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

1490年

的名字

CTGF

同义的

结缔组织生长因子;CTGF;结缔组织生长因子

定义

CCN家庭成员2 | IBP-8 | IGF-binding蛋白质8 | IGFBP-8 24 | |肥厚性chondrocyte-specific蛋白质胰岛素样生长因子结合蛋白8

位置

6 q23.1

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0.03。

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.544T > C;p.Y182H;6:131950158 - 131950158

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.835T > C;p.Y279H;6:131949479 - 131949479

 胃 癌;腺癌 替换-错义

c.30C > T;p.R10R;6:131951143 - 131951143

 肝 癌 替换-编码沉默

c.30C > T;p.R10R;6:131951143 - 131951143

 肝 癌 替换-编码沉默

c.773G >;p.R258H;6:131949541 - 131949541

 乳房 癌 替换-错义

c.1042A > G;p.M348V;6:131949272 - 131949272

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.880A > C;p.T294P;6:131949434 - 131949434

 肺 癌;腺癌 替换-错义

c.937A > G;p.M313V;6:131949377 - 131949377

 胃 腺癌 替换-错义

c.638G > T;p.C213F;6:131950064 - 131950064

 前列腺癌 癌;腺癌 替换-错义

c.1036G >;p.G346R;6:131949278 - 131949278

 皮肤 malignant_melanoma 替换-错义

c.1036G >;p.G346R;6:131949278 - 131949278

 胃 癌;腺癌 替换-错义

c.168C > T;p.C56C;6:131950891 - 131950891

 large_intestine 癌;腺癌 替换-编码沉默

c.566G >;p.G189D;6:131950136 - 131950136

 large_intestine;盲肠 癌;腺癌 替换-错义

c.886delC;p.H296fs * 18;6:131949428 - 131949428

 large_intestine 癌;腺癌 删除——转移

c.583A > G;p.I195V;6:131950119 - 131950119

 large_intestine;结肠 癌;腺癌 替换-错义

c.553G > C;p.E185Q;6:131950149 - 131950149

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.786C >;p.I262I;6:131949528 - 131949528

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1005C >;p.I335I;6:131949309 - 131949309

 乳房 癌 替换-编码沉默

c.744G >;p.E248E;6:131949958 - 131949958

 肺 癌;腺癌 替换-编码沉默

c.689T > C;p.L230P;6:131950013 - 131950013

 large_intestine 癌;腺癌 替换-错义

c.390G > T;p.A130A;6:131950443 - 131950443

 胃 癌;腺癌 替换-编码沉默

c.390G > T;p.A130A;6:131950443 - 131950443

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-编码沉默

c.921C > T;p.C307C;6:131949393 - 131949393

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.731C > T;p.A244V;6:131949971 - 131949971

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.484G >;p.E162K;6:131950349 - 131950349

 urinary_tract;膀胱 癌 替换-错义

c.484G >;p.E162K;6:131950349 - 131950349

 肾脏 癌;papillary_renal_cell_carcinoma 替换-错义

c.677C > T;p.A226V;6:131950025 - 131950025

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.945_947delGAA;p.K315delK;6:131949367 - 131949369

 骨;胫骨 其他;成软骨细胞瘤 删除——在坐标系

c.1040A > G;p.D347G;6:131949274 - 131949274

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1013C > T;p.S338L;6:131949301 - 131949301

 胃 癌;腺癌 替换-错义

c.849C >;p.F283L;6:131949465 - 131949465

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.821C > T;p.T274I;6:131949493 - 131949493

 卵巢 癌 替换-错义

c.1000G >;p.D334N;6:131949314 - 131949314

 肺 癌;small_cell_carcinoma 替换-错义

c.907G > T;p.V303L;6:131949407 - 131949407

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.907G > T;p.V303L;6:131949407 - 131949407

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.907G > T;p.V303L;6:131949407 - 131949407

 乳房 癌 替换-错义

c.907G > T;p.V303L;6:131949407 - 131949407

 卵巢 癌;serous_carcinoma 替换-错义

c.907G > T;p.V303L;6:131949407 - 131949407

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1012T > C;p.S338P;6:131949302 - 131949302

 urinary_tract;膀胱 癌 替换-错义

c.240A > C;p.L80L;6:131950819 - 131950819

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.240A > C;p.L80L;6:131950819 - 131950819

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.424C > T;p.R142C;6:131950409 - 131950409

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1029G > C;p.K343N;6:131949285 - 131949285

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 large_intestine;盲肠 癌;腺癌 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 large_intestine;直肠 癌;腺癌 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 large_intestine;盲肠 癌;腺癌 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 large_intestine;直肠 癌;腺癌 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.247C > G;p.H83D;6:131950812 - 131950812

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.771C > T;p.I257I;6:131949543 - 131949543

 皮肤 malignant_melanoma 替换-编码沉默

c.537C > T;p.L179L;6:131950296 - 131950296

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-编码沉默

c.771C > T;p.I257I;6:131949543 - 131949543

 皮肤 malignant_melanoma 替换-编码沉默

c.537C > T;p.L179L;6:131950296 - 131950296

 urinary_tract;膀胱 癌 替换-编码沉默

c.931G >;p.E311K;6:131949383 - 131949383

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.691G > C;p.E231Q;6:131950011 - 131950011

 urinary_tract;膀胱 癌 替换-错义

c.691G > C;p.E231Q;6:131950011 - 131950011

 乳房 癌 替换-错义

c.606G > T;p.Q202H;6:131950096 - 131950096

 肺 癌;腺癌 替换-错义

c.691G > T;p.E231 *;6:131950011 - 131950011

 食道;lower_third 癌;腺癌 替换-胡说

c.511G > T;p.D171Y;6:131950322 - 131950322

 肺 癌;small_cell_carcinoma 替换-错义

c.665C >;p.T222N;6:131950037 - 131950037

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.648C > T;p.G216G;6:131950054 - 131950054

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.518C > T;p.T173I;6:131950315 - 131950315

 胰腺 癌 替换-错义

c.794C > T;p.P265L;6:131949520 - 131949520

 肝 癌 替换-错义

c.794C > T;p.P265L;6:131949520 - 131949520

 肝 癌 替换-错义

c.814G > T;p.G272C;6:131949500 - 131949500

 肺 癌;squamous_cell_carcinoma 替换-错义

c.966C >;p.T322T;6:131949348 - 131949348

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

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