【佳学基因检测】妇科分子病理检测能力检查中如何准备关于FGFR1的问题

基因检测的序列名称：

FGFR1

人体基因序列变化与疾病表征数据库中的基因代码：

2260

人体基因序列数据库中国际交流名称全称

fibroblast growth factor receptor 1

中国数据库中基因全称：

成纤维细胞生长因子受体1

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

该基因编码的蛋白质是成纤维细胞生长因子受体（FGFR）家族的成员，其中成员之间以及整个进化过程中氨基酸序列高度保守。FGFR家族成员的配体亲和力和组织分布彼此不同。全长代表性蛋白由细胞外区域组成，该细胞外区域由三个免疫球蛋白样结构域，单个疏水性跨膜区段和细胞质酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用，使一系列下游信号运动，贼终影响有丝分裂和分化。这个特殊的家庭成员结合酸性和碱性成纤维细胞生长因子，并参与肢体诱导。该基因的突变与Pfeiffer综合征，Jackson-Weiss综ು୔

国际国内该碱基基因序列的其他英语文字母简称：

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

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8号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：38268656；结束位置坐标为：38326352。该基因序列在GRCh38版本中的起始位置坐标为：38411138；结束位置坐标为：38468834。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

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

基因解码对该基因的功能分类：中文版

CD 标记；酶/{酶蛋白/转移酶，激酶/Tyr 蛋白激酶}；RAS 通路相关蛋白

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）：

Nucleoli

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）：

核仁

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

染色体 8p11 骨髓增殖综合征；脑颅皮肤脂肪瘤病；牙齿萌出失败；全前脑畸形、外指畸形和双侧唇腭裂；线性色素沉着；中央神经系统的脂肪瘤；腰椎半椎；多颗未萌牙；骨侏儒症；假关节; Antley-Bixler 综合征常染色体显性遗传；跟舟融合术；软骨气管;额间颅面缝早闭； JACKSON-WEISS 综合症；鼻塞（发现）；菲佛综合症； Pfeiffer 型尖头并指畸形；良性眼肿瘤未明确；双冠缝早闭；眼睛本身的皮样肉瘤；拇外翻；目前发现鼻塞；脚趾的短中间指骨；前房异常；短头畸形；加宽指骨；蛛网膜囊肿；广泛的掌骨；广泛的跖骨;麦克尔憩室；加宽跖骨轴；琴弦;三叶草颅骨形状；中间指骨不成比例地短；非中线唇裂；肘关节强直;支气管软化症；三叶草头骨；阴茎增大；毛细胞星形细胞瘤；四肢短；广泛的拇趾指骨;镜像运动障碍；肘关节桡肱关节早闭； Ramer Ladda 综合症；鼻咽异常;特发性低促性腺激素性腺功能减退症;主动脉瓣下狭窄；皮下脂肪瘤;拇指缺失或发育不全；虹膜发育不全;盆腔肾脏;三角形头型；三角头畸形；楔形头； Arnold Chiari 畸形；后鼻孔狭窄；视神经发育不良；巨细胞胶质母细胞瘤；身高异常；垂体前叶发育不全;皮质发育不良；增加女性性欲；垂体发育不全;浅轨道；锁骨异常;冠状颅缝早闭；太监惯习；肩胛骨发育不全；下丘脑促性腺激素释放激素缺乏症；外周肺动脉狭窄；角膜硬化;眼睑缺损；勃起异常；骨髓增生性疾病；短拇指；铲状手；胶质肉瘤;缺乏青春期发育；女性性腺机能减退症候群；卡尔曼综合症 2（障碍）；前垂体功能减退症;宽脚；眶上缘增生；眶上脊增生；眶上缘肥大；眶上脊肥大；耳前皮赘；突出的眶上脊；脸颊后部的皮肤标签；卡尔曼综合症；大叶全脑畸形；牙齿发育不全;先天性脑疝；先天性脐膨出；骨折易感性增加；牙齿数量减少；嗅觉受损；短跖骨;睾丸性腺功能减退症;没有第二性征；嗅觉丧失；发育不全的脚趾甲；脂肪瘤;缺失超过六颗牙齿；非阻塞性无精子症；胼胝体发育不全或缺失；婴儿子宫;轨道分离减少；继发性生理性闭经；简单的脚趾并指先进个网页空间；心血管系统形态异常；少齿类；先天性乳房发育不全；爪手；根茎;大拇指；后鼻孔闭锁；男性睾丸激素减少;星形细胞瘤；大拇指；放射状发育不全/发育不全；先天性卵巢发育不全；卵巢发育不全；异常形状的椎骨;长骨弯曲；花花公子沃克综合症；骨矿物质密度 Z 评分降低；勃起功能障碍;手指短指骨；稀疏的体毛；生育能力下降；未能在婴儿期茁壮成长；侏儒症；偏瘫和轻偏瘫；颅骨畸形；同义词；肺癌小细胞癌；并指;呼吸窘迫；颅缝早闭；短掌骨；牙齿尺寸的牙弓长度不足；脚趾并趾；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；声音异常；宽间距乳头；手指并指；手短；原发性生理性闭经；男性乳房发育症;突出的耳朵;突出的耳朵;鸭嘴兽;牙齿宽度减小；小牙症（疾病）；小脑发育不全；牙齿变小；内眦赘皮；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；肾积水;发育不全的脚；性腺功能减退症孤立性低促性腺激素；低促性腺激素性腺机能减退症;孤立个案；小睾丸； III 类咬合不正；神经胶质瘤；下颌肥大;下颌骨增大；下颌骨增生;下颌过长（物理发现）；唇裂；胼胝体发育不全；缺牙症;房间隔缺损；短头畸形；宽颅骨形状；宽颅骨形状；疝气腹股沟；胼胝体发育不全；脱发；异常小的眼球；眼球变小；青春期延迟；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;广泛性骨质减少；骨质减少；小眼球;高额头;额头高；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；阴茎尿道下裂;非小细胞肺癌；位置低、向后旋转的耳朵；脑积水;言语和语言发育迟缓；语言延迟；语音延迟；言语障碍；焦虑;焦虑症；鳞状细胞癌;呼吸功能丧失；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;骨龄延迟；长人中；呼吸功能不全；脖子短；颅面异常；正面凸起；睑裂向下倾斜；骨质疏松症； Uranostaphyloschisis;低视力;视力障碍；婴儿小于胎龄儿；宫内发育迟缓;先天性阴茎发育不全；低位耳朵；胎儿生长迟缓；鼻孔前倾；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂;肺肿瘤；宽扁的鼻梁；鼻梁宽；上睑下垂；轨道分离过度；单极抑郁症；精神抑郁症；隐睾;严重抑郁症;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；感音神经性听力损失（障碍）；眼球震颤；未能增加体重；儿科发育不良；小头;抑郁症；乳腺肿瘤；躁郁症;身材矮小；癫痫;癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;精神分裂症

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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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）：

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)

针对该基因所产生的突变，可能有正确效果的药物（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-甲氧基苄基)-1H-吡咯并[2,3-b]吡啶（蛋白质酪氨酸激酶活性）；(E)-[4-(3,5-二氟苯基)-3H-吡咯并[2,3-b]吡啶-3-亚基](3-甲氧基苯基)甲醇（蛋白质酪氨酸激酶活性);3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE（蛋白质酪氨酸激酶活性）；Regorafenib（蛋白质酪氨酸激酶活性）；Ponatinib（蛋白质酪氨酸激酶活性） ;Lenvatinib（蛋白酪氨酸激酶活性）；Nintedanib（蛋白酪氨酸激酶活性）