【佳学基因检测】ACVR1融合基因突变是怎么导致疾病发生的？

基因检测的序列名称：

ACVR1

人体基因序列变化与疾病表征数据库中的基因代码：

90

人体基因序列数据库中国际交流名称全称

activin A receptor type 1

中国数据库中基因全称：激活素A受体1型基因检测报告英文版基因简介

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

激活素是二聚体生长和分化因子，属于结构相关信号蛋白的转化生长因子-β（TGF-beta）超家族。激活素通过受体丝氨酸激酶的异聚复合物发出信号，所述受体丝氨酸激酶包括至少两个I型（I和IB）和两个II型（II和IIB）受体。这些受体都是跨膜蛋白，由具有半胱氨酸富集区的配体结合细胞外结构域，跨膜结构域和具有预测的丝氨酸/苏氨酸特异性的胞质结构域组成。I型受体对于信号转导至关重要。II型和II型受体对于结合配体和I型受体的表达是必需的。I型和II型受体在配体结合后形成稳定的复合物，导致I型受体被II型受体磷酸化ು୔

国际国内该碱基因序列的其他英语文字母简称：

ACTRIA, ACVRLK2, ALK2, FOP, SKR1, TSRI, ACVR1

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2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：158592958；结束位置坐标为：158732374。该基因序列在GRCh38版本中的起始位置坐标为：157736446；结束位置坐标为：157875880。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,Kinases/TKL Ser/Thr protein kinases}

基因解码对该基因的功能分类：中文版

酶/{ENZYME proteins/Transferases,Kinases/TKL Ser/Thr protein kinases}

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）：

Cytosol;Nucleoli(Approved)

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）：

胞质溶胶；核仁

该基因序列变化后增加的疾病风险（国际版）：

Abnormality of the first metatarsal bone; Aplasia/Hypoplasia of the phalanges of the hallux; Ectopic ossification in ligament tissue; Ectopic ossification in tendon tissue; Fibrodysplasia Ossificans Progressiva; Myositis Ossificans; Progressive cervical vertebral spine fusion; Small cervical vertebral bodies; Ectopic ossification in muscle tissue; Broad femoral neck; Short first metacarpals; Spinal rigidity; Abnormal vertebral bodies; Congenital anomaly of spine; Multiple vertebral anomalies; Short hallux; Acute Lung Injury; Metaphyseal widening; Bunion; Hallux Valgus; Astrocytoma; Widely spaced teeth; Decreased joint mobility; Multiple, subcutaneous nodules; Subcutaneous nodule; Respiratory Failure; Glioma; Alopecia; Bilateral fifth finger clinodactyly; Curvature of little finger; Conductive hearing loss; Respiratory function loss; Respiratory Insufficiency; Congenital deafness; Hearing Loss, Partial; Deafness; hearing impairment; Acquired scoliosis; Curvature of spine; Sensorineural Hearing Loss (disorder); Mammary Neoplasms

如果该基因突变后，风险可能增加的疾病类型（中文版）：

第一跖骨异常；拇趾指骨发育不全/发育不全；韧带组织异位骨化；肌腱组织异位骨化；进行性骨化纤维发育不良；骨化性肌炎；进行性颈椎融合术；小颈椎体；肌肉组织异位骨化；宽大的股骨颈；第一掌骨短；脊柱僵硬；椎体异常；先天性脊柱畸形；多发脊椎异常；短拇指；急性肺损伤；干骺端扩大；拇囊炎;拇外翻；星形细胞瘤；宽间距的牙齿；关节活动度下降；多个皮下结节；皮下结节；呼吸衰竭;神经胶质瘤；脱发；双侧小指弯曲；小指弯曲；传导性听力损失；呼吸功能丧失；呼吸功能不全；先天性耳聋；部分听力损失；耳聋；听力受损;后天性脊柱侧凸；脊柱弯曲；感音神经性听力损失（障碍）；乳腺肿瘤

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Death, Sudden, Cardiac

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）：

死亡, 突然, 心脏病

以该基因做靶点的药物（国际版）：

Adenosine triphosphate (Transmembrane receptor protein serine/threonine kinase activity);6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine (Transmembrane receptor protein serine/threonine kinase activity)

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

三磷酸腺苷（跨膜受体蛋白丝氨酸/苏氨酸激酶活性）；6-[4-(2-哌啶-1-基乙氧基)苯基]-3-吡啶-4-基吡唑并[1,5-a]嘧啶（跨膜受体蛋白丝氨酸/苏氨酸激酶活性）