Gene Page: GBE1

Summary ?
GeneID2632
SymbolGBE1
SynonymsAPBD|GBE|GSD4
Descriptionglucan (1,4-alpha-), branching enzyme 1
ReferenceMIM:607839|HGNC:HGNC:4180|Ensembl:ENSG00000114480|HPRD:01985|Vega:OTTHUMG00000158978
Gene typeprotein-coding
Map location3p12.3
Pascal p-value0.047
DEG p-valueDEG:Sanders_2014:DS1_p=0.162:DS1_beta=0.019000:DS2_p=2.83e-05:DS2_beta=0.200:DS2_FDR=1.56e-03
DMG1 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DEG:Sanders_2013MicroarrayWhole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.04047 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.04359 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg08887093381810259GBE14.44E-8-0.0091.22E-5DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4545635chr12104636843GBE126320.15trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
MAP3K120.860.87
GGT70.850.83
C17orf280.840.84
SUPT7L0.830.80
C16orf580.830.82
RPS6KL10.830.86
HMGXB30.830.82
GBA20.820.80
ZNF8390.820.81
SMG50.820.84
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.69-0.61
AF347015.31-0.67-0.57
MT-CO2-0.63-0.55
AF347015.8-0.63-0.54
AF347015.27-0.61-0.56
AF347015.2-0.61-0.51
MT-CYB-0.61-0.52
GNG11-0.59-0.57
MT-ATP8-0.58-0.57
AF347015.33-0.57-0.48

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:00038441,4-alpha-glucan branching enzyme activityEXP8613547 
GO:00038441,4-alpha-glucan branching enzyme activityTAS8613547 
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compoundsIEA-
GO:0016757transferase activity, transferring glycosyl groupsIEA-
GO:0043169cation bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006091generation of precursor metabolites and energyTAS8613547 
GO:0005978glycogen biosynthetic processIEA-
GO:0005975carbohydrate metabolic processIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP8613547 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG STARCH AND SUCROSE METABOLISM 5233All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES 247154All SZGR 2.0 genes in this pathway
REACTOME GLUCOSE METABOLISM 6942All SZGR 2.0 genes in this pathway
FRASOR TAMOXIFEN RESPONSE UP 5136All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP 473314All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN 384230All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404246All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362238All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171112All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 13085All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN 9158All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 10472All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485334All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST PRENEOPLASTIC DN 5533All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION DN 8454All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA FOREVER UP 1913All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 14993All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
HERNANDEZ MITOTIC ARREST BY DOCETAXEL 1 DN 3823All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER UP 227137All SZGR 2.0 genes in this pathway
MAINA VHL TARGETS DN 1814All SZGR 2.0 genes in this pathway
GROSS ELK3 TARGETS DN 3217All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 DN 156106All SZGR 2.0 genes in this pathway
GROSS HIF1A TARGETS DN 2515All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA HIF1A DN 11078All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 AND HIF1A UP 142104All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR UP 176115All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER METASTASIS DN 12165All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207145All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
NADLER OBESITY DN 4834All SZGR 2.0 genes in this pathway
MENSE HYPOXIA UP 9871All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN 5032All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544307All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 10170All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
GENTILE UV LOW DOSE DN 6746All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6 189112All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
WINTER HYPOXIA METAGENE 242168All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153107All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G1 DN 4026All SZGR 2.0 genes in this pathway
MOOTHA GLYCOGEN METABOLISM 2116All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
QI HYPOXIA 14096All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336211All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway