Gene Page:GBE1

Summary?
GeneID 2632
Symbol GBE1
Synonyms APBD|GBE|GSD4
Description glucan (1,4-alpha-), branching enzyme 1
Reference MIM:607839|HGNC:HGNC:4180|Ensembl:ENSG00000114480|HPRD:01985|Vega:OTTHUMG00000158978
Gene type protein-coding
Map location 3p12.3
Pascal p-value 0.047
DEG p-value DEG:Sanders_2014:DS1_p=0.162:DS1_beta=0.019000:DS2_p=2.83e-05:DS2_beta=0.200:DS2_FDR=1.56e-03
DMG 1 (# studies)
eGene Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DEG:Sanders_2013 Microarray Whole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.04047
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.04359

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg08887093 3 81810259 GBE1 4.44E-8 -0.009 1.22E-5 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs4545635 chr12 104636843 GBE1 2632 0.15 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

补充说明:
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
MAP3K12 0.86 0.87
GGT7 0.85 0.83
C17orf28 0.84 0.84
SUPT7L 0.83 0.80
C16orf58 0.83 0.82
RPS6KL1 0.83 0.86
HMGXB3 0.83 0.82
GBA2 0.82 0.80
ZNF839 0.82 0.81
SMG5 0.82 0.84
Top 10 negatively co-expressed genes
Gene Pearson'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 function GO term Evidence Neuro keywords PubMed ID
GO:0003844 1,4-alpha-glucan branching enzyme activity EXP 8613547
GO:0003844 1,4-alpha-glucan branching enzyme activity TAS 8613547
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA -
GO:0016757 transferase activity, transferring glycosyl groups IEA -
GO:0043169 cation binding IEA -
生物过程 GO term Evidence Neuro keywords PubMed ID
GO:0006091 generation of precursor metabolites and energy TAS 8613547
GO:0005978 glycogen biosynthetic process IEA -
GO:0005975 carbohydrate metabolic process IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005829 cytosol EXP 8613547

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG STARCH AND SUCROSE METABOLISM 52 33 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES 247 154 All SZGR 2.0 genes in this pathway
REACTOME GLUCOSE METABOLISM 69 42 All SZGR 2.0 genes in this pathway
FRASOR TAMOXIFEN RESPONSE UP 51 36 All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP 473 314 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN 384 230 All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404 246 All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362 238 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171 112 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 130 85 All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN 91 58 All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 104 72 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485 334 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234 147 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST PRENEOPLASTIC DN 55 33 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION DN 84 54 All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA FOREVER UP 19 13 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 149 93 All SZGR 2.0 genes in this pathway
BERENJENO通过RHOA转换 536 340 All SZGR 2.0 genes in this pathway
HERNANDEZ MITOTIC ARREST BY DOCETAXEL 1 DN 38 23 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855 609 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483 336 All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER UP 227 137 All SZGR 2.0 genes in this pathway
MAINA VHL TARGETS DN 18 14 All SZGR 2.0 genes in this pathway
GROSS ELK3 TARGETS DN 32 17 All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 DN 156 106 All SZGR 2.0 genes in this pathway
GROSS HIF1A TARGETS DN 25 15 All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA HIF1A DN 110 78 All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 AND HIF1A UP 142 104 All SZGR 2.0 genes in this pathway
SCHAEFFER整体护理E DEVELOPMENT 6HR UP 176 115 All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424 268 All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER METASTASIS DN 121 65 All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207 145 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555 346 All SZGR 2.0 genes in this pathway
NADLER OBESITY DN 48 34 All SZGR 2.0 genes in this pathway
MENSE缺氧了 98 71 All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN 50 32 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544 307 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 101 70 All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261 183 All SZGR 2.0 genes in this pathway
GENTILE UV LOW DOSE DN 67 46 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6 189 112 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863 514 All SZGR 2.0 genes in this pathway
WINTER HYPOXIA METAGENE 242 168 All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153 107 All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G1 DN 40 26 All SZGR 2.0 genes in this pathway
MOOTHA GLYCOGEN METABOLISM 21 16 All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456 287 All SZGR 2.0 genes in this pathway
QI HYPOXIA 140 96 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336 211 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344 215 All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770 480 All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784 464 All SZGR 2.0 genes in this pathway