【佳學(xué)基因檢測(cè)】婦科分子病理檢測(cè)能力檢查中如何準(zhǔn)備關(guān)于FGFR1的問(wèn)題

基因檢測(cè)的序列名稱(chēng)：

FGFR1

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：

2260

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱(chēng)全稱(chēng)

fibroblast growth factor receptor 1

中國(guó)數(shù)據(jù)庫(kù)中基因全稱(chēng)：

成纖維細(xì)胞生長(zhǎng)因子受體1

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

該基因編碼的蛋白質(zhì)是成纖維細(xì)胞生長(zhǎng)因子受體（FGFR）家族的成員，其中成員之間以及整個(gè)進(jìn)化過(guò)程中氨基酸序列高度保守。FGFR家族成員的配體親和力和組織分布彼此不同。全長(zhǎng)代表性蛋白由細(xì)胞外區(qū)域組成，該細(xì)胞外區(qū)域由三個(gè)免疫球蛋白樣結(jié)構(gòu)域，單個(gè)疏水性跨膜區(qū)段和細(xì)胞質(zhì)酪氨酸激酶結(jié)構(gòu)域組成。蛋白質(zhì)的細(xì)胞外部分與成纖維細(xì)胞生長(zhǎng)因子相互作用，使一系列下游信號(hào)運(yùn)動(dòng)，賊終影響有絲分裂和分化。這個(gè)特殊的家庭成員結(jié)合酸性和堿性成纖維細(xì)胞生長(zhǎng)因子，并參與肢體誘導(dǎo)。該基因的突變與Pfeiffer綜合征，Jackson-Weiss綜??

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(chēng)：

BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1

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(lèi)第8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：38268656；結(jié)束位置坐標(biāo)為：38326352。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：38411138；結(jié)束位置坐標(biāo)為：38468834。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(lèi)：國(guó)際版

CD markers;Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS pathway related proteins

基因解碼對(duì)該基因的功能分類(lèi)：中文版

CD 標(biāo)記；酶/{酶蛋白/轉(zhuǎn)移酶，激酶/Tyr 蛋白激酶}；RAS 通路相關(guān)蛋白

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）：

Nucleoli

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）：

核仁

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME; Encephalocraniocutaneous lipomatosis; Failure of tooth eruption; Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate; Linear hyperpigmentation; Lipomas of the central neryous system; Lumbar hemivertebra; Multiple unerupted teeth; Osteoglophonic dwarfism; Pseudarthrosis; Antley-Bixler Syndrome, Autosomal Dominant; Calcaneonavicular fusion; Cartilaginous trachea; Interfrontal craniofaciosynostosis; JACKSON-WEISS SYNDROME; Nasal congestion (finding); Pfeiffer Syndrome; Pfeiffer type acrocephalosyndactyly; Benign neoplasm of eye, unspecified; Bicoronal synostosis; Dermoid choristoma of eye proper; Hallux Varus; Nasal obstruction present finding; Short middle phalanx of toe; Anterior chamber anomalies; Brachyturricephaly; Widened phalanges; Arachnoid Cysts; Broad metacarpals; Broad metatarsals; Meckel Diverticulum; Widened metatarsal shaft; Chordee; Cloverleaf cranium shape; Disproportionately short middle phalanges; Non-midline cleft lip; Ankylosis of the elbow joint; Bronchomalacia; Cloverleaf skull; Increased size of penis; Pilocytic Astrocytoma; Short extremities; Broad hallux phalanx; Mirror movements disorder; Radiohumeral synostosis of elbow; Ramer Ladda syndrome; Abnormality of the nasopharynx; Idiopathic hypogonadotropic hypogonadism; Subaortic stenosis; Subcutaneous lipomas; Thumb absent or hypoplastic; Hypoplasia of iris; Pelvic kidney; Triangular head shape; Trigonocephaly; Wedge shaped head; Arnold Chiari Malformation; Choanal stenosis; Septo-Optic Dysplasia; Giant Cell Glioblastoma; Abnormality of body height; Anterior pituitary hypoplasia; Cortical Dysplasia; Increased female libido; Pituitary hypoplasia; Shallow orbits; Abnormality of the clavicle; Coronal craniosynostosis; Eunuchoid habitus; Hypoplastic scapulae; Hypothalamic gonadotropin-releasing hormone deficiency; Peripheral pulmonary artery stenosis; Sclerocornea; Coloboma of eyelid; Erectile abnormalities; Myeloproliferative disease; Short hallux; Spade-like hand; gliosarcoma; Absence of pubertal development; Female hypogonadism syndrome; Kallmann Syndrome 2 (disorder); Anterior hypopituitarism; Broad feet; Hyperplasia of supraorbital margins; Hyperplasia of supraorbital ridge; Hypertrophy of supraorbital margins; Hypertrophy of supraorbital ridge; Preauricular skin tag; Prominent supraorbital ridges; Skin tag on the posterior cheek; Kallmann Syndrome; Lobar Holoprosencephaly; Agenesis of teeth; Congenital cerebral hernia; Congenital omphalocele; Increased susceptibility to fractures; Reduced number of teeth; Sense of smell impaired; Short metatarsal; Testicular hypogonadism; Absence of secondary sex characteristics; Anosmia; Hypoplastic toenails; Lipoma; Missing more than six teeth; Non-obstructive azoospermia; Hypoplasia or absence of the corpus callosum; Infantile uterus; Orbital separation diminished; Secondary physiologic amenorrhea; Simple syndactyly of toes, first web space; Abnormality of cardiovascular system morphology; Oligodontia; Congenital hypoplasia of breast; Claw hand; Rhizomelia; Broad thumbs; Choanal Atresia; Decreased testosterone in males; Astrocytoma; Broad hallux; Radial aplasia/hypoplasia; Congenital hypoplasia of ovary; Hypoplastic ovary; Abnormally-shaped vertebrae; Bowing of the long bones; Dandy-Walker Syndrome; Decreased bone mineral density Z score; Erectile dysfunction; Short phalanx of finger; Sparse body hair; Decreased fertility; Failure to thrive in infancy; Dwarfism; Hemiplegia and hemiparesis; Skull malformation; Synophrys; Small cell carcinoma of lung; Syndactyly; Respiratory distress; Craniosynostosis; Short metacarpal; Inadequate arch length for tooth size; Syndactyly of the toes; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Abnormality of the voice; Wide spaced nipples; Syndactyly of fingers; Short hands; Primary physiologic amenorrhea; Gynecomastia; Prominent ear; Protruding ears; Platyspondyly; Decreased width of tooth; Microdontia (disorder); Cerebellar Hypoplasia; Decreased size of teeth; Telecanthus; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Hydronephrosis; Hypoplastic feet; Hypogonadism, Isolated Hypogonadotropic; Hypogonadotropic hypogonadism; Isolated cases; Small testicle; Class III malocclusion; Glioma; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Cleft Lip; Agenesis of corpus callosum; Hypodontia; Atrial Septal Defects; Brachycephaly; Broad cranium shape; Wide skull shape; Hernia, Inguinal; Hypoplasia of corpus callosum; Alopecia; Abnormally small eyeball; Decreased size of eyeball; Delayed Puberty; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Generalized osteopenia; Osteopenia; Microphthalmos; High forehead; Tall forehead; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Penile hypospadias; Non-Small Cell Lung Carcinoma; Low-set, posteriorly rotated ears; Hydrocephalus; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Anxiety; Anxiety disease; Squamous cell carcinoma; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Delayed bone age; Long philtrum; Respiratory Insufficiency; Short neck; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Osteoporosis; Uranostaphyloschisis; Low Vision; Visual Impairment; Infant, Small for Gestational Age; Intrauterine retardation; Congenital hypoplasia of penis; Low set ears; Fetal Growth Retardation; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Lung Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Orbital separation excessive; Unipolar Depression; Mental Depression; Cryptorchidism; Major Depressive Disorder; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Sensorineural Hearing Loss (disorder); Nystagmus; Failure to gain weight; Pediatric failure to thrive; Small head; Depressive disorder; Mammary Neoplasms; Bipolar Disorder; Short stature; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類(lèi)型（中文版）：

染色體 8p11 骨髓增殖綜合征；腦顱皮膚脂肪瘤?。谎例X萌出失?。蝗澳X畸形、外指畸形和雙側(cè)唇腭裂；線性色素沉著；中央神經(jīng)系統(tǒng)的脂肪瘤；腰椎半椎；多顆未萌牙；骨侏儒癥；假關(guān)節(jié); Antley-Bixler 綜合征常染色體顯性遺傳；跟舟融合術(shù)；軟骨氣管;額間顱面縫早閉； JACKSON-WEISS 綜合癥；鼻塞（發(fā)現(xiàn)）；菲佛綜合癥； Pfeiffer 型尖頭并指畸形；良性眼腫瘤未明確；雙冠縫早閉；眼睛本身的皮樣肉瘤；拇外翻；目前發(fā)現(xiàn)鼻塞；腳趾的短中間指骨；前房異常；短頭畸形；加寬指骨；蛛網(wǎng)膜囊腫；廣泛的掌骨；廣泛的跖骨;麥克爾憩室；加寬跖骨軸；琴弦;三葉草顱骨形狀；中間指骨不成比例地短；非中線唇裂；肘關(guān)節(jié)強(qiáng)直;支氣管軟化癥；三葉草頭骨；陰莖增大；毛細(xì)胞星形細(xì)胞瘤；四肢短；廣泛的拇趾指骨;鏡像運(yùn)動(dòng)障礙；肘關(guān)節(jié)橈肱關(guān)節(jié)早閉； Ramer Ladda 綜合癥；鼻咽異常;特發(fā)性低促性腺激素性腺功能減退癥;主動(dòng)脈瓣下狹窄；皮下脂肪瘤;拇指缺失或發(fā)育不全；虹膜發(fā)育不全;盆腔腎臟;三角形頭型；三角頭畸形；楔形頭； Arnold Chiari 畸形；后鼻孔狹窄；視神經(jīng)發(fā)育不良；巨細(xì)胞膠質(zhì)母細(xì)胞瘤；身高異常；垂體前葉發(fā)育不全;皮質(zhì)發(fā)育不良；增加女性性欲；垂體發(fā)育不全;淺軌道；鎖骨異常;冠狀顱縫早閉；太監(jiān)慣習(xí)；肩胛骨發(fā)育不全；下丘腦促性腺激素釋放激素缺乏癥；外周肺動(dòng)脈狹窄；角膜硬化;眼瞼缺損；勃起異常；骨髓增生性疾?。欢棠粗?；鏟狀手；膠質(zhì)肉瘤;缺乏青春期發(fā)育；女性性腺機(jī)能減退癥候群；卡爾曼綜合癥 2（障礙）；前垂體功能減退癥;寬腳；眶上緣增生；眶上脊增生；眶上緣肥大；眶上脊肥大；耳前皮贅；突出的眶上脊；臉頰后部的皮膚標(biāo)簽；卡爾曼綜合癥；大葉全腦畸形；牙齒發(fā)育不全;先天性腦疝；先天性臍膨出；骨折易感性增加；牙齒數(shù)量減少；嗅覺(jué)受損；短跖骨;睪丸性腺功能減退癥;沒(méi)有第二性征；嗅覺(jué)喪失；發(fā)育不全的腳趾甲；脂肪瘤;缺失超過(guò)六顆牙齒；非阻塞性無(wú)精子癥；胼胝體發(fā)育不全或缺失；嬰兒子宮;軌道分離減少；繼發(fā)性生理性閉經(jīng)；簡(jiǎn)單的腳趾并指先進(jìn)個(gè)網(wǎng)頁(yè)空間；心血管系統(tǒng)形態(tài)異常；少齒類(lèi)；先天性乳房發(fā)育不全；爪手；根莖;大拇指；后鼻孔閉鎖；男性睪丸激素減少;星形細(xì)胞瘤；大拇指；放射狀發(fā)育不全/發(fā)育不全；先天性卵巢發(fā)育不全；卵巢發(fā)育不全；異常形狀的椎骨;長(zhǎng)骨彎曲；花花公子沃克綜合癥；骨礦物質(zhì)密度 Z 評(píng)分降低；勃起功能障礙;手指短指骨；稀疏的體毛；生育能力下降；未能在嬰兒期茁壯成長(zhǎng)；侏儒癥；偏癱和輕偏癱；顱骨畸形；同義詞；肺癌小細(xì)胞癌；并指;呼吸窘迫；顱縫早閉；短掌骨；牙齒尺寸的牙弓長(zhǎng)度不足；腳趾并趾；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；聲音異常；寬間距乳頭；手指并指；手短；原發(fā)性生理性閉經(jīng)；男性乳房發(fā)育癥;突出的耳朵;突出的耳朵;鴨嘴獸;牙齒寬度減??；小牙癥（疾病）；小腦發(fā)育不全；牙齒變?。粌?nèi)眥贅皮；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營(yíng)養(yǎng)不良；上頜后縮;上頜骨后縮；腎積水;發(fā)育不全的腳；性腺功能減退癥孤立性低促性腺激素；低促性腺激素性腺機(jī)能減退癥;孤立個(gè)案；小睪丸； III 類(lèi)咬合不正；神經(jīng)膠質(zhì)瘤；下頜肥大;下頜骨增大；下頜骨增生;下頜過(guò)長(zhǎng)（物理發(fā)現(xiàn)）；唇裂；胼胝體發(fā)育不全；缺牙癥;房間隔缺損；短頭畸形；寬顱骨形狀；寬顱骨形狀；疝氣腹股溝；胼胝體發(fā)育不全；脫發(fā)；異常小的眼球；眼球變?。磺啻浩谘舆t；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;廣泛性骨質(zhì)減少；骨質(zhì)減少；小眼球;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??；陰莖尿道下裂;非小細(xì)胞肺癌；位置低、向后旋轉(zhuǎn)的耳朵；腦積水;言語(yǔ)和語(yǔ)言發(fā)育遲緩；語(yǔ)言延遲；語(yǔ)音延遲；言語(yǔ)障礙；焦慮;焦慮癥；鱗狀細(xì)胞癌;呼吸功能喪失；營(yíng)養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;骨齡延遲；長(zhǎng)人中；呼吸功能不全；脖子短；顱面異常；正面凸起；瞼裂向下傾斜；骨質(zhì)疏松癥； Uranostaphyloschisis;低視力;視力障礙；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;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；拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂;肺腫瘤；寬扁的鼻梁；鼻梁寬；上瞼下垂；軌道分離過(guò)度；單極抑郁癥；精神抑郁癥；隱睪;嚴(yán)重抑郁癥;斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；感音神經(jīng)性聽(tīng)力損失（障礙）；眼球震顫；未能增加體重；兒科發(fā)育不良；小頭;抑郁癥；乳腺腫瘤；躁郁癥;身材矮??；癲癇;癲癇發(fā)作；認(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;精神分裂癥

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(guò)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(lèi)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(lèi)（中文版）：

正在通過(guò)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(lèi)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）：

Palifermin (Protein tyrosine kinase activity);Sorafenib (Protein tyrosine kinase activity);SU4984 (Protein tyrosine kinase activity);XL999 (Protein tyrosine kinase activity);3-(3-methoxybenzyl)-1H-pyrrolo[2,3-b]pyridine (Protein tyrosine kinase activity);(E)-[4-(3,5-difluorophenyl)-3H-pyrrolo[2,3-b]pyridin-3-ylidene](3-methoxyphenyl)methanol (Protein tyrosine kinase activity);3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE (Protein tyrosine kinase activity);Regorafenib (Protein tyrosine kinase activity);Ponatinib (Protein tyrosine kinase activity);Lenvatinib (Protein tyrosine kinase activity);Nintedanib (Protein tyrosine kinase activity)

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）：

Palifermin（蛋白酪氨酸激酶活性）；索拉非尼（蛋白酪氨酸激酶活性）；SU4984（蛋白酪氨酸激酶活性）；XL999（蛋白酪氨酸激酶活性）；3-(3-甲氧基芐基)-1H-吡咯并[2,3-b]吡啶（蛋白質(zhì)酪氨酸激酶活性）；(E)-[4-(3,5-二氟苯基)-3H-吡咯并[2,3-b]吡啶-3-亞基](3-甲氧基苯基)甲醇（蛋白質(zhì)酪氨酸激酶活性);3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE（蛋白質(zhì)酪氨酸激酶活性）；Regorafenib（蛋白質(zhì)酪氨酸激酶活性）；Ponatinib（蛋白質(zhì)酪氨酸激酶活性） ;Lenvatinib（蛋白酪氨酸激酶活性）；Nintedanib（蛋白酪氨酸激酶活性）