Gene Page:NF1

Summary？
基因 4763
象征 NF1
Synonyms NFNS|VRNF|WSS
Description 神经纤维蛋白1
Reference MIM：613113|HGNC:HGNC:7765|Ensembl:ENSG00000196712|HPRD:01203|Vega：Otthumg00000132871
基因类型 蛋白质编码
Map location 17q11.2
Pascal p-value 0.48
胎儿β 0.312
DMG 1(# studies)
Support 结构可塑性
G2CDB.HUMANNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
毒麦l FMRP targets

Gene in Data Sources
基因集名称 Method of gene set Description 信息
CV:PGCnp Genome-wide Association Study GWAS
DMG：Wockner_2014 全基因组DNA甲基化分析 该数据集包括4641个差异甲基化探针，对应于精神分裂症患者（n = 24）和对照组（n = 24）之间的2929个独特基因。 1
PMID：cooccur High-throughput literature-search PubMed中的系统搜索与SCZ关键字共发生的基因。总共包括3027个基因。
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias 点击显示详细信息
GO_Annotation 将与神经相关的关键字映射到基因本体论注释 Hits with neuro-related keywords: 12
Network Shortest path distance of core genes in the Human protein-protein interaction network PPI网络中最短路径的贡献：0.0086

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe 染色体 位置 Nearest gene p（dis） Beta (dis) fdr（dis） 学习
cg07917842 17 29672644 NF1 1.1E-5 0.488 0.013 DMG：Wockner_2014


第二节。转录组注释

一般基因表达（GTEX）

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

时间变化的基因表达（brainspan）

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1：胎儿（13-26个概念后周），ST2：婴儿早期至童年（4个月至11年）和ST3：青春期至成年期（13-23年）
所示的栏表示表达分布的较低25％和上层25％。

大脑区域的顶级共表达基因

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
CRIP2 0.88 0.88
HTRA2 0.87 0.86
PIK3R2 0.86 0.87
C19orf22 0.86 0.87
CHMP1A 0.85 0.84
UNC119 0.85 0.85
KLHL22 0.85 0.86
ADCK2 0.85 0.84
TBCB 0.85 0.83
tor3a 0.84 0.86
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
MT-CO2 -0.71 -0.73
AF347015.33 -0.70 -0.74
AF347015.8 -0.70 -0.74
AF347015.27 -0.70 -0.74
mt-cyb -0.70 -0.74
AF347015.26 -0.68 -0.76
AF347015.31 -0.68 -0.71
AF347015.15 -0.67 -0.72
AF347015.2 -0.66 -0.72
AF347015.21 -0.63 -0.70

第三节。基因本体论注释

分子功能 去学期 证据 神经关键字 PubMed ID
去：0003674 Molecular_Function nd -
GO:0005099 Ras GTPase activator activity IDA 1568247|1570015
GO:0005096 GTPase激活剂活性 IEA -
去：0005515 蛋白质结合 IPI 11356864
生物过程 去学期 证据 神经关键字 PubMed ID
去：0007420 brain development ISS 大脑（GO期限：7） -
去：0007406 神经细胞增殖的阴性调节 ISS 神经发生（GO期限：10） -
GO:0022011 外周神经系统中的髓鞘化 ISS 神经元，轴突，树突（GO期限：14） -
GO:0048715 negative regulation of oligodendrocyte differentiation ISS 少突胶质细胞，神经胶质（GO期限：12） -
GO:0021897 前脑星形胶质细胞的发展 ISS 神经元，星形胶质细胞，大脑，神经胶质（GO期限：11） -
GO：0048485 交感神经系统发展 ISS 神经元，神经递质（GO期限：7） -
GO:0045685 神经胶质细胞分化的调节 ISS Glial (GO term level: 10) -
GO：0021510 脊髓发育 ISS 大脑（GO期限：7） -
GO:0048853 forebrain morphogenesis ISS Brain (GO term level: 9) -
GO：0043525 positive regulation of neuron apoptosis ISS 神经元（GO期限：9） -
GO:0001666 对缺氧的反应 ISS -
GO:0001656 metanephros development ISS -
GO:0001649 osteoblast differentiation ISS -
GO:0001889 liver development ISS -
GO:0001937 内皮细胞增殖的负调节 IMP 17404841
GO:0001952 regulation of cell-matrix adhesion ISS -
GO：0042992 negative regulation of transcription factor import into nucleus ISS -
GO:0007265 RAS蛋白信号转导 ISS -
GO:0007165 信号转导 IEA -
去：0008542 visual learning ISS -
GO:0008150 biological_process nd -
去：0007507 心脏发展 ISS -
去：0007422 周围神经系统发展 ISS -
GO：0014065 磷酸肌醇3-激酶级联反应 ISS -
GO:0042060 wound healing ISS -
GO:0030036 actin cytoskeleton organization ISS -
GO:0051056 regulation of small GTPase mediated signal transduction IEA -
GO：0021987 cerebral cortex development ISS -
GO:0043473 pigmentation ISS -
GO:0030199 collagen fibril organization ISS -
GO:0032320 positive regulation of Ras GTPase activity ISS -
去：0030336 细胞迁移的负调节 IMP 16648142
GO：0030325 adrenal gland development ISS -
GO：0043409 negative regulation of MAPKKK cascade ISS -
GO:0048745 smooth muscle development ISS -
GO：0043407 MAP激酶活性的负调控 ISS -
GO：0045762 腺苷酸环化酶活性的阳性调节 ISS -
GO：0045765 调节血管生成 IMP 17404841
GO:0045786 细胞周期的负调控 IEA -
GO:0045124 regulation of bone resorption ISS -
GO：0043535 regulation of blood vessel endothelial cell migration IMP 17404841
GO：0048593 摄像机型眼形形态发生 ISS -
GO：0050890 cognition IMP 17299016
GO:0048844 动脉形态发生 ISS -
Cellular component 去学期 证据 神经关键字 PubMed ID
GO：0030425 树突 IDA neuron, axon, dendrite (GO term level: 6) 1550670
GO：0030424 轴突 IDA neuron, axon, Neurotransmitter (GO term level: 6) 1550670
去：0005575 cellular_component nd -
去：0005622 细胞内 IEA -
去：0005634 nucleus ISS 1550670
去：0005737 cytoplasm ISS 1550670

Section V. Pathway annotation

路径名 路径大小 # SZGR 2.0 genes in pathway 信息
kegg mapk信号通路 267 205 All SZGR 2.0 genes in this pathway
PID HNF3B途径 45 37 All SZGR 2.0 genes in this pathway
PID ATF2 PATHWAY 59 43 All SZGR 2.0 genes in this pathway
PID Syndecan 2途径 33 27 All SZGR 2.0 genes in this pathway
PID RAS PATHWAY 30 22 All SZGR 2.0 genes in this pathway
Onken Uveal黑色素瘤 783 507 All SZGR 2.0 genes in this pathway
SOTIRIOU BREAST CANCER GRADE 1 VS 3 DN 52 34 All SZGR 2.0 genes in this pathway
Davicioni分子臂与ERMS 332 228 All SZGR 2.0 genes in this pathway
Gary CD5目标 473 314 All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL UP 133 78 All SZGR 2.0 genes in this pathway
胶原蛋白凝胶中的Oswald造血干细胞 233 161 All SZGR 2.0 genes in this pathway
HOEBEKE LYMPHOID STEM CELL UP 95 64 All SZGR 2.0 genes in this pathway
UDayakumar Med1靶向 135 82 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501 327 All SZGR 2.0 genes in this pathway
Bidus转移 214 134 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
多德鼻咽癌DN 1375 806 All SZGR 2.0 genes in this pathway
甲状腺癌的Rodrigues分化不佳的DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537 339 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G UP 238 135 All SZGR 2.0 genes in this pathway
Rodrigues NTN1和DCC目标 35 25 All SZGR 2.0 genes in this pathway
myllykangas放大热点12 11 8 All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC网络 779 480 All SZGR 2.0 genes in this pathway
CORTOIS衰老触发器 6 5 All SZGR 2.0 genes in this pathway
Shen Smarca2目标 424 268 All SZGR 2.0 genes in this pathway
TCGA GLIOBLASTOMA COPY NUMBER DN 31 21 All SZGR 2.0 genes in this pathway
DING LUNG CANCER MUTATED SIGNIFICANTLY 26 22 All SZGR 2.0 genes in this pathway
DING LUNG CANCER MUTATED FREQUENTLY 12 10 All SZGR 2.0 genes in this pathway
BYSTRYKH造血细胞和脑QTL Trans 185 114 All SZGR 2.0 genes in this pathway
PEART HDAC PROLIFERATION CLUSTER DN 76 57 All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA CD2 UP 45 32 All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412 249 All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION UP 314 201 All SZGR 2.0 genes in this pathway
罗德韦尔老化的肾脏DN 145 88 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 18HR UP 178 111 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482 296 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701 446 All SZGR 2.0 genes in this pathway
FIRESTEIN PROLIFERATION 175 125 All SZGR 2.0 genes in this pathway
格雷希克癌症复制号码 323 240 All SZGR 2.0 genes in this pathway
李肝癌的生存 185 112 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
Yoshimura MAPK8目标DN 366 257 All SZGR 2.0 genes in this pathway
Shedden肺癌良好生存A12 317 177 All SZGR 2.0 genes in this pathway
肌肉DN中的罗马胰岛素靶标 204 114 All SZGR 2.0 genes in this pathway
TCGA胶质母细胞瘤突变 8 8 All SZGR 2.0 genes in this pathway
Yagi AML带有Inv 16易位 422 277 All SZGR 2.0 genes in this pathway
马滕斯三维诺蛋白响应DN 841 431 All SZGR 2.0 genes in this pathway

第六节。microRNA注释

mirna家族 Target position miRNA ID mirna seq
UTR开始 UTR结束 匹配方法
miR-10 914 920 1A hsa-miR-10a UACCCUGUAGAUCCGAAUUUGUG
hsa-miR-10b uacccuguagaaccgaauuugu
miR-103/107 177 183 M8 hsa-miR-103brain agcagcauuguacggcuauga
hsa-miR-107brain AGCAGCAUUGUACAGGGCUAUCA
hsa-miR-103brain agcagcauuguacggcuauga
hsa-miR-107brain AGCAGCAUUGUACAGGGCUAUCA
miR-128 1195 1202 1A，M8 hsa-miR-128a ucacagugaaccggucuuuu
hsa-miR-128b ucacagugaaccggucuuc
miR-137 650 656 1A HSA-MIR-137 uauugcuuaagaauacgcguag
miR-153 2974 2980 1A HSA-MIR-153 UUGCAUAGUCACAAAAGUGA
miR-182 1733 1740 1A，M8 HSA-MIR-182 uuuggcaaugguagaacucaca
miR-27 1196 1203 1A，M8 HSA-MIR-27Abrain uucacaguggcuaaguuccgc
HSA-MIR-27Bbrain UUCACAGUGGCUAAGUUCUGC
mir-30-5p 1702 1709 1A，M8 HSA-MIR-30A-5P UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain UGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZ UGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZ uguaaacauccuaccucucagcu
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
mir-369-3p 3119 3125 M8 hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-370 3358 3365 1A，M8 HSA-MIR-370brain GCCUGCUGGGGUGGAACCUGG
miR-378 267 274 1A，M8 HSA-MIR-378 CUCCUGACUCCAGGUCCUGUGU
miR-381 3264 3270 1A HSA-MIR-381 uauacaagggcaagcucucugu
mir-448 2974 2980 1A hsa-miR-448 UUGCAUAUGUAGGAUGUCCCAU
miR-485-5p 540 546 1A hsa-miR-485-5p AGAGGCUGGCCGUGAUGAAUUC
miR-486 659 665 1A HSA-MIR-486 uccuguacugagcugcccccgag
miR-490 1435 1441 M8 HSA-MIR-490 caaccuggaggacuaugcugcug
miR-496 1645 1651 1A HSA-MIR-496 AUUACAUGGCCAAUCUC
HSA-MIR-496 AUUACAUGGCCAAUCUC
mir-543 2969 2975 1A hsa-miR-543 aaacauucgcggugcacuucu
mir-96 1734 1740 1A hsa-miR-96brain uuuggcacuagcacauuuuugc