Gene Page: TBX5

Summary ?
GeneID6910
SymbolTBX5
SynonymsHOS
DescriptionT-box 5
ReferenceMIM:601620|HGNC:HGNC:11604|Ensembl:ENSG00000089225|HPRD:03372|Vega:OTTHUMG00000166191
Gene typeprotein-coding
Map location12q24.1
Pascal p-value0.992
Fetal beta0.143
DMG1 (# studies)
eGeneCerebellum
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
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

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
TBX5chr12114804166GANM_000192
NM_080717
NM_181486		.
.
.		silent
silent
silent		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg2332086212114843932TBX57.77E-8-0.0261.83E-5DMG:Jaffe_2016


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
CCT80.970.97
CCT6A0.970.96
POLR2B0.960.95
NOL110.960.95
HSF20.960.96
RFWD20.960.95
TEX100.960.95
CSE1L0.960.95
GDI20.950.96
CDC5L0.950.94
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.31-0.76-0.88
MT-CO2-0.76-0.88
AF347015.33-0.76-0.88
AF347015.27-0.75-0.87
HLA-F-0.75-0.82
MT-CYB-0.75-0.87
AIFM3-0.74-0.81
AF347015.8-0.74-0.88
AF347015.15-0.73-0.87
AF347015.2-0.72-0.89

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME YAP1 AND WWTR1 TAZ STIMULATED GENE EXPRESSION 2416All SZGR 2.0 genes in this pathway
REACTOME GENERIC TRANSCRIPTION PATHWAY 352181All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
INGRAM SHH TARGETS UP 12779All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652441All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
KRASNOSELSKAYA ILF3 TARGETS UP 3824All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR DN 10164All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
KONDO PROSTATE CANCER HCP WITH H3K27ME3 9772All SZGR 2.0 genes in this pathway
CHENG IMPRINTED BY ESTRADIOL 11068All SZGR 2.0 genes in this pathway
BRUNEAU SEPTATION VENTRICULAR 108All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN IPS WITH HCP H3K27ME3 10276All SZGR 2.0 genes in this pathway
MIKKELSEN ES HCP WITH H3K27ME3 4130All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR UP 6144All SZGR 2.0 genes in this pathway