Summary ?
GeneID55770
SymbolEXOC2
SynonymsSEC5|SEC5L1|Sec5p
Descriptionexocyst complex component 2
ReferenceMIM:615329|HGNC:HGNC:24968|Ensembl:ENSG00000112685|HPRD:11544|Vega:OTTHUMG00000137437
Gene typeprotein-coding
Map location6p25.3
Pascal p-value0.341
Fetal beta0.438
DMG1 (# studies)
eGeneCerebellum
SupportEXOCYTOSIS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IGenome scan meta-analysisPsr: 0.0159 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EXOC2chr6617804GANM_018303
NR_073064
.
.
silent
npcRNA
SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg018705196693728EXOC22.075E-40.2540.035DMG:Wockner_2014


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
RRM10.950.91
TRIP130.950.88
LMNB10.940.89
DNA20.940.84
NUP2050.940.89
MCM40.930.90
RCC10.920.87
NUP1070.920.87
BUD130.920.90
EZH20.920.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HLA-F-0.67-0.81
FBXO2-0.67-0.71
C5orf53-0.66-0.74
AIFM3-0.65-0.77
LHPP-0.64-0.64
ALDOC-0.64-0.71
AF347015.27-0.64-0.87
AF347015.31-0.63-0.87
PTH1R-0.63-0.71
S100B-0.63-0.81

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI12459492 
GO:0017160Ral GTPase bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006887exocytosisIEA-
GO:0015031protein transportIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID INSULIN PATHWAY 4532All SZGR 2.0 genes in this pathway
PID ARF6 TRAFFICKING PATHWAY 4934All SZGR 2.0 genes in this pathway
REACTOME DIABETES PATHWAYS 13391All SZGR 2.0 genes in this pathway
REACTOME INSULIN SYNTHESIS AND PROCESSING 2115All SZGR 2.0 genes in this pathway
CAFFAREL RESPONSE TO THC UP 3320All SZGR 2.0 genes in this pathway
CAFFAREL RESPONSE TO THC 24HR 5 DN 5935All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
GRADE COLON AND RECTAL CANCER UP 285167All SZGR 2.0 genes in this pathway
ALONSO METASTASIS UP 198128All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G1 UP 11370All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway