Disease table of COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS OMIM ID: 233650

Gene-disease associations table

GeneAssociated with COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RAG2ClinVar, OMIM, HUMSAVARHGNC link11p123603554, 601457, 233650
RAG1ClinVar, OMIM, HUMSAVARHGNC link11p124603554, 233650, 609889, 601457

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11p122RAG2, RAG1
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11p122RAG2, RAG1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11p12RAG2, RAG1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11p2RAG2, RAG1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
112RAG2, RAG1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
RAG2YES6LEF1, EGR1, NFATC1, MYB, HMGA1, PAX50
RAG1YES3FOXP1, TCF3, FOXO10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
RAG2RAG1Yes2VPRBP, DDB1

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
RAG2RAG1YesRAG1-RAG2 tetramer complex0

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

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Primary immunodeficiencyhsa053407.522RAG1, RAG2
FoxO signaling pathwayhsa040685.632RAG1, RAG2

NET-GE enrichment

Term New enriched termICP valueGenes
Immune diseasesNEW4.470.04RAG1, RAG2
Primary immunodeficiency (hsa05340) -7.520.001RAG1, RAG2
FoxO signaling pathway (hsa04068) -5.630.008RAG1, RAG2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MAPK6/MAPK4 signalingR-HSA-56871286.542RAG1, RAG2
MAPK family signaling cascadesR-HSA-56830574.892RAG1, RAG2
Signal TransductionR-HSA-1625821.782RAG1, RAG2

NET-GE enrichment

Term New enriched termICP valueGenes
MAPK6/MAPK4 signaling (R-HSA-5687128) -6.540.0RAG1, RAG2
MAPK family signaling cascades (R-HSA-5683057) -4.890.014RAG1, RAG2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
ubiquitin-like protein transferase activity (GO:0019787) 3.692RAG1, RAG2
cation binding (GO:0043169) 1.42RAG1, RAG2
zinc ion binding (GO:0008270) 2.662RAG1, RAG2
histone binding (GO:0042393) 4.722RAG1, RAG2
protein binding (GO:0005515) 0.462RAG1, RAG2
transition metal ion binding (GO:0046914) 2.482RAG1, RAG2
ubiquitin protein ligase activity (GO:0061630) 4.472RAG1, RAG2
organic cyclic compound binding (GO:0097159) 1.052RAG1, RAG2
ion binding (GO:0043167) 1.362RAG1, RAG2
catalytic activity (GO:0003824) 1.052RAG1, RAG2
transferase activity (GO:0016740) 1.952RAG1, RAG2
binding (GO:0005488) 0.182RAG1, RAG2
nucleic acid binding (GO:0003676) 1.442RAG1, RAG2
DNA binding (GO:0003677) 1.922RAG1, RAG2
metal ion binding (GO:0046872) 1.412RAG1, RAG2
ubiquitin-protein transferase activity (GO:0004842) 3.732RAG1, RAG2
heterocyclic compound binding (GO:1901363) 1.062RAG1, RAG2
ubiquitin-like protein ligase activity (GO:0061659) 4.442RAG1, RAG2

NET-GE enrichment

Term New enriched termICP valueGenes
histone binding (GO:0042393) -4.720.002RAG1, RAG2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692RAG1, RAG2
single organismal cell-cell adhesion (GO:0016337) 3.692RAG1, RAG2
regulation of multicellular organismal process (GO:0051239) 1.872RAG1, RAG2
regulation of metabolic process (GO:0019222) 1.022RAG1, RAG2
V(D)J recombination (GO:0033151) 6.92RAG1, RAG2
macromolecular complex subunit organization (GO:0043933) 2.142RAG1, RAG2
cell differentiation (GO:0030154) 2.142RAG1, RAG2
regulation of developmental process (GO:0050793) 2.12RAG1, RAG2
nucleobase-containing compound metabolic process (GO:0006139) 1.352RAG1, RAG2
T cell activation (GO:0042110) 4.452RAG1, RAG2
nucleic acid metabolic process (GO:0090304) 1.462RAG1, RAG2
leukocyte activation (GO:0045321) 3.762RAG1, RAG2
cellular nitrogen compound metabolic process (GO:0034641) 1.222RAG1, RAG2
nitrogen compound metabolic process (GO:0006807) 1.132RAG1, RAG2
regulation of biological process (GO:0050789) 0.452RAG1, RAG2
organic cyclic compound metabolic process (GO:1901360) 1.262RAG1, RAG2
cellular protein metabolic process (GO:0044267) 1.632RAG1, RAG2
cellular macromolecule metabolic process (GO:0044260) 0.932RAG1, RAG2
organic substance metabolic process (GO:0071704) 0.632RAG1, RAG2
chromatin organization (GO:0006325) 3.282RAG1, RAG2
cellular developmental process (GO:0048869) 1.822RAG1, RAG2
positive regulation of multicellular organismal process (GO:0051240) 2.492RAG1, RAG2
B cell differentiation (GO:0030183) 5.242RAG1, RAG2
protein modification by small protein conjugation or removal (GO:0070647) 2.952RAG1, RAG2
cellular component organization (GO:0016043) 1.242RAG1, RAG2
protein modification by small protein conjugation (GO:0032446) 3.12RAG1, RAG2
biological regulation (GO:0065007) 0.392RAG1, RAG2
cellular component organization or biogenesis (GO:0071840) 1.222RAG1, RAG2
positive regulation of biological process (GO:0048518) 1.22RAG1, RAG2
somatic diversification of immune receptors (GO:0002200) 5.922RAG1, RAG2
lymphocyte aggregation (GO:0071593) 4.442RAG1, RAG2
thymocyte aggregation (GO:0071594) 6.332RAG1, RAG2
regulation of gene expression (GO:0010468) 1.372RAG1, RAG2
single organism cell adhesion (GO:0098602) 3.632RAG1, RAG2
T cell differentiation in thymus (GO:0033077) 6.332RAG1, RAG2
T cell differentiation (GO:0030217) 5.112RAG1, RAG2
regulation of macromolecule metabolic process (GO:0060255) 1.082RAG1, RAG2
cellular process (GO:0009987) 0.262RAG1, RAG2
cellular aromatic compound metabolic process (GO:0006725) 1.32RAG1, RAG2
cellular protein modification process (GO:0006464) 1.792RAG1, RAG2
B cell activation (GO:0042113) 4.842RAG1, RAG2
cell activation (GO:0001775) 3.472RAG1, RAG2
lymphocyte activation (GO:0046649) 3.962RAG1, RAG2
T cell aggregation (GO:0070489) 4.452RAG1, RAG2
metabolic process (GO:0008152) 0.582RAG1, RAG2
cell adhesion (GO:0007155) 2.822RAG1, RAG2
leukocyte aggregation (GO:0070486) 4.412RAG1, RAG2
leukocyte cell-cell adhesion (GO:0007159) 4.262RAG1, RAG2
leukocyte differentiation (GO:0002521) 4.132RAG1, RAG2
heterocycle metabolic process (GO:0046483) 1.312RAG1, RAG2
DNA recombination (GO:0006310) 4.392RAG1, RAG2
somatic diversification of immune receptors via germline recombination within a single locus (GO:0002562) 6.232RAG1, RAG2
single-organism process (GO:0044699) 0.482RAG1, RAG2
biological adhesion (GO:0022610) 2.812RAG1, RAG2
positive regulation of developmental process (GO:0051094) 2.772RAG1, RAG2
protein metabolic process (GO:0019538) 1.452RAG1, RAG2
macromolecule modification (GO:0043412) 1.732RAG1, RAG2
cellular metabolic process (GO:0044237) 0.692RAG1, RAG2
macromolecule metabolic process (GO:0043170) 0.832RAG1, RAG2
immune system process (GO:0002376) 2.292RAG1, RAG2
protein ubiquitination (GO:0016567) 3.282RAG1, RAG2
protein modification process (GO:0036211) 1.792RAG1, RAG2
lymphocyte differentiation (GO:0030098) 4.492RAG1, RAG2
DNA metabolic process (GO:0006259) 3.092RAG1, RAG2
single-organism cellular process (GO:0044763) 0.652RAG1, RAG2
pre-B cell allelic exclusion (GO:0002331) 8.632RAG1, RAG2
cell-cell adhesion (GO:0098609) 3.342RAG1, RAG2
somatic cell DNA recombination (GO:0016444) 6.232RAG1, RAG2
chromatin modification (GO:0016568) 4.062RAG1, RAG2

NET-GE enrichment

Term New enriched termICP valueGenes
DNA recombination (GO:0006310) -4.390.017RAG1, RAG2
somatic diversification of immune receptors via germline recombination within a single locus (GO:0002562) -6.230.001RAG1, RAG2
T cell differentiation in thymus (GO:0033077) -6.330.002RAG1, RAG2
V(D)J recombination (GO:0033151) -6.90.0RAG1, RAG2
T cell differentiation (GO:0030217) -5.110.031RAG1, RAG2
B cell differentiation (GO:0030183) -5.240.003RAG1, RAG2
B cell activation (GO:0042113) -4.840.007RAG1, RAG2
T cell activation (GO:0042110) -4.450.015RAG1, RAG2
lymphocyte activation (GO:0046649) -3.960.037RAG1, RAG2
lymphocyte differentiation (GO:0030098) -4.490.012RAG1, RAG2
somatic diversification of immune receptors (GO:0002200) -5.920.001RAG1, RAG2
pre-B cell allelic exclusion (GO:0002331) -8.630.0RAG1, RAG2
somatic cell DNA recombination (GO:0016444) -6.230.001RAG1, RAG2
leukocyte differentiation (GO:0002521) -4.130.026RAG1, RAG2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
nucleoplasm (GO:0005654) 1.892RAG1, RAG2
intracellular membrane-bounded organelle (GO:0043231) 0.62RAG1, RAG2
nucleus (GO:0005634) 1.072RAG1, RAG2
cell part (GO:0044464) 0.112RAG1, RAG2
intracellular organelle part (GO:0044446) 0.812RAG1, RAG2
intracellular organelle (GO:0043229) 0.512RAG1, RAG2
nuclear part (GO:0044428) 1.552RAG1, RAG2
intracellular part (GO:0044424) 0.282RAG1, RAG2
membrane-bounded organelle (GO:0043227) 0.472RAG1, RAG2
organelle (GO:0043226) 0.42RAG1, RAG2
organelle part (GO:0044422) 0.792RAG1, RAG2