Gene Page: OPHN1

Summary ?
GeneID4983
SymbolOPHN1
SynonymsARHGAP41|MRX60|OPN1
Descriptionoligophrenin 1
ReferenceMIM:300127|HGNC:HGNC:8148|Ensembl:ENSG00000079482|HPRD:02130|Vega:OTTHUMG00000021744
Gene typeprotein-coding
Map locationXq12
Fetal beta0.55
eGeneMyers' cis & trans
SupportPotential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2768571chrX67258888OPHN149830.14cis
rs4852316chr273919657OPHN149830.13trans
rs17350056chr273922876OPHN149830.18trans
rs12052539chr273937152OPHN149830.12trans
rs17350188chr273964841OPHN149830.1trans
rs12624267chr273986930OPHN149830.14trans
rs9875049chr356457469OPHN149830.09trans
rs1665659chr10118448297OPHN149830.18trans

Section II. Transcriptome annotation

General gene expression (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.

Gene expression of temporal and spatial changes (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)
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
GenePearson's Correlation Spearman's Correlation
TAL10.870.16
MAB21L10.850.48
KLK100.840.21
ANO20.840.33
SP50.830.27
MC4R0.810.17
MAP4K10.800.26
LEF10.790.21
LMO10.780.41
CEACAM210.780.18
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SLC26A4-0.22-0.30
BAIAP2-0.22-0.22
CACNG3-0.20-0.41
C20orf39-0.20-0.15
C1orf115-0.19-0.29
KIAA1614-0.190.01
GTDC1-0.19-0.01
PIK3IP1-0.19-0.24
SPARCL1-0.19-0.52
KCNJ4-0.18-0.39

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005100Rho GTPase activator activityTAS9582072 
GO:0003779actin bindingIEA-
GO:0005096GTPase activator activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007411axon guidanceTASaxon (GO term level: 13)9582072 
GO:0007399nervous system developmentTASneurite (GO term level: 5)9582072 
GO:0007165signal transductionTAS9582072 
GO:0006930substrate-bound cell migration, cell extensionTAS9582072 
GO:0030036actin cytoskeleton organizationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularIEA-
GO:0005634nucleusIDA18029348 
GO:0005737cytoplasmIDA18029348 
GO:0005886plasma membraneIDA18029348 
GO:0015629actin cytoskeletonIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA RHO PATHWAY 3223All SZGR 2.0 genes in this pathway
PID RHOA REG PATHWAY 4630All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY RHO GTPASES 11381All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP 473314All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
MATTIOLI MGUS VS PCL 11662All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292168All SZGR 2.0 genes in this pathway
CHANG POU5F1 TARGETS UP 1510All SZGR 2.0 genes in this pathway
STOSSI RESPONSE TO ESTRADIOL 5035All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS UP 268157All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D DN 270181All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 UP 295149All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 15099All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway