ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	HIRA
Previous Symbol	TUPLE1
Symbol Alias	DGCR1, TUP1
Approved Name	histone cell cycle regulator
Previous Name	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"
Name Alias	"DiGeorge critical region gene 1"
Location	22q11.2
Position	chr22:19318221-19435224, -1
External Links	HGNC: 4916 Entrez Gene: 7290 Ensembl: ENSG00000100084 UCSC: uc002zpf.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: 14)

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

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001649	osteoblast differentiation	biological process	IEA	10
GO:0006351	transcription, DNA-dependent	biological process	IEA	281
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	TAS[9731536]	148
GO:0005634	nucleus	cellular component	TAS[9710638]	877
GO:0007369	gastrulation	biological process	IEA	3
GO:0003682	chromatin binding	molecular function	IEA	50
GO:0042692	muscle cell differentiation	biological process	IEA	9
GO:0003714	transcription corepressor activity	molecular function	TAS[9731536]	33
GO:0016605	PML body	cellular component	IEA	14
GO:0005515	protein binding	molecular function	IPI[9710638]	1015
GO:0009653	anatomical structure morphogenesis	biological process	TAS[7633437]	28
GO:0016568	chromatin modification	biological process	IEA	19
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	TAS[9731536]	46
GO:0000790	nuclear chromatin	cellular component	IEA	12

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with HIRA (count: 16)

Gene Symbol	Pathway Count	Pathway List
ASF1A	7	osteoblast differentiation; transcription, DNA-dependent; nucleus; chromatin binding; muscle cell differentiation; protein binding; chromatin modification;
KDM1A	7	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; chromatin binding; protein binding; regulation of transcription from RNA polymerase II promoter; nuclear chromatin;
SMARCD3	6	transcription, DNA-dependent; nucleus; muscle cell differentiation; protein binding; regulation of transcription from RNA polymerase II promoter; nuclear chromatin;
SREBF1	6	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; chromatin binding; protein binding; regulation of transcription from RNA polymerase II promoter;
UBN1	6	sequence-specific DNA binding transcription factor activity; nucleus; PML body; protein binding; chromatin modification; regulation of transcription from RNA polymerase II promoter;
TBX10	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; anatomical structure morphogenesis; regulation of transcription from RNA polymerase II promoter;
HOXA1	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; anatomical structure morphogenesis;
SAP18	5	transcription, DNA-dependent; nucleus; transcription corepressor activity; protein binding; regulation of transcription from RNA polymerase II promoter;
POU2F3	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; regulation of transcription from RNA polymerase II promoter;
NPAT	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; transcription corepressor activity; protein binding;
HINFP	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; chromatin binding; protein binding;
ATF6	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; regulation of transcription from RNA polymerase II promoter;
NEUROD2	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; transcription corepressor activity; regulation of transcription from RNA polymerase II promoter;
ELK3	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; transcription corepressor activity; protein binding;
NCOR2	5	transcription, DNA-dependent; nucleus; chromatin binding; transcription corepressor activity; protein binding;
CREBBP	5	sequence-specific DNA binding transcription factor activity; nucleus; chromatin binding; protein binding; nuclear chromatin;

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

View in gBrowse

Region: chr22:19318221..19435224 View in gBrowse