Gene Page:GNAS
Summary？
| GeneID | 2778 |
| Symbol | GNAS |
| Synonyms | aho | c20orf45 | gnas1 | gpsa | gsa | gsp | nesp | poh | scg6 | sgvi |
| Description | GNA复合基因座 |
| 参考erence | MIM:139320|HGNC:HGNC:4392|Ensembl:ENSG00000087460|HPRD:00761|Vega:OTTHUMG00000033069 |
| 基因类型 | 蛋白质编码 |
| Map location | 20q13.3 |
| Pascal p-value | 0.027 |
| Sherlock p-value | 0.626 |
| DEG P值 | DEG:Zhao_2015:p=6.55e-04:q=0.0955 |
| 胎儿β | -1。603 |
| DMG | 1(# studies) |
| Support | 多巴胺 G蛋白继电器 G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS G2Cdb.humanNRC G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet Darnell 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 | |
| DEG:Zhao_2015 | RNA Sequencing analysis | 成绩单ome sequencing and genome-wide association analyses reveal lysosomal function and actin cytoskeleton remodeling in schizophrenia and bipolar disorder. | |
| DMG：JAFFE_2016 | 全基因组DNA甲基化分析 | this dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. | 3 |
| 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。 | |
| Association | A combined odds ratio method (Sun等。2008), association studies | 1 | Link to SZGene |
| 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 | Hits with neuro-related keywords: 2 | |
| 网work | 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
DNM表
DNM表| Gene | 染色体 | 位置 | 参考 | Alt | 成绩单 | AA change | Mutation type | Sift | CG46 | 特征 | 学习 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GNAS | chr20 | 57466823 | C | t | NM_000516 NM_001077488 NM_001077489 NM_001077490 NM_016592 NM_080425 NM_080426 NR_003259 |
。 。 。 。 。 。 。 。 |
silent silent silent intronic intronic intronic silent intronic |
Schizophrenia | DNM:Fromer_2014 |
Differentially methylated gene
| Probe | 染色体 | 位置 | Nearest gene | p（dis） | Beta (dis) | fdr（dis） | 学习 |
|---|---|---|---|---|---|---|---|
| cg23143233 | 20 | 57465864 | GNAS | 2.87E-9 | -0.013 | 2.02E-6 | DMG：JAFFE_2016 |
| cg12372477 | 20 | 57465915 | GNAS | 1.64E-8 | -0.008 | 6.03E-6 | DMG：JAFFE_2016 |
| cg21330323 | 20 | 57414596 | GNAS | 9.29E-8 | -0.015 | 2.11E-5 | DMG：JAFFE_2016 |
第二节。转录组注释
一般基因表达（GTEX）
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: fetal (13 - 26 postconception weeks), 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％。
No co-expressed genes in brain regions
第三节。基因本体论注释
| Molecular function | 去学期 | 证据 | 神经关键字 | PubMed ID |
|---|---|---|---|---|
| 去：0000166 | nucleotide binding | IEA | - | |
| GO:0004871 | 信号传感器活性 | IEA | - | |
| 去：0003674 | Molecular_Function | ND | - | |
| GO:0003924 | GTPase activity | nas | 1716359 | |
| GO:0003924 | GTPase activity | tAS | 9159128 | |
| 去：0005525 | GTP binding | IEA | - | |
| 去：0005525 | GTP binding | nas | - | |
| GO:0019001 | 圭烷核苷酸结合 | IEA | - | |
| GO：0042802 | identical protein binding | IPI | 17353931 | |
| Biological process | 去学期 | 证据 | 神经关键字 | PubMed ID |
| GO:0007191 | dopamine receptor, adenylate cyclase activating pathway | IEA | 多巴胺（GO期限：12） | - |
| GO:0001958 | endochondral ossification | IEA | - | |
| GO:0007190 | 腺苷酸环化酶活性的激活 | tAS | 9159128 | |
| GO:0007189 | G蛋白信号传导，腺苷酸环化酶激活途径 | nas | 1716359 | |
| GO:0007186 | G-protein coupled receptor protein signaling pathway | IEA | - | |
| GO:0006112 | energy reserve metabolic process | IEA | - | |
| GO:0007165 | signal transduction | IEA | - | |
| GO:0007165 | signal transduction | nas | - | |
| GO:0009306 | protein secretion | nas | 10729789 | |
| GO:0009755 | 激素介导的信号传导 | EXP | 12626323 | |
| GO:0009791 | post-embryonic development | IEA | - | |
| 去：0007608 | sensory perception of smell | tAS | 3018580 | |
| GO:0007565 | female pregnancy | nas | 10729789 | |
| 去：0006605 | 蛋白质靶向 | IEA | - | |
| GO:0042493 | response to drug | IEA | - | |
| GO:0051216 | cartilage development | IEA | - | |
| GO:0040032 | post-embryonic body morphogenesis | IEA | - | |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IEA | - | |
| GO:0035116 | embryonic hindlimb morphogenesis | IEA | - | |
| GO：0046907 | intracellular transport | nas | 7997272 | |
| GO:0045669 | positive regulation of osteoblast differentiation | IEA | - | |
| GO:0045672 | positive regulation of osteoclast differentiation | IEA | - | |
| Cellular component | 去学期 | 证据 | 神经关键字 | PubMed ID |
| GO:0042995 | cell projection | IEA | Axon（GO术语级别：4） | - |
| GO:0005834 | 异三聚体G蛋白复合物 | nas | 1716359 | |
| GO:0005834 | 异三聚体G蛋白复合物 | tAS | 9159128 | |
| 去：0005576 | 细胞外区域 | nas | - | |
| 去：0005624 | membrane fraction | IEA | - | |
| 去：0005737 | cytoplasm | IDA | 11256614 | |
| 去：0005886 | plasma membrane | IEA | - | |
| 去：0005886 | plasma membrane | nas | - | |
| 去：0005886 | plasma membrane | tAS | 9727013 | |
| GO:0031224 | 膜的内在 | IDA | 7997272 | |
| GO:0032588 | trans-Golgi network membrane | IDA | 7997272 |
Section IV. Protein-protein interaction annotation
| Interactors | 别名b | 官方全名b | 实验 | Source | PubMed ID |
|---|---|---|---|---|---|
| adcy2 | AC2 | FLJ16822 | FLJ45092 | HBAC2 | KIAA1060 | MGC133314 | 腺苷酸环化酶2（脑） | - | HPRD | 9268375 |
| adcy5 | AC5 | 腺苷酸环化酶5 | - | HPRD | 9268375 |
| adcy6 | AC6 | DKFZp779F075 | KIAA0422 | 腺苷酸环化酶6 | - | HPRD,BioGRID | 9228084 |
| adora1 | RDC7 | adenosine A1 receptor | - | HPRD | 10521440 |
| ADRB3 | BETA3AR | adrenergic, beta-3-, receptor | - | HPRD | 8011597 |
| AVPR2 | ADHR | DI1 | DIR | DIR3 | MGC126533 | MGC138386 | NDI | V2R | 精氨酸加压素受体2 | - | HPRD | 8621513 |
| CAV3 | lgmd1c |LQT9 |MGC126100 |MGC126101 |MGC126129 |VIP-21 |VIP21 | caveolin 3 | - | HPRD,BioGRID | 7797570 |
| CRHR1 | CRF-R | CRF1 | CRFR1 | CRH-R1h | CRHR | CRHR1f | 皮质激素释放激素受体1 | - | HPRD,BioGRID | 10598591 |
| FSCN1 | FLJ38511 | SNL |过去 | fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) | Affinity Capture-MS | Biogrid | 17353931 |
| GCGR | GGR | MGC138246 | glucagon receptor | - | HPRD | 1908089 |
| GNB1 | - | 鸟嘌呤核苷酸结合蛋白（G蛋白），β多肽1 | G-beta-1 interacts with G-alpha-s. | 绑定 | 15782186 |
| GNB1 | - | 鸟嘌呤核苷酸结合蛋白（G蛋白），β多肽1 | - | HPRD | 11294873 |
| Htr6 | 5-HT6 | 5-HT6R | 5-羟色胺（5-羟色胺）受体6 | - | HPRD | 11916537 |
| lhcgr | FLJ41504 | LCGR | LGR2 | LH/CG-R | LH/CGR | LHR | LHRHR | LSH-R | luteinizing hormone/choriogonadotropin receptor | - | HPRD | 10493819 |
| PAICS | ADE2 | ADE2H1 | AIRC | DKFZp781N1372 | MGC1343 | MGC5024 | PAIS | phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase | Affinity Capture-MS | Biogrid | 17353931 |
| PLEKHB1 | KPL1 |phr1 |phret1 | pleckstrin homology domain containing, family B (evectins) member 1 | - | HPRD | 10585447 |
| PTGDR | AS1 | ASRT1 | DP | DP1 | MGC49004 | prostaglandin D2 receptor (DP) | - | HPRD,BioGRID | 12672054 |
| PTGIR | IP |MGC102830 |Pripr | 前列腺素I2（Prostacyclin）受体（IP） | - | HPRD,BioGRID | 12488443 |
| RGS2 | G0S8 | G蛋白信号的调节剂2，24KDA | - | HPRD,BioGRID | 9794454 |
| RIC8A | MGC104517 | MGC131931 | MGC148073 | MGC148074 | RIC8 | synembryn | 对胆碱酯酶抑制剂8同源物A（秀丽隐杆线虫）的抗性 | - | HPRD,BioGRID | 12652642 |
| RIC8B | FLJ10620 |MGC39476 |ric8 |hsyn | 对胆碱酯酶8同源物B（秀丽隐杆线虫）抑制剂的抗性 | - | HPRD | 12652642 |
| ruvbl1 | ECP54 |ino80h |NMP238 |Pontin |Pontin52 |RVB1 |tih1 |TIP49 |TIP49A | RuvB-like 1 (E. coli) | Affinity Capture-MS | Biogrid | 17353931 |
| SHMT2 | GLYA | SHMT | 丝氨酸羟基转移酶2（线粒体） | Affinity Capture-MS | Biogrid | 17353931 |
| SNX13 | KIAA0713 |RGS-PX1 | sorting nexin 13 | - | HPRD,BioGRID | 11729322 |
| tSHR | CHNG1 | LGR3 | MGC75129 | hTSHR-I | thyroid stimulating hormone receptor | - | HPRD | 9525885 |
| ttC1 | FLJ46404 |TPR1 | 四肽重复域1 | G-alpha-s-Short interacts with TPR1. | 绑定 | 12748287 |
| ttC1 | FLJ46404 |TPR1 | 四肽重复域1 | - | HPRD,BioGRID | 12748287 |
| ttC1 | FLJ46404 |TPR1 | 四肽重复域1 | G-alpha-s-Long interacts with TPR1. | 绑定 | 12748287 |
| VIPR1 | FLJ41949 |HVR1 |II |PACAP-R-2 |RDC1 |vapc1 |VIPR |维格|VPAC1 |VPCAP1R | vasoactive intestinal peptide receptor 1 | - | HPRD,BioGRID | 11812005 |