Disease table of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME OMIM ID: PS257300

Gene-disease associations table

GeneAssociated with MOSAIC VARIEGATED ANEUPLOIDY SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CEP57ClinVar, OMIMHGNC link11q211PS257300
BUB1BClinVar, OMIM, HUMSAVARHGNC link15q15.13PS257300, 176430, 114500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
BUB1BYES1ZNF1430
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CEP57BUB1BNo1HSPB1

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
CEP57BUB1BNo-11CDK1, PAFAH1B1, CKAP5, AJUBA, AURKA, MAPRE1, PLK1, CLASP1, NEK2, UBC, NDE1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell CycleR-HSA-16401703.892BUB1B, CEP57
Cell Cycle, MitoticR-HSA-692784.162BUB1B, CEP57
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182BUB1B, CEP57
protein binding (GO:0005515) 0.462BUB1B, CEP57

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule binding (GO:0008017) NEW4.420.033BUB1B, CEP57
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle organization (GO:0006996) 2.022BUB1B, CEP57
protein localization (GO:0008104) 2.362BUB1B, CEP57
chromosome organization (GO:0051276) 3.792BUB1B, CEP57
mitotic cell cycle process (GO:1903047) 3.122BUB1B, CEP57
cellular process (GO:0009987) 0.262BUB1B, CEP57
single-organism cellular process (GO:0044763) 0.652BUB1B, CEP57
cellular component organization (GO:0016043) 1.242BUB1B, CEP57
regulation of cellular process (GO:0050794) 0.52BUB1B, CEP57
cell cycle phase transition (GO:0044770) 4.242BUB1B, CEP57
mitotic cell cycle phase transition (GO:0044772) 4.272BUB1B, CEP57
biological regulation (GO:0065007) 0.392BUB1B, CEP57
single-organism process (GO:0044699) 0.482BUB1B, CEP57
cell cycle process (GO:0022402) 2.752BUB1B, CEP57
localization (GO:0051179) 1.42BUB1B, CEP57
macromolecule localization (GO:0033036) 2.342BUB1B, CEP57
regulation of biological process (GO:0050789) 0.452BUB1B, CEP57
cellular component organization or biogenesis (GO:0071840) 1.222BUB1B, CEP57
cellular localization (GO:0051641) 2.322BUB1B, CEP57

NET-GE enrichment

Term New enriched termICP valueGenes
cell cycle phase transition (GO:0044770) -4.240.042BUB1B, CEP57
mitotic cell cycle phase transition (GO:0044772) -4.270.041BUB1B, CEP57
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012BUB1B, CEP57
cytoskeleton (GO:0005856) 2.552BUB1B, CEP57
cytosol (GO:0005829) 1.682BUB1B, CEP57
intracellular membrane-bounded organelle (GO:0043231) 0.62BUB1B, CEP57
intracellular non-membrane-bounded organelle (GO:0043232) 1.762BUB1B, CEP57
nucleus (GO:0005634) 1.072BUB1B, CEP57
cell part (GO:0044464) 0.112BUB1B, CEP57
cytoplasmic part (GO:0044444) 0.822BUB1B, CEP57
microtubule organizing center (GO:0005815) 3.422BUB1B, CEP57
intracellular organelle part (GO:0044446) 0.812BUB1B, CEP57
intracellular organelle (GO:0043229) 0.512BUB1B, CEP57
non-membrane-bounded organelle (GO:0043228) 1.762BUB1B, CEP57
nuclear part (GO:0044428) 1.552BUB1B, CEP57
cytoskeletal part (GO:0044430) 2.492BUB1B, CEP57
intracellular part (GO:0044424) 0.282BUB1B, CEP57
membrane-bounded organelle (GO:0043227) 0.472BUB1B, CEP57
organelle (GO:0043226) 0.42BUB1B, CEP57
organelle part (GO:0044422) 0.792BUB1B, CEP57

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule organizing center (GO:0005815) -3.420.029BUB1B, CEP57