【佳學基因檢測】主治醫(yī)師基因測試EGFR內容要點
基因檢測的序列名稱:
EGFR
人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼:
1956
人體基因序列數(shù)據(jù)庫中國際交流名稱全稱
epidermal growth factor receptor
中國數(shù)據(jù)庫中基因全稱:
表皮生長因子受體
基因檢測報告英文版基因簡介
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]
基因突變所影響的基因信息
該基因編碼的蛋白是跨膜糖蛋白,它是蛋白激酶超家族的成員。該蛋白是表皮生長因子家族成員的受體。EGFR是與表皮生長因子結合的細胞表面蛋白。蛋白質與配體的結合誘導受體二聚化和酪氨酸自磷酸化并導致細胞增殖。該基因的突變與肺癌有關。[由RefSeq提供,2016年6月]
國際國內該堿基基因序列的其他英語文字母簡稱:
ERBB, ERBB1, HER1, NISBD2, PIG61, mENA
基因解碼對該基因序列在細胞核中的染色體所給予的編號:
該基因序列位于人類第7號染色體上。
基因解碼對基因序列的正確定位
該基因序列在GRCh37版本中的起始位置坐標為:55086678;結束位置坐標為:55279262。該基因序列在GRCh38版本中的起始位置坐標為:55019032;結束位置坐標為:55207338。正確的基因信息定位是基因檢測和對檢測結果進行正確解讀的關鍵。
佳學基因解碼對該基因的功能分類:國際版
Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS pathway related proteins
基因解碼對該基因的功能分類:中文版
酶/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS通路相關蛋白
結構與功能基因解碼所揭示的該基因在細胞內發(fā)揮作用的場所(國際版):
Plasma membrane
結構與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內位置(中文版):
質膜(增強型)
該基因序列變化后增加的疾病風險(國際版):
Bile Duct Neoplasms; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; Recurrent bronchiolitis; Autosomal Recessive Polycystic Kidney Disease; Nasopharyngeal Neoplasms; Pimples; pustule; gallbladder neoplasm; Giant Cell Glioblastoma; Adenomatous Polyposis Coli; Bronchioloalveolar Adenocarcinoma; gliosarcoma; Rectal Neoplasms; Adrenocortical carcinoma; Cholangiocarcinoma; Papilloma; Head and Neck Neoplasms; Uterine Cervical Neoplasm; Infectious disease of lung; Multiple pulmonary infections; Recurrent pneumonia; Recurrent pulmonary infections; Neoplasm Recurrence, Local; Chloracne; Marijuana Abuse; Long eyelashes; Mesothelioma; Arthritis, Experimental; Small cell carcinoma of lung; Alcohol abuse; Osteosarcoma; Papule; Adenocarcinoma of lung (disorder); Esophageal Neoplasms; Acute kidney injury; Insulin Resistance; Glioblastoma; Squamous cell carcinoma of esophagus; Cardiomyopathy, Dilated; ovarian neoplasm; Malignant mesothelioma; Non-Small Cell Lung Carcinoma; Vomiting; Adenocarcinoma; Bladder Neoplasm; Squamous cell carcinoma; Increase in blood pressure; Colonic Neoplasms; Animal Mammary Neoplasms; Neoplasm Invasiveness; Craniofacial Abnormalities; Mammary Neoplasms, Experimental; Endometriosis; Diabetes Mellitus, Non-Insulin-Dependent; Neoplasm Metastasis; Lung Neoplasms; Colorectal Neoplasms; Liver carcinoma; Unipolar Depression; Major Depressive Disorder; Alcoholic Intoxication, Chronic; Hypertensive disease; Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Mammary Neoplasms; Prostatic Neoplasms; Autosomal recessive predisposition
如果該基因突變后,風險可能增加的疾病類型(中文版):
膽管腫瘤;炎癥性皮膚和腸道疾病新生兒2型;反復性細支氣管炎;常染色體隱性多囊腎??;鼻咽腫瘤;粉刺;膿包;膽囊腫瘤;巨細胞膠質母細胞瘤;腺瘤性結腸息肉??;細支氣管肺泡腺癌;膠質肉瘤;直腸腫瘤;腎上腺皮質癌;膽管癌;乳頭狀瘤;頭頸腫瘤;子宮頸腫瘤;肺部傳染??;多發(fā)性肺部感染;反復性肺炎;反復肺部感染;腫瘤反復局部;氯痤瘡;大麻濫用;長長的睫毛;間皮瘤;關節(jié)炎實驗性的;肺癌小細胞癌;濫用酒精;骨肉瘤;丘疹;肺腺癌(疾?。?;食道腫瘤;急性腎損傷;胰島素抵抗;膠質母細胞瘤;食道鱗狀細胞癌;心肌病擴張型;卵巢腫瘤;惡性間皮瘤;非小細胞肺癌;嘔吐;腺癌;膀胱腫瘤;鱗狀細胞癌;血壓升高;結腸腫瘤;動物乳腺腫瘤;腫瘤侵襲;顱面異常;乳腺腫瘤實驗性的;子宮內膜異位癥;糖尿病非胰島素依賴性;腫瘤轉移;肺腫瘤;結直腸腫瘤;肝癌;單極抑郁癥;嚴重抑郁癥;酒精中毒慢性;高血壓?。晃改[瘤;未能增加體重;兒科發(fā)育不良;乳腺腫瘤;前列腺腫瘤;常染色體隱性易感性
GWAS基因檢測所建立的與該基因的疾病關聯(lián)(國際版):
Glioma
GWAS基因檢測所解碼的該基因突變會增加風險的疾病種類(中文版):
膠質瘤
以該基因做靶點的藥物(國際版):
Cetuximab (Ubiquitin protein ligase binding);Trastuzumab (Ubiquitin protein ligase binding);Lidocaine (Ubiquitin protein ligase binding);Gefitinib (Ubiquitin protein ligase binding);Erlotinib (Ubiquitin protein ligase binding);Lapatinib (Ubiquitin protein ligase binding);Panitumumab (Ubiquitin protein ligase binding);Flavopiridol (Ubiquitin protein ligase binding);IGN311 (Ubiquitin protein ligase binding);Matuzumab (Ubiquitin protein ligase binding);Vandetanib (Ubiquitin protein ligase binding);HuMax-EGFr (Ubiquitin protein ligase binding);CDX-110 (Ubiquitin protein ligase binding);CI-1033 (Ubiquitin protein ligase binding);IMC-11F8 (Ubiquitin protein ligase binding);INSM-18 (Ubiquitin protein ligase binding);S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE (Ubiquitin protein ligase binding);N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE (Ubiquitin protein ligase binding);Afatinib (Ubiquitin protein ligase binding);Osimertinib (Ubiquitin protein ligase binding);Necitumumab (Ubiquitin protein ligase binding)
針對該基因所產生的突變,可能有正確效果的藥物(中文版):
西妥昔單抗(泛素蛋白連接酶結合);曲妥珠單抗(泛素蛋白連接酶結合);利多卡因(泛素蛋白連接酶結合);吉非替尼(泛素蛋白連接酶結合);厄洛替尼(泛素蛋白連接酶結合);拉帕替尼(泛素蛋白連接酶結合);帕尼單抗(泛素蛋白連接酶結合);Flavopiridol(泛素蛋白連接酶結合);IGN311(泛素蛋白連接酶結合);Matuzumab(泛素蛋白連接酶結合);Vandetanib(泛素蛋白連接酶結合);HuMax-EGFr(泛素蛋白連接酶結合);CDX- 110(泛素蛋白連接酶結合);CI-1033(泛素蛋白連接酶結合);IMC-11F8(泛素蛋白連接酶結合);INSM-18(泛素蛋白連接酶結合);S-{3-[(4-ANILINOQUINAZOLIN-6 -YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE(泛素蛋白連接酶結合);N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE(泛素蛋白連接酶結合);阿法替尼(泛素蛋白連接酶結合);Osimertinib(泛素蛋白連接酶結合);Necitumumab(泛素蛋白連接酶結合)
(責任編輯:佳學基因)