| 一般信息|文学|表达式|监管|变体|交互 |
基本信息 |
|
|---|---|
基因身份证 |
3659年 |
的名字 |
IRF1 |
同义的 |
干扰素调节因子1;IRF1;干扰素调节因子1 |
定义 |
干扰素调节因子1同种型+ 19 |干扰素调节因子1同种型d78 |干扰素调节因子1同种型delta4 | delta7干扰素调节因子1对碘氧基苯甲醚 |
位置 |
5 q31.1 |
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 |
 |
非同义(上)和(底部)同义突变比例对各种癌症 |
前 |
 |
 |
损失函数的突变与错义突变 |
前 |
 |
| 丧失突变在错义突变的比例是0.28。 |
各种癌症的拷贝数变化 |
前 |
 |
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) |
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突变(cd;AA;科) |
网站 |
组织学 |
突变类型 |
|---|---|---|---|
c.811_812insG;p.D271fs * 3;5:132484403 - 132484404 |
肝 | 癌 | 插入——转移 |
c.60A > C;p.Q20H;5:132489419 - 132489419 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.158G >;p.C53Y;5:132487955 - 132487955 |
乳房 | 癌 | 替换-错义 |
c.921C > T;p.D307D;5:132484008 - 132484008 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.357G > C;p.Q119H;5:132486961 - 132486961 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.357G > C;p.Q119H;5:132486961 - 132486961 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.197A > G;p.K66R;5:132487121 - 132487121 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.311C >;p.S104 *;5:132487007 - 132487007 |
胃 | 癌;腺癌 | 替换-胡说 |
c.932C > T;p.T311I;5:132483997 - 132483997 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.765delG;p.Y256fs * 34;5:132484450 - 132484450 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.244C > T;p.R82C;5:132487074 - 132487074 |
胃 | 癌;腺癌 | 替换-错义 |
c.3G >;p.M1I;5:132489476 - 132489476 |
食管 | 癌;腺癌 | 替换-错义 |
c.554C > T;p.P185L;5:132486364 - 132486364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.53C >;p.S18Y;5:132489426 - 132489426 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 替换-错义 |
c.498_499insA;p.P167fs * 42;5:132486602 - 132486603 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.665A > C;p.E222A;5:132486253 - 132486253 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.129G >;p.K43K;5:132487984 - 132487984 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.326A > G;p.Y109C;5:132486992 - 132486992 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.618_630del13;p.S207fs * 28;5:132486288 - 132486300 |
食管 | 癌;腺癌 | 删除——转移 |
c.593C > T;p.P198L;5:132486325 - 132486325 |
甲状腺 | 癌 | 替换-错义 |
c.235G >;p.A79T;5:132487083 - 132487083 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.151G >;p.D51N;5:132487962 - 132487962 |
皮肤 | malignant_melanoma | 替换-错义 |
c.800C > T;p.S267F;5:132484415 - 132484415 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.674C > T;p.T225I;5:132485710 - 132485710 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.800C > T;p.S267F;5:132484415 - 132484415 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.800C > T;p.S267F;5:132484415 - 132484415 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-错义 |
c.193_194insA;p.Y65fs * 1;5:132487124 - 132487125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.195C >;p.Y65 *;5:132487123 - 132487123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.78G > T;p.W26C;5:132489401 - 132489401 |
甲状腺 | 其他;肿瘤 | 替换-错义 |
c.256A > C;p.N86H;5:132487062 - 132487062 |
前列腺癌 | 癌 | 替换-错义 |
c.568A > T;p.S190C;5:132486350 - 132486350 |
胃 | 癌;腺癌 | 替换-错义 |
c.757G > C;p.G253R;5:132484458 - 132484458 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.750C > T;p.N250N;5:132484465 - 132484465 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.43C > T;p.Q15 *;5:132489436 - 132489436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 替换-胡说 |
c.454C > T;p.L152F;5:132486647 - 132486647 |
乳房 | 癌 | 替换-错义 |
c.965C >;p.P322H;5:132483964 - 132483964 |
胃 | 癌;腺癌 | 替换-错义 |
c.667G > C;p.A223P;5:132486251 - 132486251 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.733G >;p.E245K;5:132484482 - 132484482 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.239A > G;p.N80S;5:132487079 - 132487079 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.385C > T;p.R129 *;5:132486824 - 132486824 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.220C > G;p.P74A;5:132487098 - 132487098 |
乳房 | 癌 | 替换-错义 |
c.217G > C;p.D73H;5:132487101 - 132487101 |
肺 | 癌;腺癌 | 替换-错义 |
c.187G >;p.G63S;5:132487926 - 132487926 |
胰腺 | 癌 | 替换-错义 |
c.491A > G;p.Y164C;5:132486610 - 132486610 |
骨;骨盆 | 软骨肉瘤 | 替换-错义 |
c.908_909CC TT >;p.A303V;5:132484020 - 132484021 |
皮肤;的脸 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.718-2A > G;p。?。5:132484499 - 132484499 |
large_intestine;结肠 | 癌;腺癌 | 未知的 |
c.328C >;p.R110R;5:132486990 - 132486990 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.687G >;p.E229E;5:132485697 - 132485697 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.179T > G;p.I60S;5:132487934 - 132487934 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.444C > T;p.F148F;5:132486657 - 132486657 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.718-1G > T;p。?。5:132484498 - 132484498 |
large_intestine;盲肠 | 癌;腺癌 | 未知的 |
c.33G >;p.W11 *;5:132489446 - 132489446 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 替换-胡说 |
c.785G > T;p.G262V;5:132484430 - 132484430 |
胃 | 癌;intestinal_adenocarcinoma | 替换-错义 |
c.954C > G;p.I318M;5:132483975 - 132483975 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.975G >;p.P325P;5:132483954 - 132483954 |
前列腺癌 | 癌 | 替换-编码沉默 |