Summary ?
GeneID1833
SymbolEPYC
SynonymsDSPG3|PGLB|Pg-Lb|SLRR3B
Descriptionepiphycan
ReferenceMIM:601657|HGNC:HGNC:3053|Ensembl:ENSG00000083782|HPRD:15988|Vega:OTTHUMG00000170072
Gene typeprotein-coding
Map location12q21
Pascal p-value0.356
Fetal beta-0.517
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.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EPYCchr1291365717GANM_004950p.188R>*nonsenseSchizophreniaDNM:Fromer_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
HTR5A0.920.91
CTSB0.920.91
SULT4A10.920.93
AC005277.10.910.93
NDRG30.910.93
NPTN0.910.93
SERINC30.910.93
PTPRN0.910.89
NMT10.910.91
SYNGR10.910.94
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
BCL7C-0.47-0.51
AC011475.1-0.46-0.52
FAM36A-0.44-0.39
GTF3C6-0.44-0.42
RAB13-0.43-0.50
GPR125-0.42-0.34
RBMX2-0.42-0.41
C9orf46-0.42-0.41
C21orf57-0.41-0.43
AC005921.3-0.41-0.55

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SHETH LIVER CANCER VS TXNIP LOSS PAM5 9459All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
SMID BREAST CANCER ERBB2 UP 14783All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway
ANASTASSIOU CANCER MESENCHYMAL TRANSITION SIGNATURE 6440All SZGR 2.0 genes in this pathway
NABA PROTEOGLYCANS 3523All SZGR 2.0 genes in this pathway
NABA CORE MATRISOME 275148All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway