Disease table of ANGELMAN SYNDROME OMIM ID: 105830

Gene-disease associations table

GeneAssociated with ANGELMAN SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CDKL5ClinVarHGNC linkXp22.132PS308350, 105830
MECP2ClinVarHGNC linkXq286300673, PS309510, PS209850, 312750, 143465, 105830
UBE3AClinVar, OMIMHGNC link15q11.21105830

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2CDKL5, MECP2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
MECP2YES7CCND1, ALOX5, IGFBP3, TFF1, ESR1, GAD1, RELN0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CDKL5MECP2Yes1CDKL5

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
Gene1Gene2Direct interactionMore information
CDKL5MECP2yes, complexCDKL5 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

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183CDKL5, UBE3A, MECP2
protein binding (GO:0005515) 0.463CDKL5, UBE3A, MECP2
organic cyclic compound binding (GO:0097159) 1.052CDKL5, MECP2
transcription cofactor activity (GO:0003712) 3.442UBE3A, MECP2
enzyme binding (GO:0019899) 2.272CDKL5, MECP2
nucleotide binding (GO:0000166) 1.962CDKL5, MECP2
small molecule binding (GO:0036094) 1.892CDKL5, MECP2
catalytic activity (GO:0003824) 1.052CDKL5, UBE3A
transferase activity (GO:0016740) 1.952CDKL5, UBE3A
transcription factor activity, transcription factor binding (GO:0000989) 3.362UBE3A, MECP2
transcription factor activity, protein binding (GO:0000988) 3.352UBE3A, MECP2
heterocyclic compound binding (GO:1901363) 1.062CDKL5, MECP2
nucleoside phosphate binding (GO:1901265) 1.962CDKL5, MECP2

NET-GE enrichment

Term New enriched termICP valueGenes
protein serine/threonine kinase activity (GO:0004674) NEW3.640.04CDKL5, UBE3A, MECP2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cellular protein metabolic process (GO:0044267) 1.633CDKL5, UBE3A, MECP2
cellular macromolecule metabolic process (GO:0044260) 0.933CDKL5, UBE3A, MECP2
primary metabolic process (GO:0044238) 0.693CDKL5, UBE3A, MECP2
protein metabolic process (GO:0019538) 1.453CDKL5, UBE3A, MECP2
cellular process (GO:0009987) 0.263CDKL5, UBE3A, MECP2
cellular protein modification process (GO:0006464) 1.793CDKL5, UBE3A, MECP2
regulation of cellular process (GO:0050794) 0.53CDKL5, UBE3A, MECP2
organic substance metabolic process (GO:0071704) 0.633CDKL5, UBE3A, MECP2
macromolecule modification (GO:0043412) 1.733CDKL5, UBE3A, MECP2
protein modification process (GO:0036211) 1.793CDKL5, UBE3A, MECP2
biological regulation (GO:0065007) 0.393CDKL5, UBE3A, MECP2
cellular metabolic process (GO:0044237) 0.693CDKL5, UBE3A, MECP2
metabolic process (GO:0008152) 0.583CDKL5, UBE3A, MECP2
positive regulation of biological process (GO:0048518) 1.23CDKL5, UBE3A, MECP2
macromolecule metabolic process (GO:0043170) 0.833CDKL5, UBE3A, MECP2
regulation of biological process (GO:0050789) 0.453CDKL5, UBE3A, MECP2
single-organism process (GO:0044699) 0.483CDKL5, UBE3A, MECP2
positive regulation of cellular process (GO:0048522) 1.33CDKL5, UBE3A, MECP2
positive regulation of cellular component organization (GO:0051130) 2.682CDKL5, MECP2
regulation of RNA metabolic process (GO:0051252) 1.522UBE3A, MECP2
positive regulation of metabolic process (GO:0009893) 1.742UBE3A, MECP2
regulation of metabolic process (GO:0019222) 1.022UBE3A, MECP2
positive regulation of biosynthetic process (GO:0009891) 2.292UBE3A, MECP2
regulation of protein metabolic process (GO:0051246) 1.932UBE3A, MECP2
positive regulation of cellular metabolic process (GO:0031325) 1.812UBE3A, MECP2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292UBE3A, MECP2
regulation of cellular metabolic process (GO:0031323) 1.072UBE3A, MECP2
regulation of cellular biosynthetic process (GO:0031326) 1.382UBE3A, MECP2
regulation of cellular component organization (GO:0051128) 2.012CDKL5, MECP2
positive regulation of signaling (GO:0023056) 2.412UBE3A, MECP2
positive regulation of gene expression (GO:0010628) 2.352UBE3A, MECP2
regulation of signaling (GO:0023051) 1.722UBE3A, MECP2
positive regulation of cell communication (GO:0010647) 2.412UBE3A, MECP2
regulation of cell communication (GO:0010646) 1.732UBE3A, MECP2
regulation of cell differentiation (GO:0045595) 2.422CDKL5, MECP2
regulation of primary metabolic process (GO:0080090) 1.082UBE3A, MECP2
regulation of neurogenesis (GO:0050767) 3.212CDKL5, MECP2
positive regulation of macromolecule metabolic process (GO:0010604) 1.812UBE3A, MECP2
regulation of transcription, DNA-templated (GO:0006355) 1.562UBE3A, MECP2
positive regulation of multicellular organismal process (GO:0051240) 2.492CDKL5, MECP2
positive regulation of cellular biosynthetic process (GO:0031328) 2.32UBE3A, MECP2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462UBE3A, MECP2
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392UBE3A, MECP2
regulation of cell development (GO:0060284) 3.012CDKL5, MECP2
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562UBE3A, MECP2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432UBE3A, MECP2
regulation of nervous system development (GO:0051960) 3.12CDKL5, MECP2
positive regulation of transcription, DNA-templated (GO:0045893) 2.562UBE3A, MECP2
regulation of protein modification process (GO:0031399) 2.322UBE3A, MECP2
regulation of gene expression (GO:0010468) 1.372UBE3A, MECP2
developmental process (GO:0032502) 1.362UBE3A, MECP2
multicellular organismal process (GO:0032501) 1.452UBE3A, MECP2
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352UBE3A, MECP2
regulation of developmental process (GO:0050793) 2.12CDKL5, MECP2
transport (GO:0006810) 1.512UBE3A, MECP2
regulation of biosynthetic process (GO:0009889) 1.372UBE3A, MECP2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552UBE3A, MECP2
single-organism developmental process (GO:0044767) 1.492UBE3A, MECP2
single-organism transport (GO:0044765) 2.182UBE3A, MECP2
single-organism cellular process (GO:0044763) 0.652CDKL5, MECP2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242UBE3A, MECP2
regulation of multicellular organismal process (GO:0051239) 1.872CDKL5, MECP2
regulation of RNA biosynthetic process (GO:2001141) 1.552UBE3A, MECP2
establishment of localization (GO:0051234) 1.482UBE3A, MECP2
localization (GO:0051179) 1.42UBE3A, MECP2
single-organism localization (GO:1902578) 2.092UBE3A, MECP2
multi-organism process (GO:0051704) 2.652UBE3A, MECP2
animal organ development (GO:0048513) 2.532UBE3A, MECP2
regulation of cellular protein metabolic process (GO:0032268) 1.992UBE3A, MECP2
brain development (GO:0007420) 4.242UBE3A, MECP2
single-multicellular organism process (GO:0044707) 1.782UBE3A, MECP2
positive regulation of developmental process (GO:0051094) 2.772CDKL5, MECP2
regulation of macromolecule metabolic process (GO:0060255) 1.082UBE3A, MECP2
anatomical structure development (GO:0048856) 1.582UBE3A, MECP2
positive regulation of RNA metabolic process (GO:0051254) 2.512UBE3A, MECP2
positive regulation of RNA biosynthetic process (GO:1902680) 2.542UBE3A, MECP2
positive regulation of nervous system development (GO:0051962) 3.642CDKL5, MECP2
phosphate-containing compound metabolic process (GO:0006796) 2.162CDKL5, MECP2
regulation of macromolecule biosynthetic process (GO:0010556) 1.432UBE3A, MECP2
regulation of multicellular organismal development (GO:2000026) 2.312CDKL5, MECP2
phosphorus metabolic process (GO:0006793) 2.152CDKL5, MECP2
regulation of nitrogen compound metabolic process (GO:0051171) 1.362UBE3A, MECP2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.013CDKL5, UBE3A, MECP2
intracellular membrane-bounded organelle (GO:0043231) 0.63CDKL5, UBE3A, MECP2
nucleus (GO:0005634) 1.073CDKL5, UBE3A, MECP2
cell part (GO:0044464) 0.113CDKL5, UBE3A, MECP2
cytoplasmic part (GO:0044444) 0.823CDKL5, UBE3A, MECP2
intracellular organelle (GO:0043229) 0.513CDKL5, UBE3A, MECP2
intracellular part (GO:0044424) 0.283CDKL5, UBE3A, MECP2
membrane-bounded organelle (GO:0043227) 0.473CDKL5, UBE3A, MECP2
organelle (GO:0043226) 0.43CDKL5, UBE3A, MECP2
protein complex (GO:0043234) 1.512UBE3A, MECP2
macromolecular complex (GO:0032991) 1.352UBE3A, MECP2
cytosol (GO:0005829) 1.682UBE3A, MECP2
intracellular organelle part (GO:0044446) 0.812CDKL5, MECP2
nuclear part (GO:0044428) 1.552CDKL5, MECP2
organelle part (GO:0044422) 0.792CDKL5, MECP2

NET-GE enrichment

Term New enriched termICP valueGenes
cell projection cytoplasm (GO:0032838) NEW5.890.0CDKL5, MECP2
dendrite cytoplasm (GO:0032839) NEW7.030.0CDKL5, MECP2