【佳學(xué)基因檢測(cè)】醫(yī)學(xué)院專升本關(guān)于CREBBP遺傳測(cè)試的基本技能

基因檢測(cè)的序列名稱：

CREBBP

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1387

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

CREB binding protein

中國數(shù)據(jù)庫中基因全稱：

CREB結(jié)合蛋白

基因檢測(cè)報(bào)告英文版基因簡介

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]

基因突變所影響的基因信息

該基因無處不在表達(dá)，并參與許多不同轉(zhuǎn)錄因子的轉(zhuǎn)錄共激活。首先被分離為與cAMP反應(yīng)元件結(jié)合蛋白（CREB）結(jié)合的核蛋白，現(xiàn)在已知該基因通過將染色質(zhì)重塑與轉(zhuǎn)錄因子識(shí)別相結(jié)合，在胚胎發(fā)育，生長控制和體內(nèi)平衡中發(fā)揮關(guān)鍵作用。該基因編碼的蛋白質(zhì)具有固有的組蛋白乙酰轉(zhuǎn)移酶活性，還可以充當(dāng)支架來穩(wěn)定其他蛋白質(zhì)與轉(zhuǎn)錄復(fù)合物的相互作用。該蛋白將組蛋白和非組蛋白都乙?；?。該蛋白質(zhì)在其溴結(jié)構(gòu)域，富含半胱氨酸-組氨酸的區(qū)域和組蛋白乙酰轉(zhuǎn)移酶結(jié)構(gòu)域中與蛋白質(zhì)p300具有非常高的序列相似性區(qū)域。該基因的突變會(huì)導(dǎo)致魯賓斯坦-泰比綜合??

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

CBP, KAT3A, MKHK1, RSTS, RSTS1

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16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：3775055；結(jié)束位置坐標(biāo)為：3930121。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：3725054；結(jié)束位置坐標(biāo)為：3880727。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)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

基因解碼對(duì)該基因的功能分類：中文版

酶/酶蛋白/轉(zhuǎn)移酶

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(chǎng)所（國際版）：

Nuclear bodies;Nucleoplasm

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）：

核體；核質(zhì)

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL; 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; Low hanging columella; Rounded columella; Endogenous depression; 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; Congenital dislocation of radial head; Laryngomalacia; Self Mutilation; Hypoplastic iliac wing; Lymphoma, Follicular; Narrow palate; Recurrent upper respiratory tract infection; Obesity, Abdominal; Sezary Syndrome; Broad thumbs; Late fontanel closure; Polydactyly; Broad hallux; Gait, Unsteady; Megacolon; Single transverse palmar crease; Low anterior hairline; 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; AMYOTROPHIC LATERAL SCLEROSIS 1; Bushy eyebrows; Low posterior hairline; 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; Acquired flat foot; Flatfoot; 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; Constipation; 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; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Cataract; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Autistic Disorder; Curvature of spine; Failure to gain weight; Pediatric failure to thrive; Small head; Prostatic Neoplasms; Bipolar Disorder; Short stature; Epilepsy; Muscle hypotonia; Seizures; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

染色體 16p13.3 缺失綜合征近端；牙齒數(shù)量異常；屈光異常；鼻中隔偏曲；高軸向三角半徑；先進(jìn)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(nèi)側(cè)有額外的牙尖；做鬼臉；球體收縮和內(nèi)收偏差；頭發(fā)螺紋;幻覺復(fù)制； Duane 異常導(dǎo)致眼球活動(dòng)受限；附睪乳頭狀囊腺瘤;拇趾指骨的部分/有效復(fù)制；利爪先進(jìn)；上翹的額發(fā)圖案；前額發(fā)際線上翹；血管環(huán)；廣場(chǎng)恐懼癥；雙歧子宮；脈絡(luò)膜視網(wǎng)膜營養(yǎng)不良；低懸小柱；圓形小柱；內(nèi)源性抑郁癥；乳房過早發(fā)育；頸椎異常；角膜異常；角膜??；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??；突出的指尖墊；杜安退縮綜合征；繩索綜合癥；鏡像運(yùn)動(dòng)障礙；沖動(dòng)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(diào)性差；腎臟先天性異常;脊柱裂隱匿；展開的髂翼；先天性橈骨頭脫位；喉軟化癥；自殘；發(fā)育不全的髂翼；淋巴瘤濾泡性；狹窄的上顎；反復(fù)上呼吸道感染；肥胖腹部；塞扎里綜合癥；大拇指；囟門晚閉；多指；大拇指；步態(tài)不穩(wěn)；巨結(jié)腸；單橫向手掌折痕；低前發(fā)際線；癌移行細(xì)胞；胎記;牙釉質(zhì)基質(zhì)缺陷；牙釉質(zhì)發(fā)育不全；牙釉質(zhì)發(fā)育不良;薄牙釉質(zhì)；牛奶咖啡點(diǎn)；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(jié)腸癥；刻板運(yùn)動(dòng)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(xì)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；肌萎縮側(cè)索硬化 2型；濃密的眉毛;后發(fā)際線低；關(guān)節(jié)松弛；后頜畸形；角度 2 級(jí)錯(cuò)牙合；角度 3 級(jí)錯(cuò)牙合；咬合不正；產(chǎn)后發(fā)育遲緩；肺腺癌（疾?。?；眼球內(nèi)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；后天性扁平足；扁平足;孤立個(gè)案；動(dòng)脈導(dǎo)管未閉；小口癥；食道鱗狀細(xì)胞癌；心臟傳導(dǎo)異常；心電圖異常；心電圖改變；胼胝體發(fā)育不全；心臟傳導(dǎo)障礙；心電圖異常；羊水過多;房間隔缺損；多動(dòng)行為；關(guān)節(jié)攣縮；屈曲攣縮；關(guān)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(cè)小指彎曲；小指彎曲；膀胱腫瘤；言語和語言發(fā)育遲緩；腎臟疾病；語言延遲；語音延遲；言語障礙；青光眼;鱗狀細(xì)胞癌;室間隔缺損；骨齡延遲；排便困難；便秘;正面凸起；瞼裂向下傾斜；高度可變的嚴(yán)重性；可變表現(xiàn)力；嬰兒喂養(yǎng)困難；先天性內(nèi)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(jìn)；晶狀體混濁；寬扁的鼻梁；鼻梁寬；上瞼下垂；白內(nèi)障;隱睪;斜視；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(cè)凸；自閉癥；脊柱彎曲；未能增加體重；兒科發(fā)育不良；小頭;前列腺腫瘤；躁郁癥;身材矮??；癲癇;肌肉張力減退；癲癇發(fā)作；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾;精神分裂癥

GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

GWAS基因檢測(cè)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）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（國際版）：

9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE (Zinc ion 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）：

9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE（鋅離子結(jié)合）