换-错义

c.1246C > T;p.H416Y;9:107487046 - 107487046

 large_intestine;结肠 癌;腺癌 替换-错义

c.1211G >;p.G404D;9:107487081 - 107487081

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

c.1180G >;p.A394T;9:107487112 - 107487112

 胃 癌;腺癌 替换-错义

c.1360C > T;p.R454C;9:107485831 - 107485831

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1403C > T;p.S468L;9:107485788 - 107485788

 胃 癌;腺癌 替换-错义

c.1227G > C;p.K409N;9:107487065 - 107487065

 前列腺癌 癌;腺癌 替换-错义

c.109G >;p.A37T;9:107488947 - 107488947

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.685T > C;p.F229L;9:107487709 - 107487709

 large_intestine 癌;腺癌 替换-错义

c.685T > C;p.F229L;9:107487709 - 107487709

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1255A > G;p.T419A;9:107487037 - 107487037

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;diffuse_large_B_cell_lymphoma 替换-错义

c.1322A > G;p.D441G;9:107485869 - 107485869

 腹膜;附录 其他;pseudomyxoma_peritonei 替换-错义

c.48G > T;p.L16L;9:107489008 - 107489008

 甲状腺 其他;肿瘤 替换-编码沉默

c.1040A > G;p.N347S;9:107487354 - 107487354

 large_intestine 癌;腺癌 替换-错义

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