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

6423年

的名字

SFRP2

同义的

frizzled-related分泌蛋白2;SFRP2 frizzled-related分泌蛋白2

定义

SARP-1 | sFRP-2 |分泌细胞凋亡相关蛋白1 | apoptosis-related分泌蛋白1

位置

4 q31.3

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0.13。

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.829C > T;p.Q277 *;4:153781510 - 153781510

 large_intestine;结肠 癌;腺癌 替换-胡说

c.471C > T;p.S157S;4:153788365 - 153788365

 large_intestine 癌;腺癌 替换-编码沉默

c.380C > T;p.P127L;4:153788456 - 153788456

 皮肤 malignant_melanoma 替换-错义

c.523T > C;p.C175R;4:153785924 - 153785924

 肺 癌;腺癌 替换-错义

c.704C > T;p.S235L;4:153781635 - 153781635

 皮肤 malignant_melanoma 替换-错义

c.704C > T;p.S235L;4:153781635 - 153781635

 卵巢 癌;serous_carcinoma 替换-错义

c.431G >;p.R144H;4:153788405 - 153788405

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.431G >;p.R144H;4:153788405 - 153788405

 upper_aerodigestive_tract;口 癌 替换-错义

c.474C > T;p.S158S;4:153788362 - 153788362

 胃 癌;腺癌 替换-编码沉默

c.583 + 2 t >;p。?。4:153785862 - 153785862

 肺;right_upper_lobe 癌;腺癌 未知的

c.745G > T;p.E249 *;4:153781594 - 153781594

 胃 癌;腺癌 替换-胡说

c.883T > G;p.C295G;4:153781456 - 153781456

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.237G >;p.W79 *;4:153788599 - 153788599

 upper_aerodigestive_tract;咽 癌;squamous_cell_carcinoma 替换-胡说

c.55C >;p.L19M;4:153788781 - 153788781

 甲状腺 其他;肿瘤 替换-错义

c.676G >;p.G226S;4:153781663 - 153781663

 甲状腺 癌;anaplastic_carcinoma 替换-错义

c.437C > T;p.P146L;4:153788399 - 153788399

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.118T >;p.C40S;4:153788718 - 153788718

 urinary_tract;膀胱 癌 替换-错义

c.188T >;p.L63Q;4:153788648 - 153788648

 large_intestine;直肠 癌;腺癌 替换-错义

c.752A > G;p.N251S;4:153781587 - 153781587

 皮肤 malignant_melanoma 替换-错义

c.499G >;p.E167K;4:153788337 - 153788337

 皮肤 malignant_melanoma 替换-错义

c.524G >;p.C175Y;4:153785923 - 153785923

 前列腺癌 癌 替换-错义

c.625G > C;p.D209H;4:153781714 - 153781714

 乳房 癌;ductal_carcinoma 替换-错义

c.625G > C;p.D209H;4:153781714 - 153781714

 乳房 癌;ductal_carcinoma 替换-错义

c.866G > T;p.S289I;4:153781473 - 153781473

 large_intestine 癌;腺癌 替换-错义

c.306C > T;p.V102V;4:153788530 - 153788530

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.176G >;p.R59Q;4:153788660 - 153788660

 large_intestine;盲肠 癌;腺癌 替换-错义

c.134C > T;p.A45V;4:153788702 - 153788702

 large_intestine;结肠 癌;腺癌 替换-错义

c.134C > T;p.A45V;4:153788702 - 153788702

 甲状腺 其他;肿瘤 替换-错义

c.835G >;p.G279R;4:153781504 - 153781504

 皮肤 malignant_melanoma 替换-错义

c.338C > T;p.P113L;4:153788498 - 153788498

 large_intestine;结肠 癌;腺癌 替换-错义

c.348G >;p.S116S;4:153788488 - 153788488

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.199G >;p.E67K;4:153788637 - 153788637

 皮肤 malignant_melanoma 替换-错义

c.863G > T;p.R288L;4:153781476 - 153781476

 前列腺癌 癌;腺癌 替换-错义

c.863G > T;p.R288L;4:153781476 - 153781476

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.70G >;p.G24R;4:153788766 - 153788766

 胰腺 癌 替换-错义

c.762C > T;p.N254N;4:153781577 - 153781577

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.99C >;p.F33L;4:153788737 - 153788737

 large_intestine;直肠 癌;腺癌 替换-错义

c.754G >;p.D252N;4:153781585 - 153781585

 胰腺 癌;ductal_carcinoma 替换-错义

c.75C > T;p.L25L;4:153788761 - 153788761

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.376G >;p.A126T;4:153788460 - 153788460

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.297C > T;p.F99F;4:153788539 - 153788539

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-编码沉默

c.297C > T;p.F99F;4:153788539 - 153788539

 urinary_tract;膀胱 癌 替换-编码沉默

c.816G > C;p.S272S;4:153781523 - 153781523

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.775G >;p.V259I;4:153781564 - 153781564

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

c.67C > T;p.R23C;4:153788769 - 153788769

 食管 癌;腺癌 替换-错义

c.690G >;p.R230R;4:153781649 - 153781649

 皮肤 malignant_melanoma 替换-编码沉默

c.816G >;p.S272S;4:153781523 - 153781523

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-编码沉默

c.816G >;p.S272S;4:153781523 - 153781523

 large_intestine;直肠 NS 替换-编码沉默

c.816G >;p.S272S;4:153781523 - 153781523

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-编码沉默

c.590A > C;p.K197T;4:153781749 - 153781749

 胃 癌;腺癌 替换-错义

c.661A > G;p.I221V;4:153781678 - 153781678

 皮肤 malignant_melanoma 替换-错义

c.776T > C;p.V259A;4:153781563 - 153781563

 large_intestine;结肠 癌;腺癌 替换-错义

c.606G > C;p.E202D;4:153781733 - 153781733

 乳房 癌;ductal_carcinoma 替换-错义

c.776T > C;p.V259A;4:153781563 - 153781563

 large_intestine;结肠 癌;腺癌 替换-错义

c.776T > C;p.V259A;4:153781563 - 153781563

 large_intestine;结肠 癌;腺癌 替换-错义

c.132T > G;p.P44P;4:153788704 - 153788704

 甲状腺 其他;肿瘤 替换-编码沉默

c.133G > T;p.A45S;4:153788703 - 153788703

 肺 癌;腺癌 替换-错义

c.675C > T;p.N225N;4:153781664 - 153781664

 large_intestine 癌;腺癌 替换-编码沉默

c.763G >;p.A255T;4:153781576 - 153781576

 large_intestine;结肠 癌;腺癌 替换-错义

c.571A > G;p.K191E;4:153785876 - 153785876

 large_intestine;结肠 癌;腺癌 替换-错义

c.763G >;p.A255T;4:153781576 - 153781576

 食道;lower_third 癌;腺癌 替换-错义

c.563C > T;p.T188M;4:153785884 - 153785884

 胰腺 癌 替换-错义

c.763G >;p.A255T;4:153781576 - 153781576

 large_intestine;结肠 癌;腺癌 替换-错义

c.429C > T;p.D143D;4:153788407 - 153788407

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.66G >;p.A22A;4:153788770 - 153788770

 甲状腺 其他;肿瘤 替换-编码沉默

c.21G > C;p.S7S;4:153788815 - 153788815

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.753C > T;p.N251N;4:153781586 - 153781586

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.241C > T;p.P81S;4:153788595 - 153788595

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.486G > C;p.L162L;4:153788350 - 153788350

 甲状腺 其他;肿瘤 替换-编码沉默

c.147delG;p.C50fs * 20;4:153788689 - 153788689

 子宫内膜 癌;endometrioid_carcinoma 删除——转移

c.647C > T;p.T216I;4:153781692 - 153781692

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.588G >;p.L196L;4:153781751 - 153781751

 urinary_tract;膀胱 癌 替换-编码沉默

c.853C > T;p.R285C;4:153781486 - 153781486

 前列腺癌 癌 替换-错义

c.463delC;p.L155fs * 31;4:153788373 - 153788373

 large_intestine;结肠 癌;腺癌 删除——转移

c.773_784del12;p.L258_G261delLVMG;4:153781555 - 153781566

 皮肤;头皮 malignant_melanoma 删除——在坐标系

c.389C > T;p.S130F;4:153788447 - 153788447

 皮肤 malignant_melanoma 替换-错义

c.20_21insGCT;p.L11_F12insL;4:153788815 - 153788816

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;hairy_cell_leukaemia 插入——在坐标系

c.175C > T;p.R59W;4:153788661 - 153788661

 胃 癌;腺癌 替换-错义

c.738C > T;p.T246T;4:153781601 - 153781601

 皮肤 malignant_melanoma 替换-编码沉默

c.705G >;p.S235S;4:153781634 - 153781634

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.622C > T;p.R208 *;4:153781717 - 153781717

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.540T > G;p.D180E;4:153785907 - 153785907

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.540T > G;p.D180E;4:153785907 - 153785907

 upper_aerodigestive_tract;口 癌 替换-错义

c.683C > T;p.S228F;4:153781656 - 153781656

 皮肤 malignant_melanoma 替换-错义

c.866G >;p.S289N;4:153781473 - 153781473

 large_intestine;结肠 癌;腺癌 替换-错义

c.727T >;p.L243M;4:153781612 - 153781612

 皮肤 malignant_melanoma 替换-错义

c.745G >;p.E249K;4:153781594 - 153781594

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.248T > C;p.V83A;4:153788588 - 153788588

 前列腺癌 癌;腺癌 替换-错义

c.32_33insGCT;p.L11_F12insL;4:153788803 - 153788804

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 插入——在坐标系

c.815C >;p.S272 *;4:153781524 - 153781524

 large_intestine;结肠 癌;腺癌 替换-胡说

c.325G >;p.E109K;4:153788511 - 153788511

 胃 癌;腺癌 替换-错义

c.325G >;p.E109K;4:153788511 - 153788511

 肺 癌;腺癌 替换-错义

c.78C > T;p.F26F;4:153788758 - 153788758

 甲状腺 其他;肿瘤 替换-编码沉默

c.211G > C;p.E71Q;4:153788625 - 153788625

 食道;middle_third 癌;squamous_cell_carcinoma 替换-错义

c.396C > T;p.F132F;4:153788440 - 153788440

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.823C > T;p.R275W;4:153781516 - 153781516

 胃 癌;腺癌 替换-错义

c.814T >;p.S272T;4:153781525 - 153781525

 large_intestine;结肠 癌;腺癌 替换-错义

c.298G >;p.A100T;4:153788538 - 153788538

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.150C > T;p.C50C;4:153788686 - 153788686

 胃 癌;腺癌 替换-编码沉默

c.871C > T;p.R291C;4:153781468 - 153781468

 large_intestine;结肠 癌;腺癌 替换-错义

c.829C > G;p.Q277E;4:153781510 - 153781510

 large_intestine;直肠 癌;腺癌 替换-错义

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