Disease table of IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES OMIM ID: PS242860

Gene-disease associations table

GeneAssociated with IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
DNMT3BClinVar, OMIM, HUMSAVARHGNC link20q11.211PS242860
HELLSClinVar, OMIMHGNC link10q23.331PS242860
CDCA7ClinVar, OMIMHGNC link2q31.11PS242860
ZBTB24ClinVar, OMIM, HUMSAVARHGNC link6q211PS242860

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
DNMT3BYES3SP1, SP3, SP20
CDCA7YES2MYC, E2F10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
DNMT3BHELLSYes3HDAC2, HDAC1, DNMT1
DNMT3BZBTB24No1SUV39H1
HELLSCDCA7No1APP
HELLSZBTB24No1HIST1H2BG

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
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
organic cyclic compound binding (GO:0097159) 1.053HELLS, DNMT3B, ZBTB24
heterocyclic compound binding (GO:1901363) 1.063HELLS, DNMT3B, ZBTB24
protein binding (GO:0005515) 0.463HELLS, DNMT3B, ZBTB24
binding (GO:0005488) 0.183HELLS, DNMT3B, ZBTB24
cation binding (GO:0043169) 1.42DNMT3B, ZBTB24
chromatin binding (GO:0003682) 3.642HELLS, DNMT3B
ion binding (GO:0043167) 1.362DNMT3B, ZBTB24
catalytic activity (GO:0003824) 1.052HELLS, DNMT3B
macromolecular complex binding (GO:0044877) 2.612HELLS, DNMT3B
nucleic acid binding (GO:0003676) 1.442DNMT3B, ZBTB24
DNA binding (GO:0003677) 1.922DNMT3B, ZBTB24
metal ion binding (GO:0046872) 1.412DNMT3B, ZBTB24

NET-GE enrichment

Term New enriched termICP valueGenes
DNA (cytosine-5-)-methyltransferase activity (GO:0003886) NEW8.350.031HELLS, DNMT3B
DNA-methyltransferase activity (GO:0009008) NEW8.130.039HELLS, DNMT3B
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.434HELLS, CDCA7, DNMT3B, ZBTB24
regulation of primary metabolic process (GO:0080090) 1.084HELLS, CDCA7, DNMT3B, ZBTB24
regulation of metabolic process (GO:0019222) 1.024HELLS, CDCA7, DNMT3B, ZBTB24
regulation of cellular biosynthetic process (GO:0031326) 1.384HELLS, CDCA7, DNMT3B, ZBTB24
regulation of cellular metabolic process (GO:0031323) 1.074HELLS, CDCA7, DNMT3B, ZBTB24
nucleic acid metabolic process (GO:0090304) 1.464HELLS, CDCA7, DNMT3B, ZBTB24
cellular nitrogen compound metabolic process (GO:0034641) 1.224HELLS, CDCA7, DNMT3B, ZBTB24
nitrogen compound metabolic process (GO:0006807) 1.134HELLS, CDCA7, DNMT3B, ZBTB24
regulation of biological process (GO:0050789) 0.454HELLS, CDCA7, DNMT3B, ZBTB24
single-organism process (GO:0044699) 0.484HELLS, CDCA7, DNMT3B, ZBTB24
nucleobase-containing compound metabolic process (GO:0006139) 1.354HELLS, CDCA7, DNMT3B, ZBTB24
cellular macromolecule metabolic process (GO:0044260) 0.934HELLS, CDCA7, DNMT3B, ZBTB24
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.464HELLS, CDCA7, DNMT3B, ZBTB24
organic substance metabolic process (GO:0071704) 0.634HELLS, CDCA7, DNMT3B, ZBTB24
biological regulation (GO:0065007) 0.394HELLS, CDCA7, DNMT3B, ZBTB24
organic cyclic compound metabolic process (GO:1901360) 1.264HELLS, CDCA7, DNMT3B, ZBTB24
regulation of gene expression (GO:0010468) 1.374HELLS, CDCA7, DNMT3B, ZBTB24
regulation of macromolecule metabolic process (GO:0060255) 1.084HELLS, CDCA7, DNMT3B, ZBTB24
cellular aromatic compound metabolic process (GO:0006725) 1.34HELLS, CDCA7, DNMT3B, ZBTB24
cellular process (GO:0009987) 0.264HELLS, CDCA7, DNMT3B, ZBTB24
regulation of biosynthetic process (GO:0009889) 1.374HELLS, CDCA7, DNMT3B, ZBTB24
regulation of nucleic acid-templated transcription (GO:1903506) 1.554HELLS, CDCA7, DNMT3B, ZBTB24
regulation of cellular process (GO:0050794) 0.54HELLS, CDCA7, DNMT3B, ZBTB24
single-organism cellular process (GO:0044763) 0.654HELLS, CDCA7, DNMT3B, ZBTB24
regulation of nitrogen compound metabolic process (GO:0051171) 1.364HELLS, CDCA7, DNMT3B, ZBTB24
metabolic process (GO:0008152) 0.584HELLS, CDCA7, DNMT3B, ZBTB24
regulation of RNA biosynthetic process (GO:2001141) 1.554HELLS, CDCA7, DNMT3B, ZBTB24
heterocycle metabolic process (GO:0046483) 1.314HELLS, CDCA7, DNMT3B, ZBTB24
primary metabolic process (GO:0044238) 0.694HELLS, CDCA7, DNMT3B, ZBTB24
regulation of RNA metabolic process (GO:0051252) 1.524HELLS, CDCA7, DNMT3B, ZBTB24
cellular metabolic process (GO:0044237) 0.694HELLS, CDCA7, DNMT3B, ZBTB24
macromolecule metabolic process (GO:0043170) 0.834HELLS, CDCA7, DNMT3B, ZBTB24
regulation of transcription, DNA-templated (GO:0006355) 1.564HELLS, CDCA7, DNMT3B, ZBTB24
regulation of macromolecule biosynthetic process (GO:0010556) 1.434HELLS, CDCA7, DNMT3B, ZBTB24
RNA metabolic process (GO:0016070) 1.593HELLS, CDCA7, ZBTB24
organic substance biosynthetic process (GO:1901576) 1.343HELLS, CDCA7, ZBTB24
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593HELLS, CDCA7, ZBTB24
RNA biosynthetic process (GO:0032774) 1.843HELLS, CDCA7, ZBTB24
cellular biosynthetic process (GO:0044249) 1.373HELLS, CDCA7, ZBTB24
biosynthetic process (GO:0009058) 1.323HELLS, CDCA7, ZBTB24
macromolecule biosynthetic process (GO:0009059) 1.613HELLS, CDCA7, ZBTB24
transcription, DNA-templated (GO:0006351) 1.913HELLS, CDCA7, ZBTB24
cellular macromolecule biosynthetic process (GO:0034645) 1.663HELLS, CDCA7, ZBTB24
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723HELLS, CDCA7, ZBTB24
aromatic compound biosynthetic process (GO:0019438) 1.73HELLS, CDCA7, ZBTB24
organic cyclic compound biosynthetic process (GO:1901362) 1.663HELLS, CDCA7, ZBTB24
nucleic acid-templated transcription (GO:0097659) 1.913HELLS, CDCA7, ZBTB24
heterocycle biosynthetic process (GO:0018130) 1.73HELLS, CDCA7, ZBTB24
negative regulation of metabolic process (GO:0009892) 1.932HELLS, DNMT3B
negative regulation of biosynthetic process (GO:0009890) 2.472HELLS, DNMT3B
negative regulation of cellular biosynthetic process (GO:0031327) 2.492HELLS, DNMT3B
negative regulation of cellular metabolic process (GO:0031324) 2.012HELLS, DNMT3B
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62HELLS, DNMT3B
negative regulation of gene expression (GO:0010629) 2.482HELLS, DNMT3B
cell division (GO:0051301) 3.682HELLS, CDCA7
DNA methylation (GO:0006306) 5.922HELLS, DNMT3B
single-organism metabolic process (GO:0044710) 1.632HELLS, DNMT3B
DNA modification (GO:0006304) 5.362HELLS, DNMT3B
negative regulation of macromolecule metabolic process (GO:0010605) 2.012HELLS, DNMT3B
regulation of gene expression, epigenetic (GO:0040029) 4.582HELLS, DNMT3B
negative regulation of biological process (GO:0048519) 1.332HELLS, DNMT3B
negative regulation of gene expression, epigenetic (GO:0045814) 5.372HELLS, DNMT3B
methylation (GO:0032259) 4.062HELLS, DNMT3B
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552HELLS, DNMT3B
DNA alkylation (GO:0006305) 5.922HELLS, DNMT3B
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712HELLS, DNMT3B
negative regulation of RNA biosynthetic process (GO:1902679) 2.72HELLS, DNMT3B
macromolecule modification (GO:0043412) 1.732HELLS, DNMT3B
DNA methylation or demethylation (GO:0044728) 5.652HELLS, DNMT3B
macromolecule methylation (GO:0043414) 4.422HELLS, DNMT3B
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472HELLS, DNMT3B
negative regulation of RNA metabolic process (GO:0051253) 2.662HELLS, DNMT3B
DNA metabolic process (GO:0006259) 3.092HELLS, DNMT3B
negative regulation of transcription, DNA-templated (GO:0045892) 2.752HELLS, DNMT3B
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532HELLS, DNMT3B
negative regulation of cellular process (GO:0048523) 1.412HELLS, DNMT3B

NET-GE enrichment

Term New enriched termICP valueGenes
DNA methylation (GO:0006306) -5.920.042HELLS, DNMT3B
DNA alkylation (GO:0006305) -5.920.042HELLS, DNMT3B
C-5 methylation of cytosine (GO:0090116) NEW8.340.0HELLS, DNMT3B
DNA methylation or demethylation (GO:0044728) -5.650.012HELLS, DNMT3B
chromatin silencing (GO:0006342) NEW5.620.002HELLS, DNMT3B
methylation-dependent chromatin silencing (GO:0006346) NEW7.330.0HELLS, DNMT3B
gene silencing (GO:0016458) NEW4.60.015HELLS, DNMT3B
DNA modification (GO:0006304) -5.360.021HELLS, DNMT3B
negative regulation of gene expression, epigenetic (GO:0045814) -5.370.003HELLS, DNMT3B
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.64HELLS, CDCA7, DNMT3B, ZBTB24
nucleus (GO:0005634) 1.074HELLS, CDCA7, DNMT3B, ZBTB24
cell part (GO:0044464) 0.114HELLS, CDCA7, DNMT3B, ZBTB24
intracellular organelle (GO:0043229) 0.514HELLS, CDCA7, DNMT3B, ZBTB24
intracellular part (GO:0044424) 0.284HELLS, CDCA7, DNMT3B, ZBTB24
membrane-bounded organelle (GO:0043227) 0.474HELLS, CDCA7, DNMT3B, ZBTB24
organelle (GO:0043226) 0.44HELLS, CDCA7, DNMT3B, ZBTB24
intracellular organelle part (GO:0044446) 0.813HELLS, CDCA7, DNMT3B
organelle part (GO:0044422) 0.793HELLS, CDCA7, DNMT3B
cytoplasm (GO:0005737) 1.012CDCA7, DNMT3B
nucleoplasm (GO:0005654) 1.892CDCA7, DNMT3B
nuclear part (GO:0044428) 1.552CDCA7, DNMT3B

NET-GE enrichment

Term New enriched termICP valueGenes
heterochromatin (GO:0000792) NEW5.660.002HELLS, DNMT3B
nuclear chromatin (GO:0000790) NEW4.420.046HELLS, DNMT3B
chromatin (GO:0000785) NEW3.990.028HELLS, DNMT3B
chromosome, centromeric region (GO:0000775) NEW4.850.001HELLS, DNMT3B
protein-DNA complex (GO:0032993) NEW5.030.03HELLS, DNMT3B