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

339967年

的名字

TMPRSS11A

同义的

跨膜蛋白,丝氨酸11;TMPRSS11A;跨膜蛋白酶、丝氨酸11

定义

气道trypsin-like蛋白酶1 |表皮II型跨膜丝氨酸蛋白酶|表皮ⅱ型跨膜丝氨酸蛋白酶|食管肿瘤易感基因1 |跨膜蛋白的蛋白酶丝氨酸11

位置

4 q13.2

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0.09。

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.366G >;p.M122I;4:67930004 - 67930004

 皮肤 malignant_melanoma 替换-错义

c.910C >;p.Q304K;4:67919024 - 67919024

 甲状腺 癌;anaplastic_carcinoma 替换-错义

c.843C >;p.V281V;4:67919091 - 67919091

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1073G >;p.G358E;4:67914619 - 67914619

 皮肤 malignant_melanoma 替换-错义

c.255G >;p.V85V;4:67944516 - 67944516

 皮肤 malignant_melanoma 替换-编码沉默

c.906C > T;p.S302S;4:67919028 - 67919028

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.954delC;p.Y319fs * 14;4:67918980 - 67918980

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 删除——转移

c.257G >;p.S86N;4:67944514 - 67944514

 large_intestine;结肠 癌;腺癌 替换-错义

c.856A > C;p.T286P;4:67919078 - 67919078

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

c.628G >;p.D210N;4:67922828 - 67922828

 肺 癌;squamous_cell_carcinoma 替换-错义

c.723G > T;p.W241C;4:67919211 - 67919211

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1105-7T > G;p。?。4:67911510 - 67911510

 食道;lower_third 癌;腺癌 未知的

c.483A > C;p.Q161H;4:67929887 - 67929887

 食管 癌;腺癌 替换-错义

c.931A > G;p.I311V;4:67919003 - 67919003

 胃 癌;腺癌 替换-错义

c.878A > G;p.Q293R;4:67919056 - 67919056

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1158C >;p.L386L;4:67911450 - 67911450

 肺 癌;腺癌 替换-编码沉默

c.1178G >;p.G393E;4:67911430 - 67911430

 皮肤 malignant_melanoma 替换-错义

c.1178G >;p.G393E;4:67911430 - 67911430

 乳房 癌 替换-错义

c.379C > T;p.P127S;4:67929991 - 67929991

 皮肤 malignant_melanoma 替换-错义

c.64G >;p.V22I;4:67946519 - 67946519

 large_intestine;结肠 癌;腺癌 替换-错义

c.874C > T;p.R292C;4:67919060 - 67919060

 large_intestine;直肠 腺瘤 替换-错义

c.262-1G > C;p。?。4:67932061 - 67932061

 食管 癌;腺癌 未知的

c.874C > T;p.R292C;4:67919060 - 67919060

 前列腺癌 癌 替换-错义

c.232C > T;p.R78 *;4:67944539 - 67944539

 large_intestine;结肠 癌;腺癌 替换-胡说

c.542G >;p.R181Q;4:67922914 - 67922914

 皮肤 malignant_melanoma 替换-错义

c.1118G >;p.G373E;4:67911490 - 67911490

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.43C >;p.L15M;4:67946540 - 67946540

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.822C > T;p.Y274Y;4:67919112 - 67919112

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.822C > T;p.Y274Y;4:67919112 - 67919112

 子宫颈 癌;squamous_cell_carcinoma 替换-编码沉默

c.416T >;p.I139N;4:67929954 - 67929954

 large_intestine;直肠 癌;腺癌 替换-错义

c.877C > T;p.Q293 *;4:67919057 - 67919057

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1266A > G;p。* 422 *;4:67911342 - 67911342

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.217C >;p.Q73K;4:67944554 - 67944554

 肺 癌;腺癌 替换-错义

c.969C > T;p.S323S;4:67914723 - 67914723

 肺 癌;腺癌 替换-编码沉默

c.523C > T;p.Q175 *;4:67924134 - 67924134

 皮肤 malignant_melanoma 替换-胡说

c.1045G >;p.D349N;4:67914647 - 67914647

 皮肤 malignant_melanoma 替换-错义

c.1045G >;p.D349N;4:67914647 - 67914647

 皮肤 malignant_melanoma 替换-错义

c.1188T > C;p.C396C;4:67911420 - 67911420

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.63C >;p.A21A;4:67946520 - 67946520

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.992G >;p.R331K;4:67914700 - 67914700

 皮肤 malignant_melanoma 替换-错义

c.737G >;p.G246E;4:67919197 - 67919197

 皮肤 malignant_melanoma 替换-错义

c.217C > T;p.Q73 *;4:67944554 - 67944554

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1197G >;p.K399K;4:67911411 - 67911411

 肾脏 癌;papillary_renal_cell_carcinoma 替换-编码沉默

c.3G >;p.M1I;4:67963391 - 67963391

 large_intestine 癌;腺癌 替换-错义

c.3G >;p.M1I;4:67963391 - 67963391

 胃 癌;腺癌 替换-错义

c.3G >;p.M1I;4:67963391 - 67963391

 large_intestine 癌;腺癌 替换-错义

c.470C > T;p.A157V;4:67929900 - 67929900

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.100A > G;p.T34A;4:67946483 - 67946483

 large_intestine;结肠 癌;腺癌 替换-错义

c.946G > T;p.A316S;4:67918988 - 67918988

 biliary_tract;胆囊 癌;腺癌 替换-错义

c.212C >;p.T71K;4:67944559 - 67944559

 肺 癌;腺癌 替换-错义

c.495G > T;p.M165I;4:67924162 - 67924162

 肺 癌;squamous_cell_carcinoma 替换-错义

c.559G >;p.V187I;4:67922897 - 67922897

 large_intestine;盲肠 癌;腺癌 替换-错义

c.239C > T;p.T80M;4:67944532 - 67944532

 large_intestine;直肠 癌;腺癌 替换-错义

c.239C > T;p.T80M;4:67944532 - 67944532

 large_intestine;结肠 癌;腺癌 替换-错义

c.235G >;p.E79K;4:67944536 - 67944536

 皮肤 malignant_melanoma 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 large_intestine;盲肠 癌;腺癌 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 乳房 癌 替换-错义

c.673C >;p.L225I;4:67922783 - 67922783

 large_intestine;结肠 癌;腺癌 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 large_intestine;盲肠 癌;腺癌 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 large_intestine;直肠 癌;腺癌 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 皮肤 malignant_melanoma 替换-错义

c.863C > T;p.S288L;4:67919071 - 67919071

 large_intestine;结肠 癌;腺癌 替换-错义

c.312C >;p.N104K;4:67932010 - 67932010

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.937G > T;p.G313 *;4:67918997 - 67918997

 large_intestine;结肠 癌;腺癌 替换-胡说

c.781T > G;p.F261V;4:67919153 - 67919153

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.208A > G;p.N70D;4:67944563 - 67944563

 肝 癌 替换-错义

c.712C > T;p.P238S;4:67919222 - 67919222

 肺 癌;腺癌 替换-错义

c.511G > T;p.E171 *;4:67924146 - 67924146

 upper_aerodigestive_tract;喉 癌;squamous_cell_carcinoma 替换-胡说

c.487A > C;p.N163H;4:67929883 - 67929883

 肺 癌;腺癌 替换-错义

c.63C > G;p.A21A;4:67946520 - 67946520

 肺 癌;腺癌 替换-编码沉默

c.1255A > T;p.T419S;4:67911353 - 67911353

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.968C > G;p.S323C;4:67914724 - 67914724

 肺 癌;腺癌 替换-错义

c.260A > G;p.Q87R;4:67944511 - 67944511

 large_intestine;结肠 癌;腺癌 替换-错义

c.953A > T;p.Y318F;4:67918981 - 67918981

 胰腺 癌 替换-错义

c.953A > T;p.Y318F;4:67918981 - 67918981

 胰腺 癌 替换-错义

c.57G >;p.M19I;4:67946526 - 67946526

 皮肤;head_neck malignant_melanoma;superficial_spreading 替换-错义

c.915A > C;p.P305P;4:67919019 - 67919019

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-编码沉默

c.595G >;p.A199T;4:67922861 - 67922861

 肺 癌;腺癌 替换-错义

c.541C > T;p.R181 *;4:67922915 - 67922915

 胃 癌;腺癌 替换-胡说

c.119A > G;p.H40R;4:67946464 - 67946464

 胃 癌;腺癌 替换-错义

c.303T >;p.Y101 *;4:67932019 - 67932019

 肝 癌 替换-胡说

c.303T >;p.Y101 *;4:67932019 - 67932019

 肝 癌 替换-胡说

c.116T > C;p.V39A;4:67946467 - 67946467

 乳房 癌 替换-错义

c.1007G >;p.S336N;4:67914685 - 67914685

 胃 癌;腺癌 替换-错义

c.1012G >;p.D338N;4:67914680 - 67914680

 large_intestine;结肠 癌;腺癌 替换-错义

c.296A > T;p.K99I;4:67932026 - 67932026

 皮肤 malignant_melanoma 替换-错义

c.250T > G;p.L84V;4:67944521 - 67944521

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.378C >;p.F126L;4:67929992 - 67929992

 肺 癌;腺癌 替换-错义

c.526G >;p.A176T;4:67924131 - 67924131

 large_intestine 癌;腺癌 替换-错义

c.424A > C;p.I142L;4:67929946 - 67929946

 皮肤 malignant_melanoma 替换-错义

c.94G >;p.A32T;4:67946489 - 67946489

 large_intestine;结肠 癌;腺癌 替换-错义

c.1114G > T;p.G372W;4:67911494 - 67911494

 肺 癌;腺癌 替换-错义

c.1104 + 2 t >;p。?。4:67914586 - 67914586

 large_intestine;盲肠 癌;腺癌 未知的

c.793G >;p.E265K;4:67919141 - 67919141

 urinary_tract;膀胱 癌 替换-错义

c.90G >;p.V30V;4:67946493 - 67946493

 皮肤 malignant_melanoma 替换-编码沉默

c.309G > C;p.K103N;4:67932013 - 67932013

 肺 癌;腺癌 替换-错义

c.877C >;p.Q293K;4:67919057 - 67919057

 前列腺癌 癌;腺癌 替换-错义

c.779G > T;p.R260I;4:67919155 - 67919155

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.294G >;p.K98K;4:67932028 - 67932028

 皮肤 malignant_melanoma 替换-编码沉默

c.977A > G;p.D326G;4:67914715 - 67914715

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.143delA;p.K48fs * 11;4:67944628 - 67944628

 large_intestine;结肠 癌;腺癌 删除——转移

c.143delA;p.K48fs * 11;4:67944628 - 67944628

 large_intestine;结肠 癌;腺癌 删除——转移

c.1090T > C;p.Y364H;4:67914602 - 67914602

 large_intestine;结肠 癌;腺癌 替换-错义

c.713C >;p.P238Q;4:67919221 - 67919221

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1045G > C;p.D349H;4:67914647 - 67914647

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.244G >;p.E82K;4:67944527 - 67944527

 皮肤 malignant_melanoma 替换-错义

c.244G >;p.E82K;4:67944527 - 67944527

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.244G >;p.E82K;4:67944527 - 67944527

 皮肤 malignant_melanoma 替换-错义

c.752C >;p.P251H;4:67919182 - 67919182

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.938G >;p.G313E;4:67918996 - 67918996

 皮肤 malignant_melanoma 替换-错义

c.1235G >;p.R412Q;4:67911373 - 67911373

 皮肤 malignant_melanoma 替换-错义

c.605C >;p.P202H;4:67922851 - 67922851

 卵巢 其他;肿瘤 替换-错义

c.1035G >;p.V345V;4:67914657 - 67914657

 large_intestine 癌;腺癌 替换-编码沉默

c.921G > C;p.L307F;4:67919013 - 67919013

 乳房 癌 替换-错义

c.745A > C;p.I249L;4:67919189 - 67919189

 large_intestine;结肠 癌;腺癌 替换-错义

c.306C > T;p.I102I;4:67932016 - 67932016

 乳房 癌 替换-编码沉默

c.32G >;p.R11Q;4:67946551 - 67946551

 胰腺 癌 替换-错义

c.1011T > C;p.D337D;4:67914681 - 67914681

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.32G >;p.R11Q;4:67946551 - 67946551

 皮肤 malignant_melanoma 替换-错义

c.1011T > C;p.D337D;4:67914681 - 67914681

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1186T >;p.C396S;4:67911422 - 67911422

 biliary_tract;bile_duct 癌;腺癌 替换-错义

c.32G >;p.R11Q;4:67946551 - 67946551

 肺 癌;腺癌 替换-错义

c.1011T > C;p.D337D;4:67914681 - 67914681

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.1011T > C;p.D337D;4:67914681 - 67914681

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.1011T > C;p.D337D;4:67914681 - 67914681

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.411G >;p.K137K;4:67929959 - 67929959

 皮肤 malignant_melanoma 替换-编码沉默

c.983G >;p.R328Q;4:67914709 - 67914709

 胃 癌;腺癌 替换-错义

c.198C > T;p.F66F;4:67944573 - 67944573

 皮肤 malignant_melanoma 替换-编码沉默

c.983G >;p.R328Q;4:67914709 - 67914709

 large_intestine;结肠 癌;腺癌 替换-错义

c.227A > C;p.D76A;4:67944544 - 67944544

 食管 癌;腺癌 替换-错义

c.243C > T;p.T81T;4:67944528 - 67944528

 胃 癌;腺癌 替换-编码沉默

c.243C > T;p.T81T;4:67944528 - 67944528

 甲状腺 其他;肿瘤 替换-编码沉默

c.596C > T;p.A199V;4:67922860 - 67922860

 large_intestine;结肠 癌;腺癌 替换-错义

c.596C > T;p.A199V;4:67922860 - 67922860

 皮肤;腹部 malignant_melanoma 替换-错义

c.270G > T;p.E90D;4:67932052 - 67932052

 large_intestine;直肠 癌;腺癌 替换-错义

c.511G >;p.E171K;4:67924146 - 67924146

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1238A > G;p.N413S;4:67911370 - 67911370

 肝 癌 替换-错义

c.1085G >;p.G362E;4:67914607 - 67914607

 皮肤 malignant_melanoma 替换-错义

c.1085G >;p.G362E;4:67914607 - 67914607

 皮肤 malignant_melanoma 替换-错义

c.18G >;p.V6V;4:67946565 - 67946565

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.596C >;p.A199E;4:67922860 - 67922860

 肺 癌;small_cell_carcinoma 替换-错义

c.313C >;p.Q105K;4:67932009 - 67932009

 卵巢 癌;serous_carcinoma 替换-错义

c.313C >;p.Q105K;4:67932009 - 67932009

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.981C > G;p.L327L;4:67914711 - 67914711

 肺 癌;腺癌 替换-编码沉默

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