【佳學(xué)基因檢測(cè)】BUB1B疾病風(fēng)險(xiǎn)評(píng)估的作用
基因檢測(cè)的序列名稱(chēng):
BUB1B
人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼:
701
人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱(chēng)全稱(chēng)
BUB1 mitotic checkpoint serine/threonine kinase B
中國(guó)數(shù)據(jù)庫(kù)中基因全稱(chēng):
BUB1有絲分裂檢查點(diǎn)絲氨酸/蘇氨酸激酶B
基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
基因突變所影響的基因信息
該基因編碼參與紡錘體檢查點(diǎn)功能的激酶。該蛋白質(zhì)已定位于動(dòng)粒,并在抑制后期促進(jìn)復(fù)合物/環(huán)體(APC / C),延遲后期開(kāi)始并確保適當(dāng)?shù)娜旧w分離中起作用。在許多形式的癌癥中都發(fā)現(xiàn)了紡錘體檢查點(diǎn)功能受損。[由RefSeq提供,2008年7月]
國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語(yǔ)文字母簡(jiǎn)稱(chēng):
BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1
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(lèi)第15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:40453210;結(jié)束位置坐標(biāo)為:40513337。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:40161009;結(jié)束位置坐標(biāo)為:40221136。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(lèi):國(guó)際版
Enzymes/{ENZYME proteins/Transferases,Kinases}
基因解碼對(duì)該基因的功能分類(lèi):中文版
酶/{酶蛋白/轉(zhuǎn)移酶、激酶}
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(guó)際版):
Cytosol
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):
胞質(zhì)溶膠
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(國(guó)際版):
Hypodysplasia of the corpus callosum; PREMATURE CHROMATID SEPARATION TRAIT; Premature chromatid separation; Cerebral hypoplasia; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; Combined immunodeficiency; Hypoplastic sternum; Rhabdomyosarcoma, Embryonal; Short sternum; Increased nuchal translucency; Triangular mouth; Leiomyosarcoma of uterus; Rhabdomyosarcoma; Bifid scrotum; Transitional cell carcinoma of bladder; Hereditary nonpolyposis colorectal carcinoma; Nephroblastoma; Ascites; Increased gastric cancer; Hematologic Neoplasms; Ambiguous Genitalia; Microcephaly; Cystic kidney; Renal cyst; Dandy-Walker Syndrome; Profound Mental Retardation; Profound intellectual disabilities; Maternal oligohydramnios; Oligohydramnios; Growth Disorders; Wide nose; Generalized myoclonic seizures; Muscle biopsy shows dystrophic changes; Abnormality of vision; Generalized hypotonia; Epilepsies, Myoclonic; Muscular Dystrophy; Global developmental delay, severe; Severe psychomotor retardation; Myoclonic Epilepsies, Progressive; Clouding of corneal stroma; Corneal Opacity; leukemia; Tonic - clonic seizures; Postnatal growth retardation; Triangular face; Posteriorly rotated ear; Cerebellar Hypoplasia; Low Birth Weights; Small for gestational age (disorder); Upward slant of palpebral fissure; Squamous cell carcinoma of esophagus; Agenesis of corpus callosum; Polyhydramnios; Brachycephaly; Broad cranium shape; Wide skull shape; Abnormally small eyeball; Decreased size of eyeball; Microphthalmos; High forehead; Tall forehead; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Penile hypospadias; Hydrocephalus; Glaucoma; Dilated ventricles (finding); Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Long philtrum; Renal Cell Carcinoma; Short neck; Highly variable clinical phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Phenotypic variability; Uranostaphyloschisis; Feeding difficulties in infancy; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Fetal Growth Retardation; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Lens Opacities; Colorectal Neoplasms; Cataract; Orbital separation excessive; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Stomach Neoplasms; Nystagmus; Small head; Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Autosomal recessive predisposition
如果該基因突變后,風(fēng)險(xiǎn)可能增加的疾病類(lèi)型(中文版):
胼胝體發(fā)育不良;染色單體過(guò)早分離特征;過(guò)早的染色單體分離;腦發(fā)育不全;馬賽克雜色非整倍體綜合征;聯(lián)合免疫缺陷;胸骨發(fā)育不全;橫紋肌肉瘤胚胎;短胸骨;增加頸部半透明層;三角嘴;子宮平滑肌肉瘤;橫紋肌肉瘤;雙歧陰囊;膀胱移行細(xì)胞癌;遺傳性非息肉病性結(jié)直腸癌;腎母細(xì)胞瘤;腹水;增加胃癌;血液腫瘤;不明確的生殖器;小頭畸形;囊性腎;腎囊腫;花花公子沃克綜合癥;嚴(yán)重精神發(fā)育遲滯;極度智力障礙;母體羊水過(guò)少;羊水過(guò)少;生長(zhǎng)障礙;寬鼻子;全身性肌陣攣發(fā)作;肌肉活檢顯示營(yíng)養(yǎng)不良性改變;視力異常;廣泛性肌張力減退;癲癇、肌陣攣;肌營(yíng)養(yǎng)不良癥;整體發(fā)育遲緩嚴(yán)重;嚴(yán)重的精神運(yùn)動(dòng)遲緩;肌陣攣性癲癇進(jìn)行性;角膜基質(zhì)混濁;角膜混濁;白血病;強(qiáng)直 - 陣攣發(fā)作;產(chǎn)后發(fā)育遲緩;三角臉;向后旋轉(zhuǎn)的耳朵;小腦發(fā)育不全;低出生體重;小于胎齡兒(疾?。?;瞼裂向上傾斜;食道鱗狀細(xì)胞癌;胼胝體發(fā)育不全;羊水過(guò)多;短頭畸形;寬顱骨形狀;寬顱骨形狀;異常小的眼球;眼球變?。恍⊙矍?高額頭;額頭高;面部中部突出減少;中面部營(yíng)養(yǎng)不良;面中部后縮;中臉小;陰莖尿道下裂;腦積水;青光眼;擴(kuò)張的心室(發(fā)現(xiàn));營(yíng)養(yǎng)不良的顴骨;顴骨變平;鼻子短;小鼻子;長(zhǎng)人中;腎細(xì)胞癌;脖子短;高度可變的臨床表型;高度可變的表型和嚴(yán)重程度;高度可變的表型即使在家庭內(nèi)部也是如此;表型變異性; Uranostaphyloschisis;嬰兒喂養(yǎng)困難;嬰兒小于胎齡兒;宮內(nèi)發(fā)育遲緩;先天性內(nèi)眥贅皮;先天性陰莖發(fā)育不全;低位耳朵;胎兒生長(zhǎng)遲緩;鼻孔前傾;鼻梁凹陷;鼻梁凹陷;鼻根/鼻梁凹陷;腭裂;晶狀體混濁;結(jié)直腸腫瘤;白內(nèi)障;軌道分離過(guò)度;隱睪;發(fā)育不全的下頜骨髁;下頜發(fā)育不全;小頜畸形;胃腫瘤;眼球震顫;小頭;身材矮??;認(rèn)知延遲;整體發(fā)育遲緩;智力和運(yùn)動(dòng)遲緩;智力遲鈍;智力低下;智力低下;精神缺陷;學(xué)習(xí)成績(jī)差;智力殘疾;常染色體隱性易感性
GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)(國(guó)際版):
正在通過(guò)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(lèi)基因序列變化與疾病表征數(shù)據(jù)庫(kù)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(lèi)(中文版):
正在通過(guò)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(lèi)基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容
以該基因做靶點(diǎn)的藥物(國(guó)際版):
正在通過(guò)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(lèi)基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容
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):
正在通過(guò)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(lèi)基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容
(責(zé)任編輯:佳學(xué)基因)