Gene Page:ARHGEF11

概括?
基因 9826
象征 ARHGEF11
Synonyms GTRAP48|PDZ-RHOGEF
Description Rho guanine nucleotide exchange factor 11
Reference MIM:605708|HGNC:HGNC:14580|Ensembl:ENSG00000132694|HPRD:09302|Vega：Otthumg0000000041292
Gene type protein-coding
Map location 1q21
Sherlock p-value 0.519
Fetal beta -0.636
eGene Myers' cis & trans
Support COMPOSITESET
Darnell FMRP targets
Ascano FMRP targets
Potential synaptic genes

数据源中的基因
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM：Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_I Genome scan meta-analysis Psr: 0.0235
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.00814
Literature High-throughput literature-search 有限公司-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias 点击to show details

第一节遗传学和表观遗传学注释

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type 筛 CG46 Trait Study
ARHGEF11 chr1 156911204 G A NM_014784
NM_198236		 .
.		 silent
silent		 精神分裂症 DNM：Fromer_2014
ARHGEF11 chr1 156918274 G A NM_014784
NM_198236		 p.608R>C
p.648R>C		 错过
错过		 精神分裂症 DNM：Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs6128541 chr20 57917688 ARHGEF11 9826 0.07 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

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

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
SNAP47 0.86 0.81
TMEM55B 0.85 0.80
TOMM40L 0.84 0.79
ATG4B 0.84 0.80
ARFIP2 0.84 0.74
UBL4A 0.83 0.78
ST3GAL3 0.83 0.81
C7orf20 0.82 0.78
TBRG4 0.82 0.76
GSK3A 0.82 0.77
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AF347015.21 -0.71 -0.64
AF347015.8 -0.70 -0.60
MT-CO2 -0.68 -0.58
AF347015.18 -0.67 -0.63
AF347015.26 -0.67 -0.58
MT-CYB -0.67 -0.59
AF347015.2 -0.67 -0.57
AF347015.31 -0.67 -0.58
MT-ATP8 -0.66 -0.64
AF347015.27 -0.66 -0.61

Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA -
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS 10026210
GO:0005085 guanyl-nucleotide交换因素活动 IEA -
GO:0001664 G-protein-coupled receptor binding IDA 15755723
去：0004871 signal transducer activity IEA -
GO:0005096 GTPase activator activity IEA -
GO:0005515 protein binding IEA -
GO:0005515 protein binding 新闻学会 10026210
生物过程 GO term Evidence Neuro keywords PubMed ID
GO:0001558 regulation of cell growth NAS 10026210
去：0000910 cytokinesis NAS 10026210
GO:0007186 G蛋白偶联受体蛋白信号通路 TAS 10026210
GO:0030010 establishment of cell polarity NAS 10026210
GO:0006941 条纹肌肉收缩 NAS 10026210
去：0006928 cell motion NAS 10026210
GO:0030036 actin cytoskeleton organization NAS 10026210
GO:0035023 regulation of Rho protein signal transduction IEA -
GO:0045893 positive regulation of transcription, DNA-dependent IDA 10026210
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005622 intracellular IC 10026210
GO:0005622 intracellular IEA -
GO:0005737 细胞质 IDA 15755723
去：0016020 membrane IEA -

V.途径注释

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
kegg血管平滑肌收缩 115 81 该途径中的所有SZGR 2.0基因
BIOCARTA MYOSIN PATHWAY 31 22 该途径中的所有SZGR 2.0基因
Biocarta Rho途径 32 23 该途径中的所有SZGR 2.0基因
BIOCARTA PAR1 PATHWAY 37 28 该途径中的所有SZGR 2.0基因
SIG趋化性 45 37 该途径中的所有SZGR 2.0基因
ST GA13 PATHWAY 37 32 该途径中的所有SZGR 2.0基因
PID RHOA REG PATHWAY 46 30 该途径中的所有SZGR 2.0基因
PID FAK PATHWAY 59 45 该途径中的所有SZGR 2.0基因
Rho GTPases的Reactome信号传导 113 81 该途径中的所有SZGR 2.0基因
REACTOME SIGNALLING BY NGF 217 167 该途径中的所有SZGR 2.0基因
REACTOME DEVELOPMENTAL BIOLOGY 396 292 该途径中的所有SZGR 2.0基因
REACTOME NRAGE SIGNALS DEATH THROUGH JNK 43 33 该途径中的所有SZGR 2.0基因
REACTOME CELL DEATH SIGNALLING VIA NRAGE NRIF AND NADE 60 43 该途径中的所有SZGR 2.0基因
REACTOME P75 NTR RECEPTOR MEDIATED SIGNALLING 81 61 该途径中的所有SZGR 2.0基因
REACTOME SIGNALING BY GPCR 920 449 该途径中的所有SZGR 2.0基因
REACTOME AXON GUIDANCE 251 188 该途径中的所有SZGR 2.0基因
REACTOME G ALPHA1213 SIGNALLING EVENTS 74 56 该途径中的所有SZGR 2.0基因
REACTOME GPCR DOWNSTREAM SIGNALING 805 368 该途径中的所有SZGR 2.0基因
REACTOME SEMA4D IN SEMAPHORIN SIGNALING 32 22 该途径中的所有SZGR 2.0基因
REACTOME SEMAPHORIN INTERACTIONS 68 53 该途径中的所有SZGR 2.0基因
REACTOME SEMA4D INDUCED CELL MIGRATION AND GROWTH CONE COLLAPSE 27 21 该途径中的所有SZGR 2.0基因
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335 193 该途径中的所有SZGR 2.0基因
MULLIGHAN NPM1 SIGNATURE 3 UP 341 197 该途径中的所有SZGR 2.0基因
LOCKWOOD AMPLIFIED IN LUNG CANCER 214 139 该途径中的所有SZGR 2.0基因
BROWNE HCMV INFECTION 48HR DN 504 323 该途径中的所有SZGR 2.0基因
MCCABE BOUND BY HOXC6 469 239 该途径中的所有SZGR 2.0基因
MIKKELSEN MCV6 LCP WITH H3K4ME3 162 80 该途径中的所有SZGR 2.0基因
MIKKELSEN MEF LCP WITH H3K4ME3 128 68 该途径中的所有SZGR 2.0基因
MIKKELSEN IPS LCP WITH H3K4ME3 174 100 该途径中的所有SZGR 2.0基因
MIKKELSEN ES LCP WITH H3K4ME3 142 80 该途径中的所有SZGR 2.0基因
MIKKELSEN NPC LCP WITH H3K4ME3 58 34 该途径中的所有SZGR 2.0基因

Section VI. microRNA annotation

mirna家族 Target position miRNA ID miRNA seq
UTR start UTR end Match method
mir-128 995 1001 m8 HSA-MIR-128A UCACAGUGAACCGGUCUCUUUU
HSA-MIR-128B UCACAGUGAACCGGUCUCUUUC
miR-132/212 1070 1076 m8 hsa-miR-212SZ UAACAGUCUCCAGUCACGGCC
hsa-miR-132brain uaacagucuacccaugggg
miR-17-5p/20/93.mr/106/519.d 374 380 m8 hsa-miR-17-5p caaagugcuuacugcagguagu
hsa-miR-20abrain UAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106a AAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZ UAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZ CAAAGUGCUCAUAGUGCAGGUAG
HSA-MIR-519D caaagugccucccuuuagugugu