Gene Page: TOP3B

Summary ?
GeneID8940
SymbolTOP3B
SynonymsTOP3B1
Descriptiontopoisomerase (DNA) III beta
ReferenceMIM:603582|HGNC:HGNC:11993|Ensembl:ENSG00000100038|HPRD:04662|Vega:OTTHUMG00000167438
Gene typeprotein-coding
Map location22q11.22
Pascal p-value0.015
Sherlock p-value0.301
Fetal beta-0.34
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Nucleus accumbens basal ganglia
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
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: 0.031 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
TOP3Bchr2222316911CTNM_003935p.472R>QmissenseSchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs22837972222315312TOP3BENSG00000100038.159.27199E-70.0221901gtex_brain_ba24

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
ACTR30.940.95
PSPC10.930.94
CCT50.930.93
GSPT20.920.94
ARF40.920.92
PLAA0.920.92
RAB100.920.92
YWHAQ0.920.93
ARMCX50.920.92
GLOD40.920.92
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CO2-0.81-0.86
AF347015.33-0.79-0.85
FXYD1-0.78-0.84
AF347015.31-0.78-0.84
AF347015.8-0.78-0.85
AF347015.27-0.76-0.84
MT-CYB-0.76-0.83
AF347015.21-0.75-0.84
AF347015.2-0.75-0.84
AF347015.15-0.74-0.84

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003917DNA topoisomerase type I activityIEA-
GO:0005515protein bindingIPI15231747 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006268DNA unwinding during replicationIEA-
GO:0006265DNA topological changeIEA-
GO:0007059chromosome segregationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000793condensed chromosomeIEA-
GO:0005634nucleusTAS9786843 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG HOMOLOGOUS RECOMBINATION 2817All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL UP 13378All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN UP 239157All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
GNATENKO PLATELET SIGNATURE 4828All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203130All SZGR 2.0 genes in this pathway
FAELT B CLL WITH VH3 21 UP 4430All SZGR 2.0 genes in this pathway
LEE CALORIE RESTRICTION NEOCORTEX DN 8858All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
MATZUK MEIOTIC AND DNA REPAIR 3926All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway