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	HIRA
Previous Symbol	TUPLE1
Symbol Alias	DGCR1, TUP1
Approved Name	HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
Previous Name	HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)
Name Alias	DiGeorge critical region gene 1
Location	22q11.2
Position	chr22:19318221-19434973, -
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:0000790	nuclear chromatin	Cellular Component		11
GO:0003682	chromatin binding	Molecular Function		48
GO:0001649	osteoblast differentiation	Biological Process		9
GO:0003714	transcription corepressor activity	Molecular Function	TAS[9731536]	29
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	TAS[9731536]	132
GO:0005634	nucleus	Cellular Component	TAS[9710638]	770
GO:0005515	protein binding	Molecular Function	IPI[9710638]	910
GO:0007369	gastrulation	Biological Process		3
GO:0009653	anatomical structure morphogenesis	Biological Process	TAS[7633437]	26
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0006357	regulation of transcription from RNA polymerase II promoter	Biological Process	TAS[9731536]	42
GO:0042692	muscle cell differentiation	Biological Process		8
GO:0016568	chromatin modification	Biological Process		16
GO:0016605	PML body	Cellular Component		10

Gene related KEGG pathways (count: 0)

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

Gene Symbol	Pathway Count	Pathway List
NCOR1	8	nuclear chromatin; chromatin binding; transcription corepressor activity; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent; chromatin modification;
KDM1A	7	nuclear chromatin; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
ASF1A	7	chromatin binding; osteoblast differentiation; nucleus; protein binding; transcription, DNA-dependent; muscle cell differentiation; chromatin modification;
SMARCD3	6	nuclear chromatin; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; muscle cell differentiation;
SREBF1	6	chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
HINFP	5	chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent;
NCOR2	5	chromatin binding; transcription corepressor activity; nucleus; protein binding; transcription, DNA-dependent;
PRKCB	5	chromatin binding; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
ELK3	5	transcription corepressor activity; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent;
NEUROD2	5	transcription corepressor activity; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
NPAT	5	transcription corepressor activity; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent;
SAP18	5	transcription corepressor activity; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
ATF6	5	sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
HOXA1	5	sequence-specific DNA binding transcription factor activity; nucleus; protein binding; anatomical structure morphogenesis; transcription, DNA-dependent;
POU2F3	5	sequence-specific DNA binding transcription factor activity; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
TBX10	5	sequence-specific DNA binding transcription factor activity; nucleus; anatomical structure morphogenesis; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;

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

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Region: chr22:19318221..19434973 View in gBrowse