基因页：OTX2

概括?
GeneID 5015
Symbol OTX2
同义词 CPHD6|MCOPS5
描述 orthodenticle homeobox 2
参考 MIM:600037|HGNC:HGNC:8522|HPRD:07190|
Gene type protein-coding
地图位置 14q22.3
Pascal P值 0.086
Fetal beta -0.131
DMG 2 (# studies)
eGene 迈尔斯的顺式和跨性别

数据源中的基因
Gene set name 基因组方法 描述 Info
简历：PGCNP Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 3
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 3
PMID:cooccur 高通量文献搜索 系统search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
文学 高通量文献搜索 与精神分裂症关键词共同存在：精神分裂症，精神分裂症 Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 6

第一节遗传学和表观遗传学注释

@Differentially methylated gene

探测 Chromosome Position Nearest gene P (dis) beta（dis） FDR (dis) Study
CG23316987 14 57272594 OTX2 3.69E-6 -0.484 0.009 DMG:Wockner_2014
CG24748769 14 57271015 OTX2 1.636E-4 -0.359 0.033 DMG:Wockner_2014
CG13411015 14 57274900 OTX2 1.66E-8 -0.023 6.1E-6 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID PVALUE qvalue TSS distance eQTL type
rs17091014 chr14 56562713 OTX2 5015 0.05 cis
rs512189 chr1 182632586 OTX2 5015 0.12 trans
rs6666913 chr1 237092144 OTX2 5015 0 trans
RS16865199 chr2 6621910 OTX2 5015 0.13 trans
rs16865228 chr2 6629622 OTX2 5015 0.1 trans
rs16865230 chr2 6630187 OTX2 5015 0.1 trans
rs11691188 chr2 6631799 OTX2 5015 0.1 trans
rs13403353 chr2 144067716 OTX2 5015 0.18 trans
rs7609917 chr3 76094301 OTX2 5015 0.01 trans
rs2324466 chr3 76100753 OTX2 5015 8.178E-5 trans
rs17013713 chr3 76105150 OTX2 5015 4.865e-5 trans
RS17013722 chr3 76107656 OTX2 5015 8.178E-5 trans
RS17013724 chr3 76107684 OTX2 5015 8.178E-5 trans
RS179852 chr3 172328734 OTX2 5015 0.06 trans
rs16831155 chr3 173574763 OTX2 5015 0.11 trans
rs10015205 chr4 26144278 OTX2 5015 0.1 trans
rs11734196 chr4 102796071 OTX2 5015 0.03 trans
RS10212684 chr4 102822506 OTX2 5015 0.01 trans
rs11937178 chr4 148847598 OTX2 5015 0.04 trans
RS11934409 chr4 148848884 OTX2 5015 0.04 trans
RS9986296 chr5 3199318 OTX2 5015 7.317E-4 trans
rs17502163 chr5 120026331 OTX2 5015 0.09 trans
rs2895773 chr5 148114635 OTX2 5015 0.14 trans
rs10059267 chr5 168676624 OTX2 5015 0.13 trans
rs10078402 chr5 168678851 OTX2 5015 0.13 trans
rs7740062 chr6 27705597 OTX2 5015 0.13 trans
rs200470 chr6 27762186 OTX2 5015 0.05 trans
rs201005 chr6 27804159 OTX2 5015 0.1 trans
rs200955 chr6 27839311 OTX2 5015 0.13 trans
rs200959 chr6 27842046 OTX2 5015 0.13 trans
rs839777 chr6 27909656 OTX2 5015 0.11 trans
rs149898 chr6 27958071 OTX2 5015 0.11 trans
RS156742 chr6 27963191 OTX2 5015 0.11 trans
rs175955 chr6 28059733 OTX2 5015 0.11 trans
RS1225593 chr6 28150518 OTX2 5015 0.11 trans
rs195749 chr6 37253745 OTX2 5015 0.01 trans
RS16896683 chr6 43687846 OTX2 5015 0.15 trans
rs17073406 chr6 144447390 OTX2 5015 0.06 trans
RS992435 chr7 97050802 OTX2 5015 0.11 trans
rs1017329 chr8 40281396 OTX2 5015 0.13 trans
rs16920368 chr8 55392852 OTX2 5015 0.01 trans
rs16927318 chr8 62365911 OTX2 5015 0.07 trans
rs348150 chr8 73371619 OTX2 5015 0.1 trans
rs16938220 chr8 73377940 OTX2 5015 0.09 trans
rs4734607 chr8 102991441 OTX2 5015 0.07 trans
rs4545144 chr8 139689307 OTX2 5015 0.13 trans
RS4742740 chr9 101524552 OTX2 5015 0.15 trans
rs2069410 chr12 56364644 OTX2 5015 3.293E-6 trans
rs11105124 chr12 89375908 OTX2 5015 0.16 trans
RS9670212 chr13 29070572 OTX2 5015 0.05 trans
rs17834315 chr13 37991091 OTX2 5015 5.564E-4 trans
rs11841288 chr13 60215833 OTX2 5015 0.09 trans
RS16946913 chr15 63653889 OTX2 5015 0.09 trans
rs7174517 chr15 87256320 OTX2 5015 0.15 trans
rs17694187 chr15 91881259 OTX2 5015 0.13 trans
rs17142983 chr16 7294508 OTX2 5015 0 trans
RS8056710 chr16 7447629 OTX2 5015 0.13 trans
RS6499075 chr16 66387395 OTX2 5015 0.01 trans
rs17736134 chr18 70665805 OTX2 5015 0.06 trans
RS2469060 chr18 70673106 OTX2 5015 0.06 trans
RS2469009 chr18 70713334 OTX2 5015 0.09 trans
rs409642 chr20 54250273 OTX2 5015 0.02 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

无法使用

Gene expression during devlopment (BrainCloud)

脚注：
总共绘制了269个时间点，n = 38个胎儿样品（x = 1：38）。每个三角形代表一个时间点。

Gene expression of temporal and spatial changes (BrainSpan)

脚注：
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

大脑区域没有共表达基因


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
去：0003700 转录因子活性 NAS -
GO:0005515 protein binding IEA -
去：0008190 eukaryotic initiation factor 4E binding 塔斯 15705863
GO：0043565 序列特异性DNA结合 IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0007417 中枢神经系统发展 IEA Brain (GO term level: 6) -
GO:0007411 axon guidance IDA Axon（GO期限：13） 16267555
GO：0048663 神经元的命运承诺 IEA neuron (GO term level: 9) -
去：0030901 midbrain development 塔斯 大脑（GO期限：8） 15705863
去：0030900 forebrain development 塔斯 大脑（GO期限：8） 15705863
GO:0001708 cell fate specification IEA -
GO:0009953 dorsal/ventral pattern formation IEA -
GO:0009952 前/后模式形成 IEA -
GO:0009887 organ morphogenesis IEA -
GO:0008589 regulation of smoothened signaling pathway 塔斯 15705863
去：0007275 多细胞生物发育 IEA -
GO：0042472 inner ear morphogenesis IEA -
GO:0042706 eye photoreceptor cell fate commitment IEA -
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway 塔斯 15705863
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA -
细胞分量 去的术语 Evidence Neuro keywords PubMed ID
GO:0030426 growth cone IDA Axon，Dendrite（GO期限：5） 16267555
GO:0005634 核 IEA -
GO:0005737 细胞质 IEA -

V.途径注释

Pathway name Pathway size ＃szgr 2.0基因 Info
Sengupta鼻咽癌，LMP1 UP 408 247 该途径中的所有SZGR 2.0基因
EWSR1 FLII融合的Kinsey目标 1278 748 该途径中的所有SZGR 2.0基因
korkola蛋黄囊肿瘤 62 33 该途径中的所有SZGR 2.0基因
BENPORATH SUZ12 TARGETS 1038 678 该途径中的所有SZGR 2.0基因
BENPORATH EED TARGETS 1062 725 该途径中的所有SZGR 2.0基因
与H3K27me3的Benporath ES 1118 744 该途径中的所有SZGR 2.0基因
BENPORATH PRC2 TARGETS 652 441 该途径中的所有SZGR 2.0基因
SHEPARD CRUSH AND BURN MUTANT DN 185 111 该途径中的所有SZGR 2.0基因
lein脉络丛标记 103 61 该途径中的所有SZGR 2.0基因
ZHENG GLIOBLASTOMA PLASTICITY UP 250 168 该途径中的所有SZGR 2.0基因
MUELLER PLURINET 299 189 该途径中的所有SZGR 2.0基因
SASAI TARGETS OF CXCR6 AND PTCH1 UP 13 9 该途径中的所有SZGR 2.0基因
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069 729 该途径中的所有SZGR 2.0基因
黄胚胎干细胞核心 335 193 该途径中的所有SZGR 2.0基因
PASINI SUZ12 TARGETS UP 112 65 该途径中的所有SZGR 2.0基因
Rao由Sall4绑定 227 149 该途径中的所有SZGR 2.0基因
Zwang 1类由EGF瞬时诱导 516 308 该途径中的所有SZGR 2.0基因

Section VI. microRNA annotation

miRNA family 目标位置 mirna id miRNA seq
UTR start UTR end Match method
miR-1/206 51 58 1A,m8 HSA-MIR-1 Uggaauguaaagaaguaugua
HSA-MIR-206SZ UGGAAUGUAAGGAAGUGUGUGG
HSA-MIR-613 aggaauguucuuugcc
mir-128 621 627 1A HSA-MIR-128A UCACAGUGAACCGGUCUCUUUU
HSA-MIR-128B UCACAGUGAACCGGUCUCUUUC
miR-130/301 503 509 1A HSA-MIR-130A脑 CAGUGCAAUGUUAAAAGGGCAU
HSA-MIR-301 CAGUGCAAUAGUAUUGUCAAAGC
HSA-MIR-130b脑 CAGUGCAAUGAUGAAAGGGCAU
HSA-MIR-454-3P uagugcaauauugcuuauaggguuu
mir-138 171 177 1A HSA-MIR-138脑 Agcugguuguguugaauc
mir-142-5p 509 515 m8 HSA-MIR-142-5p CAUAAAGUAGAAAGCACUAC
miR-148/152 450 456 1A HSA-MIR-148a UCAGUGCACUACAGAACUUUGU
HSA-MIR-152脑 UCAGUGCAUGACAGAACUUGGG
HSA-MIR-148b UCAGUGCAUCACAGAACUUUGU
mir-153 641 647 1A HSA-MIR-153 Uugcauagucacaaaaguga
miR-219 558 565 1A,m8 HSA-MIR-219脑 ugauuguccaaacgcaauucu
mir-27 621 627 m8 hsa-miR-27a脑 UUCACAGUGGCUAAGUUCCGC
hsa-miR-27b脑 UUCACAGUGGCUAAGUUCUGC
miR-30-3p 452 459 1A,m8 hsa-miR-30a-3p cuuucagucggauguugcagc
hsa-miR-30e-3p CUUUCAGUCGGAUGUUUACAGC
mir-374 697 703 1A hsa-miR-374 UUAUAAUACAACCUGAUAAGUG
miR-410 955 962 1A,m8 HSA-MIR-410 AAUAUAACACAGAUGGCCUGU
miR-448 641 647 1A HSA-MIR-448 uugcauauguaggauguccccau
HSA-MIR-448 uugcauauguaggauguccccau