Summary ?
GeneID84033
SymbolOBSCN
SynonymsARHGEF30|UNC89
Descriptionobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
ReferenceMIM:608616|HGNC:HGNC:15719|Ensembl:ENSG00000154358|HPRD:08594|HPRD:10551|Vega:OTTHUMG00000039772
Gene typeprotein-coding
Map location1q42.13
Sherlock p-value0.844
Fetal beta2.163
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0024 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
OBSCNchr1228465539GANM_001098623
NM_001271223
NM_052843
p.2280R>Q
p.2709R>Q
p.2280R>Q
missense
missense
missense
SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs7584986chr2184111432OBSCN840330.11trans
rs10008800chr45773180OBSCN840330.17trans
rs10491487chr580323367OBSCN840330.01trans
rs16955618chr1529937543OBSCN840339.804E-5trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005089Rho guanyl-nucleotide exchange factor activityIEA-
GO:0000287magnesium ion bindingIEA-
GO:0005515protein bindingIPI11448995 |12527750 
GO:0005524ATP bindingIEA-
GO:0004674protein serine/threonine kinase activityIEA-
GO:0004713protein tyrosine kinase activityIEA-
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006468protein amino acid phosphorylationIEA-
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0035023regulation of Rho protein signal transductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularIEA-
GO:0005737cytoplasmIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
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
REACTOME SIGNALLING BY NGF 217167All SZGR 2.0 genes in this pathway
REACTOME NRAGE SIGNALS DEATH THROUGH JNK 4333All SZGR 2.0 genes in this pathway
REACTOME CELL DEATH SIGNALLING VIA NRAGE NRIF AND NADE 6043All SZGR 2.0 genes in this pathway
REACTOME P75 NTR RECEPTOR MEDIATED SIGNALLING 8161All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920449All SZGR 2.0 genes in this pathway
REACTOME G ALPHA1213 SIGNALLING EVENTS 7456All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING 805368All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D CLUSTER UP 2719All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D UP 8962All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA PCA3 UP 8054All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway
PEDRIOLI MIR31 TARGETS UP 221120All SZGR 2.0 genes in this pathway