Gene table of UBE3A : ubiquitin protein ligase E3A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with UBE3A	OMIM link	Number of associated genes	genes
105830	ANGELMAN SYNDROME	ClinVar, OMIM	link to OMIM	3	UBE3A, CDKL5, MECP2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Viral carcinogenesis	hsa05203	5.08
Ubiquitin mediated proteolysis	hsa04120	5.63

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Antigen processing: Ubiquitination & Proteasome degradation	R-HSA-983168	5.19
Immune System	R-HSA-168256	2.37
Adaptive Immune System	R-HSA-1280218	3.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein transferase activity	GO:0019787	3.69
cation binding	GO:0043169	1.4
protein binding	GO:0005515	0.46
ubiquitin-protein transferase activity	GO:0004842	3.73
ubiquitin protein ligase activity	GO:0061630	4.47
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
metal ion binding	GO:0046872	1.41
ligase activity	GO:0016874	3.72
ubiquitin-like protein ligase activity	GO:0061659	4.44