Hs02968247_cn

• Gene Symbol: TBX1
• Assay Reference Genome Location: Chr.22:19764954 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 6899
• Gene Name: T-box 1
• Gene Aliases: CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
• Location: Chr.22:19756703-19783593 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBX1	NM_005992.1			NP_005983.1
	NM_080646.1			NP_542377.1
	NM_080647.1			NP_542378.1
	XM_006724312.2			XP_006724375.1
	XM_017028925.1			XP_016884414.1
	XM_017028926.1			XP_016884415.1
	XM_017028927.1	1	617	XP_016884416.1
	XM_017028928.1			XP_016884417.1
	AF012130.1			AAB94018.1
	AF012131.1			AAB94019.1
	AF373867.1			AAK58955.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TXNRD2 LOC284865 MIR185 LOC101927859 DGCR6L SEPT5-GP1BB SEPT5 GP1BB MIR3618 CCDC188 RANBP1 LINC00895 DGCR8 MIR4761 C22orf29 CDC45 LINC00896 ZDHHC8 GNB1L TANGO2 LOC440792 RTN4R TRMT2A UFD1L CLDN5 TBX1 ARVCF MIR1306 COMT MIR6816 MIR1286
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TXNRD2 LOC284865 MIR185 DGCR6L SEPT5-GP1BB SEPT5 GP1BB MIR3618 CCDC188 RANBP1 DGCR8 MIR4761 C22orf29 LINC00896 ZDHHC8 GNB1L TANGO2 LOC440792 RTN4R TRMT2A TBX1 ARVCF MIR1306 COMT MIR6816 MIR1286
dgv7982n54	Chr.22:19750832 - 19770876 on Build GRCh38	Loss	TBX1
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TXNRD2 LINC00896 LOC284865 ZDHHC8 MIR185 GNB1L TANGO2 LOC440792 RTN4R DGCR6L TRMT2A MIR3618 CCDC188 TBX1 ARVCF MIR1306 RANBP1 COMT MIR6816 DGCR8 MIR4761 MIR1286 C22orf29
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CDC45 CLTCL1 SLC25A1 DGCR2 GNB1L SEPT5-GP1BB DGCR14 MRPL40 SEPT5 GP1BB C22orf39 UFD1L CLDN5 TBX1 GSC2 LINC01311 HIRA LINC00895 TSSK2
esv3575428	Chr.22:19732005 - 19767158 on Build GRCh38	Gain	TBX1
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TXNRD2 TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB C22orf29
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB
nsv828947	Chr.22:19761471 - 19765098 on Build GRCh38	Gain	TBX1
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TXNRD2 LOC284865 MIR185 DGCR6L SEPT5-GP1BB SEPT5 GP1BB MIR3618 CCDC188 RANBP1 DGCR8 MIR4761 C22orf29 LINC00896 ZDHHC8 GNB1L TANGO2 LOC440792 RTN4R TRMT2A TBX1 ARVCF MIR1306 COMT MIR6816 MIR1286
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
nsv953023	Chr.22:19716878 - 19770977 on Build GRCh38	Deletion	TBX1 SEPT5-GP1BB SEPT5 GP1BB
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	TBX1 GNB1L SEPT5-GP1BB SEPT5 GP1BB
nsv828946	Chr.22:19753679 - 19768165 on Build GRCh38	Gain	TBX1
esv2751940	Chr.22:19435727 - 19779259 on Build GRCh38	Gain	C22orf39 UFD1L CLDN5 CDC45 TBX1 SEPT5-GP1BB LINC00895 MRPL40 SEPT5 GP1BB
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC642643 TXNRD2 LOC100996401 DGCR2 DGCR6 PRODH DGCR9 DGCR11 DGCR5 SEPT5-GP1BB DGCR14 LOC100996432 MRPL40 FAM230A SEPT5 GP1BB TMEM191B GSC2 LOC102725072 HIRA LINC00895 MIR4761 C22orf29 DGCR10 CDC45 CLTCL1 SLC25A1 GNB1L LOC100996415 LOC729461 RIMBP3 C22orf39 UFD1L CLDN5 TBX1 LINC01311 COMT GGT3P PI4KAP1 USP18 TSSK2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

Rel homology transcription factor

Gene Ontology Categories:

Process(es)

angiogenesis
blood vessel development
cell fate specification
neural crest cell migration
positive regulation of protein phosphorylation
lymph vessel development
positive regulation of mesenchymal cell proliferation
heart morphogenesis
outflow tract septum morphogenesis
outflow tract morphogenesis
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
determination of left/right symmetry
pattern specification process
mesoderm development
heart development
muscle organ development
sensory perception of sound
cell proliferation
positive regulation of cell proliferation
anterior/posterior pattern specification
vagus nerve morphogenesis
epithelial cell differentiation
thyroid gland development
social behavior
aorta morphogenesis
ear morphogenesis
inner ear morphogenesis
outer ear morphogenesis
middle ear morphogenesis
odontogenesis of dentin-containing tooth
muscle cell fate commitment
positive regulation of MAPK cascade
tongue morphogenesis
cellular response to fibroblast growth factor stimulus
negative regulation of cell differentiation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
retinoic acid receptor signaling pathway
blood vessel morphogenesis
thymus development
muscle organ morphogenesis
embryonic cranial skeleton morphogenesis
embryonic viscerocranium morphogenesis
semicircular canal morphogenesis
artery morphogenesis
positive regulation of epithelial cell proliferation
parathyroid gland development
soft palate development
pharyngeal system development
face morphogenesis
muscle tissue morphogenesis
coronary artery morphogenesis
enamel mineralization
cellular response to retinoic acid
cochlea morphogenesis
mesenchymal cell apoptotic process
regulation of organ morphogenesis
positive regulation of tongue muscle cell differentiation
negative regulation of mesenchymal cell apoptotic process

Function(s)

transcription factor activity, sequence-specific DNA binding
protein homodimerization activity
sequence-specific DNA binding