Gene Name	TBX1
Gene ID	6899
Gene Full Name	T-box transcription factor 1
Gene Alias	CAFS|CATCH22|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCF|VCFS
Transcripts	ENSG00000184058
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Nuclear bodies, Cytoplasmic bodies;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Uniport_ID	O43435
HGNC ID	HGNC:11592
OMIM ID	602054
Summary	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
5017448	chr22	123	8	0	131	View
5017449	chr22	39	15	38	92	View

Data ID	Experiment type	Sample number	Platform
C   GSE183048	Chip-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE40774	Expression array	134	Agilent-026652 Whole Human Genome Microarray 4x44K v2 (Probe Name version)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
S   GSE164690	scRNA-seq	51	Illumina NextSeq 500 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• scRNA data
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.

> Dataset: GSE164690 - Gene expression in cell subsets