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	GTF2H3
Symbol Alias	BTF2, TFIIH
Approved Name	general transcription factor IIH, polypeptide 3, 34kDa
Previous Name	general transcription factor IIH, polypeptide 3 (34kD subunit)
Location	12q24.31
Position	chr12:124118380-124145620, +
External Links	HGNC: 4657 Entrez Gene: 2967 Ensembl: ENSG00000111358 UCSC: uc001ufo.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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_26	chr12:122465458-124605386 (NCBI36 / hg18)	2139929	12q24.31-12q24.32	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 29)

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

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005654	nucleoplasm	Cellular Component		183
GO:0004672	protein kinase activity	Molecular Function	IDA[9852112]	27
GO:0006281	DNA repair	Biological Process		62
GO:0005675	holo TFIIH complex	Cellular Component	IDA[9852112]	2
GO:0006289	nucleotide-excision repair	Biological Process		12
GO:0006283	transcription-coupled nucleotide-excision repair	Biological Process		6
GO:0006360	transcription from RNA polymerase I promoter	Biological Process		6
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0000718	nucleotide-excision repair, DNA damage removal	Biological Process		4
GO:0000439	core TFIIH complex	Cellular Component		1
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0003684	damaged DNA binding	Molecular Function		10
GO:0050434	positive regulation of viral transcription	Biological Process		6
GO:0008135	translation factor activity, nucleic acid binding	Molecular Function	TAS[8194529]	3
GO:0008353	RNA polymerase II carboxy-terminal domain kinase activity	Molecular Function	IDA[9852112]	3
GO:0006468	protein phosphorylation	Biological Process	IDA[9852112]	53
GO:0008094	DNA-dependent ATPase activity	Molecular Function	IDA[9852112]	4
GO:0046872	metal ion binding	Molecular Function		170
GO:0047485	protein N-terminus binding	Molecular Function	IPI[8652557]	23
GO:0010467	gene expression	Biological Process		140
GO:0016032	viral reproduction	Biological Process		57
GO:0006363	termination of RNA polymerase I transcription	Biological Process		4
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	IDA[9852112]	62
GO:0006361	transcription initiation from RNA polymerase I promoter	Biological Process		6
GO:0006362	transcription elongation from RNA polymerase I promoter	Biological Process		4
GO:0006370	7-methylguanosine mRNA capping	Biological Process		3
GO:0006412	translation	Biological Process	TAS[8194529]	42
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0006368	transcription elongation from RNA polymerase II promoter	Biological Process		10

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03022	Basal transcription factors	6
hsa03420	Nucleotide excision repair	9	Nucleotide excision repair (NER) is a mechanism to recognize...... Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar. More...

Genes shared at least 5 GO terms with GTF2H3 (count: 19)

Gene Symbol	Pathway Count	Pathway List
POLR2G	13	nucleoplasm; protein kinase activity; DNA repair; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; positive regulation of viral transcription; protein phosphorylation; gene expression; viral reproduction; transcription from RNA polymerase II promoter; 7-methylguanosine mRNA capping; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
SSRP1	8	nucleoplasm; DNA repair; regulation of transcription, DNA-dependent; positive regulation of viral transcription; gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
TAF1B	8	nucleoplasm; transcription from RNA polymerase I promoter; sequence-specific DNA binding transcription factor activity; metal ion binding; gene expression; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter;
TAF1C	8	nucleoplasm; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; gene expression; termination of RNA polymerase I transcription; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter;
TAF4B	8	nucleoplasm; regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
NCBP1	7	nucleoplasm; positive regulation of viral transcription; gene expression; viral reproduction; transcription from RNA polymerase II promoter; 7-methylguanosine mRNA capping; transcription elongation from RNA polymerase II promoter;
TAF10	7	nucleoplasm; sequence-specific DNA binding transcription factor activity; gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
TAF13	7	nucleoplasm; sequence-specific DNA binding transcription factor activity; gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
POLR1A	6	nucleoplasm; transcription from RNA polymerase I promoter; gene expression; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter;
TCEB1	6	nucleoplasm; positive regulation of viral transcription; gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter;
XPA	6	nucleoplasm; DNA repair; nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; damaged DNA binding; metal ion binding;
DDB1	5	nucleoplasm; DNA repair; nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; damaged DNA binding;
ERCC8	5	nucleoplasm; DNA repair; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA-dependent ATPase activity;
MAPK3	5	nucleoplasm; transcription from RNA polymerase I promoter; protein phosphorylation; gene expression; transcription initiation from RNA polymerase I promoter;
MEN1	5	nucleoplasm; DNA repair; protein N-terminus binding; gene expression; transcription initiation from RNA polymerase II promoter;
NCOR1	5	nucleoplasm; sequence-specific DNA binding transcription factor activity; gene expression; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter;
RAD23B	5	nucleoplasm; DNA repair; nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; damaged DNA binding;
UBB	5	nucleoplasm; DNA repair; gene expression; viral reproduction; transcription initiation from RNA polymerase II promoter;
UBC	5	nucleoplasm; DNA repair; gene expression; viral reproduction; transcription initiation from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with GTF2H3 (count: 0)

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Region: chr12:124118380..124145620 View in gBrowse