Disease table of ANGELMAN SYNDROME OMIM ID: 105830

Gene-disease associations table

Show entries

Search:

Gene	Associated with ANGELMAN SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CDKL5	ClinVar	HGNC link	Xp22.13	2	PS308350, 105830
MECP2	ClinVar	HGNC link	Xq28	6	300673, PS309510, PS209850, 312750, 143465, 105830
UBE3A	ClinVar, OMIM	HGNC link	15q11.2	1	105830

Showing 1 to 3 of 3 entries

Previous1Next

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
X	2	CDKL5, MECP2

Transcription Factors (TF) annotation from TRRUST

Show entries

Search:

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
MECP2	YES	7	CCND1, ALOX5, IGFBP3, TFF1, ESR1, GAD1, RELN	0

Showing 1 to 1 of 1 entries

Previous1Next

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
CDKL5	MECP2	Yes	1	CDKL5

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

Gene1	Gene2	Direct interaction	More information
CDKL5	MECP2	yes, complex	CDKL5 mediates phosphorylation of MECP2. [UniProt]

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

Show entries

Search:

GO	IC	Number of genes with the same GO	Genes
transcription cofactor activity (GO:0003712)	3.44	2	UBE3A, MECP2
transcription factor activity, transcription factor binding (GO:0000989)	3.36	2	UBE3A, MECP2
transcription factor activity, protein binding (GO:0000988)	3.35	2	UBE3A, MECP2
enzyme binding (GO:0019899)	2.27	2	CDKL5, MECP2
nucleotide binding (GO:0000166)	1.96	2	CDKL5, MECP2
nucleoside phosphate binding (GO:1901265)	1.96	2	CDKL5, MECP2
transferase activity (GO:0016740)	1.95	2	CDKL5, UBE3A
small molecule binding (GO:0036094)	1.89	2	CDKL5, MECP2
heterocyclic compound binding (GO:1901363)	1.06	2	CDKL5, MECP2
organic cyclic compound binding (GO:0097159)	1.05	2	CDKL5, MECP2

Showing 1 to 10 of 13 entries

Previous1 2Next

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
protein serine/threonine kinase activity (GO:0004674)	NEW	3.64	0.04	CDKL5, UBE3A, MECP2

GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

Show entries

Search:

GO	IC	Number of genes with the same GO	Genes
brain development (GO:0007420)	4.24	2	UBE3A, MECP2
positive regulation of nervous system development (GO:0051962)	3.64	2	CDKL5, MECP2
regulation of neurogenesis (GO:0050767)	3.21	2	CDKL5, MECP2
regulation of nervous system development (GO:0051960)	3.1	2	CDKL5, MECP2
regulation of cell development (GO:0060284)	3.01	2	CDKL5, MECP2
positive regulation of developmental process (GO:0051094)	2.77	2	CDKL5, MECP2
positive regulation of cellular component organization (GO:0051130)	2.68	2	CDKL5, MECP2
multi-organism process (GO:0051704)	2.65	2	UBE3A, MECP2
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	UBE3A, MECP2
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	UBE3A, MECP2

Showing 1 to 10 of 82 entries

Previous1 2 3 4 5…9Next

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

Show entries

Search:

GO	IC	Number of genes with the same GO	Genes
cytosol (GO:0005829)	1.68	2	UBE3A, MECP2
nuclear part (GO:0044428)	1.55	2	CDKL5, MECP2
protein complex (GO:0043234)	1.51	2	UBE3A, MECP2
macromolecular complex (GO:0032991)	1.35	2	UBE3A, MECP2
nucleus (GO:0005634)	1.07	3	CDKL5, UBE3A, MECP2
cytoplasm (GO:0005737)	1.01	3	CDKL5, UBE3A, MECP2
cytoplasmic part (GO:0044444)	0.82	3	CDKL5, UBE3A, MECP2
intracellular organelle part (GO:0044446)	0.81	2	CDKL5, MECP2
organelle part (GO:0044422)	0.79	2	CDKL5, MECP2
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	CDKL5, UBE3A, MECP2

Showing 1 to 10 of 15 entries

Previous1 2Next

NET-GE enrichment

Show entries

Search:

Term	New enriched term	IC	P value	Genes
dendrite cytoplasm (GO:0032839)	NEW	7.03	0.0	CDKL5, MECP2
cell projection cytoplasm (GO:0032838)	NEW	5.89	0.0	CDKL5, MECP2

Showing 1 to 2 of 2 entries

Previous1Next