基因页：PAX6
概括?
| GeneID | 5080 |
| Symbol | PAX6 |
| 同义词 | AN|AN2|D11S812E|FVH1|MGDA|WAGR |
| 描述 | 配对框6 |
| 参考 | MIM：607108|HGNC：HGNC：8620|ENSEMBL：ENSG00000007372|HPRD：06167| |
| Gene type | protein-coding |
| 地图位置 | 11P13 |
| Pascal P值 | 0.048 |
| Sherlock P值 | 0.382 |
| Fetal beta | 1.225 |
| DMG | 2（＃研究） |
| eGene | Nucleus accumbens basal ganglia 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 | 全基因组协会研究 | 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 | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
| 协会 | 组合的优势比方法（Sun et al. 2008），协会研究 | 1 | 链接到Szgene |
| 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: 1 |
第一节遗传学和表观遗传学注释
差异甲基化基因
差异甲基化基因| 探测 | Chromosome | Position | 最近的基因 | P (dis) | beta（dis） | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| CG15778437 | 11 | 31839521 | PAX6 | 2.04E-5 | -0.414 | 0.016 | DMG:Wockner_2014 |
| CG17280740 | 11 | 31840862 | PAX6 | 5.882e-4 | 0.326 | 0.05 | DMG:Wockner_2014 |
| CG13023210 | 11 | 31821452 | PAX6 | 5.84E-9 | -0.026 | 3.16E-6 | DMG:Jaffe_2016 |
EQTL注释
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | PVALUE | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs17392743 | chr1 | 54764240 | PAX6 | 5080 | 0.04 | trans | ||
| RS2502827 | chr1 | 176044216 | PAX6 | 5080 | 0.09 | trans | ||
| rs17572651 | chr1 | 218943612 | PAX6 | 5080 | 0 | trans | ||
| rs16829545 | chr2 | 151977407 | PAX6 | 5080 | 1.783E-10 | trans | ||
| RS3845734 | chr2 | 171125572 | PAX6 | 5080 | 0 | trans | ||
| rs1967327 | chr2 | 179314358 | PAX6 | 5080 | 0.19 | trans | ||
| rs7584986 | chr2 | 184111432 | PAX6 | 5080 | 5.069e-8 | trans | ||
| rs17762315 | chr5 | 76807576 | PAX6 | 5080 | 0.03 | trans | ||
| rs7729096 | chr5 | 76835927 | PAX6 | 5080 | 0.16 | trans | ||
| RS2393316 | chr10 | 59333070 | PAX6 | 5080 | 0.05 | trans | ||
| rs17104720 | chr14 | 77127308 | PAX6 | 5080 | 0.03 | trans | ||
| RS16955618 | CHR15 | 29937543 | PAX6 | 5080 | 1.26e-19 | trans | ||
| rs1041786 | chr21 | 22617710 | PAX6 | 5080 | 0.04 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Devlopment期间的基因表达（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：亚皮质区域；SM：感觉运动区域；FC：额叶皮层；和TP：颞顶皮层
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 | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| 去：0003700 | 转录因子活性 | 塔斯 | 10441571|10747901 | |
| GO:0005515 | protein binding | IPI | 16098226 | |
| GO：0043565 | 序列特异性DNA结合 | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0007417 | 中枢神经系统发展 | 塔斯 | Brain (GO term level: 6) | 10747901 |
| 去：0001654 | eye development | 塔斯 | 10747901 | |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA | - | |
| GO:0009887 | 器官形态发生 | 塔斯 | 10441571 | |
| GO:0007601 | 视觉感知 | 塔斯 | 10441571 | |
| 去：0007275 | 多细胞生物发育 | IEA | - | |
| 去：0030154 | cell differentiation | IEA | - | |
| 细胞分量 | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005634 | 核 | IEA | - |
第四节。蛋白质蛋白相互作用注释
| Interactors | Aliases B | Official full name B | Experimental | 资源 | PubMed ID |
|---|---|---|---|---|---|
| CDX2 | CDX-3 |CDX3 | 尾型同源2 | - | HPRD，Biogrid | 10506141 |
| EN1 | - | engrailed homeobox 1 | Reconstituted Complex | BioGRID | 11069920 |
| EP300 | KAT3B | p300 | E1a结合蛋白p300 | Affinity Capture-Western Reconstituted Complex |
BioGRID | 10506141 |
| HOXB1 | HOX2 | HOX2I | Hox-2.9 | MGC116843 | MGC116844 | MGC116845 | homeobox B1 | - | HPRD，Biogrid | 11069920 |
| HOXB1 | HOX2 | HOX2I | Hox-2.9 | MGC116843 | MGC116844 | MGC116845 | homeobox B1 | Pax6 interacts with HoxB1. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1. | BIND | 11069920 |
| IPO13 | imp13 |kap13 |KIAA0724 |RANBP13 | Importin 13 | Kap13 interacts with Pax6. | BIND | 15143176 |
| IPO13 | imp13 |kap13 |KIAA0724 |RANBP13 | Importin 13 | Affinity Capture-Western Reconstituted Complex 两个杂交 |
BioGRID | 15143176|16189514 |
| LHX2 | LH2 |MGC138390 |HLHX2 | Lim Homeobox 2 | Reconstituted Complex | BioGRID | 11069920 |
| MAFG | MGC13090 | MGC20149 | V-MAF Musculoaponeurototot纤维肉瘤癌基因同源物G（Avian） | - | HPRD，Biogrid | 11036080 |
| MITF | MI | WS2A | bHLHe32 | microphthalmia-associated transcription factor | - | HPRD，Biogrid | 11350962 |
| PAX6 | AN | AN2 | D11S812E | MGC17209 | MGDA | WAGR | 配对框6 | Affinity Capture-Western Reconstituted Complex |
BioGRID | 11069920 |
| PBX1 | DKFZP686B09108 |MGC126627 | pre-B-cell leukemia homeobox 1 | Pax6 interacts with Pbx1. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human Pbx1. | BIND | 11069920 |
| PKNOX1 | PREP1 | pkonx1c | PBX/knotted 1 homeobox 1 | Reconstituted Complex | BioGRID | 11069920 |
| Prox1 | - | prospero homeobox 1 | Reconstituted Complex | BioGRID | 11069920 |
| RAX | MCOP3 |rx | 视网膜和前神经褶皱同源 | - | HPRD，Biogrid | 11069920 |
| RB1 | OSRC | RB | p105-Rb | pRb | pp110 | 视网膜细胞瘤1 | Reconstituted Complex | BioGRID | 10359315 |
| 六 | HPE2 | 六个同型3 | - | HPRD，Biogrid | 11069920 |
| SOX2 | ANOP3 | MCOPS3 | MGC2413 | sry（性别确定区域y）-box 2 | - | HPRD，Biogrid | 11358870|12710953 |12923055 |
| SOX3 | GHDX |先生|php |phpx |Soxb | sry（性别确定区域y） - 盒3 | - | HPRD | 12710953 |
| TAF1 | Ba2r |CCG1 |CCGS |dyt3 |kat4 |N-TAF1 |NSCL2 ||P250 |taf2a | TAFII250 | TAF1RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa | Affinity Capture-Western | BioGRID | 10359315 |
| TBP | GTF2D | GTF2D1 | MGC117320 | MGC126054 | MGC126055 | SCA17 | TFIID | TATA box binding protein | - | HPRD，Biogrid | 10359315 |
| VSX2 | CHX10 | HOX10 | MCOP2 | MCOPCB3 | RET1 | visual system homeobox 2 | Reconstituted Complex | BioGRID | 11069920 |
V.途径注释
| Pathway name | Pathway size | ＃szgr 2.0基因 | Info |
|---|---|---|---|
| KEGG MATURITY ONSET DIABETES OF THE YOUNG | 25 | 19 | 该途径中的所有SZGR 2.0基因 |
| PID CDC42 PATHWAY | 70 | 51 | 该途径中的所有SZGR 2.0基因 |
| Reactome发育生物学 | 396 | 292 | 该途径中的所有SZGR 2.0基因 |
| β细胞开发的反应组调节 | 30 | 23 | 该途径中的所有SZGR 2.0基因 |
| 反应组调节β细胞中基因表达 | 20 | 15 | 该途径中的所有SZGR 2.0基因 |
| REACTOME INTEGRATION OF ENERGY METABOLISM | 120 | 84 | 该途径中的所有SZGR 2.0基因 |
| 胰岛素分泌的反应组调节 | 93 | 65 | 该途径中的所有SZGR 2.0基因 |
| REACTOME SYNTHESIS SECRETION AND INACTIVATION OF GIP | 14 | 8 | 该途径中的所有SZGR 2.0基因 |
| Reactome泌尿素合成分泌和失活 | 22 | 14 | 该途径中的所有SZGR 2.0基因 |
| Reactome合成分泌和GLP1的失活 | 19 | 12 | 该途径中的所有SZGR 2.0基因 |
| DOANE BREAST CANCER ESR1 DN | 48 | 28 | 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 |
| YEMELYANOV GR TARGETS DN | 10 | 8 | 该途径中的所有SZGR 2.0基因 |
| Gruetzmann胰腺癌DN | 203 | 134 | 该途径中的所有SZGR 2.0基因 |
| SCHLESINGER METHYLATED DE NOVO IN CANCER | 88 | 64 | 该途径中的所有SZGR 2.0基因 |
| KOYAMA SEMA3B TARGETS UP | 292 | 168 | 该途径中的所有SZGR 2.0基因 |
| Benporath Suz12目标 | 1038 | 678 | 该途径中的所有SZGR 2.0基因 |
| Benporath EED目标 | 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目标 | 652 | 441 | 该途径中的所有SZGR 2.0基因 |
| Benporath ES核心九相关 | 100 | 68 | 该途径中的所有SZGR 2.0基因 |
| TESAR ALK TARGETS HUMAN ES 5D UP | 5 | 5 | 该途径中的所有SZGR 2.0基因 |
| TARTE PLASMA CELL VS PLASMABLAST UP | 398 | 262 | 该途径中的所有SZGR 2.0基因 |
| 结肠癌中的韦伯甲基化 | 18 | 13 | 该途径中的所有SZGR 2.0基因 |
| 在胰腺癌中被甲基化沉默的Sato 2 | 50 | 34 | 该途径中的所有SZGR 2.0基因 |
| BLALOCK ALZHEIMERS DISEASE UP | 1691年 | 1088 | 该途径中的所有SZGR 2.0基因 |
| SATO SILENCED EPIGENETICALLY IN PANCREATIC CANCER | 49 | 30 | 该途径中的所有SZGR 2.0基因 |
| 在胰腺癌中被甲基化沉默的Sato 1 | 419 | 273 | 该途径中的所有SZGR 2.0基因 |
| TESAR ALK TARGETS EPISC 4D UP | 7 | 6 | 该途径中的所有SZGR 2.0基因 |
| TESAR ALK AND JAK TARGETS MOUSE ES D4 UP | 5 | 5 | 该途径中的所有SZGR 2.0基因 |
| Martinez RB1靶向DN | 543 | 317 | 该途径中的所有SZGR 2.0基因 |
| Martinez TP53目标DN | 593 | 372 | 该途径中的所有SZGR 2.0基因 |
| MARTINEZ RB1 AND TP53 TARGETS DN | 591 | 366 | 该途径中的所有SZGR 2.0基因 |
| SMID BREAST CANCER RELAPSE IN BONE DN | 315 | 197 | 该途径中的所有SZGR 2.0基因 |
| 乳腺癌萧述三腔的DN | 564 | 326 | 该途径中的所有SZGR 2.0基因 |
| SMID BREAST CANCER BASAL UP | 648 | 398 | 该途径中的所有SZGR 2.0基因 |
| ZHOU PANCREATIC ENDOCRINE PROGENITOR | 14 | 11 | 该途径中的所有SZGR 2.0基因 |
| ZHOU PANCREATIC BETA CELL | 11 | 9 | 该途径中的所有SZGR 2.0基因 |
| HSIAO HOUSEKEEPING GENES | 389 | 245 | 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 |
| Duan PRDM5目标 | 79 | 52 | 该途径中的所有SZGR 2.0基因 |
| HUANG GATA2 TARGETS UP | 149 | 96 | 该途径中的所有SZGR 2.0基因 |
| WANG MLL TARGETS | 289 | 188 | 该途径中的所有SZGR 2.0基因 |
| 角色glis3目标 | 37 | 29 | 该途径中的所有SZGR 2.0基因 |
| rao由SALL4同工型B绑定 | 517 | 302 | 该途径中的所有SZGR 2.0基因 |
| ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY | 1725年 | 838 | 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-129-5p | 572 | 579 | 1A,m8 | hsa-miR-129脑 | CUUUUUGCGGUCUGGGCUUGC |
| HSA-MIR-129-5P | CUUUUUGCGGUCUGGGCUUGCU | ||||
| mir-182 | 975 | 981 | 1A | hsa-miR-182 | UUUGGCAAUGGUAGAACUCACA |
| mir-190 | 937 | 944 | 1A,m8 | hsa-miR-190 | ugauuauguuugauauauauaggu |
| mir-363 | 570 | 576 | 1A | hsa-miR-363 | AUUGCACGGUAUCCAUCUGUAA |
| mir-365 | 266 | 272 | m8 | hsa-miR-365 | uaaugccccuaaaaaauccuuau |
| miR-369-3p | 251 | 257 | m8 | HSA-MIR-369-3P | AAUAAUACAUGGUUGAUCUUU |
| mir-375 | 207 | 213 | 1A | hsa-miR-375 | uuuguucguucggcucgcguga |
| miR-450 | 572 | 578 | 1A | HSA-MIR-450 | uuuuugcgauguuccuaaua |
| miR-7 | 681 | 687 | m8 | HSA-MIR-7SZ | Uggaagacuaguuuuuguug |
| miR-96 | 975 | 981 | 1A | HSA-MIR-96脑 | UUUGGCACUAGCACAUUUUUGC |