Summary ?
GeneID2629
SymbolGBA
SynonymsGBA1|GCB|GLUC
Descriptionglucosidase, beta, acid
ReferenceMIM:606463|HGNC:HGNC:4177|Ensembl:ENSG00000177628|HPRD:06973|Vega:OTTHUMG00000035841
Gene typeprotein-coding
Map location1q21
Sherlock p-value0.725
Fetal beta-1.591
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.0235 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00814 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
GBAchr1155205048GANM_000157
NM_001005741
NM_001005742
NM_001171811
NM_001171812
.
.
.
.
.
silent
silent
silent
silent
silent
SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6976605chr7125687967GBA26290.2trans
rs984325chr167772248GBA26290.03trans

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
RGS190.830.78
WNT40.820.80
PIP5KL10.790.80
KRT18P190.770.53
VAT10.760.66
GCHFR0.740.63
ETNK20.740.71
TP53I30.730.54
PGAM20.730.49
GAP430.730.72
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.33-0.42-0.63
AF347015.27-0.42-0.63
AF347015.8-0.41-0.64
MT-CYB-0.40-0.63
AF347015.2-0.40-0.64
AF347015.15-0.40-0.62
AF347015.31-0.40-0.59
MT-CO2-0.40-0.59
AF347015.26-0.38-0.65
FOXO4-0.38-0.51

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003824catalytic activityIEA-
GO:0005515protein bindingIPI18022370 
GO:0004348glucosylceramidase activityIEA-
GO:0016798hydrolase activity, acting on glycosyl bondsIEA-
GO:0043169cation bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0005975carbohydrate metabolic processIEA-
GO:0008152metabolic processIEA-
GO:0007040lysosome organizationIEA-
GO:0006665sphingolipid metabolic processIEA-
GO:0006629lipid metabolic processIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005764lysosomeIEA-
GO:0005765lysosomal membraneIEA-
GO:0016020membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG OTHER GLYCAN DEGRADATION 1612All SZGR 2.0 genes in this pathway
KEGG SPHINGOLIPID METABOLISM 4026All SZGR 2.0 genes in this pathway
KEGG LYSOSOME 12183All SZGR 2.0 genes in this pathway
REACTOME GLYCOSPHINGOLIPID METABOLISM 3822All SZGR 2.0 genes in this pathway
REACTOME PHOSPHOLIPID METABOLISM 198112All SZGR 2.0 genes in this pathway
REACTOME SPHINGOLIPID METABOLISM 6940All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS 478302All SZGR 2.0 genes in this pathway
MARKEY RB1 ACUTE LOF UP 215137All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW UP 162104All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181107All SZGR 2.0 genes in this pathway
LIANG HEMATOPOIESIS STEM CELL NUMBER LARGE VS TINY UP 4424All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 1Q21 AMPLICON 3818All SZGR 2.0 genes in this pathway
JAIN NFKB SIGNALING 7544All SZGR 2.0 genes in this pathway
APPEL IMATINIB RESPONSE 3322All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP 244151All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 8 8657All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS DN 292189All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SURVIVAL UP 7349All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN 180116All SZGR 2.0 genes in this pathway