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	UBE3A
Previous Symbol	EPVE6AP, HPVE6A
Symbol Alias	AS, ANCR, E6-AP, FLJ26981
Approved Name	ubiquitin protein ligase E3A
Previous Name	human papilloma virus E6-associated protein
Name Alias	Angelman syndrome
Location	15q11.2
Position	chr15:25582396-25684128, -
External Links	HGNC: 12496 Entrez Gene: 7337 UCSC: uc001zaq.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_46	chr15:21016722-25902239 (NCBI Build 36.1 (hg18))	4933636	15q11.2-15q13.1	Gain

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
15q11.2-13.3	chr15:20700000-33600000	1 (1/0/0)

Gene related GO terms (count: 19)

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

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0060736	prostate gland growth	Biological Process		1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0070936	protein K48-linked ubiquitination	Biological Process	IDA[12890688]	5
GO:0030521	androgen receptor signaling pathway	Biological Process		16
GO:0019048	virus-host interaction	Biological Process		54
GO:0042787	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Biological Process		16
GO:0035037	sperm entry	Biological Process		1
GO:0006511	ubiquitin-dependent protein catabolic process	Biological Process	TAS[8221889]	25
GO:0006508	proteolysis	Biological Process	TAS[8221889]	102
GO:0014068	positive regulation of phosphatidylinositol 3-kinase cascade	Biological Process		5
GO:0007420	brain development	Biological Process	TAS[8988171]	33
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[16493710]	910
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component		690
GO:0004842	ubiquitin-protein ligase activity	Molecular Function	IDA[12890688]	52
GO:0003713	transcription coactivator activity	Molecular Function		52
GO:0001541	ovarian follicle development	Biological Process		4
GO:0000502	proteasome complex	Cellular Component		14

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04120	Ubiquitin mediated proteolysis	29	Protein ubiquitination plays an important role in eukaryotic...... Protein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to proteins being degraded is performed by a reaction cascade consisting of three enzymes, named E1 (ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), and E3 (ubiquitin ligase). Each E3 has specificity to its substrate, or proteins to be targeted by ubiquitination. Many E3s are discovered in eukaryotes and they are classified into four types: HECT type, U-box type, single RING-finger type, and multi-subunit RING-finger type. Multi-subunit RING-finger E3s are exemplified by cullin-Rbx E3s and APC/C. They consist of a RING-finger-containing subunit (RBX1 or RBX2) that functions to bind E2s, a scaffold-like cullin molecule, adaptor proteins, and a target recognizing subunit that binds substrates. More...

Genes shared at least 5 GO terms with UBE3A (count: 48)

Gene Symbol	Pathway Count	Pathway List
PARK2	8	protein K48-linked ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
KAT5	7	positive regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; virus-host interaction; nucleus; protein binding; cytosol; transcription coactivator activity;
TNFAIP3	7	protein K48-linked ubiquitination; proteolysis; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
NEDD4L	7	virus-host interaction; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
PSMC3	7	virus-host interaction; nucleus; protein binding; cytosol; cytoplasm; transcription coactivator activity; proteasome complex;
MED1	6	positive regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; brain development; nucleus; protein binding; transcription coactivator activity;
MEN1	6	positive regulation of transcription from RNA polymerase II promoter; brain development; nucleus; protein binding; cytosol; cytoplasm;
RELA	6	positive regulation of transcription from RNA polymerase II promoter; virus-host interaction; nucleus; protein binding; cytosol; cytoplasm;
YAP1	6	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm; transcription coactivator activity;
RNF146	6	protein K48-linked ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol; ubiquitin-protein ligase activity;
DAXX	6	androgen receptor signaling pathway; virus-host interaction; nucleus; protein binding; cytosol; cytoplasm;
RAN	6	androgen receptor signaling pathway; virus-host interaction; protein binding; cytosol; cytoplasm; transcription coactivator activity;
HERC5	6	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
TRIM32	6	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity; transcription coactivator activity;
WWP1	6	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
MALT1	6	proteolysis; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
CBL	6	positive regulation of phosphatidylinositol 3-kinase cascade; nucleus; protein binding; cytosol; cytoplasm; ubiquitin-protein ligase activity;
ARRB1	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
GSK3B	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
IRF7	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
LPIN1	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; cytosol; cytoplasm; transcription coactivator activity;
MAPK3	5	positive regulation of transcription from RNA polymerase II promoter; virus-host interaction; nucleus; protein binding; cytosol;
NCK1	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
NCOA6	5	positive regulation of transcription from RNA polymerase II promoter; brain development; nucleus; protein binding; transcription coactivator activity;
NRIP1	5	positive regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; nucleus; protein binding; transcription coactivator activity;
PRKD1	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
SMARCB1	5	positive regulation of transcription from RNA polymerase II promoter; virus-host interaction; nucleus; protein binding; transcription coactivator activity;
SNW1	5	positive regulation of transcription from RNA polymerase II promoter; virus-host interaction; nucleus; protein binding; transcription coactivator activity;
TFAP2A	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytoplasm; transcription coactivator activity;
THRAP3	5	positive regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; nucleus; protein binding; transcription coactivator activity;
WWOX	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; cytosol; cytoplasm;
CUL5	5	virus-host interaction; ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytosol;
DDB1	5	virus-host interaction; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm;
MAPK1	5	virus-host interaction; nucleus; protein binding; cytosol; cytoplasm;
TRIM5	5	virus-host interaction; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
HECTD1	5	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
HERC2	5	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
HERC6	5	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; cytosol; cytoplasm; ubiquitin-protein ligase activity;
RCHY1	5	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
TRIP12	5	protein ubiquitination involved in ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
FBXO7	5	ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
RNF20	5	ubiquitin-dependent protein catabolic process; nucleus; protein binding; ubiquitin-protein ligase activity; transcription coactivator activity;
RNF40	5	ubiquitin-dependent protein catabolic process; nucleus; protein binding; cytoplasm; ubiquitin-protein ligase activity;
BLMH	5	proteolysis; nucleus; protein binding; cytosol; cytoplasm;
PYCARD	5	proteolysis; nucleus; protein binding; cytosol; cytoplasm;
ARRB2	5	brain development; nucleus; protein binding; cytosol; cytoplasm;
AIP	5	nucleus; protein binding; cytosol; cytoplasm; transcription coactivator activity;
BIRC2	5	nucleus; protein binding; cytosol; ubiquitin-protein ligase activity; transcription coactivator activity;

Genes shared at least 2 KEGG pathways with UBE3A (count: 0)

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Region: chr15:25582396..25684128 View in gBrowse