Gene Page: TBX6

Summary ?
GeneID6911
SymbolTBX6
SynonymsSCDO5
DescriptionT-box 6
ReferenceMIM:602427|HGNC:HGNC:11605|Ensembl:ENSG00000149922|HPRD:03888|Vega:OTTHUMG00000132115
Gene typeprotein-coding
Map location16p11.2
Pascal p-value2.368E-6
Fetal beta-0.828
DMG1 (# studies)
eGeneCaudate basal ganglia
Cortex
Frontal Cortex BA9
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg054173321630104025YPEL3;TBX67.11E-5-0.4620.025DMG:Wockner_2014
cg092786871630100430TBX62.369E-4-0.3820.037DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1578978chr8118196802TBX669110.12trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003700transcription factor activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001707mesoderm formationIEA-
GO:0001708cell fate specificationIEA-
GO:0006355regulation of transcription, DNA-dependentIEA-
GO:0009653anatomical structure morphogenesisTAS9888994 
GO:0007498mesoderm developmentTAS9933572 
GO:0007275multicellular organismal developmentIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
BALLIF DEVELOPMENTAL DISABILITY P16 P12 DELETION 138All 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
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
SHEPARD BMYB MORPHOLINO UP 205126All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
LEE AGING CEREBELLUM UP 8458All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718401All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway