Gene Page:NRXN1

Summary？
基因 9378
象征 NRXN1
Synonyms HS.22998 | PTHSL2 | SCZD17
Description 神经1
参考erence MIM：600565|HGNC：HGNC：8008|Ensembl：ENSG00000179915|HPRD:11858|Vega：Otthumg00000129263
基因类型 蛋白质编码
Map location 2P16.3
Sherlock p-value 0.535
tADA p-value 0.025
胎儿β 1.407
DMG 1(# studies)
主持人 Myers' cis & trans
Support CELL ADHESION AND TRANSSYNAPTIC SIGNALING
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
潜在的突触基因

Gene in Data Sources
基因集名称 Method of gene set Description 信息
CNV:YES Copy number variation studies Manual curation
CV:GWASdb Genome-wide Association Studies 精神分裂症的GWASDB记录
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
DNM：Awadalla_2010 Whole Exome Sequencing analysis A survey of ~430 Mb of DNA from 401 synapse-expressed genes across all cases and 25 Mb of DNA in controls found 28 candidate DNMs.
DNM:Fromer_2014 Whole Exome Sequencing analysis 这项研究报道了WES对623个精神分裂症三重奏的研究，该研究使用基因组DNA报告了DNM。
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 与精神分裂症关键词共同存在：精神分裂症，精神分裂症，精神分裂症 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 与神经相关的关键字的命中：1

Section I. Genetics and epigenetics annotation

@DNM表

Gene 染色体 位置 参考 alt 成绩单 AA change Mutation type 筛 CG46 特征 学习
NRXN1 CHR2 50724807 t C NM_001135659
NM_004801		 p.888E>G
p.848e> g		 missense
missense		 Schizophrenia DNM:Fromer_2014
NRXN1 CHR2 50149317 - ACGG NRXN1:NM_138735:exon6:c.1093_1094insCCGT:p.T365fs
NRXN1：NM_004801：Exon22：C.4198_4199INSCCGT：P.T1400FS
NRXN1：NM_001135659：Exon24：C.4408_4409INSCCGT：P.T1470FS		 G1402DfsX29 frameshift insertion Schizophrenia DNM：Awadalla_2010

@Differentially methylated gene

Probe 染色体 位置 Nearest gene p（dis） Beta (dis) fdr（dis） 学习
cg22324022 2 51259703 NRXN1 2.157E-4 0.325 0.036 DMG：Wockner_2014

@eQTL annotation

SNP ID 染色体 位置 主持人 Gene Entrez ID pvalue QVALUE TSS距离 EQTL类型
RS5909851 Chrx 121070531 NRXN1 9378 0.06 反式

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
死神:胎儿(13 - 26 postconception周),ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
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
PSMA1 0.90 0.87
MRPS35 0.89 0.85
OLA1 0.88 0.86
ORC5L 0.87 0.85
STRAP 0.87 0.84
COPS3 0.86 0.82
SKP1 0.86 0.84
COPS4 0.86 0.85
AZI2 0.85 0.83
PMPCB 0.85 0.80
top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AF347015.2 -0.69 -0.59
AF347015.26 -0.68 -0.60
AF347015.8 -0.67 -0.57
AF347015.15 -0.65 -0.56
mt-cyb -0.65 -0.56
MT-CO2 -0.65 -0.54
AF347015.18 -0.64 -0.63
AF347015.33 -0.64 -0.56
AF347015.31 -0.60 -0.52
AF347015.27 -0.60 -0.53

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
GO:0004872 receptor activity tAS 1621094
去：0005509 calcium ion binding IEA -
去：0005515 蛋白质结合 IEA -
去：0005515 蛋白质结合 IPI 11152476
生物过程 去学期 证据 神经关键字 PubMed ID
去：0007411 轴突指导 tAS axon (GO term level: 13) 1621094
GO:0007155 cell adhesion IEA -
Cellular component 去学期 证据 神经关键字 PubMed ID
去：0016020 membrane IEA -
GO：0016021 膜不可或缺 IEA -
去：0005887 integral to plasma membrane tAS 1621094

Section IV. Protein-protein interaction annotation

互动者 别名b 官方全名b 实验 Source PubMed ID
APBA1 D9S411E |mint1 |x11 |x11a |x11alpha amyloid beta (A4) precursor protein-binding, family A, member 1 - HPRD,BioGRID 11036064
APBA2 D15S1518E |HST16821 |lin-10 |MGC99508 |MGC：14091 |mint2 |x11l amyloid beta (A4) precursor protein-binding, family A, member 2 - HPRD,BioGRID 11036064
CASK CAGH39 |CMG |FLJ22219 |FLJ31914 |lin2 |Micpch |TNRC8 calcium/calmodulin-dependent serine protein kinase (MAGUK family) - HPRD,BioGRID 11036064
CASK CAGH39 |CMG |FLJ22219 |FLJ31914 |lin2 |Micpch |TNRC8 calcium/calmodulin-dependent serine protein kinase (MAGUK family) - HPRD 8786425
MACF1 ABP620 |ACF7 |FLJ45612 |FLJ46776 |KIAA0465 |KIAA1251 |MACF |OFC4 微管 - 肌动交联因子1 - HPRD 12421765
mllt4 AF-6 |AF6 |Afadin |FLJ34371 |RP3-431P23.3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 two-hybrid Biogrid 9707552
myo16 KIAA0865 | MYR8 | Myo16b myosin XVI - HPRD 12421765
NLGN1 KIAA1070 |MGC45115 神经素1 - HPRD,BioGRID 8576240|14522992
NLGN2 KIAA1366 神经素2 - HPRD,BioGRID 8576240
NLGN3 ASPGX1 | AUTSX1 | HNL3 | KIAA1480 神经素3 - HPRD 8576240|9325340
NLGN3 ASPGX1 | AUTSX1 | HNL3 | KIAA1480 神经素3 - HPRD,BioGRID 8576240
NXPH1 NPH1 | Nbla00697 神经蛋白1 - HPRD 8699246
NXPH1 NPH1 | Nbla00697 神经蛋白1 - HPRD 9856994
NXPH2 MGC125477 |MGC125478 |MGC125479 |MGC125480 |NPH2 神经蛋白2 - HPRD 8699246
NXPH3 NPH3 神经蛋白3 - HPRD 9856994
PDZD2 AIPC | KIAA0300 | PAPIN | PDZK3 | PIN1 PDZ域包含2 - HPRD 12421765
rph3a KIAA0985 rabphilin 3A homolog (mouse) - HPRD 8901523
SDCBP MDA-9 | ST1 | SYCL | TACIP18 联合结合蛋白（同步） Neurexin I-alpha interacts with ST-1. This interaction was modelled on a demonstrated interaction between human neurexin I-alpha and rat ST-1. 绑定 11152476
SDCBP2 FLJ12256 |Sitac18 |ST-2 联合结合蛋白（同步）2 - HPRD 11152476
SIPA1L1 DKFZp686G1344 | E6TP1 | KIAA0440 signal-induced proliferation-associated 1 like 1 - HPRD 12421765
Syt1 DKFZP781D2042 |p65 |SVP65 |Syt synaptotagmin I - HPRD 8901523|11243866
SYT13 KIAA1427 synaptotagmin XIII - HPRD,BioGRID 11171101
Syt2 Sytii synaptotagmin II - HPRD 8901523
Syt4 HST1192 |KIAA1342 synaptotagmin IV - HPRD 8901523
Syt5 - synaptotagmin V - HPRD 8901523
Syt6 - synaptotagmin VI - HPRD 8901523
Syt7 IPCA-7 | MGC150517 | PCANAP7 | SYT-VII Synaptotagmin VII - HPRD 8901523
Syt9 FLJ45896 synaptotagmin IX - HPRD 8901523
SYTL1 FLJ14996 |JFC1 |SLP1 synaptotagmin-like 1 - HPRD 11243866
SYTL2 Chr11syt |KIAA1597 |MGC102768 |SGA72M |SLP2 synaptotagmin-like 2 - HPRD 11243866
SYTL3 MGC105130 |MGC118883 |MGC118884 |MGC118885 |SLP3 synaptotagmin-like 3 - HPRD 11243866


Section V. Pathway annotation

路径名 路径大小 # SZGR 2.0 genes in pathway 信息
kegg细胞粘附分子凸轮 134 93 All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408 247 All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL UP 146 99 All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA DN 291 176 All SZGR 2.0 genes in this pathway
多德鼻咽癌DN 1375 806 All SZGR 2.0 genes in this pathway
Gaussmann MLL AF4融合靶标为B 26 16 All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118 744 All SZGR 2.0 genes in this pathway
LU AGING BRAIN DN 153 120 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
伊万诺娃造血干细胞 254 164 All SZGR 2.0 genes in this pathway
Nielsen Schwannoma Up 18 16 All SZGR 2.0 genes in this pathway
海勒被甲基化沉默 282 183 All SZGR 2.0 genes in this pathway
Heller HDAC靶向被甲基化的沉默 461 298 All SZGR 2.0 genes in this pathway
Smid乳腺癌正常 476 285 All SZGR 2.0 genes in this pathway
西肾上腺皮质肿瘤DN 546 362 All SZGR 2.0 genes in this pathway
Mikkelsen ES ICP与H3K4Me3 718 401 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC ICP WITH H3K4ME3 445 257 All SZGR 2.0 genes in this pathway
Kim所有疾病Calb1 Corr Up 548 370 All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA PRONEURAL 177 132 All SZGR 2.0 genes in this pathway
Hoelzel NF1靶向 139 93 All SZGR 2.0 genes in this pathway
Bruins通过TP53组B响应UVC响应 549 316 All SZGR 2.0 genes in this pathway
Zwang仅通过第二EGF脉冲瞬时向上 1725 838 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

mirna家族 target position miRNA ID mirna seq
UTR开始 UTR结束 匹配方法
miR-103/107 1528 1534 1A hsa-miR-103brain agcagcauuguacggcuauga
hsa-miR-107brain AGCAGCAUUGUACAGGGCUAUCA
miR-128 779 785 1A hsa-miR-128a ucacagugaaccggucuuuu
hsa-miR-128b ucacagugaaccggucuuc
miR-129-5p 188 194 1A HSA-MIR-129brain cuuuuugcgguggggcuugc
HSA-MIR-129-5p cuuuuugcgguggggcuugcu
HSA-MIR-129brain cuuuuugcgguggggcuugc
HSA-MIR-129-5p cuuuuugcgguggggcuugcu
miR-141/200a 230 236 M8 HSA-MIR-141 uaacacugucugugugugugaugg
hsa-miR-200a UAACACUGUCUGGUAACGAUGU
miR-181 1022 1029 1A，M8 HSA-MIR-181Abrain AACAUUCAACGCUGUCGGUGAGU
HSA-MIR-181BSZ AACAUUCAUUGCUGUCGGUGGG
HSA-MIR-181Cbrain AACAUUCAACCUGUCGGUGAGU
HSA-MIR-181Dbrain AACAUUCAUUGUUGUCGGUGGGUU
miR-196 377 383 1A HSA-MIR-196A uagguaguucauguugugug
HSA-MIR-196B UAGGUAGUUUCCUGUUGUUGG
mir-218 88 94 M8 hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-23 636 643 1A，M8 HSA-MIR-23Abrain AUCACAUUGCCAGGGAUUUCC
HSA-MIR-23Bbrain AUCACAUUGCCAGGGAUUACC
miR-27 779 785 M8 HSA-MIR-27Abrain uucacaguggcuaaguuccgc
HSA-MIR-27Bbrain UUCACAGUGGCUAAGUUCUGC
mir-323 636 642 1A hsa-miR-323brain gcacauuacggucgaccucu
mir-326 438 444 1A hsa-miR-326 CCUCUGGGCCCUUCCUCCAG
mir-328 205 211 1A hsa-miR-328brain cuggcccucugccuuccgu
miR-33 817 823 1A hsa-miR-33 Gugcauuguuguugcauug
hsa-miR-33b GUGCAUUGCUGUUGCAUUGCA
mir-335 163 169 M8 hsa-miR-335brain UCAAGAGCAAUAACGAAAAAUGU
mir-339 105 112 1A，M8 hsa-miR-339 ucccuccuccaggagcuca
miR-377 1111 1117 1A HSA-MIR-377 aucacacaaaggaacuuuuugu
miR-381 22 29 1A，M8 HSA-MIR-381 uauacaagggcaagcucucugu
HSA-MIR-381 uauacaagggcaagcucucugu
mir-410 747 753 1A hsa-miR-410 aauauaacacagauggcugu
mir-455 90 96 1A hsa-miR-455 UAUGUGCCUUUGGACUACAUCG
miR-485-3p 1018 1025 1A，M8 hsa-miR-485-3p gucauacgggcucucucucucucu
hsa-miR-485-3p gucauacgggcucucucucucucu
mir-96 1326 1332 M8 hsa-miR-96brain uuuggcacuagcacauuuuugc