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	APBB1
Previous Symbol	RIR
Symbol Alias	Fe65
Approved Name	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
Location	11p15
Position	chr11:6416354-6440644, -
External Links	HGNC: 581 Entrez Gene: 322 Ensembl: ENSG00000166313 UCSC: uc001mcy.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_Williams[2010]_29	chr11:5582423-7488751 (NCBI Build 36.1 (hg18))	1859865	11p15.4	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 33)

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

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007050	cell cycle arrest	Biological Process		25
GO:0007165	signal transduction	Biological Process	NAS[8894693]	171
GO:0006915	apoptotic process	Biological Process		111
GO:0006974	response to DNA damage stimulus	Biological Process	IDA[18468999]	37
GO:0008134	transcription factor binding	Molecular Function		38
GO:0008542	visual learning	Biological Process		12
GO:0007409	axonogenesis	Biological Process	NAS[12843239]	14
GO:0007411	axon guidance	Biological Process		65
GO:0005634	nucleus	Cellular Component	IDA[19343227]	770
GO:0005737	cytoplasm	Cellular Component	IDA[18468999]	690
GO:0003682	chromatin binding	Molecular Function	IDA[19343227]	48
GO:0005515	protein binding	Molecular Function	IPI[16049941]	910
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0005886	plasma membrane	Cellular Component	IDA[18468999]	772
GO:0006302	double-strand break repair	Biological Process		11
GO:0045749	negative regulation of S phase of mitotic cell cycle	Biological Process		4
GO:0045739	positive regulation of DNA repair	Biological Process		4
GO:0045665	negative regulation of neuron differentiation	Biological Process		13
GO:0045202	synapse	Cellular Component	IDA[12843239]	31
GO:0070064	proline-rich region binding	Molecular Function	IPI[17686488]	4
GO:0050760	negative regulation of thymidylate synthase biosynthetic process	Biological Process		1
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IDA[19343227]	80
GO:0030308	negative regulation of cell growth	Biological Process		21
GO:0030198	extracellular matrix organization	Biological Process		31
GO:0030027	lamellipodium	Cellular Component	IDA[12843239]	27
GO:0016607	nuclear speck	Cellular Component		34
GO:0043967	histone H4 acetylation	Biological Process		2
GO:0043065	positive regulation of apoptotic process	Biological Process	IDA[18468999]	34
GO:0042393	histone binding	Molecular Function	IPI[19234442]	9
GO:0030426	growth cone	Cellular Component	IDA[12843239]	20
GO:0001764	neuron migration	Biological Process		21
GO:0001540	beta-amyloid binding	Molecular Function	IPI[18468999]; NAS[8894693]	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More...

Genes shared at least 5 GO terms with APBB1 (count: 107)

Gene Symbol	Pathway Count	Pathway List
APC	10	cell cycle arrest; apoptotic process; response to DNA damage stimulus; axonogenesis; nucleus; cytoplasm; protein binding; plasma membrane; lamellipodium; positive regulation of apoptotic process;
MAPK1	10	signal transduction; apoptotic process; response to DNA damage stimulus; transcription factor binding; axon guidance; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
PRKCB	9	signal transduction; apoptotic process; nucleus; cytoplasm; chromatin binding; protein binding; transcription, DNA-dependent; plasma membrane; histone binding;
MEN1	8	cell cycle arrest; response to DNA damage stimulus; nucleus; cytoplasm; chromatin binding; protein binding; transcription, DNA-dependent; positive regulation of apoptotic process;
PRKAA1	7	cell cycle arrest; signal transduction; nucleus; chromatin binding; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
TGFBR1	7	cell cycle arrest; signal transduction; apoptotic process; protein binding; regulation of transcription, DNA-dependent; plasma membrane; positive regulation of transcription, DNA-dependent;
LPXN	7	signal transduction; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; plasma membrane;
DAXX	7	apoptotic process; transcription factor binding; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
ZBTB16	7	apoptotic process; nucleus; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; nuclear speck; positive regulation of apoptotic process;
IGHMBP2	7	transcription factor binding; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; growth cone;
WASL	7	axon guidance; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; plasma membrane; lamellipodium;
CTNND1	7	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; plasma membrane; lamellipodium;
HINFP	7	nucleus; chromatin binding; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone binding;
ATM	6	cell cycle arrest; signal transduction; response to DNA damage stimulus; protein binding; double-strand break repair; positive regulation of apoptotic process;
BARD1	6	cell cycle arrest; response to DNA damage stimulus; nucleus; cytoplasm; protein binding; positive regulation of apoptotic process;
ILK	6	cell cycle arrest; cytoplasm; protein binding; plasma membrane; positive regulation of transcription, DNA-dependent; lamellipodium;
AIP	6	signal transduction; transcription factor binding; nucleus; cytoplasm; protein binding; plasma membrane;
CTNND2	6	signal transduction; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
ERBB2	6	signal transduction; axon guidance; nucleus; protein binding; transcription, DNA-dependent; plasma membrane;
NEK6	6	signal transduction; apoptotic process; nucleus; cytoplasm; protein binding; nuclear speck;
NR4A2	6	signal transduction; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; neuron migration;
PRKD1	6	signal transduction; apoptotic process; nucleus; cytoplasm; protein binding; plasma membrane;
PAK1	6	apoptotic process; axon guidance; cytoplasm; protein binding; plasma membrane; growth cone;
WWOX	6	apoptotic process; nucleus; cytoplasm; protein binding; plasma membrane; positive regulation of apoptotic process;
H2AFX	6	response to DNA damage stimulus; nucleus; protein binding; double-strand break repair; positive regulation of DNA repair; histone binding;
MMS19	6	response to DNA damage stimulus; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
TP53BP1	6	response to DNA damage stimulus; nucleus; cytoplasm; protein binding; double-strand break repair; positive regulation of transcription, DNA-dependent;
YAP1	6	response to DNA damage stimulus; nucleus; cytoplasm; chromatin binding; protein binding; proline-rich region binding;
HMGA1	6	transcription factor binding; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
MED1	6	transcription factor binding; nucleus; chromatin binding; protein binding; negative regulation of neuron differentiation; positive regulation of transcription, DNA-dependent;
RELA	6	transcription factor binding; nucleus; cytoplasm; chromatin binding; protein binding; positive regulation of transcription, DNA-dependent;
SMARCD3	6	transcription factor binding; nucleus; cytoplasm; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
BAIAP2	6	axonogenesis; nucleus; cytoplasm; protein binding; plasma membrane; proline-rich region binding;
GSK3B	6	axon guidance; nucleus; cytoplasm; protein binding; plasma membrane; growth cone;
CDCA5	6	nucleus; cytoplasm; chromatin binding; protein binding; plasma membrane; double-strand break repair;
FLCN	6	nucleus; cytoplasm; protein binding; plasma membrane; negative regulation of cell growth; positive regulation of apoptotic process;
PSPC1	6	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; nuclear speck;
RNF20	6	nucleus; chromatin binding; protein binding; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone binding;
SNCA	6	nucleus; cytoplasm; protein binding; plasma membrane; histone binding; growth cone;
TSC1	5	cell cycle arrest; cytoplasm; protein binding; lamellipodium; growth cone;
ADRA2A	5	signal transduction; cytoplasm; protein binding; plasma membrane; synapse;
ANK3	5	signal transduction; axonogenesis; axon guidance; protein binding; plasma membrane;
DTNA	5	signal transduction; cytoplasm; protein binding; plasma membrane; synapse;
EEF1D	5	signal transduction; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
PPP1R1B	5	signal transduction; visual learning; nucleus; cytoplasm; transcription, DNA-dependent;
PRKG1	5	signal transduction; cytoplasm; protein binding; plasma membrane; neuron migration;
PYCARD	5	signal transduction; nucleus; cytoplasm; protein binding; positive regulation of apoptotic process;
RAN	5	signal transduction; cytoplasm; chromatin binding; protein binding; positive regulation of transcription, DNA-dependent;
SMC3	5	signal transduction; nucleus; cytoplasm; chromatin binding; protein binding;
TNR	5	signal transduction; axon guidance; nucleus; cytoplasm; extracellular matrix organization;
WWP1	5	signal transduction; nucleus; cytoplasm; protein binding; plasma membrane;
AATF	5	apoptotic process; response to DNA damage stimulus; nucleus; cytoplasm; protein binding;
ADRB1	5	apoptotic process; nucleus; cytoplasm; protein binding; plasma membrane;
BIRC2	5	apoptotic process; nucleus; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
BRMS1	5	apoptotic process; nucleus; cytoplasm; protein binding; transcription, DNA-dependent;
EGLN3	5	apoptotic process; response to DNA damage stimulus; nucleus; cytoplasm; protein binding;
GATA6	5	apoptotic process; transcription factor binding; nucleus; chromatin binding; protein binding;
MAPK3	5	apoptotic process; response to DNA damage stimulus; axon guidance; nucleus; protein binding;
MAPT	5	apoptotic process; protein binding; plasma membrane; growth cone; neuron migration;
PMAIP1	5	apoptotic process; response to DNA damage stimulus; nucleus; protein binding; positive regulation of apoptotic process;
SMNDC1	5	apoptotic process; nucleus; cytoplasm; protein binding; nuclear speck;
TJP1	5	apoptotic process; nucleus; cytoplasm; protein binding; plasma membrane;
CHD1L	5	response to DNA damage stimulus; nucleus; cytoplasm; protein binding; plasma membrane;
IRF7	5	response to DNA damage stimulus; nucleus; cytoplasm; protein binding; positive regulation of transcription, DNA-dependent;
NCOA6	5	response to DNA damage stimulus; nucleus; chromatin binding; protein binding; positive regulation of transcription, DNA-dependent;
RAD9A	5	response to DNA damage stimulus; nucleus; cytoplasm; protein binding; positive regulation of apoptotic process;
ARRB1	5	transcription factor binding; nucleus; cytoplasm; protein binding; plasma membrane;
ETS1	5	transcription factor binding; nucleus; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
FOXG1	5	transcription factor binding; nucleus; protein binding; regulation of transcription, DNA-dependent; negative regulation of neuron differentiation;
KDM1A	5	transcription factor binding; nucleus; chromatin binding; protein binding; transcription, DNA-dependent;
ATXN1	5	visual learning; nucleus; cytoplasm; protein binding; transcription, DNA-dependent;
CACNA1C	5	visual learning; axon guidance; cytoplasm; protein binding; plasma membrane;
NCK1	5	axon guidance; nucleus; cytoplasm; protein binding; plasma membrane;
RPS6KA4	5	axon guidance; nucleus; cytoplasm; protein binding; regulation of transcription, DNA-dependent;
ACHE	5	nucleus; protein binding; plasma membrane; synapse; beta-amyloid binding;
ASF1A	5	nucleus; chromatin binding; protein binding; transcription, DNA-dependent; histone binding;
BCLAF1	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; positive regulation of apoptotic process;
CBL	5	nucleus; cytoplasm; protein binding; regulation of transcription, DNA-dependent; plasma membrane;
CCDC85B	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; negative regulation of cell growth;
CORO1A	5	nucleus; cytoplasm; protein binding; plasma membrane; lamellipodium;
CRYAB	5	nucleus; cytoplasm; protein binding; plasma membrane; negative regulation of cell growth;
FLII	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
HABP4	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
ID2	5	nucleus; cytoplasm; protein binding; negative regulation of neuron differentiation; positive regulation of transcription, DNA-dependent;
IL16	5	nucleus; cytoplasm; transcription, DNA-dependent; regulation of transcription, DNA-dependent; plasma membrane;
KAT5	5	nucleus; protein binding; transcription, DNA-dependent; double-strand break repair; positive regulation of transcription, DNA-dependent;
MAGI2	5	nucleus; cytoplasm; protein binding; plasma membrane; synapse;
NCOR1	5	nucleus; cytoplasm; chromatin binding; protein binding; transcription, DNA-dependent;
NF2	5	nucleus; cytoplasm; protein binding; plasma membrane; lamellipodium;
PAFAH1B1	5	nucleus; cytoplasm; protein binding; growth cone; neuron migration;
PRPF19	5	nucleus; cytoplasm; protein binding; negative regulation of neuron differentiation; nuclear speck;
PTPN14	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
RCC1	5	nucleus; cytoplasm; chromatin binding; protein binding; histone binding;
RREB1	5	nucleus; cytoplasm; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; nuclear speck;
RRP8	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; plasma membrane;
SAP18	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; plasma membrane;
SCAI	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
SETD1A	5	nucleus; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; nuclear speck;
SSRP1	5	nucleus; cytoplasm; chromatin binding; protein binding; regulation of transcription, DNA-dependent;
TERF2IP	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent;
TFAP2A	5	nucleus; cytoplasm; chromatin binding; protein binding; positive regulation of transcription, DNA-dependent;
TRIM22	5	nucleus; cytoplasm; transcription, DNA-dependent; regulation of transcription, DNA-dependent; nuclear speck;
XRCC5	5	nucleus; cytoplasm; protein binding; transcription, DNA-dependent; double-strand break repair;
NUP62	5	cytoplasm; chromatin binding; protein binding; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
SNAP25	5	cytoplasm; protein binding; plasma membrane; synapse; growth cone;
WNT11	5	cytoplasm; plasma membrane; positive regulation of transcription, DNA-dependent; negative regulation of cell growth; positive regulation of apoptotic process;
MYB	5	chromatin binding; protein binding; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;

Genes shared at least 2 KEGG pathways with APBB1 (count: 0)

View in gBrowse

Region: chr11:6416354..6440644 View in gBrowse