【佳學基因檢測】訊飛星火認知大模型中EZH2基因測試知識信息源分析
基因檢測的序列名稱：
EZH2
人體基因序列變化與疾病表征數據庫中的基因代碼：
2146
人體基因序列數據庫中國際交流名稱全稱
enhancer of zeste 2 polycomb repressive complex 2 subunit
中國數據庫中基因全稱：
Zeste 2聚梳抑制復合物2亞基的增強子
基因檢測報告英文版基因簡介
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
基因突變所影響的基因信息
此基因編碼Polycomb-group（PcG）家族的成員。PcG家族成員形成多聚體蛋白復合物，在連續(xù)的細胞世代中參與維持基因的轉錄抑制狀態(tài)。該蛋白與胚胎外胚層發(fā)育蛋白，VAV1癌蛋白和X連鎖核蛋白相關。該蛋白可能在造血和中樞神經系統中起作用。已經為該基因鑒定了編碼不同同工型的多個交替的轉錄本變體。[由RefSeq提供，2011年2月]
國際國內該堿基基因序列的其他英語文字母簡稱：
ENX-1, ENX1b, KMT6, KMT6A, WVS, WVS2, EZH2
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7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：148504464；結束位置坐標為：148581441。該基因序列在GRCh38版本中的起始位置坐標為：148807372；結束位置坐標為：148884662。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）：
Dysharmonic bone age; Flared humeral metaphysis; Flared humerus; Myelodysplastic-Myeloproliferative Diseases; Upper Extremity Deformities, Congenital; Deep-set nails; Flared femoral metaphysis; Primary Myelofibrosis; Weaver syndrome; Limited knee extension; Dilation of lateral ventricles; Short fourth metatarsals; Thin nails; Abnormally low-pitched voice; Prominent fingertip pads; Inversion of nipple (disorder); Calcaneovalgus deformity; Leukemia, Megakaryoblastic, of Down Syndrome; Slurred speech; Testicular Hydrocele; CLEFT CHIN; Diastasis recti; Overriding toe; Absence of septum pellucidum; Large hand; Broad feet; Hypoplastic iliac wing; Lymphoma, Follicular; Juvenile Myelomonocytic Leukemia; Limited elbow extension; Deep philtrum; Depressed philtrum; Coxa valga; Coxa valga deformity; Hypoplastic toenails; Cutis Laxa; Generalized elastolysis; Hanging skin; Metatarsus Varus; Toeing-in; Broad thumbs; Redundant skin; Contracture of joint of hand; Short ribs; Hoarseness; Diffuse Large B-Cell Lymphoma; Tall stature; Advanced bone age; MYELODYSPLASTIC SYNDROME; Radially deviated fingers; Congenital Camptodactyly; Fine hair; Craniosynostosis; Osteosarcoma; Round face; Round, full face; Abnormality of the metaphyses; Abnormal behavior; Abnormality of the fingernails; Endometrial Neoplasms; Retrognathia; Broad forehead; Congenital clinodactyly; Curvature of digit; Sparse hair; Thin, sparse hair; Flexion contracture of proximal interphalangeal joint; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; Umbilical hernia; mandibular excess (physical finding); Joint stiffness; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Congenital pes cavus; Muscle Hypertonia; Hernia, Inguinal; Congenital clubfoot; Low-set, posteriorly rotated ears; Hyperkyphosis; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Kyphosis deformity of spine; Long philtrum; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Downward slant of palpebral fissure; Feeding difficulties in infancy; Congenital Epicanthus; Dysarthria; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Muscle Spasticity; Orbital separation excessive; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Mammary Neoplasms; Prostatic Neoplasms; 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）：
骨齡失調；擴張的肱骨干骺端；擴張的肱骨；骨髓增生異常-骨髓增生性疾??；上肢畸形先天性；深嵌指甲；喇叭形股骨干骺端；原發(fā)性骨髓纖維化；韋弗綜合癥；膝關節(jié)伸展受限；側腦室擴張;第四跖骨短；細指甲；聲音異常低沉；突出的指尖墊；乳頭內陷（紊亂）；跟骨外翻畸形；白血病、巨核細胞、唐氏綜合癥；言語不清;睪丸鞘膜積液；下巴裂；腹直肌分離;壓倒腳趾；沒有透明隔膜；大手；寬腳；發(fā)育不全的髂翼；淋巴瘤濾泡性；幼年型粒單核細胞白血??；肘部伸展受限；深人中;抑郁的人中；髖外翻；髖外翻畸形；發(fā)育不全的腳趾甲；皮膚松弛；廣泛性彈性組織溶解；掛皮；跖骨內翻；前束；大拇指；多余的皮膚；手關節(jié)攣縮；短肋;嘶啞;彌漫性大 B 細胞淋巴瘤；身材高大；骨齡提前；骨髓增生異常綜合癥;徑向偏離的手指;先天性彎曲指；細毛；顱縫早閉；骨肉瘤;圓臉;圓形全臉；干骺端異常；異常行為;指甲異常；子宮內膜腫瘤；后頜畸形；額頭寬闊；先天性斜指；數字曲率；稀疏的頭發(fā)；稀疏的頭發(fā)；近端指間關節(jié)屈曲攣縮； III 類咬合不正；下頜肥大;下頜骨增大；下頜骨增生;臍疝;下頜過長（物理發(fā)現）；關節(jié)僵硬；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;先天性高弓足；肌肉張力亢進；疝氣腹股溝；先天性馬蹄內翻足；位置低、向后旋轉的耳朵；脊柱后凸;言語和語言發(fā)育遲緩；語言延遲；語音延遲；言語障礙；脊柱后凸畸形；長人中；大顱骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；瞼裂向下傾斜；嬰兒喂養(yǎng)困難；先天性內眥贅皮；構音障礙；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；肌肉痙攣；軌道分離過度；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；后天性脊柱側凸；脊柱彎曲；乳腺腫瘤；前列腺腫瘤；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（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
