【佳學(xué)基因檢測】主治醫(yī)師基因測試EGFR內(nèi)容要點(diǎn)
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(bào)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(jié)合的細(xì)胞表面蛋白。蛋白質(zhì)與配體的結(jié)合誘導(dǎo)受體二聚化和酪氨酸自磷酸化并導(dǎo)致細(xì)胞增殖。該基因的突變與肺癌有關(guān)。[由RefSeq提供,2016年6月]
國際國內(nèi)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(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào):
該基因序列位于人類第7號(hào)染色體上。
基因解碼對(duì)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(biāo)為:55086678;結(jié)束位置坐標(biāo)為:55279262。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:55019032;結(jié)束位置坐標(biāo)為:55207338。正確的基因信息定位是基因檢測和對(duì)檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。
佳學(xué)基因解碼對(duì)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(duì)該基因的功能分類:中文版
酶/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS通路相關(guān)蛋白
結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所(國際版):
Plasma membrane
結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置(中文版):
質(zhì)膜(增強(qiáng)型)
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(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(fēng)險(xiǎn)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(fù)性細(xì)支氣管炎;常染色體隱性多囊腎病;鼻咽腫瘤;粉刺;膿包;膽囊腫瘤;巨細(xì)胞膠質(zhì)母細(xì)胞瘤;腺瘤性結(jié)腸息肉??;細(xì)支氣管肺泡腺癌;膠質(zhì)肉瘤;直腸腫瘤;腎上腺皮質(zhì)癌;膽管癌;乳頭狀瘤;頭頸腫瘤;子宮頸腫瘤;肺部傳染?。欢喟l(fā)性肺部感染;反復(fù)性肺炎;反復(fù)肺部感染;腫瘤反復(fù)局部;氯痤瘡;大麻濫用;長長的睫毛;間皮瘤;關(guān)節(jié)炎實(shí)驗(yàn)性的;肺癌小細(xì)胞癌;濫用酒精;骨肉瘤;丘疹;肺腺癌(疾病);食道腫瘤;急性腎損傷;胰島素抵抗;膠質(zhì)母細(xì)胞瘤;食道鱗狀細(xì)胞癌;心肌病擴(kuò)張型;卵巢腫瘤;惡性間皮瘤;非小細(xì)胞肺癌;嘔吐;腺癌;膀胱腫瘤;鱗狀細(xì)胞癌;血壓升高;結(jié)腸腫瘤;動(dòng)物乳腺腫瘤;腫瘤侵襲;顱面異常;乳腺腫瘤實(shí)驗(yàn)性的;子宮內(nèi)膜異位癥;糖尿病非胰島素依賴性;腫瘤轉(zhuǎn)移;肺腫瘤;結(jié)直腸腫瘤;肝癌;單極抑郁癥;嚴(yán)重抑郁癥;酒精中毒慢性;高血壓??;胃腫瘤;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(guān)聯(lián)(國際版):
Glioma
GWAS基因檢測所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類(中文版):
膠質(zhì)瘤
以該基因做靶點(diǎn)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(duì)該基因所產(chǎn)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(jié)合);曲妥珠單抗(泛素蛋白連接酶結(jié)合);利多卡因(泛素蛋白連接酶結(jié)合);吉非替尼(泛素蛋白連接酶結(jié)合);厄洛替尼(泛素蛋白連接酶結(jié)合);拉帕替尼(泛素蛋白連接酶結(jié)合);帕尼單抗(泛素蛋白連接酶結(jié)合);Flavopiridol(泛素蛋白連接酶結(jié)合);IGN311(泛素蛋白連接酶結(jié)合);Matuzumab(泛素蛋白連接酶結(jié)合);Vandetanib(泛素蛋白連接酶結(jié)合);HuMax-EGFr(泛素蛋白連接酶結(jié)合);CDX- 110(泛素蛋白連接酶結(jié)合);CI-1033(泛素蛋白連接酶結(jié)合);IMC-11F8(泛素蛋白連接酶結(jié)合);INSM-18(泛素蛋白連接酶結(jié)合);S-{3-[(4-ANILINOQUINAZOLIN-6 -YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE(泛素蛋白連接酶結(jié)合);N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE(泛素蛋白連接酶結(jié)合);阿法替尼(泛素蛋白連接酶結(jié)合);Osimertinib(泛素蛋白連接酶結(jié)合);Necitumumab(泛素蛋白連接酶結(jié)合)
(責(zé)任編輯:佳學(xué)基因)