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

27086年

的名字

FOXP1

同义的

forkhead盒P1; FOXP1 forkhead盒子P1

定义

叉head-related蛋白质像B | forkhead盒蛋白P1 | 1 |多因素mac-1-regulated forkhead

位置

3 p14.1

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0.16。

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.499C > T;p.Q167 *;3:71052548 - 71052548

 乳房 癌 替换-胡说

c.277C > T;p.L93F;3:71112541 - 71112541

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1544A > G;p.H515R;3:70972663 - 70972663

 前列腺癌 癌 替换-错义

c.123G >;p.T41T;3:71198259 - 71198259

 胃 癌;腺癌 替换-编码沉默

c.1428 + 1 g > C;p。?。3:70977642 - 70977642

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.1428 + 1 g > C;p。?。3:70977642 - 70977642

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.603C > T;p.R201R;3:71047003 - 71047003

 胃 癌;腺癌 替换-编码沉默

c.1711G >;p.A571T;3:70970747 - 70970747

 肺 癌;non_small_cell_carcinoma 替换-错义

c.59C > T;p.S20L;3:71198323 - 71198323

 large_intestine;盲肠 癌;腺癌 替换-错义

c.64G > C;p.G22R;3:71198318 - 71198318

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.1510C > G;p.R504G;3:70976961 - 70976961

 乳房 癌 替换-错义

c.126G >;p.P42P;3:71198256 - 71198256

 皮肤 malignant_melanoma 替换-编码沉默

c.45C >;p.A15A;3:71198337 - 71198337

 皮肤 malignant_melanoma 替换-编码沉默

c.1916C >;p.P639H;3:70959365 - 70959365

 肝 癌 替换-错义

c.1832A > G;p.E611G;3:70965947 - 70965947

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1027G > T;p.V343L;3:71001007 - 71001007

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.212A > G;p.Q71R;3:71112606 - 71112606

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1228C >;p.P410T;3:70977948 - 70977948

 卵巢 其他;肿瘤 替换-错义

c.783_784CT > CT;p.S261 > ?3:71041413 - 71041414

 肺 癌;腺癌 复杂的

c.1591G > T;p.G531W;3:70972616 - 70972616

 肺 癌;腺癌 替换-错义

c.258G >;p.R86R;3:71112560 - 71112560

 皮肤 malignant_melanoma 替换-编码沉默

c.1344G >;p.S448S;3:70977832 - 70977832

 肝 癌 替换-编码沉默

c.258G >;p.R86R;3:71112560 - 71112560

 皮肤 malignant_melanoma 替换-编码沉默

c.1344G >;p.S448S;3:70977832 - 70977832

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1344G >;p.S448S;3:70977832 - 70977832

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.639C > T;p.A213A;3:71046967 - 71046967

 皮肤 malignant_melanoma 替换-编码沉默

c.2022G > T;p.E674D;3:70959259 - 70959259

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.519G > T;p.Q173H;3:71047087 - 71047087

 胃 癌;腺癌 替换-错义

c.1258G > T;p.G420C;3:70977918 - 70977918

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.811A > C;p.M271L;3:71041386 - 71041386

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1141C > T;p.Q381 *;3:70987999 - 70987999

 urinary_tract;膀胱 癌 替换-胡说

c.643C > T;p.P215S;3:71046963 - 71046963

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1100C > G;p.T367S;3:70988040 - 70988040

 皮肤 malignant_melanoma 替换-错义

c.1240_1241delCT;p.L414fs * 46;3:70977935 - 70977936

 乳房 癌 删除——转移

c.1220C > T;p.P407L;3:70977956 - 70977956

 皮肤 malignant_melanoma 替换-错义

c.1220C > T;p.P407L;3:70977956 - 70977956

 肝 癌;hepatocellular_carcinoma 替换-错义

c.1282A > G;p.S428G;3:70977894 - 70977894

 upper_aerodigestive_tract;咽 癌;squamous_cell_carcinoma 替换-错义

c.130G >;p.V44M;3:71198252 - 71198252

 large_intestine;结肠 癌;腺癌 替换-错义

c.1573C > T;p.R525 *;3:70972634 - 70972634

 large_intestine;结肠 癌;腺癌 替换-胡说

c.767C > T;p.T256M;3:71041430 - 71041430

 urinary_tract;膀胱 癌 替换-错义

c.1540C > T;p.R514C;3:70972667 - 70972667

 乳房 癌 替换-错义

c.1540C > T;p.R514C;3:70972667 - 70972667

 large_intestine;盲肠 癌;腺癌 替换-错义

c.497_498delAA;p.K166fs * 3;3:71052549 - 71052550

 large_intestine;直肠 癌;腺癌 删除——转移

c.754T >;p.L252M;3:71041443 - 71041443

 甲状腺 其他;肿瘤 替换-错义

c.493G > C;p.G165R;3:71052554 - 71052554

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.1934C >;p.A645D;3:70959347 - 70959347

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1475A > G;p.Y492C;3:70976996 - 70976996

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma 替换-错义

c.510 + 5 delc;p。?。3:71052532 - 71052532

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 未知的

c.2002G >;p.E668K;3:70959279 - 70959279

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.2002G >;p.E668K;3:70959279 - 70959279

 皮肤;粘膜 malignant_melanoma 替换-错义

c.2002G >;p.E668K;3:70959279 - 70959279

 皮肤 malignant_melanoma 替换-错义

c.140G >;p.G47E;3:71198242 - 71198242

 皮肤 malignant_melanoma 替换-错义

c.1022G >;p.C341Y;3:71001012 - 71001012

 large_intestine 癌;腺癌 替换-错义

c.630_631GC TT >;p.Q211 *;3:71046975 - 71046976

 前列腺癌 癌;腺癌 替换-胡说

c.1022G >;p.C341Y;3:71001012 - 71001012

 large_intestine;结肠 癌 替换-错义

c.1348 + 1 g > T;p。?。3:70977827 - 70977827

 乳房 癌 未知的

c.1400C >;p.P467Q;3:70977671 - 70977671

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.665-1G >;p。?。3:71041533 - 71041533

 乳房 癌 未知的

c.1387G >;p.E463K;3:70977684 - 70977684

 large_intestine;结肠 癌;腺癌 替换-错义

c.1430C > T;p.A477V;3:70977041 - 70977041

 食道;lower_third 癌;squamous_cell_carcinoma 替换-错义

c.653C > T;p.P218L;3:71046953 - 71046953

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.1374T > G;p.F458L;3:70977697 - 70977697

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.924C > T;p.C308C;3:71015599 - 71015599

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.2026A > G;p.M676V;3:70959255 - 70959255

 large_intestine 癌;腺癌 替换-错义

c.2026A > G;p.M676V;3:70959255 - 70959255

 large_intestine 癌;腺癌 替换-错义

c.81A > G;p.L27L;3:71198301 - 71198301

 脑膜 脑膜瘤 替换-编码沉默

c.1235C > T;p.A412V;3:70977941 - 70977941

 皮肤 malignant_melanoma 替换-错义

c.87C > T;p.C29C;3:71198295 - 71198295

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 胃 癌;腺癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 肝 癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 肝 癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 肝 癌 替换-编码沉默

c.87C > T;p.C29C;3:71198295 - 71198295

 胃 癌;腺癌 替换-编码沉默

c.1849G >;p.E617K;3:70965930 - 70965930

 胃 癌;腺癌 替换-错义

c.858delC;p.R288fs * 37;3:71041339 - 71041339

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 删除——转移

c.1162A > G;p.S388G;3:70978014 - 70978014

 large_intestine 癌;腺癌 替换-错义

c.447_448insA;p.Q150fs * 20;3:71052599 - 71052600

 large_intestine;结肠 癌;腺癌 插入——转移

c.486_488delACA;p.Q162delQ;3:71052559 - 71052561

 large_intestine;结肠 癌;腺癌 删除——在坐标系

c.1516G >;p.A506T;3:70976955 - 70976955

 large_intestine;结肠 癌;腺癌 替换-错义

c.1267G > T;p.V423F;3:70977909 - 70977909

 肺;middle_lobe 癌;腺癌 替换-错义

c.180 + 1 g > T;p。?。3:71198201 - 71198201

 食管 癌;腺癌 未知的

c.1558C > T;p.H520Y;3:70972649 - 70972649

 皮肤 malignant_melanoma 替换-错义

c.862A > G;p.R288G;3:71041335 - 71041335

 胃 癌;腺癌 替换-错义

c.919G > T;p.V307L;3:71015604 - 71015604

 肾脏 其他;肿瘤 替换-错义

c.1876C > T;p.P626S;3:70965903 - 70965903

 皮肤 malignant_melanoma 替换-错义

c.1851G >;p.E617E;3:70965928 - 70965928

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.1030C > T;p.Q344 *;3:71001004 - 71001004

 large_intestine;盲肠 癌;腺癌 替换-胡说

c.630G > T;p.G210G;3:71046976 - 71046976

 前列腺癌 癌;腺癌 替换-编码沉默

c.1520C > G;p.A507G;3:70976951 - 70976951

 胃 癌;腺癌 替换-错义

c.988G > C;p.E330Q;3:71001046 - 71001046

 urinary_tract;膀胱 癌 替换-错义

c.251C > T;p.P84L;3:71112567 - 71112567

 食管 癌;腺癌 替换-错义

c.1553_1564del12;p.L519_C522delLHKC;3:70972643 - 70972654

 前列腺癌 癌 删除——在坐标系

c.251C > T;p.P84L;3:71112567 - 71112567

 食管 癌;腺癌 替换-错义

c.631C > G;p.Q211E;3:71046975 - 71046975

 central_nervous_system;丘脑 神经胶质瘤;astrocytoma_Grade_II 替换-错义

c.1343C > T;p.S448L;3:70977833 - 70977833

 large_intestine;结肠 癌;腺癌 替换-错义

c.1535C > T;p.A512V;3:70972672 - 70972672

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1343C > T;p.S448L;3:70977833 - 70977833

 皮肤 malignant_melanoma 替换-错义

c.1343C > T;p.S448L;3:70977833 - 70977833

 皮肤 malignant_melanoma 替换-错义

c.1343C > T;p.S448L;3:70977833 - 70977833

 large_intestine;结肠 癌;腺癌 替换-错义

c.1535C > T;p.A512V;3:70972672 - 70972672

 upper_aerodigestive_tract;口 癌 替换-错义

c.97C > T;p.R33W;3:71198285 - 71198285

 皮肤 malignant_melanoma 替换-错义

c.97C > T;p.R33W;3:71198285 - 71198285

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.97C > T;p.R33W;3:71198285 - 71198285

 胃 癌;腺癌 替换-错义

c.1871G > T;p.R624I;3:70965908 - 70965908

 肺 癌;腺癌 替换-错义

c.1003G >;p.D335N;3:71001031 - 71001031

 upper_aerodigestive_tract;咽 癌;squamous_cell_carcinoma 替换-错义

c.582G > T;p.Q194H;3:71047024 - 71047024

 large_intestine;结肠 癌;腺癌 替换-错义

c.420G > T;p.Q140H;3:71053636 - 71053636

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1630C > T;p.R544 *;3:70972577 - 70972577

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1294G >;p.V432M;3:70977882 - 70977882

 食道;middle_third 癌;squamous_cell_carcinoma 替换-错义

c.174_176delGCA;p.Q60delQ;3:71198206 - 71198208

 皮肤 malignant_melanoma 删除——在坐标系

c.129C > T;p.A43A;3:71198253 - 71198253

 胃 癌;腺癌 替换-编码沉默

c.1809G > T;p.R603R;3:70965970 - 70965970

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.174_176delGCA;p.Q60delQ;3:71198206 - 71198208

 皮肤 malignant_melanoma 删除——在坐标系

c.174_176delGCA;p.Q60delQ;3:71198206 - 71198208

 large_intestine;结肠 癌;腺癌 删除——在坐标系

c.644_645CC TT >;p.P215L;3:71046961 - 71046962

 皮肤;粘膜 malignant_melanoma 替换-错义

c.1673A > G;p.N558S;3:70970785 - 70970785

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1614A > G;p.E538E;3:70972593 - 70972593

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1644G >;p.K548K;3:70972563 - 70972563

 皮肤 malignant_melanoma 替换-编码沉默

c.1087C > T;p.Q363 *;3:70988053 - 70988053

 前列腺癌 癌;腺癌 替换-胡说

c.1541G >;p.R514H;3:70972666 - 70972666

 large_intestine;结肠 癌;腺癌 替换-错义

c.1543C > T;p.H515Y;3:70972664 - 70972664

 urinary_tract;膀胱 癌 替换-错义

c.370C > T;p.Q124 *;3:71053686 - 71053686

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1543C > T;p.H515Y;3:70972664 - 70972664

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.634C > G;p.P212A;3:71046972 - 71046972

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.1800C > T;p.S600S;3:70965979 - 70965979

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.127G > T;p.A43S;3:71198255 - 71198255

 前列腺癌 癌;腺癌 替换-错义

c.1723G > T;p.A575S;3:70966056 - 70966056

 large_intestine;结肠 癌;腺癌 替换-错义

c.880G >;p.E294K;3:71015643 - 71015643

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1017C >;p.A339A;3:71001017 - 71001017

 urinary_tract;膀胱 癌 替换-编码沉默

c.1812A > G;p.E604E;3:70965967 - 70965967

 肺 癌;腺癌 替换-编码沉默

c.975-9T > G;p。?。3:71001068 - 71001068

 large_intestine;结肠 癌;腺癌 未知的

c.1249G >;p.V417I;3:70977927 - 70977927

 large_intestine 癌;腺癌 替换-错义

c.1372T >;p.F458I;3:70977699 - 70977699

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1808G >;p.R603Q;3:70965971 - 70965971

 肺 癌;non_small_cell_carcinoma 替换-错义

c.1635G > T;p.R545S;3:70972572 - 70972572

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1176C > T;p.S392S;3:70978000 - 70978000

 肝 癌 替换-编码沉默

c.1439A > G;p.E480G;3:70977032 - 70977032

 胰腺 癌 替换-错义

c.757G >;p.D253N;3:71041440 - 71041440

 肺 癌;腺癌 替换-错义

c.38G >;p.G13D;3:71198344 - 71198344

 皮肤 malignant_melanoma 替换-错义

c.1219C > G;p.P407A;3:70977957 - 70977957

 乳房 癌;basal_ _carcinoma(三阴性) 替换-错义

c.739A > G;p.N247D;3:71041458 - 71041458

 胃 癌;腺癌 替换-错义

c.1921G >;p.D641N;3:70959360 - 70959360

 皮肤 malignant_melanoma 替换-错义

c.180G >;p.Q60Q;3:71198202 - 71198202

 皮肤 malignant_melanoma 替换-编码沉默

c.1035G > C;p.M345I;3:71000999 - 71000999

 肺 癌;腺癌 替换-错义

c.1697G > C;p.C566S;3:70970761 - 70970761

 胰腺 癌 替换-错义

c.183A > G;p.A61A;3:71112635 - 71112635

 乳房 癌 替换-编码沉默

c.53A > G;p.N18S;3:71198329 - 71198329

 adrenal_gland;adrenal_gland adrenal_cortical_carcinoma;功能 替换-错义

c.1748C > G;p.P583R;3:70966031 - 70966031

 皮肤;粘膜 malignant_melanoma 替换-错义

c.1821C > T;p.N607N;3:70965958 - 70965958

 胃 癌;腺癌 替换-编码沉默

c.1821C > T;p.N607N;3:70965958 - 70965958

 胃 癌;腺癌 替换-编码沉默

c.1146 + 5 g > C;p。?。3:70987989 - 70987989

 前列腺癌 癌 未知的

c.122C > T;p.T41M;3:71198260 - 71198260

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1468G > T;p.E490 *;3:70977003 - 70977003

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.421C >;p.Q141K;3:71052626 - 71052626

 皮肤;腿 malignant_melanoma 替换-错义

c.2034A > T;p。* 678 c;3:70959247 - 70959247

 肺;right_upper_lobe 癌;腺癌 不间断的扩展

c.1905C > G;p.V635V;3:70959376 - 70959376

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.408C > T;p.L136L;3:71053648 - 71053648

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.638C > T;p.A213V;3:71046968 - 71046968

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1312C > T;p.R438W;3:70977864 - 70977864

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1830G > T;p.M610I;3:70965949 - 70965949

 胃 癌;腺癌 替换-错义

c.114C > T;p.N38N;3:71198268 - 71198268

 large_intestine 癌;腺癌 替换-编码沉默

c.1582A > C;p.N528H;3:70972625 - 70972625

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.838C > T;p.Q280 *;3:71041359 - 71041359

 肺 癌;squamous_cell_carcinoma 替换-胡说

c.1146 + 1 g >;p。?。3:70987993 - 70987993

 卵巢 癌;serous_carcinoma 未知的

c.430C > T;p.Q144 *;3:71052617 - 71052617

 large_intestine;结肠 癌;腺癌 替换-胡说

c.631C > T;p.Q211 *;3:71046975 - 71046975

 前列腺癌 癌;腺癌 替换-胡说

c.1299A > G;p.G433G;3:70977877 - 70977877

 食管 癌;腺癌 替换-编码沉默

c.664G > T;p.G222C;3:71046942 - 71046942

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.106C > T;p.R36W;3:71198276 - 71198276

 large_intestine;结肠 癌;腺癌 替换-错义

c.877C > T;p.H293Y;3:71015646 - 71015646

 皮肤;树干 malignant_melanoma 替换-错义

c.632_633insA;p.P212fs * 83;3:71046973 - 71046974

 central_nervous_system;丘脑 神经胶质瘤;astrocytoma_Grade_II 插入——转移

c.342G >;p.Q114Q;3:71053714 - 71053714

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.572T >;p.L191 *;3:71047034 - 71047034

 乳房 癌 替换-胡说

c.1234G >;p.A412T;3:70977942 - 70977942

 胃 癌;腺癌 替换-错义

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