ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	TBX1
Approved Name	T-box 1
Location	22q11.21
Position	chr22:19744226-19771116, +
External Links	HGNC: 11592 Entrez Gene: 6899 Ensembl: ENSG00000184058 UCSC: uc002zqa.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_41	chr22:17616020-19792353 (NCBI36 / hg18)	2176334	22q11.21	dup
CNV_Jarick[2012]_40	chr22:17257787-19792353 (NCBI36 / hg18)	2534567	22q11.21	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 69)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 69)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0060982	coronary artery morphogenesis	Biological Process		2
GO:0070166	enamel mineralization	Biological Process		2
GO:0071300	cellular response to retinoic acid	Biological Process		7
GO:0071600	otic vesicle morphogenesis	Biological Process		1
GO:0060023	soft palate development	Biological Process	IMP[14585638]	2
GO:0060037	pharyngeal system development	Biological Process	IMP[14585638]	5
GO:0060325	face morphogenesis	Biological Process		5
GO:0060415	muscle tissue morphogenesis	Biological Process		1
GO:2001037	positive regulation of tongue muscle cell differentiation	Biological Process		1
GO:2001054	negative regulation of mesenchymal cell apoptotic process	Biological Process		1
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	Biological Process		1
GO:0090103	cochlea morphogenesis	Biological Process		2
GO:0097152	mesenchymal cell apoptotic process	Biological Process		1
GO:2000027	regulation of organ morphogenesis	Biological Process		1
GO:0048514	blood vessel morphogenesis	Biological Process		4
GO:0048384	retinoic acid receptor signaling pathway	Biological Process		2
GO:0046983	protein dimerization activity	Molecular Function	TAS[17273972]	26
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IDA[17273972]	80
GO:0045596	negative regulation of cell differentiation	Biological Process		2
GO:0044344	cellular response to fibroblast growth factor stimulus	Biological Process		3
GO:0043587	tongue morphogenesis	Biological Process		1
GO:0060017	parathyroid gland development	Biological Process	IMP[14585638]	4
GO:0050679	positive regulation of epithelial cell proliferation	Biological Process		9
GO:0048844	artery morphogenesis	Biological Process		9
GO:0048752	semicircular canal morphogenesis	Biological Process		3
GO:0048703	embryonic viscerocranium morphogenesis	Biological Process	IMP[14585638]	5
GO:0048701	embryonic cranial skeleton morphogenesis	Biological Process		3
GO:0048644	muscle organ morphogenesis	Biological Process		2
GO:0048538	thymus development	Biological Process	IMP[14585638]	14
GO:0035909	aorta morphogenesis	Biological Process		1
GO:0042471	ear morphogenesis	Biological Process		3
GO:0030878	thyroid gland development	Biological Process		7
GO:0035176	social behavior	Biological Process		9
GO:0021644	vagus nerve morphogenesis	Biological Process		1
GO:0030855	epithelial cell differentiation	Biological Process		7
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0009952	anterior/posterior pattern specification	Biological Process		26
GO:0043410	positive regulation of MAPK cascade	Biological Process		17
GO:0043565	sequence-specific DNA binding	Molecular Function	IDA[11111039]	72
GO:0042693	muscle cell fate commitment	Biological Process		2
GO:0042803	protein homodimerization activity	Molecular Function	IDA[11111039]	113
GO:0042474	middle ear morphogenesis	Biological Process		4
GO:0042475	odontogenesis of dentin-containing tooth	Biological Process		8
GO:0042472	inner ear morphogenesis	Biological Process		6
GO:0042473	outer ear morphogenesis	Biological Process		2
GO:0006357	regulation of transcription from RNA polymerase II promoter	Biological Process	NAS[9268629]	42
GO:0007368	determination of left/right symmetry	Biological Process		7
GO:0007389	pattern specification process	Biological Process		13
GO:0007498	mesoderm development	Biological Process		9
GO:0007507	heart development	Biological Process	IMP[14585638]	23
GO:0007517	muscle organ development	Biological Process		16
GO:0007605	sensory perception of sound	Biological Process		31
GO:0008283	cell proliferation	Biological Process		60
GO:0002053	positive regulation of mesenchymal cell proliferation	Biological Process		9
GO:0003007	heart morphogenesis	Biological Process		5
GO:0003148	outflow tract septum morphogenesis	Biological Process		3
GO:0003151	outflow tract morphogenesis	Biological Process		12
GO:0003677	DNA binding	Molecular Function	IDA[17273972]	220
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	IDA[11111039]	132
GO:0005634	nucleus	Cellular Component	IDA[15703190]	770
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0001525	angiogenesis	Biological Process		35
GO:0001708	cell fate specification	Biological Process		4
GO:0001568	blood vessel development	Biological Process		5
GO:0001934	positive regulation of protein phosphorylation	Biological Process		22
GO:0001755	neural crest cell migration	Biological Process		6
GO:0001974	blood vessel remodeling	Biological Process		7
GO:0001945	lymph vessel development	Biological Process		3

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TBX1 (count: 76)

Gene Symbol	Pathway Count	Pathway List
VEGFA	14	coronary artery morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; artery morphogenesis; epithelial cell differentiation; positive regulation of cell proliferation; protein homodimerization activity; regulation of transcription from RNA polymerase II promoter; mesoderm development; positive regulation of mesenchymal cell proliferation; heart morphogenesis; outflow tract morphogenesis; angiogenesis; positive regulation of protein phosphorylation;
FGF10	12	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; thymus development; thyroid gland development; positive regulation of MAPK cascade; muscle cell fate commitment; odontogenesis of dentin-containing tooth; determination of left/right symmetry; nucleus; angiogenesis; blood vessel remodeling;
HES1	11	pharyngeal system development; positive regulation of transcription from RNA polymerase II promoter; artery morphogenesis; thymus development; positive regulation of cell proliferation; sequence-specific DNA binding; protein homodimerization activity; outflow tract morphogenesis; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
TFAP2A	11	face morphogenesis; protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; embryonic cranial skeleton morphogenesis; sequence-specific DNA binding; protein homodimerization activity; inner ear morphogenesis; sensory perception of sound; outflow tract morphogenesis; nucleus;
HOXA3	11	parathyroid gland development; thymus development; thyroid gland development; positive regulation of cell proliferation; anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent; angiogenesis; blood vessel remodeling;
FOXE1	10	soft palate development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; thymus development; thyroid gland development; sequence-specific DNA binding; pattern specification process; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
TGFBR1	10	pharyngeal system development; positive regulation of transcription, DNA-dependent; parathyroid gland development; artery morphogenesis; embryonic cranial skeleton morphogenesis; thymus development; positive regulation of cell proliferation; anterior/posterior pattern specification; heart development; angiogenesis;
HOXA1	10	cochlea morphogenesis; positive regulation of transcription from RNA polymerase II promoter; artery morphogenesis; anterior/posterior pattern specification; sequence-specific DNA binding; outer ear morphogenesis; sensory perception of sound; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
FOXC2	10	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; artery morphogenesis; embryonic viscerocranium morphogenesis; sequence-specific DNA binding; mesoderm development; heart development; sequence-specific DNA binding transcription factor activity; nucleus; blood vessel remodeling;
FOXF1	10	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; sequence-specific DNA binding; determination of left/right symmetry; pattern specification process; heart development; positive regulation of mesenchymal cell proliferation; DNA binding; nucleus; blood vessel development;
ISL1	8	pharyngeal system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; outflow tract septum morphogenesis; outflow tract morphogenesis; sequence-specific DNA binding transcription factor activity; nucleus; neural crest cell migration;
SREBF1	8	protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
ETS1	8	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HNF1B	8	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; anterior/posterior pattern specification; sequence-specific DNA binding; protein homodimerization activity; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
HOXA2	8	positive regulation of transcription from RNA polymerase II promoter; embryonic viscerocranium morphogenesis; anterior/posterior pattern specification; sequence-specific DNA binding; middle ear morphogenesis; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA5	8	positive regulation of transcription from RNA polymerase II promoter; thyroid gland development; anterior/posterior pattern specification; sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXB1	8	positive regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; sequence-specific DNA binding; pattern specification process; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
IKZF1	8	positive regulation of transcription from RNA polymerase II promoter; thymus development; sequence-specific DNA binding; mesoderm development; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
LHX1	8	positive regulation of transcription, DNA-dependent; cellular response to fibroblast growth factor stimulus; embryonic viscerocranium morphogenesis; anterior/posterior pattern specification; sequence-specific DNA binding; pattern specification process; sequence-specific DNA binding transcription factor activity; nucleus;
NIPBL	7	face morphogenesis; embryonic viscerocranium morphogenesis; ear morphogenesis; sensory perception of sound; heart morphogenesis; outflow tract morphogenesis; nucleus;
ERBB2	7	protein dimerization activity; positive regulation of epithelial cell proliferation; heart development; cell proliferation; nucleus; transcription, DNA-dependent; positive regulation of protein phosphorylation;
POU2F3	7	protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA13	7	positive regulation of transcription from RNA polymerase II promoter; artery morphogenesis; sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA7	7	positive regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent; angiogenesis;
LHX2	7	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; sequence-specific DNA binding; mesoderm development; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
RELA	7	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
FLT4	6	blood vessel morphogenesis; positive regulation of cell proliferation; positive regulation of MAPK cascade; nucleus; positive regulation of protein phosphorylation; lymph vessel development;
EBF1	6	protein dimerization activity; positive regulation of transcription, DNA-dependent; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HEY2	6	protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; outflow tract morphogenesis; sequence-specific DNA binding transcription factor activity; nucleus;
NPAS3	6	protein dimerization activity; positive regulation of transcription, DNA-dependent; social behavior; DNA binding; nucleus; transcription, DNA-dependent;
FOXD4	6	positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; pattern specification process; sequence-specific DNA binding transcription factor activity; nucleus; neural crest cell migration;
FOXP1	6	positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; protein homodimerization activity; pattern specification process; positive regulation of mesenchymal cell proliferation; nucleus;
KDM1A	6	positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; cell proliferation; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
MYB	6	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; thymus development; DNA binding; sequence-specific DNA binding transcription factor activity; transcription, DNA-dependent;
RBPJ	6	positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; angiogenesis;
MAPK1	6	positive regulation of transcription, DNA-dependent; negative regulation of cell differentiation; positive regulation of cell proliferation; DNA binding; nucleus; transcription, DNA-dependent;
ZBTB16	6	positive regulation of transcription, DNA-dependent; anterior/posterior pattern specification; protein homodimerization activity; DNA binding; nucleus; transcription, DNA-dependent;
FGF9	6	positive regulation of epithelial cell proliferation; positive regulation of cell proliferation; positive regulation of MAPK cascade; inner ear morphogenesis; positive regulation of mesenchymal cell proliferation; angiogenesis;
HOXB3	6	thyroid gland development; anterior/posterior pattern specification; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent; angiogenesis;
FOXL1	6	sequence-specific DNA binding; pattern specification process; heart development; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
FOXP2	6	sequence-specific DNA binding; protein homodimerization activity; pattern specification process; positive regulation of mesenchymal cell proliferation; DNA binding; sequence-specific DNA binding transcription factor activity;
SNW1	5	cellular response to retinoic acid; retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; nucleus;
WNT11	5	cellular response to retinoic acid; positive regulation of transcription, DNA-dependent; artery morphogenesis; anterior/posterior pattern specification; outflow tract morphogenesis;
CLOCK	5	protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus;
HES6	5	protein dimerization activity; regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; transcription, DNA-dependent;
NPAS2	5	protein dimerization activity; positive regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; transcription, DNA-dependent;
BSX	5	positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
CDON	5	positive regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; positive regulation of MAPK cascade; cell fate specification; positive regulation of protein phosphorylation;
FGF4	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; odontogenesis of dentin-containing tooth; nucleus; positive regulation of protein phosphorylation;
FOXG1	5	positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; inner ear morphogenesis; DNA binding; nucleus;
IL6	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; positive regulation of cell proliferation; positive regulation of MAPK cascade;
LRP5	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; anterior/posterior pattern specification; positive regulation of mesenchymal cell proliferation;
MLL	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein homodimerization activity; sequence-specific DNA binding transcription factor activity; nucleus;
ONECUT2	5	positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HINFP	5	positive regulation of transcription, DNA-dependent; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HMGA1	5	positive regulation of transcription, DNA-dependent; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA11	5	positive regulation of transcription, DNA-dependent; anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; transcription, DNA-dependent;
ZNF287	5	positive regulation of transcription, DNA-dependent; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
CRKL	5	parathyroid gland development; thymus development; anterior/posterior pattern specification; heart development; blood vessel development;
TH	5	social behavior; heart development; sensory perception of sound; heart morphogenesis; nucleus;
HOXA4	5	anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA6	5	anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
HOXA9	5	anterior/posterior pattern specification; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
ATF6	5	sequence-specific DNA binding; regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
CREBZF	5	sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
DRAP1	5	sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
GSC2	5	sequence-specific DNA binding; regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
IRX3	5	sequence-specific DNA binding; mesoderm development; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
PKNOX2	5	sequence-specific DNA binding; regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
RAX	5	sequence-specific DNA binding; pattern specification process; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
ZNF24	5	sequence-specific DNA binding; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
SP4	5	regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
TBX10	5	regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
ZNF367	5	regulation of transcription from RNA polymerase II promoter; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;
TBX6	5	mesoderm development; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; cell fate specification;
TCF25	5	heart development; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent;

Genes shared at least 2 KEGG pathways with TBX1 (count: 0)

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Region: chr22:19744226..19771116 View in gBrowse