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	H2AFX
Previous Symbol	H2AX
Approved Name	H2A histone family, member X
Location	11q23.3
Position	chr11:118964564-118966177, -
External Links	HGNC: 4739 Entrez Gene: 3014 Ensembl: ENSG00000188486 UCSC: uc001pvg.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 25)

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

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0019899	enzyme binding	Molecular Function	IPI[19234442]	47
GO:0010212	response to ionizing radiation	Biological Process	NAS[19234442]	5
GO:0045739	positive regulation of DNA repair	Biological Process	NAS[19234442]	4
GO:0042393	histone binding	Molecular Function	IPI[19234442]	9
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0000786	nucleosome	Cellular Component		3
GO:0000781	chromosome, telomeric region	Cellular Component	IDA[15149599]	9
GO:0000724	double-strand break repair via homologous recombination	Biological Process		12
GO:0000077	DNA damage checkpoint	Biological Process	IDA[17974976]	7
GO:0006281	DNA repair	Biological Process		62
GO:0006302	double-strand break repair	Biological Process	NAS[19234442]	11
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005657	replication fork	Cellular Component		3
GO:0007126	meiosis	Biological Process		11
GO:0007283	spermatogenesis	Biological Process		35
GO:0006334	nucleosome assembly	Biological Process	NAS[2587254]	9
GO:0006974	response to DNA damage stimulus	Biological Process	IDA[15149599]	37
GO:0001673	male germ cell nucleus	Cellular Component		4
GO:0001741	XY body	Cellular Component		2
GO:0000790	nuclear chromatin	Cellular Component		11
GO:0000794	condensed nuclear chromosome	Cellular Component		6
GO:0005515	protein binding	Molecular Function		910
GO:0005634	nucleus	Cellular Component	IDA[15604234]	770
GO:0003677	DNA binding	Molecular Function	NAS[2587254]	220
GO:0003684	damaged DNA binding	Molecular Function		10

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05322	Systemic lupus erythematosus	19	Systemic lupus erythematosus (SLE) is a prototypic autoimmun...... Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particulary in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. More...

Genes shared at least 5 GO terms with H2AFX (count: 39)

Gene Symbol	Pathway Count	Pathway List
TP53BP1	10	chromosome, telomeric region; double-strand break repair via homologous recombination; DNA repair; double-strand break repair; nucleoplasm; replication fork; response to DNA damage stimulus; protein binding; nucleus; damaged DNA binding;
ATM	9	response to ionizing radiation; chromosome, telomeric region; double-strand break repair via homologous recombination; DNA repair; double-strand break repair; nucleoplasm; response to DNA damage stimulus; protein binding; DNA binding;
CHEK1	9	chromosome, telomeric region; DNA damage checkpoint; DNA repair; nucleoplasm; replication fork; response to DNA damage stimulus; condensed nuclear chromosome; protein binding; nucleus;
MRE11A	9	chromosome, telomeric region; double-strand break repair via homologous recombination; DNA repair; double-strand break repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus; DNA binding;
HINFP	8	enzyme binding; histone binding; DNA damage checkpoint; DNA repair; nucleoplasm; protein binding; nucleus; DNA binding;
RAD9A	7	enzyme binding; DNA damage checkpoint; DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
USP28	7	response to ionizing radiation; DNA damage checkpoint; DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
SMC1A	7	protein heterodimerization activity; DNA repair; nucleoplasm; meiosis; condensed nuclear chromosome; protein binding; nucleus;
RAD1	7	DNA damage checkpoint; DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus; damaged DNA binding;
FEN1	7	DNA repair; double-strand break repair; nucleoplasm; protein binding; nucleus; DNA binding; damaged DNA binding;
NCOA6	6	enzyme binding; DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
APBB1	6	positive regulation of DNA repair; histone binding; double-strand break repair; response to DNA damage stimulus; protein binding; nucleus;
ERCC8	6	positive regulation of DNA repair; DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
RCC1	6	histone binding; nucleoplasm; nuclear chromatin; condensed nuclear chromosome; protein binding; nucleus;
SMC3	6	protein heterodimerization activity; DNA repair; nucleoplasm; meiosis; protein binding; nucleus;
RBBP8	6	double-strand break repair via homologous recombination; DNA repair; meiosis; protein binding; nucleus; damaged DNA binding;
DDB1	6	DNA repair; nucleoplasm; protein binding; nucleus; DNA binding; damaged DNA binding;
RAD23B	6	DNA repair; nucleoplasm; spermatogenesis; protein binding; nucleus; damaged DNA binding;
XRCC5	6	DNA repair; double-strand break repair; nucleoplasm; protein binding; nucleus; DNA binding;
CCND1	5	enzyme binding; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
HMGA1	5	enzyme binding; nucleoplasm; protein binding; nucleus; DNA binding;
KDM1A	5	enzyme binding; nucleoplasm; nuclear chromatin; protein binding; nucleus;
NR5A1	5	enzyme binding; nucleoplasm; protein binding; nucleus; DNA binding;
PGR	5	enzyme binding; nucleoplasm; protein binding; nucleus; DNA binding;
ASF1A	5	histone binding; DNA repair; nucleosome assembly; protein binding; nucleus;
RSF1	5	histone binding; nucleoplasm; nucleosome assembly; protein binding; nucleus;
BARD1	5	protein heterodimerization activity; DNA repair; response to DNA damage stimulus; protein binding; nucleus;
H2AFY	5	protein heterodimerization activity; nucleosome; nucleosome assembly; protein binding; DNA binding;
TAF13	5	protein heterodimerization activity; nucleoplasm; protein binding; nucleus; DNA binding;
FAN1	5	double-strand break repair via homologous recombination; DNA repair; protein binding; nucleus; DNA binding;
PALB2	5	double-strand break repair via homologous recombination; DNA repair; nucleoplasm; protein binding; DNA binding;
CHD1L	5	DNA repair; response to DNA damage stimulus; protein binding; nucleus; DNA binding;
HERC2	5	DNA repair; spermatogenesis; response to DNA damage stimulus; protein binding; nucleus;
MEN1	5	DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
SSRP1	5	DNA repair; nucleoplasm; protein binding; nucleus; DNA binding;
TRIP12	5	DNA repair; nucleoplasm; response to DNA damage stimulus; protein binding; nucleus;
XPA	5	DNA repair; nucleoplasm; protein binding; nucleus; damaged DNA binding;
IRF7	5	nucleoplasm; response to DNA damage stimulus; protein binding; nucleus; DNA binding;
MAPK1	5	nucleoplasm; response to DNA damage stimulus; protein binding; nucleus; DNA binding;

Genes shared at least 2 KEGG pathways with H2AFX (count: 0)

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Region: chr11:118964564..118966177 View in gBrowse