【佳学基因检测】医学院专升本关于CREBBP遗传测试的基本技能

基因检测的序列名称：

CREBBP

人体基因序列变化与疾病表征数据库中的基因代码：

1387

人体基因序列数据库中国际交流名称全称

CREB binding protein

中国数据库中基因全称：

CREB结合蛋白

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

该基因无处不在表达，并参与许多不同转录因子的转录共激活。首先被分离为与cAMP反应元件结合蛋白（CREB）结合的核蛋白，现在已知该基因通过将染色质重塑与转录因子识别相结合，在胚胎发育，生长控制和体内平衡中发挥关键作用。该基因编码的蛋白质具有固有的组蛋白乙酰转移酶活性，还可以充当支架来稳定其他蛋白质与转录复合物的相互作用。该蛋白将组蛋白和非组蛋白都乙酰化。该蛋白质在其溴结构域，富含半胱氨酸-组氨酸的区域和组蛋白乙酰转移酶结构域中与蛋白质p300具有非常高的序列相似性区域。该基因的突变会导致鲁宾斯坦-泰比综合ು୔

国际国内该碱基基因序列的其他英语文字母简称：

CBP, KAT3A, MKHK1, RSTS, RSTS1

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第16号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：3775055；结束位置坐标为：3930121。该基因序列在GRCh38版本中的起始位置坐标为：3725054；结束位置坐标为：3880727。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Transferases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/转移酶

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Nuclear bodies;Nucleoplasm

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

核体；核质

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

染色体 16p13.3 缺失综合征近端；牙齿数量异常；屈光异常；鼻中隔偏曲；高轴向三角半径；第一和第二脚趾之间的足底折痕；拇指末端指骨的径向偏差；鲁宾斯坦-泰比综合征；外翻牙；前牙内侧有额外的牙尖；做鬼脸；球体收缩和内收偏差；头发螺纹;幻觉复制； Duane 异常导致眼球活动受限；附睾乳头状囊腺瘤;拇趾指骨的部分/完全复制；利爪尖端；上翘的额发图案；前额发际线上翘；血管环；广场恐惧症；双歧子宫；脉络膜视网膜营养不良；低悬小柱；圆形小柱；内源性抑郁症；乳房过早发育；颈椎异常；角膜异常；角膜病；枕骨大孔增生；枕骨大孔周长增加；枕骨大孔直径增加；枕骨大孔； Legg-Calve-Perthes病；突出的指尖垫；杜安退缩综合征；绳索综合症；镜像运动障碍；冲动行为；泪道阻塞；鼻泪管阻塞；减少浓度跨度；披肩阴囊;睡眠呼吸暂停阻塞性；皮肤草莓痣；恐声症；协调性差；肾脏先天性异常;脊柱裂隐匿；展开的髂翼；先天性桡骨头脱位；喉软化症；自残；发育不全的髂翼；淋巴瘤滤泡性；狭窄的上颚；反复上呼吸道感染；肥胖腹部；塞扎里综合症；大拇指；囟门晚闭；多指；大拇指；步态不稳；巨结肠；单横向手掌折痕；低前发际线；癌移行细胞；胎记;牙釉质基质缺陷；牙釉质发育不全；牙釉质发育不良;薄牙釉质；牛奶咖啡点；长长的睫毛;凸鼻梁；瘢痕疙瘩;刻板行为；先天性眼部缺损（疾病）；先天性巨结肠症；刻板运动障碍；耳廓畸形；弓形和向上倾斜的眉毛；简单的耳朵；浓密的喇叭形眉毛；肺癌小细胞癌；并指;呼吸窘迫；宽大的前囟门；牙齿尺寸的牙弓长度不足；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；多毛症；肌萎缩侧索硬化 2型；浓密的眉毛;后发际线低；关节松弛；后颌畸形；角度 2 级错牙合；角度 3 级错牙合；咬合不正；产后发育迟缓；肺腺癌（疾病）；眼球内陷；凹陷的眼睛；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；后天性扁平足；扁平足;孤立个案；动脉导管未闭；小口症；食道鳞状细胞癌；心脏传导异常；心电图异常；心电图改变；胼胝体发育不全；心脏传导障碍；心电图异常；羊水过多;房间隔缺损；多动行为；关节挛缩；屈曲挛缩；关节屈曲挛缩；挛缩;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;腺样囊性癌；心律失常;漏斗胸;脑电图异常；阴茎尿道下裂;双侧小指弯曲；小指弯曲；膀胱肿瘤；言语和语言发育迟缓；肾脏疾病；语言延迟；语音延迟；言语障碍；青光眼;鳞状细胞癌;室间隔缺损；骨龄延迟；排便困难；便秘;正面凸起；睑裂向下倾斜；高度可变的严重性；可变表现力；婴儿喂养困难；先天性内眦赘皮；低位耳朵；先天性耳聋；部分听力损失；拜占庭拱形上颚；耳聋；听力受损;反射亢进；晶状体混浊；宽扁的鼻梁；鼻梁宽；上睑下垂；白内障;隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；自闭症；脊柱弯曲；未能增加体重；儿科发育不良；小头;前列腺肿瘤；躁郁症;身材矮小；癫痫;肌肉张力减退；癫痫发作；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;精神分裂症

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

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以该基因做靶点的药物（国际版）：

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

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE（锌离子结合）