【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：

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)際交流名稱全稱

BUB1 mitotic checkpoint serine/threonine kinase B

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

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：

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：國(guó)際版

Enzymes/{ENZYME proteins/Transferases,Kinases}

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、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)可能增加的疾病類型（中文版）：

胼胝體發(fā)育不良；染色單體過早分離特征；過早的染色單體分離；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；母體羊水過少;羊水過少;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?。魂幥o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?。徽J(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(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（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(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(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(kù)的更新內(nèi)容