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

5078年

的名字

PAX4

同义的

搭配4盒;PAX4;成对盒4

定义

成对盒基因4 |配对盒蛋白质Pax-4 |配对域基因4

位置

7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0.00。

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.510C > T;p.S170S;7:127613784 - 127613784

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.748-3delT;p。?。7:127611679 - 127611679

 食道;lower_third 癌;squamous_cell_carcinoma 未知的

c.754C > T;p.P252S;7:127611670 - 127611670

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.669C > G;p.L223L;7:127613044 - 127613044

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.809G > T;p.C270F;7:127611615 - 127611615

 肺 癌;腺癌 替换-错义

c.91C > G;p.R31G;7:127615430 - 127615430

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.163C > T;p.R55C;7:127615053 - 127615053

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 替换-错义

c.332C > T;p.P111L;7:127614884 - 127614884

 large_intestine;结肠 癌;腺癌 替换-错义

c.578G >;p.G193E;7:127613493 - 127613493

 皮肤 malignant_melanoma 替换-错义

c.150A > G;p.L50L;7:127615066 - 127615066

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.515G > C;p.S172T;7:127613779 - 127613779

 肺 癌;squamous_cell_carcinoma 替换-错义

c.796C > T;p.L266L;7:127611628 - 127611628

 肺 癌;腺癌 替换-编码沉默

c.164G >;p.R55H;7:127615052 - 127615052

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.164G >;p.R55H;7:127615052 - 127615052

 前列腺癌 癌;腺癌 替换-错义

c.289C > T;p.R97C;7:127614927 - 127614927

 large_intestine;直肠 癌;腺癌 替换-错义

c.344C >;p.S115Y;7:127614550 - 127614550

 肺 癌;squamous_cell_carcinoma 替换-错义

c.474C > T;p.H158H;7:127613820 - 127613820

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.950C > T;p.S317F;7:127611146 - 127611146

 皮肤 malignant_melanoma 替换-错义

c.473A > C;p.H158P;7:127613821 - 127613821

 胰腺 癌 替换-错义

c.681G > T;p.M227I;7:127613032 - 127613032

 large_intestine;结肠 癌;腺癌 替换-错义

c.475C > T;p.P159S;7:127613819 - 127613819

 皮肤 malignant_melanoma 替换-错义

c.171T > G;p.G57G;7:127615045 - 127615045

 乳房 癌 替换-编码沉默

c.868G > C;p.A290P;7:127611556 - 127611556

 肺 癌;腺癌 替换-错义

c.868G > C;p.A290P;7:127611556 - 127611556

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.652C > T;p.R218C;7:127613061 - 127613061

 食道;upper_third 癌;squamous_cell_carcinoma 替换-错义

c.496C > T;p.R166W;7:127613798 - 127613798

 胰腺 癌 替换-错义

c.111G >;p.R37R;7:127615410 - 127615410

 皮肤 malignant_melanoma 替换-编码沉默

c.652C > T;p.R218C;7:127613061 - 127613061

 前列腺癌 癌 替换-错义

c.280G >;p.E94K;7:127614936 - 127614936

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.197G >;p.G66E;7:127615019 - 127615019

 NS malignant_melanoma 替换-错义

c.197G >;p.G66E;7:127615019 - 127615019

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;hairy_cell_leukaemia 替换-错义

c.559C > T;p.P187S;7:127613512 - 127613512

 large_intestine;直肠 癌;腺癌 替换-错义

c.197G >;p.G66E;7:127615019 - 127615019

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;hairy_cell_leukaemia 替换-错义

c.56G >;p.R19Q;7:127615465 - 127615465

 食管 癌;腺癌 替换-错义

c.898C > T;p.P300S;7:127611198 - 127611198

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.15G >;p.G5G;7:127615506 - 127615506

 肺 癌;腺癌 替换-编码沉默

c.337-5C > T;p。?。7:127614562 - 127614562

 皮肤;树干 malignant_melanoma;结节性 未知的

c.431T > C;p.V144A;7:127613863 - 127613863

 large_intestine;结肠 癌;腺癌 替换-错义

c.224C > G;p.P75R;7:127614992 - 127614992

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.824G >;p.W275 *;7:127611600 - 127611600

 皮肤 malignant_melanoma 替换-胡说

c.490C > T;p.R164W;7:127613804 - 127613804

 large_intestine;直肠 癌;腺癌 替换-错义

c.980G >;p.G327D;7:127611116 - 127611116

 胃 癌;腺癌 替换-错义

c.682C > G;p.Q228E;7:127613031 - 127613031

 肺 癌;squamous_cell_carcinoma 替换-错义

c.700C >;p.Q234K;7:127611992 - 127611992

 肺 癌;腺癌 替换-错义

c.725C >;p.A242D;7:127611967 - 127611967

 肺 癌;腺癌 替换-错义

c.786C > T;p.A262A;7:127611638 - 127611638

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.440C > T;p.P147L;7:127613854 - 127613854

 肺 癌;腺癌 替换-错义

c.223C > T;p.P75S;7:127614993 - 127614993

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.931C >;p.L311I;7:127611165 - 127611165

 large_intestine;盲肠 癌;腺癌 替换-错义

c.668T >;p.L223H;7:127613045 - 127613045

 胃 癌;腺癌 替换-错义

c.620G >;p.R207K;7:127613451 - 127613451

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.538G >;p.E180K;7:127613756 - 127613756

 肺 癌;squamous_cell_carcinoma 替换-错义

c.3G > T;p.M1I;7:127615518 - 127615518

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.695C >;p.A232D;7:127611997 - 127611997

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.773C >;p.A258E;7:127611651 - 127611651

 large_intestine;结肠 癌;腺癌 替换-错义

c.559C >;p.P187T;7:127613512 - 127613512

 肺 癌;squamous_cell_carcinoma 替换-错义

c.358C >;p.L120M;7:127614536 - 127614536

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.809G > C;p.C270S;7:127611615 - 127611615

 肺 癌;腺癌 替换-错义

c.943T >;p.C315S;7:127611153 - 127611153

 皮肤 malignant_melanoma 替换-错义

c.849G >;p.L283L;7:127611575 - 127611575

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.849G >;p.L283L;7:127611575 - 127611575

 urinary_tract;膀胱 癌 替换-编码沉默

c.462C > T;p.P154P;7:127613832 - 127613832

 皮肤 malignant_melanoma 替换-编码沉默

c.657G > T;p.R219R;7:127613056 - 127613056

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.447T >;p.S149R;7:127613847 - 127613847

 肺 癌;腺癌 替换-错义

c.656G >;p.R219Q;7:127613057 - 127613057

 large_intestine;结肠 腺瘤 替换-错义

c.660A > G;p.Q220Q;7:127613053 - 127613053

 食管 癌;腺癌 替换-编码沉默

c.492G > T;p.R164R;7:127613802 - 127613802

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.70C > T;p.R24W;7:127615451 - 127615451

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.543C > T;p.F181F;7:127613528 - 127613528

 皮肤 malignant_melanoma 替换-编码沉默

c.573C >;p.A191A;7:127613498 - 127613498

 肺 癌;腺癌 替换-编码沉默

c.887G > C;p.W296S;7:127611537 - 127611537

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.638G >;p.R213K;7:127613075 - 127613075

 皮肤 malignant_melanoma 替换-错义

c.225T >;p.P75P;7:127614991 - 127614991

 肺 癌;腺癌 替换-编码沉默

c.109C > T;p.R37W;7:127615412 - 127615412

 urinary_tract;膀胱 癌 替换-错义

c.616G >;p.V206M;7:127613455 - 127613455

 large_intestine;直肠 癌;腺癌 替换-错义

c.407C >;p.S136 *;7:127614487 - 127614487

 皮肤 malignant_melanoma 替换-胡说

c.788T > C;p.L263P;7:127611636 - 127611636

 胃 癌;腺癌 替换-错义

c.399G >;p.R133R;7:127614495 - 127614495

 皮肤 malignant_melanoma 替换-编码沉默

c.788T > C;p.L263P;7:127611636 - 127611636

 large_intestine;结肠 癌;腺癌 替换-错义

c.663G >;p.E221E;7:127613050 - 127613050

 胃 癌;腺癌 替换-编码沉默

c.643G >;p.A215T;7:127613070 - 127613070

 皮肤 malignant_melanoma 替换-错义

c.413-3C > T;p。?。7:127613884 - 127613884

 胃 腺癌 未知的

c.484G >;p.G162S;7:127613810 - 127613810

 large_intestine;盲肠 癌;腺癌 替换-错义

c.465G > T;p.R155R;7:127613829 - 127613829

 乳房 癌 替换-编码沉默

c.91C > T;p.R31W;7:127615430 - 127615430

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.39C >;p.P13P;7:127615482 - 127615482

 肺 癌;腺癌 替换-编码沉默

c.91C > T;p.R31W;7:127615430 - 127615430

 卵巢 其他;肿瘤 替换-错义

c.91C > T;p.R31W;7:127615430 - 127615430

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.73C >;p.L25I;7:127615448 - 127615448

 胃 癌;腺癌 替换-错义

c.668T > C;p.L223P;7:127613045 - 127613045

 large_intestine;结肠 癌;腺癌 替换-错义

c.748-3delT;p。?。7:127611679 - 127611679

 central_nervous_system;颞顶 神经胶质瘤;astrocytoma_Grade_II 未知的

c.323A > G;p.D108G;7:127614893 - 127614893

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.909G >;p.P303P;7:127611187 - 127611187

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.348C > T;p.I116I;7:127614546 - 127614546

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.637A > G;p.R213G;7:127613076 - 127613076

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.724G > T;p.A242S;7:127611968 - 127611968

 肺 癌;腺癌 替换-错义

c.507C > T;p.F169F;7:127613787 - 127613787

 皮肤 malignant_melanoma 替换-编码沉默

c.512C >;p.P171Q;7:127613782 - 127613782

 肝 癌;hepatocellular_carcinoma 替换-错义

c.843G >;p.R281R;7:127611581 - 127611581

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.10C >;p.L4I;7:127615511 - 127615511

 胃 癌;腺癌 替换-错义

c.550G > T;p.G184W;7:127613521 - 127613521

 肺 癌;腺癌 替换-错义

c.575G >;p.R192H;7:127613496 - 127613496

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.676G >;p.E226K;7:127613037 - 127613037

 皮肤 malignant_melanoma 替换-错义

c.836C >;p.P279Q;7:127611588 - 127611588

 乳房 癌 替换-错义

c.543C >;p.F181L;7:127613528 - 127613528

 urinary_tract;膀胱 癌 替换-错义

c.290G >;p.R97H;7:127614926 - 127614926

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

c.385C > T;p.L129L;7:127614509 - 127614509

 皮肤 malignant_melanoma 替换-编码沉默

c.290G >;p.R97H;7:127614926 - 127614926

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

c.758G > T;p.G253V;7:127611666 - 127611666

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.748-3_748-2insT;p。?。7:127611678 - 127611679

 胃 癌;diffuse_adenocarcinoma 未知的

c.748-3_748-2insT;p。?。7:127611678 - 127611679

 食道;middle_third 癌;squamous_cell_carcinoma 未知的

c.390G >;p.P130P;7:127614504 - 127614504

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.283A > G;p.I95V;7:127614933 - 127614933

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.319C >;p.Q107K;7:127614897 - 127614897

 肺 癌;squamous_cell_carcinoma 替换-错义

c.497G > T;p.R166L;7:127613797 - 127613797

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.658C > G;p.Q220E;7:127613055 - 127613055

 upper_aerodigestive_tract;喉 癌;squamous_cell_carcinoma 替换-错义

c.10C > T;p.L4F;7:127615511 - 127615511

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.199A > T;p.S67C;7:127615017 - 127615017

 upper_aerodigestive_tract;喉 癌;squamous_cell_carcinoma 替换-错义

c.940C > T;p.P314S;7:127611156 - 127611156

 皮肤 malignant_melanoma 替换-错义

c.821G >;p.C274Y;7:127611603 - 127611603

 骨;extraskeletal Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.715C >;p.P239T;7:127611977 - 127611977

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.190A > T;p.I64F;7:127615026 - 127615026

 食道;middle_third 癌;squamous_cell_carcinoma 替换-错义

c.587C > G;p.A196G;7:127613484 - 127613484

 皮肤 malignant_melanoma 替换-错义

c.1014A > T;p.L338L;7:127611082 - 127611082

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.574C > G;p.R192G;7:127613497 - 127613497

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.915C > T;p.S305S;7:127611181 - 127611181

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.141C >;p.S47R;7:127615075 - 127615075

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.901C >;p.P301T;7:127611195 - 127611195

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.857C > T;p.T286I;7:127611567 - 127611567

 large_intestine 癌;腺癌 替换-错义

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