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

130399年

的名字

ACVR1C

同义的

激活素受体类型IC; ACVR1C;激活素受体类型IC

定义

ACTR-IC | ALK-7 |激活素受体类型IC |激活素受体type-1C |激活素受体激酶7

位置

2 q24.1

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0.11。

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.955A > G;p.I319V;2:157542851 - 157542851

 肺 癌;腺癌 替换-错义

c.1222G > C;p.G408R;2:157541093 - 157541093

 urinary_tract;膀胱 癌 替换-错义

c.1097A > C;p.K366T;2:157542709 - 157542709

 乳房 癌 替换-错义

c.1081C > T;p.P361S;2:157542725 - 157542725

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.91C > T;p.L31F;2:157587400 - 157587400

 皮肤 malignant_melanoma 替换-错义

c.649G >;p.E217K;2:157550288 - 157550288

 皮肤 malignant_melanoma 替换-错义

c.451G >;p.V151M;2:157556186 - 157556186

 肺;middle_lobe 癌;腺癌 替换-错义

c.682G >;p.D228N;2:157550255 - 157550255

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.441G > T;p.K147N;2:157556196 - 157556196

 子宫内膜 癌;serous_carcinoma 替换-错义

c.524C > T;p.T175I;2:157556113 - 157556113

 皮肤;乳头 malignant_melanoma 替换-错义

c.524C > T;p.T175I;2:157556113 - 157556113

 皮肤;粘膜 malignant_melanoma 替换-错义

c.616T > C;p.F206L;2:157550321 - 157550321

 large_intestine;结肠 癌;腺癌 替换-错义

c.902G > T;p.S301I;2:157544486 - 157544486

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1384C >;p.R462S;2:157534016 - 157534016

 肺 癌;squamous_cell_carcinoma 替换-错义

c.956T > C;p.I319T;2:157542850 - 157542850

 large_intestine;结肠 癌;腺癌 替换-错义

c.956T > C;p.I319T;2:157542850 - 157542850

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1444A > G;p.I482V;2:157533956 - 157533956

 large_intestine;结肠 癌;腺癌 替换-错义

c.1281G >;p.S427S;2:157538648 - 157538648

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.325C > T;p.L109F;2:157556312 - 157556312

 皮肤 malignant_melanoma 替换-错义

c.1178C >;p.S393Y;2:157541137 - 157541137

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.935G >;p.G312D;2:157544453 - 157544453

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.935G >;p.G312D;2:157544453 - 157544453

 皮肤 malignant_melanoma 替换-错义

c.1280C > T;p.S427L;2:157538649 - 157538649

 皮肤 malignant_melanoma 替换-错义

c.643T > G;p.C215G;2:157550294 - 157550294

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_leukaemia 替换-错义

c.893C > T;p.S298L;2:157544495 - 157544495

 食管 癌;腺癌 替换-错义

c.1402A > G;p.N468D;2:157533998 - 157533998

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1093A > G;p.T365A;2:157542713 - 157542713

 皮肤 malignant_melanoma 替换-错义

c.1407A > T;p.G469G;2:157533993 - 157533993

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.1077G > T;p.Q359H;2:157542729 - 157542729

 胰腺 癌 替换-错义

c.214C > G;p.Q72E;2:157587277 - 157587277

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;plasma_cell_myeloma 替换-错义

c.689G > T;p.R230I;2:157550248 - 157550248

 乳房 癌 替换-错义

c.149T > G;p.V50G;2:157587342 - 157587342

 前列腺癌 癌 替换-错义

c.765T >;p.A255A;2:157550172 - 157550172

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.765T >;p.A255A;2:157550172 - 157550172

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.701G > C;p.R234P;2:157550236 - 157550236

 肺 癌;squamous_cell_carcinoma 替换-错义

c.306A > C;p.A102A;2:157556331 - 157556331

 乳房 癌 替换-编码沉默

c.525C > T;p.T175T;2:157556112 - 157556112

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.824A > G;p.Q275R;2:157544564 - 157544564

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.525C > T;p.T175T;2:157556112 - 157556112

 皮肤;乳头 malignant_melanoma 替换-编码沉默

c.525C > T;p.T175T;2:157556112 - 157556112

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-编码沉默

c.387G >;p.A129A;2:157556250 - 157556250

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.720G >;p.Q240Q;2:157550217 - 157550217

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.967G > T;p.D323Y;2:157542839 - 157542839

 large_intestine;直肠 癌;腺癌 替换-错义

c.831C > T;p.S277S;2:157544557 - 157544557

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.222C > T;p.F74F;2:157587269 - 157587269

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.275G >;p.C92Y;2:157587216 - 157587216

 肺 癌;squamous_cell_carcinoma 替换-错义

c.914A > C;p.H305P;2:157544474 - 157544474

 large_intestine;结肠 癌;腺癌 替换-错义

c.919C > T;p.H307Y;2:157544469 - 157544469

 皮肤 malignant_melanoma 替换-错义

c.1034C > T;p.A345V;2:157542772 - 157542772

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.763G >;p.A255T;2:157550174 - 157550174

 large_intestine;盲肠 癌;腺癌 替换-错义

c.763G >;p.A255T;2:157550174 - 157550174

 large_intestine;直肠 癌;腺癌 替换-错义

c.952_953GC TT >;p.A318F;2:157542853 - 157542854

 卵巢 癌;serous_carcinoma 替换-错义

c.825G > T;p.Q275H;2:157544563 - 157544563

 前列腺癌 癌;腺癌 替换-错义

c.304 + 2 t > C;p。?。2:157587185 - 157587185

 central_nervous_system;大脑 神经胶质瘤 未知的

c.1066G >;p.D356N;2:157542740 - 157542740

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1198G >;p.E400K;2:157541117 - 157541117

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.612T > G;p.G204G;2:157550325 - 157550325

 乳房 癌 替换-编码沉默

c.138T > C;p.C46C;2:157587353 - 157587353

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.305-2A > G;p。?。2:157556334 - 157556334

 胃 癌;腺癌 未知的

c.451G > T;p.V151L;2:157556186 - 157556186

 肺 癌;small_cell_carcinoma 替换-错义

c.487G > T;p.A163S;2:157556150 - 157556150

 肺 癌;腺癌 替换-错义

c.1379T >;p.I460K;2:157534021 - 157534021

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

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤 malignant_melanoma 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 large_intestine;直肠 癌;腺癌 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤;头皮 malignant_melanoma 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤 malignant_melanoma 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤 malignant_melanoma 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤 malignant_melanoma 替换-胡说

c.1321C > T;p.R441 *;2:157538608 - 157538608

 皮肤;粘膜 malignant_melanoma 替换-胡说

c.1082C > T;p.P361L;2:157542724 - 157542724

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.482T > C;p.V161A;2:157556155 - 157556155

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.1449T > C;p.S483S;2:157533951 - 157533951

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

c.734G >;p.R245Q;2:157550203 - 157550203

 large_intestine;结肠 癌;腺癌 替换-错义

c.625G >;p.V209M;2:157550312 - 157550312

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.964C > T;p.R322 *;2:157542842 - 157542842

 large_intestine 癌;腺癌 替换-胡说

c.192C > T;p.V64V;2:157587299 - 157587299

 皮肤 malignant_melanoma 替换-编码沉默

c.1169A > G;p.D390G;2:157541146 - 157541146

 肺 癌;small_cell_carcinoma 替换-错义

c.964C > T;p.R322 *;2:157542842 - 157542842

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 替换-胡说

c.718C >;p.Q240K;2:157550219 - 157550219

 肺 癌;squamous_cell_carcinoma 替换-错义

c.956T >;p.I319N;2:157542850 - 157542850

 肺 癌;腺癌 替换-错义

c.996A > G;p.K332K;2:157542810 - 157542810

 胃 癌;腺癌 替换-编码沉默

c.114C > T;p.F38F;2:157587377 - 157587377

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.109A > T;p.N37Y;2:157587382 - 157587382

 脑膜 脑膜瘤;haemangiopericytic 替换-错义

c.1415G >;p.R472H;2:157533985 - 157533985

 胃 癌;腺癌 替换-错义

c.1415G >;p.R472H;2:157533985 - 157533985

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.542C > T;p.S181F;2:157556095 - 157556095

 皮肤 malignant_melanoma 替换-错义

c.981G >;p.K327K;2:157542825 - 157542825

 皮肤 malignant_melanoma 替换-编码沉默

c.1285G > C;p.E429Q;2:157538644 - 157538644

 upper_aerodigestive_tract;口 癌 替换-错义

c.1285G > C;p.E429Q;2:157538644 - 157538644

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1049C > G;p.S350 *;2:157542757 - 157542757

 卵巢 癌;serous_carcinoma 替换-胡说

c.695G > T;p.W232L;2:157550242 - 157550242

 肺;right_lower_lobe 癌;腺癌 替换-错义

c.158C >;p.T53N;2:157587333 - 157587333

 肺 癌;small_cell_carcinoma 替换-错义

c.1385G >;p.R462H;2:157534015 - 157534015

 卵巢 癌;serous_carcinoma 替换-错义

c.1154C >;p.S385Y;2:157541161 - 157541161

 乳房 癌;basal_ _carcinoma(三阴性) 替换-错义

c.1071A > T;p.I357I;2:157542735 - 157542735

 肺;right_lower_lobe 癌;腺癌 替换-编码沉默

c.499C > T;p.L167L;2:157556138 - 157556138

 乳房 癌 替换-编码沉默

c.1404C > T;p.N468N;2:157533996 - 157533996

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1404C > T;p.N468N;2:157533996 - 157533996

 卵巢 其他;肿瘤 替换-编码沉默

c.1276C > T;p.P426S;2:157538653 - 157538653

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1414C > T;p.R472C;2:157533986 - 157533986

 large_intestine;结肠 癌;腺癌 替换-错义

c.799T > C;p.W267R;2:157544589 - 157544589

 肺 癌;squamous_cell_carcinoma 替换-错义

c.799T > C;p.W267R;2:157544589 - 157544589

 肺 癌;squamous_cell_carcinoma 替换-错义

c.610G > T;p.G204C;2:157550327 - 157550327

 前列腺癌 癌;腺癌 替换-错义

c.584T > C;p.I195T;2:157550353 - 157550353

 胃 癌;腺癌 替换-错义

c.387G > C;p.A129A;2:157556250 - 157556250

 子宫颈 癌;squamous_cell_carcinoma 替换-编码沉默

c.1267C > T;p.P423S;2:157538662 - 157538662

 胃 癌;腺癌 替换-错义

c.1146C >;p.I382I;2:157541169 - 157541169

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.233C > T;p.S78F;2:157587258 - 157587258

 皮肤;腿 malignant_melanoma 替换-错义

c.765T > C;p.A255A;2:157550172 - 157550172

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.233C > T;p.S78F;2:157587258 - 157587258

 皮肤;腿 malignant_melanoma 替换-错义

c.826G > T;p.G276C;2:157544562 - 157544562

 肺 癌;squamous_cell_carcinoma 替换-错义

c.672C >;p.F224L;2:157550265 - 157550265

 large_intestine;盲肠 癌;腺癌 替换-错义

c.469G > T;p.E157 *;2:157556168 - 157556168

 肝 癌;hepatocellular_carcinoma 替换-胡说

c.549A > G;p.L183L;2:157550388 - 157550388

 urinary_tract;膀胱 癌 替换-编码沉默

c.1049C > T;p.S350L;2:157542757 - 157542757

 large_intestine;直肠 癌;腺癌 替换-错义

c.426C > T;p.S142S;2:157556211 - 157556211

 皮肤 malignant_melanoma 替换-编码沉默

c.402G > T;p.W134C;2:157556235 - 157556235

 肺 癌;small_cell_carcinoma 替换-错义

c.725T > C;p.V242A;2:157550212 - 157550212

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.386C > T;p.A129V;2:157556251 - 157556251

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

c.185C > T;p.S62F;2:157587306 - 157587306

 皮肤 malignant_melanoma 替换-错义

c.10G >;p.A4T;2:157628635 - 157628635

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

c.1416C > T;p.R472R;2:157533984 - 157533984

 胃 癌;腺癌 替换-编码沉默

c.879C > T;p.I293I;2:157544509 - 157544509

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

c.291G > T;p.L97L;2:157587200 - 157587200

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.678C > T;p.S226S;2:157550259 - 157550259

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.544 + 8 G >;p。?。2:157556085 - 157556085

 肝 癌 未知的

c.763G > T;p.A255S;2:157550174 - 157550174

 肺 癌;腺癌 替换-错义

c.199C > T;p.P67S;2:157587292 - 157587292

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1405G >;p.G469R;2:157533995 - 157533995

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.325_326CT >助教;p.L109Y;2:157556311 - 157556312

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.793C > G;p.Q265E;2:157544595 - 157544595

 NS NS 替换-错义

c.582G > T;p.T194T;2:157550355 - 157550355

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.756C > T;p.F252F;2:157550181 - 157550181

 胃 癌;腺癌 替换-编码沉默

c.756C > T;p.F252F;2:157550181 - 157550181

 皮肤 malignant_melanoma 替换-编码沉默

c.1322G >;p.R441Q;2:157538607 - 157538607

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.700C > T;p.R234C;2:157550237 - 157550237

 large_intestine;结肠 癌;腺癌 替换-错义

c.700C > T;p.R234C;2:157550237 - 157550237

 皮肤 malignant_melanoma 替换-错义

c.158_169del12;p.T53_E57 > K;2:157587322 - 157587333

 皮肤;head_neck 癌;squamous_cell_carcinoma 复杂——删除inframe

c.1429C > T;p.R477C;2:157533971 - 157533971

 皮肤 malignant_melanoma 替换-错义

c.1255_1257delTAT;p.Y419delY;2:157538672 - 157538674

 肾脏 癌;clear_cell_renal_cell_carcinoma 删除——在坐标系

c.268G >;p.D90N;2:157587223 - 157587223

 肺 癌;non_small_cell_carcinoma 替换-错义

c.268G >;p.D90N;2:157587223 - 157587223

 肺 癌;腺癌 替换-错义

c.863C >;p.T288N;2:157544525 - 157544525

 large_intestine;结肠 癌;腺癌 替换-错义

c.837T > G;p.Y279 *;2:157544551 - 157544551

 肺 癌;腺癌 替换-胡说

c.800G >;p.W267 *;2:157544588 - 157544588

 large_intestine;结肠 癌;腺癌 替换-胡说

c.895A > G;p.I299V;2:157544493 - 157544493

 肺 癌;腺癌 替换-错义

”)
Baidu