【佳學基因檢測】EP300基因篩查的意義

基因檢測的序列名稱：

EP300

人體基因序列變化與疾病表征數據庫中的基因代碼：

2033

人體基因序列數據庫中國際交流名稱全稱

E1A binding protein p300

中國數據庫中基因全稱：

E1A結合蛋白p300

基因檢測報告英文版基因簡介

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

該基因編碼與腺病毒E1A相關的細胞p300轉錄共激活蛋白。它起組蛋白乙酰轉移酶的作用，通過染色質重塑來調節(jié)轉錄，在細胞增殖和分化過程中起重要作用。它通過與磷酸化的CREB蛋白特異性結合來介導cAMP基因的調控。該基因還被鑒定為HIF1A（缺氧誘導因子1α）的共激活因子，因此在刺激缺氧誘導的基因（如VEGF）中發(fā)揮作用。該基因的缺陷是Rubinstein-Taybi綜合征的病因，也可能在上皮癌中起作用。[由RefSeq提供，2008年7月]

國際國內該堿基基因序列的其他英語文字母簡稱：

KAT3B, MKHK2, RSTS2, p300

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22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：41488614；結束位置坐標為：41576081。該基因序列在GRCh38版本中的起始位置坐標為：41092610；結束位置坐標為：41180077。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

基因解碼對該基因的功能分類：中文版

酶/酶蛋白/轉移酶

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）：

Nucleoplasm

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）：

核質

該基因序列變化后增加的疾病風險（國際版）：

RUBINSTEIN-TAYBI SYNDROME 2; Abnormal number of teeth; Abnormality of refraction; Deviated nasal septum; High axial triradius; Plantar crease between first and second toes; Radial deviation of thumb terminal phalanx; Rubinstein-Taybi Syndrome; Dens evaginatus; Extra cusp on inside of front tooth; Facial grimacing; Globe retraction and deviation on adduction; Hair whorls; Hallucal duplication; Limited eye motility from Duane anomaly; Papillary cystadenoma of the epididymis; Partial/complete duplication of the phalanges of the hallux; Talon cusp; Upswept frontal hair pattern; Upswept frontal hairline; Vascular ring; Agoraphobia; Bifid uterus; Chorioretinal dystrophy; Deep overbite; Low hanging columella; Overbite; Posterior lingual occlusion of mandibular teeth; Rounded columella; Premature development of the breasts; Cervical vertebral abnormalities; Corneal abnormalities; Cornela disease; Hyperplasia of foramen magnum; Increased circumference of foramen magnum; Increased diameter of foramen magnum; Large foramen magnum; Legg-Calve-Perthes Disease; Prominent fingertip pads; Duane Retraction Syndrome; Tethered Cord Syndrome; Mirror movements disorder; Impulsive Behavior; Lacrimal Duct Obstruction; Obstruction of nasolacrimal duct; Reduced concentration span; Shawl scrotum; Sleep Apnea, Obstructive; Strawberry nevus of skin; Phonophobia; Poor coordination; Congenital anomaly of the kidney; Spina Bifida Occulta; Flared iliac wings; Leiomyosarcoma of uterus; T-Cell Lymphoma; Congenital dislocation of radial head; Laryngomalacia; Self Mutilation; Transitional cell carcinoma of bladder; Hereditary nonpolyposis colorectal carcinoma; Hypoplastic iliac wing; Narrow palate; Increased gastric cancer; Recurrent upper respiratory tract infection; Hyperplasia of nose; Hypertrophy of nose; Large nose; Obesity, Abdominal; Broad thumbs; Late fontanel closure; Polydactyly; Broad hallux; Gait, Unsteady; Megacolon; Single transverse palmar crease; Low anterior hairline; Stevens-Johnson Syndrome; Carcinoma, Transitional Cell; Birthmark; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Cafe-au-Lait Spots; Long eyelashes; Convex nasal ridge; Keloid; Stereotyped Behavior; Congenital ocular coloboma (disorder); Hirschsprung Disease; Stereotypic Movement Disorder; Auricular malformation; Bowed and upward slanting eyebrows; Simple ear; Thick, flared eyebrows; Small cell carcinoma of lung; Syndactyly; Respiratory distress; Wide anterior fontanel; Inadequate arch length for tooth size; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Hirsutism; Bushy eyebrows; Low posterior hairline; Endometrial Neoplasms; Joint laxity; Retrognathia; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Postnatal growth retardation; Adenocarcinoma of lung (disorder); Enophthalmos; Sunken eyes; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Mild Mental Retardation; Acquired flat foot; Flatfoot; Dental caries; Rotting teeth; Isolated cases; Patent ductus arteriosus; Microstomia; Squamous cell carcinoma of esophagus; Cardiac conduction abnormalities; EKG abnormalities; Electrocardiogram change; Agenesis of corpus callosum; Conduction disorder of the heart; Electrocardiogram abnormal; Polyhydramnios; Atrial Septal Defects; Hyperactive behavior; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Adenoid Cystic Carcinoma; Cardiac Arrhythmia; Pectus excavatum; Electroencephalogram abnormal; Penile hypospadias; Bilateral fifth finger clinodactyly; Curvature of little finger; Bladder Neoplasm; Delayed speech and language development; Kidney Diseases; Language Delay; Speech Delay; Speech impairment; Glaucoma; Squamous cell carcinoma; Ventricular Septal Defects; Delayed bone age; Dyschezia; Prenatal onset; Renal Cell Carcinoma; Constipation; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Highly variable severity; Variable expressivity; Feeding difficulties in infancy; Congenital Epicanthus; Low set ears; Congenital deafness; Hearing Loss, Partial; Byzanthine arch palate; Deafness; hearing impairment; Hyperreflexia; melanoma; Lens Opacities; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Cataract; Cryptorchidism; Strabismus; Obesity; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Autistic Disorder; Curvature of spine; Alcoholic Intoxication, Chronic; Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Small head; Mammary Neoplasms; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

如果該基因突變后，風險可能增加的疾病類型（中文版）：

魯賓斯坦-泰比綜合征 2型；牙齒數量異常；屈光異常；鼻中隔偏曲；高軸向三角半徑；先進和第二腳趾之間的足底折痕；拇指末端指骨的徑向偏差；魯賓斯坦-泰比綜合征；外翻牙；前牙內側有額外的牙尖；做鬼臉；球體收縮和內收偏差；頭發(fā)螺紋;幻覺復制； Duane 異常導致眼球活動受限；附睪乳頭狀囊腺瘤;拇趾指骨的部分/有效復制；利爪先進；上翹的額發(fā)圖案；前額發(fā)際線上翹；血管環(huán)；廣場恐懼癥；雙歧子宮；脈絡膜視網膜營養(yǎng)不良；深覆合；低懸小柱；覆合；下頜牙齒的后舌咬合；圓形小柱；乳房過早發(fā)育；頸椎異常；角膜異常；角膜病；枕骨大孔增生；枕骨大孔周長增加；枕骨大孔直徑增加；枕骨大孔； Legg-Calve-Perthes?。煌怀龅闹讣鈮|；杜安退縮綜合征；繩索綜合癥；鏡像運動障礙；沖動行為；淚道阻塞；鼻淚管阻塞；減少濃度跨度；披肩陰囊;睡眠呼吸暫停阻塞性；皮膚草莓痣；恐聲癥；協(xié)調性差；腎臟先天性異常;脊柱裂隱匿；展開的髂翼；子宮平滑肌肉瘤; T 細胞淋巴瘤；先天性橈骨頭脫位；喉軟化癥；自殘；膀胱移行細胞癌；遺傳性非息肉病性結直腸癌；發(fā)育不全的髂翼；狹窄的上顎；增加胃癌；反復上呼吸道感染；鼻子增生;鼻子肥大;大鼻子；肥胖腹部；大拇指；囟門晚閉；多指；大拇指；步態(tài)不穩(wěn)；巨結腸;單橫向手掌折痕；低前發(fā)際線；史蒂文斯-約翰遜綜合癥；癌移行細胞；胎記;牙釉質基質缺陷；牙釉質發(fā)育不全；牙釉質發(fā)育不良;薄牙釉質；牛奶咖啡點；長長的睫毛;凸鼻梁；瘢痕疙瘩;刻板行為；先天性眼部缺損（疾?。?a href='http://jinzhounet.cn/cp/chabiyin/' target='_blank'>先天性巨結腸癥；刻板運動障礙；耳廓畸形；弓形和向上傾斜的眉毛；簡單的耳朵；濃密的喇叭形眉毛；肺癌小細胞癌；并指;呼吸窘迫；寬大的前囟門；牙齒尺寸的牙弓長度不足；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；多毛癥；濃密的眉毛;后發(fā)際線低；子宮內膜腫瘤；關節(jié)松弛；后頜畸形；角度 2 級錯牙合；角度 3 級錯牙合；咬合不正；產后發(fā)育遲緩；肺腺癌（疾?。?；眼球內陷；凹陷的眼睛；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營養(yǎng)不良；上頜后縮;上頜骨后縮；輕度智力低下；后天性扁平足；扁平足;齲齒;蛀牙；孤立個案；動脈導管未閉；小口癥；食道鱗狀細胞癌；心臟傳導異常；心電圖異常；心電圖改變；胼胝體發(fā)育不全；心臟傳導障礙；心電圖異常；羊水過多;房間隔缺損；多動行為；關節(jié)攣縮；屈曲攣縮；關節(jié)屈曲攣縮；攣縮;眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;腺樣囊性癌；心律失常;漏斗胸;腦電圖異常；陰莖尿道下裂;雙側小指彎曲；小指彎曲；膀胱腫瘤；言語和語言發(fā)育遲緩；腎臟疾??；語言延遲；語音延遲；言語障礙；青光眼;鱗狀細胞癌;室間隔缺損；骨齡延遲；排便困難；產前發(fā)作；腎細胞癌；便秘;顱面異常；正面凸起；瞼裂向下傾斜；高度可變的嚴重性；可變表現(xiàn)力；嬰兒喂養(yǎng)困難；先天性內眥贅皮；低位耳朵；先天性耳聾；部分聽力損失；拜占庭拱形上顎；耳聾；聽力受損;反射亢進；黑色素瘤;晶狀體混濁；結直腸腫瘤；寬扁的鼻梁；鼻梁寬；上瞼下垂；白內障;隱睪;斜視；肥胖;發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；后天性脊柱側凸；自閉癥；脊柱彎曲；酒精中毒慢性；胃腫瘤；未能增加體重；兒科發(fā)育不良；小頭;乳腺腫瘤；身材矮?。?a href='http://jinzhounet.cn/cp/chabiyin/shenjin/2023/40917.html' target='_blank'>癲癇;肌肉張力減退；癲癇發(fā)作；認知延遲；整體發(fā)育遲緩；智力和運動遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學習成績差；智力殘疾

GWAS基因檢測所建立的與該基因的疾病關聯(lián)（國際版）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數據庫的更新內容

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）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數據庫的更新內容

以該基因做靶點的藥物（國際版）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數據庫的更新內容

針對該基因所產生的突變，可能有正確效果的藥物（中文版）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數據庫的更新內容