Gene Page:SPEG

Summary?
GeneID 10290
Symbol SPEG
Synonyms APEG-1|APEG1|BPEG|CNM5|SPEGalpha|SPEGbeta
Description SPEG complex locus
Reference MIM:615950|HGNC:HGNC:16901|Ensembl:ENSG00000072195|HPRD:10653|Vega:OTTHUMG00000058925
Gene type protein-coding
Map location 2q35
Pascal p-value 0.214
Sherlock p-value 0.816
Fetal beta 0.616
DMG 1 (# studies)
eGene Myers' cis & trans
Support CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.01016
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.00916

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
SPEG chr2 220344705 G T NM_005876 p.1729D>Y missense Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg21347733 2 220306674 SPEG 2.968E-4 -0.257 0.039 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17762315 chr5 76807576 SPEG 10290 0.1 trans
rs4265582 chr11 18797649 SPEG 10290 0.17 trans
rs16955618 chr15 29937543 SPEG 10290 0.14 trans

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
Gene Pearson's Correlation Spearman's Correlation
SERPINA1 0.74 0.74
XXbac-BPG116M5.1 0.70 0.66
C1QC 0.69 0.71
FPR1 0.68 0.62
PARP9 0.67 0.59
TAP1 0.67 0.58
TYMP 0.67 0.73
SLC15A3 0.67 0.60
CD14 0.65 0.65
SPI1 0.65 0.69
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
LMO7 -0.33 -0.33
SEMA3A -0.32 -0.30
GPR21 -0.31 -0.33
LIMCH1 -0.31 -0.29
MYT1L -0.31 -0.31
MAPK6 -0.31 -0.35
UPF2 -0.31 -0.32
GPR22 -0.31 -0.33
AKT3 -0.31 -0.31
JMY -0.31 -0.32

Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0005524 ATP binding IEA -
GO:0004674 protein serine/threonine kinase activity IEA -
GO:0016740 transferase activity IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0006468 protein amino acid phosphorylation IEA -
GO:0008285 negative regulation of cell proliferation TAS 8663449
GO:0007517 muscle development TAS 8663449
GO:0030154 cell differentiation IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005634 nucleus TAS 8663449

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
LIU PROSTATE CANCER DN 481 290 All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169 118 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS C UP 170 114 All SZGR 2.0 genes in this pathway
OUELLET CULTURED OVARIAN CANCER INVASIVE VS LMP UP 69 40 All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769 437 All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292 168 All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS DN 87 69 All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475 313 All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830 547 All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 24HR DN 33 21 All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN 161 105 All SZGR 2.0 genes in this pathway
BONCI TARGETS OF MIR15A AND MIR16 1 91 75 All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264 159 All SZGR 2.0 genes in this pathway
FIRESTEIN PROLIFERATION 175 125 All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210 725 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 All SZGR 2.0 genes in this pathway
迈斯纳大脑HCP H3 UNMETHYLATED 37 21 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3 UNMETHYLATED 228 119 All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229 135 All SZGR 2.0 genes in this pathway
VANLOO SP3 TARGETS DN 89 47 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658 397 All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784 464 All SZGR 2.0 genes in this pathway
DURAND STROMA S UP 297 194 All SZGR 2.0 genes in this pathway