【佳学基因检测】质谱基因筛查F10基因存在基因突变该怎么理解？

基因检测的序列名称：

F10

人体基因序列变化与疾病表征数据库中的基因代码：

2159

人体基因序列数据库中国际交流名称全称

coagulation factor X

中国数据库中基因全称：

凝血因子X

基因检测报告英文版基因简介

This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

基因突变所影响的基因信息

该基因编码凝血级联的维生素K依赖性凝血因子X。该因子在经过三肽RKR切除后，其前原蛋白被转化为成熟的两链形式之前，需要经历多个加工步骤。该因子的两条链通过1个或多个二硫键连接在一起；轻链包含2个EGF样结构域，而重链包含催化结构域，该结构域与其他止血丝氨酸蛋白酶在结构上同源。通过因子IXa（在本征途径中）或因子VIIa（在非本征途径​​中）对激活肽的切割来激活成熟因子。然后，在凝血过程中，活化因子在凝血因子Va，Ca + 2和磷脂​​存在下将凝血酶原转化为凝血酶。该基因的突变导致X因子缺乏，这是一种严重程ು୔

国际国内该碱基基因序列的其他英语文字母简称：

FX, FXA

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13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：113777113；结束位置坐标为：113803843。该基因序列在GRCh38版本中的起始位置坐标为：113122799；结束位置坐标为：113149529。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/Hydrolases,Peptidases/Serine-type peptidases}

基因解码对该基因的功能分类：中文版

酶/{酶蛋白/水解酶，肽酶/丝氨酸型肽酶}

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）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

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）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

该基因序列变化后增加的疾病风险（国际版）：

Factor X Deficiency; Muscle hematoma; Reduced factor X activity; Prothrombin time increased; Hemarthrosis; Partial thromboplastin time increased (finding); Intracranial Hemorrhages; Menorrhagia; Gingival Hemorrhage; Blood Coagulation Disorders; Epistaxis; Thrombosis; Highly variable severity; Variable expressivity; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

因子缺乏症；肌肉血肿； X 因子活性降低；凝血酶原时间增加；关节积血;部分凝血活酶时间增加（发现）；颅内出血；月经过多;牙龈出血；血液凝固障碍；鼻出血；血栓形成；高度可变的严重性；可变表现力；常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

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）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

以该基因做靶点的药物（国际版）：

Antihemophilic Factor (Recombinant) (Serine-type endopeptidase activity);Coagulation factor VIIa Recombinant Human (Serine-type endopeptidase activity);Coagulation Factor IX (Recombinant) (Serine-type endopeptidase activity);Menadione (Serine-type endopeptidase activity);Fondaparinux sodium (Serine-type endopeptidase activity);Heparin (Serine-type endopeptidase activity);Enoxaparin (Serine-type endopeptidase activity);Gamma-Carboxy-Glutamic Acid (Serine-type endopeptidase activity);4-[(5-CHLOROINDOL-2-YL)SULFONYL]-2-(2-METHYLPROPYL)-1-[[5-(PYRIDIN-4-YL)PYRIMIDIN-2-YL]CARBONYL]PIPERAZINE (Serine-type endopeptidase activity);SSR-126517E (Serine-type endopeptidase activity);LY-517717 (Serine-type endopeptidase activity);Rivaroxaban (Serine-type endopeptidase activity);Apixaban (Serine-type endopeptidase activity);(2R,4R)-N~1~-(4-CHLOROPHENYL)-N~2~-[2-FLUORO-4-(2-OXOPYRIDIN-1(2H)-YL)PHENYL]-4-METHOXYPYRROLIDINE-1,2-DICARBOXAMIDE (Serine-type endopeptidase activity);(2R)-2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}PROPENE-1-SULFONAMIDE (Serine-type endopeptidase activity);THIENO[3,2-B]PYRIDINE-2-SULFONIC ACID [1-(1-AMINO-ISOQUINOLIN-7-YLMETHYL)-2-OXO-PYRROLDIN-3-YL]-AMIDE (Serine-type endopeptidase activity);2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHANESULFONAMIDE (Serine-type endopeptidase activity);2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHENESULFONAMIDE (Serine-type endopeptidase activity);2-({4-[(5-CHLORO-1H-INDOL-2-YL)SULFONYL]PIPERAZIN-1-YL}CARBONYL)THIENO[3,2-B]PYRIDINE 4-OXIDE (Serine-type endopeptidase activity);N-((1R,2S)-2-(5-CHLORO-1H-INDOLE-2-CARBOXAMIDO)CYCLOHEXYL)-5-METHYL-4,5,6,7-TETRAHYDROTHIAZOLO[5,4-C]PYRIDINE-2-CARBOXAMIDE (Serine-type endopeptidase activity);N-((1R,2R)-2-(5-CHLORO-1H-INDOLE-2-CARBOXAMIDO)CYCLOHEXYL)-5-METHYL-4,5,6,7-TETRAHYDROTHIAZOLO[5,4-C]PYRIDINE-2-CARBOXAMIDE (Serine-type endopeptidase activity);N-(2-(((5-CHLORO-2-PYRIDINYL)AMINO)SULFONYL)PHENYL)-4-(2-OXO-1(2H)-PYRIDINYL)BENZAMIDE (Serine-type endopeptidase activity);5-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}-1H-1,2,4-TRIAZOLE-3-SULFONAMIDE (Serine-type endopeptidase activity);5-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}-1-BENZOTHIOPHENE-2-SULFONAMIDE (Serine-type endopeptidase activity);6-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}-1-BENZOTHIOPHENE-2-SULFONAMIDE (Serine-type endopeptidase activity);6-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-(4-MORPHOLINYL)-2-OXO ETHYL]-2-OXO-3-PYRROLIDINYL}-2-NAPHTHALENESULFONAMIDE (Serine-type endopeptidase activity);5-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-5-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-SULFONAMIDE (Serine-type endopeptidase activity);5-chloro-N-[(3R)-1-(2-{[2-fluoro-4-(2-oxopyridin-1(2H)-yl)phenyl]amino}-2-oxoethyl)pyrrolidin-3-yl]thiophene-2-carboxamide (Serine-type endopeptidase activity);5-Chloro-thiophene-2-carboxylic acid ((3S,4S)-1-{[2-fluoro-4-(2-oxo-2H-pyridin-1-yl)-phenylcarbamoyl]-methyl}-4-hydroxy-pyrrolidin-3-yl)-amide (Serine-type endopeptidase activity);N-(1-ISOPROPYLPIPERIDIN-4-YL)-1-(3-METHOXYBENZYL)-1H-INDOLE-2-CARBOXAMIDE (Serine-type endopeptidase activity);1-{2-[(4-CHLOROPHENYL)AMINO]-2-OXOETHYL}-N-(1-ISOPROPYLPIPERIDIN-4-YL)-1H-INDOLE-2-CARBOXAMIDE (Serine-type endopeptidase activity);5-CHLORO-THIOPHENE-2-CARBOXYLIC ACID ((3S,4S)-4-FLUORO- 1-{[2-FLUORO-4-(2-OXO-2H-PYRIDIN-1-YL)-PHENYLCARBAMOYL]-METHYL}-PYRROLIDIN-3-YL)-AMIDE (Serine-type endopeptidase activity);5-CHLORO-N-(2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO)ETHYL)THIOPHENE-2-CARBOXAMIDE (Serine-type endopeptidase activity);5-CHLORO-N-((1R,2S)-2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO) CYCLOPENTYL)THIOPHENE-2-CARBOXAMIDE (Serine-type endopeptidase activity);THIENO[3,2-B]PYRIDINE-2-SULFONIC ACID [2-OXO-1-(1H-PYRROLO[2,3-C]PYRIDIN-2-YLMETHYL)-PYRROLIDIN-3-YL]-AMIDE (Serine-type endopeptidase activity);5-chloro-N-({(5S)-2-oxo-3-[4-(3-oxomorpholin-4-yl)phenyl]-1,3-oxazolidin-5-yl}methyl)thiophene-2-carboxamide (Serine-type endopeptidase activity);3-({4-[(6-CHLORO-1-BENZOTHIEN-2-YL)SULFONYL]-2-OXOPIPERAZIN-1-YL}METHYL)BENZENECARBOXIMIDAMIDE (Serine-type endopeptidase activity);4-{[(E)-2-(5-CHLOROTHIEN-2-YL)VINYL]SULFONYL}-1-(1H-PYRROLO[3,2-C]PYRIDIN-2-YLMETHYL)PIPERAZIN-2-ONE (Serine-type endopeptidase activity);4-({4-[(6-CHLORO-1-BENZOTHIEN-2-YL)SULFONYL]-2-OXOPIPERAZIN-1-YL}METHYL)BENZENECARBOXIMIDAMIDE (Serine-type endopeptidase activity);4-[[(1E)-2-(4-CHLOROPHENYL)ETHENYL]SULFONYL]-1-[[1-(4-PYRIDINYL)-4-PIPERIDINYL]METHYL]PIPERAZINONE (Serine-type endopeptidase activity);1-[[(1E)-2-(4-CHLOROPHENYL)ETHENYL]SULFONYL]-4-[[1-(4-PYRIDINYL)-4-PIPERIDINYL]METHYL]PIPERAZINE (Serine-type endopeptidase activity);Edoxaban (Serine-type endopeptidase 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）：

抗血友病因子（重组）（丝氨酸型内肽酶活性）；凝血因子 VIIa 重组人（丝氨酸型内肽酶活性）；凝血因子 IX（重组）（丝氨酸型内肽酶活性）；甲萘醌（丝氨酸型内肽酶活性）；磺达肝素钠（丝氨酸型内肽酶活性）；肝素（丝氨酸型内肽酶活性）；依诺肝素（丝氨酸型内肽酶活性）；γ-羧基谷氨酸（丝氨酸型内肽酶活性）；4-[(5-CHLOROINDOL-2 -YL)SULFONYL]-2-(2-METHYLPROPYL)-1-[[5-(PyRIDIN-4-YL)Pyrimidin-2-YL]CARBONYL]PIPERAZINE（丝氨酸型内肽酶活性）；SSR-126517E（丝氨酸-型内肽酶活性);LY-517717 (丝氨酸型内肽酶活性);利伐沙班(丝氨酸型内肽酶活性);阿哌沙班(丝氨酸型内肽酶活性);(2R,4R)-N~1~-(4-CHLOROPHENYL) -N~2~-[2-FLUORO-4-(2-OXOPYRIDIN-1(2H)-YL)PHENYL]-4-METHOXYPYRROLIDINE-1,2-DICARBOXAMIDE (Serine-type endopeptidase activity);(2R)-2 -(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}丙烯-1-磺酰胺（丝氨酸型内肽酶活性）；噻吩并 [3,2-B] 吡啶-2-磺酸 [1-(1-氨基-异喹啉-7-基甲基)-2-氧代-吡咯-3- YL]-AMIDE（丝氨酸型内肽酶活性）；2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL- 2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHANESULFONAMIDE (Serine-type endopeptidase activity);2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1- METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHENESULFONAMIDE（丝氨酸型内肽酶活性）；2-({4-[(5-CHLORO-1H-INDOL-2- YL)SULFONYL]PIPERAZIN-1-YL}Carbonyl)THIENO[3,2-B]Pyridine 4-OXIDE (Serine-type endopeptidase activity);N-((1R,2S)-2-(5-CHLORO-1H- INDOLE-2-CARBOXAMIDO)CYCLOHEXYL)-5-METHYL-4,5,6,7-TETRAHYDROTHIAZOLO[5,4-C]Pyridine-2-CARBOXAMIDE (Serine-type endopeptidase activity);N-((1R,2R) -2-(5-CHLORO-1H-INDOLE-2-CARBOXAMIDO)CYCLOHEXYL)-5-METHYL-4,5,6,7-TETRAHYDROTHIAZOLO[5,4-C]Pyridine-2-CARBOXAMIDE (Serine-type endopeptidase activity );N-(2-(((5-CHLORO-2-Pyridinyl)AMINO)SULFONYL)PHENYL)-4-(2-OXO-1(2H)-Pyridinyl)BENZAMIDE（丝氨酸型内肽酶活性）；5- (5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}- 1H-1,2,4-三唑-3-磺酰胺（丝氨酸型内肽酶活性）；5-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL -2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}-1-Benzothiophene-2-SULFONAMIDE（丝氨酸型内肽酶活性）；6-CHLORO-N-{(3S)-1-[(1S)-1- METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}-1-BENZOTHIOPHENE-2-SULFONAMIDE (Serine-type endopeptidase activity);6-CHLORO-N-{(3S)- 1-[(1S)-1-METHYL-2-(4-MORPHOLINYL)-2-OXO ETHYL]-2-OXO-3-PYRROLIDINYL}-2-NAPHTHALENESULFONAMIDE（丝氨酸型内肽酶活性）；5-CHLORO-N -{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-5-CHLORO-N-{(3S)-1-[(1S)-1-METHYL-2 -吗啉-4-YL-2-磺酰胺（丝氨酸型内肽酶活性）；5-氯-N-[(3R)-1-(2-{[2-fluoro-4-(2-oxopyridin-1(2H) )-yl)phenyl]amino}-2-oxoethyl)pyrrolidin-3-yl]thiophene-2-carboxamide (Serine-type endopeptidase activity);5-Chloro-thiophene-2-carboxylic acid ((3S,4S)-1 -{[2-fluoro-4-(2-oxo-2H-pyridin-1-yl)-phenylcarbamoyl]-methyl}-4-hydroxy-pyrrolidin-3-yl)-amide (Serine-type endopeptidase activity);N -(1-异丙基哌啶-4-YL)-1-(3-甲氧基苄基)-1H-吲哚-2-甲酰胺（丝氨酸型内肽酶活性）；1-{2-[(4-氯苯基)氨基]-2- OXOETHYL}-N-(1-ISOPROPYLPIPERIDIN-4-YL)-1H-INDOLE-2-CARBOXAMIDE（丝氨酸型内肽酶活性）；5-CHLORO-THIOPHENE-2-CARBOXYLIC ACID ((3S,4S)-4-FLUORO - 1-{[2-FLUORO-4-(2-OXO-2H-PYRIDIN-1-YL)-PHENYLCARBAMOYL]-METHYL}-PYRROLIDIN-3-YL)-AMIDE（丝氨酸型内肽酶活性）；5-CHLORO -N-(2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO)ETHYL)THIOPHENE-2-CARBOXAMIDE（丝氨酸型内肽酶活性）；5-CHLORO-N-((1R,2S) -2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO) CYCLOPENTYL)THIOPHENE-2-CARBOXAMIDE（丝氨酸型内肽酶活性）；THIENO[3,2-B]Pyridine-2-Sulfonic Acid [ 2-OXO-1-(1H-PYRROLO[2,3-C]PYRIDIN-2-YLMETHYL)-PYRROLIDIN-3-YL]-AMIDE（丝氨酸型内肽酶活性）；5-氯-N-（{（5S )-2-oxo-3-[4-(3-oxomorpholin-4-yl)phenyl]-1,3-oxazolidin-5-yl}methyl)thiophene-2-carboxamide (Serine-type endopeptidase activity);3- ({4-[(6-CHLORO-1-BENZOTHIEN-2-YL)SULFONYL]-2-OXOPIPERAZIN-1-YL}METHYL)BENZENECARBOXIMIDAMIDE（丝氨酸型内肽酶活性）；4-{[(E)-2- (5-CHLOROTHIEN-2-YL)VINYL]SULFONYL}-1-(1H-PYRROLO[3,2-C]PYRIDIN-2-YLMETHYL)PIPERAZIN-2-ONE（丝氨酸型内肽酶活性）；4-({ 4-[(6-CHLORO-1-BENZOTHIEN-2-YL)SULFONYL]-2-OXOPIPERAZIN-1-YL}METHYL)BENZENECARBOXIMIDAMIDE (Serine-type endopeptidase activity);4-[[(1E)-2-(4 -氯苯基)乙烯基]磺酰基]-1-[[1-(4-吡啶基)-4-哌啶基]甲基]哌嗪酮(丝氨酸型内肽酶活性);1-[[(1E)-2-(4-氯苯基) ETHENYL]SUlfonyl]-4-[[1-(4-Pyridinyl)-4-PIPERIDINYL]METHYL]PIPERAZINE（丝氨酸型内肽酶活性）；依度沙班（丝氨酸型内肽酶活性）