【佳學(xué)基因檢測】質(zhì)譜基因篩查F10基因存在基因突變該怎么理解？

基因檢測的序列名稱：

F10

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2159

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

coagulation factor X

中國數(shù)據(jù)庫中基因全稱：

凝血因子X

基因檢測報告英文版基因簡介

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]

基因突變所影響的基因信息

該基因編碼凝血級聯(lián)的維生素K依賴性凝血因子X。該因子在經(jīng)過三肽RKR切除后，其前原蛋白被轉(zhuǎn)化為成熟的兩鏈形式之前，需要經(jīng)歷多個加工步驟。該因子的兩條鏈通過1個或多個二硫鍵連接在一起；輕鏈包含2個EGF樣結(jié)構(gòu)域，而重鏈包含催化結(jié)構(gòu)域，該結(jié)構(gòu)域與其他止血絲氨酸蛋白酶在結(jié)構(gòu)上同源。通過因子IXa（在本征途徑中）或因子VIIa（在非本征途徑??中）對激活肽的切割來激活成熟因子。然后，在凝血過程中，活化因子在凝血因子Va，Ca + 2和磷脂??存在下將凝血酶原轉(zhuǎn)化為凝血酶。該基因的突變導(dǎo)致X因子缺乏，這是一種嚴重程??

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

FX, FXA

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13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：113777113；結(jié)束位置坐標為：113803843。該基因序列在GRCh38版本中的起始位置坐標為：113122799；結(jié)束位置坐標為：113149529。正確的基因信息定位是基因檢測和對檢測結(jié)果進行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Enzymes/{ENZYME proteins/Hydrolases,Peptidases/Serine-type peptidases}

基因解碼對該基因的功能分類：中文版

酶/{酶蛋白/水解酶，肽酶/絲氨酸型肽酶}

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細胞內(nèi)發(fā)揮作用的場所（國際版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內(nèi)位置（中文版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

該基因序列變化后增加的疾病風(fēng)險（國際版）：

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

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

因子缺乏癥；肌肉血腫； X 因子活性降低；凝血酶原時間增加；關(guān)節(jié)積血;部分凝血活酶時間增加（發(fā)現(xiàn)）；顱內(nèi)出血；月經(jīng)過多;牙齦出血；血液凝固障礙；鼻出血；血栓形成；高度可變的嚴重性；可變表現(xiàn)力；常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

正在通過基因解碼技術(shù)進行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

以該基因做靶點的藥物（國際版）：

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)

針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

抗血友病因子（重組）（絲氨酸型內(nèi)肽酶活性）；凝血因子 VIIa 重組人（絲氨酸型內(nèi)肽酶活性）；凝血因子 IX（重組）（絲氨酸型內(nèi)肽酶活性）；甲萘醌（絲氨酸型內(nèi)肽酶活性）；磺達肝素鈉（絲氨酸型內(nèi)肽酶活性）；肝素（絲氨酸型內(nèi)肽酶活性）；依諾肝素（絲氨酸型內(nèi)肽酶活性）；γ-羧基谷氨酸（絲氨酸型內(nèi)肽酶活性）；4-[(5-CHLOROINDOL-2 -YL)SULFONYL]-2-(2-METHYLPROPYL)-1-[[5-(PyRIDIN-4-YL)Pyrimidin-2-YL]CARBONYL]PIPERAZINE（絲氨酸型內(nèi)肽酶活性）；SSR-126517E（絲氨酸-型內(nèi)肽酶活性);LY-517717 (絲氨酸型內(nèi)肽酶活性);利伐沙班(絲氨酸型內(nèi)肽酶活性);阿哌沙班(絲氨酸型內(nèi)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（絲氨酸型內(nèi)肽酶活性）；噻吩并 [3,2-B] 吡啶-2-磺酸 [1-(1-氨基-異喹啉-7-基甲基)-2-氧代-吡咯-3- YL]-AMIDE（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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 -嗎啉-4-YL-2-磺酰胺（絲氨酸型內(nèi)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-異丙基哌啶-4-YL)-1-(3-甲氧基芐基)-1H-吲哚-2-甲酰胺（絲氨酸型內(nèi)肽酶活性）；1-{2-[(4-氯苯基)氨基]-2- OXOETHYL}-N-(1-ISOPROPYLPIPERIDIN-4-YL)-1H-INDOLE-2-CARBOXAMIDE（絲氨酸型內(nèi)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（絲氨酸型內(nèi)肽酶活性）；5-CHLORO -N-(2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO)ETHYL)THIOPHENE-2-CARBOXAMIDE（絲氨酸型內(nèi)肽酶活性）；5-CHLORO-N-((1R,2S) -2-(4-(2-OXOPYRIDIN-1(2H)-YL)BENZAMIDO) CYCLOPENTYL)THIOPHENE-2-CARBOXAMIDE（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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（絲氨酸型內(nèi)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?；鵠-1-[[1-(4-吡啶基)-4-哌啶基]甲基]哌嗪酮(絲氨酸型內(nèi)肽酶活性);1-[[(1E)-2-(4-氯苯基) ETHENYL]SUlfonyl]-4-[[1-(4-Pyridinyl)-4-PIPERIDINYL]METHYL]PIPERAZINE（絲氨酸型內(nèi)肽酶活性）；依度沙班（絲氨酸型內(nèi)肽酶活性）