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	DAXX
Symbol Alias	DAP6
Approved Name	death-domain associated protein
Previous Name	death-associated protein 6
Location	6p21.3
Position	chr6:33286335-33297046, -
External Links	HGNC: 2681 Entrez Gene: 1616 Ensembl: ENSG00000204209 UCSC: uc011dre.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 0)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs1059231	Chr6:33288271(Fwd)	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs2239839	Chr6:33288075(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant

Gene related CNVs (count: 0)

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: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0035257	nuclear hormone receptor binding	Molecular Function		30

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	Biological Process	TAS[9215629]	2
GO:0008134	transcription factor binding	Molecular Function	IDA[10698492]	38
GO:0007257	activation of JUN kinase activity	Biological Process	TAS[9215629]	8
GO:0006917	induction of apoptosis	Biological Process		31
GO:0006915	apoptotic process	Biological Process	TAS[15572661]	111
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IDA[15878163]	158
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component	TAS[15572661]	690
GO:0005730	nucleolus	Cellular Component		243
GO:0005634	nucleus	Cellular Component	IDA[15878163]; IMP[10698492]	770
GO:0005515	protein binding	Molecular Function		910
GO:0005057	receptor signaling protein activity	Molecular Function	TAS[9215629]	9
GO:0002039	p53 binding	Molecular Function	IPI[16845383]	11
GO:0000792	heterochromatin	Cellular Component		1
GO:0000775	chromosome, centromeric region	Cellular Component		9
GO:0047485	protein N-terminus binding	Molecular Function	IPI[18566590]	23
GO:0050681	androgen receptor binding	Molecular Function	IPI[15572661]	10
GO:0042803	protein homodimerization activity	Molecular Function	IDA[10698492]	113
GO:0045892	negative regulation of transcription, DNA-dependent	Biological Process	IDA[10698492]	64
GO:0031625	ubiquitin protein ligase binding	Molecular Function	IPI[16845383]	23
GO:0031072	heat shock protein binding	Molecular Function	TAS[15572661]	10
GO:0031396	regulation of protein ubiquitination	Biological Process	IDA[18566590]	3
GO:0019899	enzyme binding	Molecular Function	IPI[16845383]	47
GO:0030521	androgen receptor signaling pathway	Biological Process	IDA[15572661]	16
GO:0016605	PML body	Cellular Component	IDA[18566590]; TAS[15247905]	10
GO:0019048	virus-host interaction	Biological Process		54
GO:0000281	cytokinesis after mitosis	Biological Process		4

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05014	Amyotrophic lateral sclerosis (ALS)	11	Amyotrophic lateral sclerosis (ALS) is a progressive, lethal...... Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. Mutant superoxide dismutase 1 (SOD1), as seen in some familial ALS (FALS) cases, is unstable, forming aggregates in the motor neuron cytoplasm, axoplasm and mitochondria. Within mitochondria, mutant SOD1 may interfere with the anti-apoptotic function of Bcl-2, affect mitochondrial import by interfering with the translocation machinery (TOM/TIM), and generate toxic free radicals (ROS). Reactive oxygen species (ROS), produced within mitochondria, inhibit the function of EAAT2, the main glial glutamate transporter protein, responsible for most of the reuptake of synaptically released glutamate. Glutamate excess increases intracellular calcium, which enhances oxidative stress and mitochondrial damage. Mutant SOD1 can also trigger oxidative reactions , which can then cause damage through the formation of hydroxyl radicals or via nitration of tyrosine residues on proteins. Nitration may target neurofilament proteins, affecting axonal transport. Collectively, these mechanisms are predicted to disturb cellular homeostasis, ultimately triggering motor neuron death. More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with DAXX (count: 135)

Gene Symbol	Pathway Count	Pathway List
HMGA1	10	transcription factor binding; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding; negative regulation of transcription, DNA-dependent; nuclear hormone receptor binding; enzyme binding; virus-host interaction;
MAPK1	10	transcription factor binding; induction of apoptosis; apoptotic process; transcription, DNA-dependent; cytosol; cytoplasm; nucleolus; nucleus; protein binding; virus-host interaction;
RELA	9	transcription factor binding; cytosol; cytoplasm; nucleus; protein binding; protein N-terminus binding; negative regulation of transcription, DNA-dependent; ubiquitin protein ligase binding; virus-host interaction;
KAT5	9	transcription, DNA-dependent; cytosol; nucleolus; nucleus; protein binding; androgen receptor binding; negative regulation of transcription, DNA-dependent; androgen receptor signaling pathway; virus-host interaction;
KDM1A	8	transcription factor binding; transcription, DNA-dependent; nucleus; protein binding; p53 binding; androgen receptor binding; negative regulation of transcription, DNA-dependent; enzyme binding;
MEN1	8	transcription, DNA-dependent; cytosol; cytoplasm; nucleolus; nucleus; protein binding; protein N-terminus binding; negative regulation of transcription, DNA-dependent;
GSK3B	8	cytosol; cytoplasm; nucleolus; nucleus; protein binding; p53 binding; negative regulation of transcription, DNA-dependent; ubiquitin protein ligase binding;
APBB1	7	transcription factor binding; apoptotic process; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
BCLAF1	7	induction of apoptosis; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
BNIP3	7	induction of apoptosis; apoptotic process; cytoplasm; nucleus; protein binding; protein homodimerization activity; virus-host interaction;
WWOX	7	induction of apoptosis; apoptotic process; cytosol; cytoplasm; nucleus; protein binding; enzyme binding;
BIRC2	7	apoptotic process; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding; protein N-terminus binding;
PDCD4	7	apoptotic process; cytosol; cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
PRKCB	7	apoptotic process; transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding; androgen receptor binding;
ZBTB16	7	apoptotic process; transcription, DNA-dependent; nucleus; protein binding; protein homodimerization activity; negative regulation of transcription, DNA-dependent; PML body;
HINFP	7	regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent; enzyme binding;
HSPA8	7	transcription, DNA-dependent; cytosol; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent; virus-host interaction;
XRCC5	7	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent; ubiquitin protein ligase binding;
AIP	6	transcription factor binding; cytosol; cytoplasm; nucleolus; nucleus; protein binding;
ARRB1	6	transcription factor binding; cytosol; cytoplasm; nucleus; protein binding; ubiquitin protein ligase binding;
FOXP1	6	transcription factor binding; cytoplasm; nucleolus; nucleus; protein homodimerization activity; negative regulation of transcription, DNA-dependent;
HES1	6	transcription factor binding; cytoplasm; nucleus; protein binding; protein homodimerization activity; negative regulation of transcription, DNA-dependent;
IGHMBP2	6	transcription factor binding; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
MED1	6	transcription factor binding; nucleolus; nucleus; protein binding; nuclear hormone receptor binding; androgen receptor signaling pathway;
SMARCD3	6	transcription factor binding; transcription, DNA-dependent; cytoplasm; nucleus; protein binding; nuclear hormone receptor binding;
DPF2	6	induction of apoptosis; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus;
PYCARD	6	induction of apoptosis; cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
APC	6	apoptotic process; cytosol; cytoplasm; nucleus; protein binding; cytokinesis after mitosis;
BRMS1	6	apoptotic process; transcription, DNA-dependent; cytoplasm; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
MAPK3	6	apoptotic process; cytosol; nucleolus; nucleus; protein binding; virus-host interaction;
PSMC3	6	apoptotic process; cytosol; cytoplasm; nucleus; protein binding; virus-host interaction;
CTNND1	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding;
FLII	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
HABP4	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding;
PSPC1	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
RNF20	6	regulation of transcription, DNA-dependent; nucleolus; nucleus; protein binding; p53 binding; ubiquitin protein ligase binding;
THRSP	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleolus; nucleus; protein homodimerization activity;
ZNF263	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; negative regulation of transcription, DNA-dependent;
ATXN1	6	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
NEDD4L	6	transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding; virus-host interaction;
NRIP1	6	transcription, DNA-dependent; nucleus; protein binding; androgen receptor binding; nuclear hormone receptor binding; androgen receptor signaling pathway;
SMARCB1	6	transcription, DNA-dependent; nucleolus; nucleus; protein binding; p53 binding; virus-host interaction;
CEP57	6	cytosol; cytoplasm; nucleolus; nucleus; protein binding; protein homodimerization activity;
ID2	6	cytosol; cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
PAFAH1B1	6	cytosol; cytoplasm; nucleolus; nucleus; protein binding; protein homodimerization activity;
RAN	6	cytosol; cytoplasm; protein binding; androgen receptor binding; androgen receptor signaling pathway; virus-host interaction;
UBE3A	6	cytosol; cytoplasm; nucleus; protein binding; androgen receptor signaling pathway; virus-host interaction;
RCHY1	6	cytoplasm; nucleolus; nucleus; protein binding; p53 binding; protein homodimerization activity;
RNF40	6	cytoplasm; nucleolus; nucleus; protein binding; protein homodimerization activity; ubiquitin protein ligase binding;
TFAP2A	6	cytoplasm; nucleolus; nucleus; protein binding; protein homodimerization activity; negative regulation of transcription, DNA-dependent;
TRIM5	6	cytoplasm; nucleolus; nucleus; protein binding; protein homodimerization activity; virus-host interaction;
SNW1	6	nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent; nuclear hormone receptor binding; virus-host interaction;
FADD	5	extrinsic apoptotic signaling pathway via death domain receptors; apoptotic process; cytosol; protein binding; virus-host interaction;
ETS1	5	transcription factor binding; induction of apoptosis; transcription, DNA-dependent; nucleus; protein binding;
FOXG1	5	transcription factor binding; regulation of transcription, DNA-dependent; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
GATA6	5	transcription factor binding; apoptotic process; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
HEY2	5	transcription factor binding; cytoplasm; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
DAB2	5	activation of JUN kinase activity; apoptotic process; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
PERP	5	induction of apoptosis; apoptotic process; cytoplasm; nucleolus; nucleus;
PHLDA1	5	induction of apoptosis; apoptotic process; nucleolus; nucleus; protein binding;
PMAIP1	5	induction of apoptosis; apoptotic process; cytosol; nucleus; protein binding;
RPS3	5	induction of apoptosis; cytosol; cytoplasm; nucleus; protein binding;
SMNDC1	5	induction of apoptosis; apoptotic process; cytoplasm; nucleus; protein binding;
TGFBR1	5	induction of apoptosis; apoptotic process; regulation of transcription, DNA-dependent; protein binding; regulation of protein ubiquitination;
AATF	5	apoptotic process; cytoplasm; nucleolus; nucleus; protein binding;
EGLN3	5	apoptotic process; cytosol; cytoplasm; nucleus; protein binding;
GZMB	5	apoptotic process; cytosol; cytoplasm; nucleus; protein binding;
KRT18	5	apoptotic process; cytoplasm; nucleolus; protein binding; virus-host interaction;
PDCD10	5	apoptotic process; cytosol; protein binding; protein N-terminus binding; protein homodimerization activity;
PRKD1	5	apoptotic process; cytosol; cytoplasm; nucleus; protein binding;
TJP1	5	apoptotic process; cytosol; cytoplasm; nucleus; protein binding;
BCL11A	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein homodimerization activity;
CBL	5	regulation of transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding;
CDCA7L	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus;
CNOT6	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding;
CTNND2	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
DDX54	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleolus; nucleus; nuclear hormone receptor binding;
EEF1D	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding;
HOXB1	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus;
IL16	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; virus-host interaction;
INO80E	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleolus; nucleus; protein binding;
LPXN	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
PRKAA1	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding;
PTPN14	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
PTTG1	5	regulation of transcription, DNA-dependent; cytosol; cytoplasm; nucleus; protein binding;
RPS6KA4	5	regulation of transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
RQCD1	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding;
SCAI	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
SETD1A	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleolus; nucleus; protein binding;
SSRP1	5	regulation of transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
TERF2IP	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
TRIM22	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleus; virus-host interaction;
WASL	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytosol; nucleus; protein binding;
ZNF77	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; cytoplasm; nucleolus; nucleus;
CBX3	5	transcription, DNA-dependent; nucleus; protein binding; negative regulation of transcription, DNA-dependent; enzyme binding;
CCDC85B	5	transcription, DNA-dependent; cytoplasm; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
ELK3	5	transcription, DNA-dependent; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
HOXA9	5	transcription, DNA-dependent; cytoplasm; nucleus; protein binding; enzyme binding;
MMS19	5	transcription, DNA-dependent; cytoplasm; nucleus; protein binding; nuclear hormone receptor binding;
MPHOSPH8	5	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; negative regulation of transcription, DNA-dependent;
NCOR2	5	transcription, DNA-dependent; nucleolus; nucleus; protein binding; protein N-terminus binding;
POU2F3	5	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
RRP8	5	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
SAP18	5	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
TCF25	5	transcription, DNA-dependent; cytoplasm; nucleolus; nucleus; protein binding;
ALKBH8	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
ARRB2	5	cytosol; cytoplasm; nucleus; protein binding; ubiquitin protein ligase binding;
BAIAP2	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
CEP164	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
CRYAB	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
CUL5	5	cytosol; nucleus; protein binding; ubiquitin protein ligase binding; virus-host interaction;
DCPS	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
IARS	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
MALT1	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
MTMR2	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
NUMA1	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
PARK2	5	cytosol; cytoplasm; nucleus; protein binding; ubiquitin protein ligase binding;
PDE2A	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
PLCE1	5	cytosol; cytoplasm; protein binding; receptor signaling protein activity; enzyme binding;
PPP1CA	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
RFWD2	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
SART1	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
SNCA	5	cytosol; cytoplasm; nucleus; protein binding; protein N-terminus binding;
STXBP3	5	cytosol; cytoplasm; nucleolus; nucleus; protein binding;
WWP1	5	cytosol; cytoplasm; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
XPO1	5	cytosol; cytoplasm; nucleolus; protein binding; virus-host interaction;
KLHL20	5	cytoplasm; nucleolus; nucleus; protein binding; PML body;
PGR	5	cytoplasm; nucleolus; nucleus; protein binding; enzyme binding;
RAD9A	5	cytoplasm; nucleolus; nucleus; protein binding; enzyme binding;
RBPJ	5	cytoplasm; nucleolus; nucleus; protein binding; negative regulation of transcription, DNA-dependent;
TDP2	5	cytoplasm; nucleolus; nucleus; protein binding; PML body;
TGFB1I1	5	cytoplasm; protein binding; androgen receptor binding; nuclear hormone receptor binding; androgen receptor signaling pathway;
MED4	5	nucleolus; nucleus; protein binding; nuclear hormone receptor binding; androgen receptor signaling pathway;
NCOA6	5	nucleolus; nucleus; protein binding; nuclear hormone receptor binding; enzyme binding;
THRAP3	5	nucleolus; nucleus; protein binding; nuclear hormone receptor binding; androgen receptor signaling pathway;

Genes shared at least 2 KEGG pathways with DAXX (count: 3)

Gene Symbol	Pathway Count	Pathway List
MAP2K3	2	Amyotrophic lateral sclerosis (ALS); MAPK signaling pathway;
MAP3K5	2	Amyotrophic lateral sclerosis (ALS); MAPK signaling pathway;
PPP3R2	2	Amyotrophic lateral sclerosis (ALS); MAPK signaling pathway;

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Region: chr6:33286335..33297046 View in gBrowse