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

4045年

的名字

LSAMP

同义的

边缘系统膜蛋白;LSAMP;边缘系统膜蛋白质

定义

IgLON家庭成员3

位置

3 q13.2-q21

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0.02。

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.382G >;p.V128I;3:116086330 - 116086330

 large_intestine;结肠 癌;腺癌 替换-错义

c.111C > T;p.G37G;3:116444921 - 116444921

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.502C >;p.L168I;3:116019527 - 116019527

 皮肤 malignant_melanoma 替换-错义

c.856G >;p.G286S;3:115841908 - 115841908

 large_intestine;结肠 癌;腺癌 替换-错义

c.906C >;p.S302R;3:115841858 - 115841858

 肺;right_lower_lobe 癌;腺癌 替换-错义

c.18G > T;p.Q6H;3:116445014 - 116445014

 肺 癌;squamous_cell_carcinoma 替换-错义

c.44T > C;p.V15A;3:116444988 - 116444988

 large_intestine;结肠 癌;腺癌 替换-错义

c.250G >;p.V84I;3:116086462 - 116086462

 肺 癌;腺癌 替换-错义

c.831G >;p.V277V;3:115841933 - 115841933

 肺 癌;腺癌 替换-编码沉默

c.615G >;p.S205S;3:115852517 - 115852517

 胃 癌;腺癌 替换-编码沉默

c.288C > T;p.L96L;3:116086424 - 116086424

 肺 癌;腺癌 替换-编码沉默

c.125C > T;p.T42I;3:116444907 - 116444907

 肺 癌;腺癌 替换-错义

c.320G > T;p.G107V;3:116086392 - 116086392

 肺 癌;腺癌 替换-错义

c.205G >;p.G69S;3:116086507 - 116086507

 皮肤;的脸 癌;squamous_cell_carcinoma 替换-错义

c.264A > G;p.K88K;3:116086448 - 116086448

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.369A > G;p.Q123Q;3:116086343 - 116086343

 胃 癌;腺癌 替换-编码沉默

c.290G >;p.R97Q;3:116086422 - 116086422

 large_intestine;结肠 癌;腺癌 替换-错义

c.290G >;p.R97Q;3:116086422 - 116086422

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.290G >;p.R97Q;3:116086422 - 116086422

 large_intestine;结肠 癌;腺癌 替换-错义

c.535G >;p.E179K;3:115852597 - 115852597

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.290G >;p.R97Q;3:116086422 - 116086422

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.633C >;p.V211V;3:115852499 - 115852499

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma 替换-编码沉默

c.633C >;p.V211V;3:115852499 - 115852499

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma;medullomyoblastoma 替换-编码沉默

c.169G > T;p.D57Y;3:116086543 - 116086543

 urinary_tract;膀胱 癌 替换-错义

c.657C > T;p.P219P;3:115842571 - 115842571

 皮肤 malignant_melanoma 替换-编码沉默

c.875C > T;p.A292V;3:115841889 - 115841889

 large_intestine;结肠 癌;腺癌 替换-错义

c.352G > T;p.E118 *;3:116086360 - 116086360

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-胡说

c.822C >;p.S274S;3:115841942 - 115841942

 肺 癌;腺癌 替换-编码沉默

c.618G >;p.A206A;3:115852514 - 115852514

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.912C >;p.V304V;3:115841852 - 115841852

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.138G > T;p.G46G;3:116444894 - 116444894

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.954C > T;p.I318I;3:115810380 - 115810380

 乳房 癌 替换-编码沉默

c.770 + 6 t > C;p。?。3:115842452 - 115842452

 肝 癌 未知的

c.770 + 6 t > C;p。?。3:115842452 - 115842452

 肝 癌 未知的

c.238C > T;p.L80L;3:116086474 - 116086474

 皮肤 malignant_melanoma 替换-编码沉默

c.732G >;p.V244V;3:115842496 - 115842496

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.438C >;p.G146G;3:116019591 - 116019591

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.93C >;p.S31R;3:116444939 - 116444939

 肺 癌;腺癌 替换-错义

c.272C >;p.S91Y;3:116086440 - 116086440

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.719A > G;p.E240G;3:115842509 - 115842509

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.793G > C;p.E265Q;3:115841971 - 115841971

 urinary_tract;膀胱 癌 替换-错义

c.266G > T;p.R89L;3:116086446 - 116086446

 large_intestine;结肠 癌;腺癌 替换-错义

c.709C > T;p.L237F;3:115842519 - 115842519

 皮肤;树干 malignant_melanoma 替换-错义

c.619G >;p.D207N;3:115852513 - 115852513

 肺 癌;squamous_cell_carcinoma 替换-错义

c.908T > C;p.L303P;3:115841856 - 115841856

 large_intestine;盲肠 癌;腺癌 替换-错义

c.284G >;p.S95N;3:116086428 - 116086428

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.630A > G;p.Q210Q;3:115852502 - 115852502

 胃 癌;腺癌 替换-编码沉默

c.617C > T;p.A206V;3:115852515 - 115852515

 甲状腺 癌 替换-错义

c.514 + 2 t >;p。?。3:116019513 - 116019513

 肺;right_lower_lobe 癌;腺癌 未知的

c.894C > T;p.V298V;3:115841870 - 115841870

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-编码沉默

c.894C > T;p.V298V;3:115841870 - 115841870

 子宫颈 癌;squamous_cell_carcinoma 替换-编码沉默

c.366_367CC TT >;p.Q123 *;3:116086345 - 116086346

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.962C > T;p.A321V;3:115810372 - 115810372

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.272C > T;p.S91F;3:116086440 - 116086440

 皮肤 malignant_melanoma 替换-错义

c.375C >;p.Y125 *;3:116086337 - 116086337

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.771G >;p.R257R;3:115841993 - 115841993

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.962C >;p.A321D;3:115810372 - 115810372

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.428T > G;p.V143G;3:116019601 - 116019601

 皮肤 malignant_melanoma 替换-错义

c.520G >;p.E174K;3:115852612 - 115852612

 皮肤;头皮 癌;squamous_cell_carcinoma 替换-错义

c.183G > T;p.K61N;3:116086529 - 116086529

 肺 癌;腺癌 替换-错义

c.637G >;p.V213I;3:115852495 - 115852495

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.382G > T;p.V128L;3:116086330 - 116086330

 子宫内膜 癌;serous_carcinoma 替换-错义

c.888G > T;p.L296L;3:115841876 - 115841876

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.947G >;p.G316E;3:115810387 - 115810387

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.25C > T;p.R9W;3:116445007 - 116445007

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.929C > T;p.S310L;3:115810405 - 115810405

 甲状腺 其他;肿瘤 替换-错义

c.929C > T;p.S310L;3:115810405 - 115810405

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.25C > T;p.R9W;3:116445007 - 116445007

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.606G >;p.E202E;3:115852526 - 115852526

 肺 癌;腺癌 替换-编码沉默

c.354G > T;p.E118D;3:116086358 - 116086358

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.725C > T;p.S242L;3:115842503 - 115842503

 large_intestine;直肠 癌;腺癌 替换-错义

c.502C > T;p.L168F;3:116019527 - 116019527

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.827C > T;p.T276M;3:115841937 - 115841937

 large_intestine;结肠 癌;腺癌 替换-错义

c.827C > T;p.T276M;3:115841937 - 115841937

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.538_540delGAA;p.E180delE;3:115852592 - 115852594

 large_intestine;结肠 癌;腺癌 删除——在坐标系

c.354G >;p.E118E;3:116086358 - 116086358

 肝 癌 替换-编码沉默

c.354G >;p.E118E;3:116086358 - 116086358

 肝 癌 替换-编码沉默

c.252T > G;p.V84V;3:116086460 - 116086460

 肺 癌;腺癌 替换-编码沉默

c.544C > T;p.L182L;3:115852588 - 115852588

 large_intestine 癌;腺癌 替换-编码沉默

c.707C > T;p.S236L;3:115842521 - 115842521

 胰腺 癌 替换-错义

c.344C >;p.T115K;3:116086368 - 116086368

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.526G >;p.E176K;3:115852606 - 115852606

 皮肤 malignant_melanoma 替换-错义

c.512C >;p.T171N;3:116019517 - 116019517

 肺 癌;squamous_cell_carcinoma 替换-错义

c.126C > T;p.T42T;3:116444906 - 116444906

 骨;骨盆 软骨肉瘤 替换-编码沉默

c.381C > T;p.I127I;3:116086331 - 116086331

 皮肤 malignant_melanoma 替换-编码沉默

c.411C >;p.I137I;3:116019618 - 116019618

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.333C > T;p.C111C;3:116086379 - 116086379

 large_intestine 癌;腺癌 替换-编码沉默

c.333C > T;p.C111C;3:116086379 - 116086379

 large_intestine 癌;腺癌 替换-编码沉默

c.726G >;p.S242S;3:115842502 - 115842502

 胃 癌;腺癌 替换-编码沉默

c.706T >;p.S236T;3:115842522 - 115842522

 卵巢 癌;serous_carcinoma 替换-错义

c.837C > T;p.N279N;3:115841927 - 115841927

 前列腺癌 癌 替换-编码沉默

c.661A > G;p.I221V;3:115842567 - 115842567

 甲状腺 癌 替换-错义

c.445G >;p.V149M;3:116019584 - 116019584

 胃 癌;腺癌 替换-错义

c.445G >;p.V149M;3:116019584 - 116019584

 乳房 癌 替换-错义

c.418G >;p.D140N;3:116019611 - 116019611

 食管 癌;腺癌 替换-错义

c.418G >;p.D140N;3:116019611 - 116019611

 食管 癌;腺癌 替换-错义

c.793G >;p.E265K;3:115841971 - 115841971

 皮肤 malignant_melanoma 替换-错义

c.844G >;p.E282K;3:115841920 - 115841920

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.677G > T;p.S226I;3:115842551 - 115842551

 胰腺 癌 替换-错义

c.677G > T;p.S226I;3:115842551 - 115842551

 胰腺 癌 替换-错义

c.677G > T;p.S226I;3:115842551 - 115842551

 胰腺 癌;ductal_carcinoma 替换-错义

c.972G > C;p.L324L;3:115810362 - 115810362

 肺 癌;non_small_cell_carcinoma 替换-编码沉默

c.240G > T;p.L80L;3:116086472 - 116086472

 肺 癌;腺癌 替换-编码沉默

c.248G >;p.R83Q;3:116086464 - 116086464

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;mantle_cell_lymphoma 替换-错义

c.818C >;p.S273Y;3:115841946 - 115841946

 large_intestine;盲肠 癌;腺癌 替换-错义

c.801G >;p.K267K;3:115841963 - 115841963

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.160G >;p.V54I;3:116086552 - 116086552

 large_intestine;结肠 癌;腺癌 替换-错义

c.553C > T;p.L185F;3:115852579 - 115852579

 large_intestine;盲肠 癌;腺癌 替换-错义

c.77G >;p.G26E;3:116444955 - 116444955

 皮肤;树干 malignant_melanoma 替换-错义

c.515-1G >;p。?。3:115852618 - 115852618

 皮肤;head_neck 癌;squamous_cell_carcinoma 未知的

c.279A > C;p.E93D;3:116086433 - 116086433

 large_intestine;结肠 癌;腺癌 替换-错义

c.692C > G;p.T231R;3:115842536 - 115842536

 肝 癌 替换-错义

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