Disease table of RHABDOMYOSARCOMA 2 OMIM ID: 268220

Gene-disease associations table

GeneAssociated with RHABDOMYOSARCOMA 2 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FOXO1OMIMHGNC link13q14.111268220
PAX7OMIMHGNC link1p36.131268220
PAX3OMIMHGNC link2q36.14268220, PS193500, 142340, 122880

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
FOXO1YES19STAT3, RAG1, EDN1, CDKN1B, FABP4, TNFSF10, LHB, NKX6-1, CXCR4, IL6, EGR1, PRL, NEUROG3, HYOU1, TXNIP, IRS2, ADIPOR1, KLF2, IGFBP10
PAX3YES6BCL2L1, DPYSL2, MET, CXCR4, MITF, SHH0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
FOXO1YES3PARP1, XBP1, FOXC10
PAX3YES3POU3F2, STAT3, TEAD10
CXCR4NO24IRF2, BCL6, NRF1, SNAI2, CREB1, KLF5, USF2, HDAC3, DNMT1, FOXO1, ERG, VHL, CREB3, PAX3, RELA, NFKB1, ETS1, HIF1A, YY1, YBX1, KLF2, MYC, ZBTB16, USF12PAX3, FOXO1
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
FOXO1PAX7No-1NOTCH1
FOXO1PAX3No-3UBC, ATIC, RUNX2
PAX7PAX3No-10EYA2, BMP4, SIX1, DACH2, EYA4, DACH1, MYF5, EYA1, MYOD1, SHH

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
Gene1Gene2Direct interactionMore information
PAX3PAX7yes, complexPAX7 can bind to DNA as a heterodimer with PAX3. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Transcriptional misregulation in cancerhsa052025.213PAX3, PAX7, FOXO1

NET-GE enrichment

Term New enriched termICP valueGenes
Transcriptional misregulation in cancer (hsa05202) -5.210.0PAX3, PAX7, FOXO1
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
sequence-specific DNA binding (GO:0043565) 2.793PAX3, PAX7, FOXO1
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.653PAX3, PAX7, FOXO1
organic cyclic compound binding (GO:0097159) 1.053PAX3, FOXO1, PAX7
binding (GO:0005488) 0.183PAX3, PAX7, FOXO1
nucleic acid binding (GO:0003676) 1.443PAX3, PAX7, FOXO1
DNA binding (GO:0003677) 1.923PAX3, PAX7, FOXO1
heterocyclic compound binding (GO:1901363) 1.063PAX3, PAX7, FOXO1
nucleic acid binding transcription factor activity (GO:0001071) 2.653PAX3, FOXO1, PAX7
protein binding (GO:0005515) 0.462PAX3, FOXO1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292FOXO1, PAX7

NET-GE enrichment

Term New enriched termICP valueGenes
sequence-specific DNA binding (GO:0043565) -2.790.002PAX3, PAX7, FOXO1
monooxygenase activity (GO:0004497) NEW5.10.0PAX3, PAX7, FOXO1
cytokine activity (GO:0005125) NEW4.340.006PAX3, PAX7, FOXO1
growth factor activity (GO:0008083) NEW4.660.003PAX3, PAX7, FOXO1
sequence-specific DNA binding transcription factor activity (GO:0003700) -2.650.007PAX3, PAX7, FOXO1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) NEW4.650.002PAX3, PAX7, FOXO1
RNA polymerase II regulatory region DNA binding (GO:0001012) NEW3.360.018PAX3, PAX7, FOXO1
core promoter proximal region DNA binding (GO:0001159) NEW3.820.004PAX3, PAX7, FOXO1
transcription regulatory region sequence-specific DNA binding (GO:0000976) NEW3.240.026PAX3, PAX7, FOXO1
nucleic acid binding transcription factor activity (GO:0001071) -2.650.007PAX3, FOXO1, PAX7
core promoter proximal region sequence-specific DNA binding (GO:0000987) NEW3.830.004PAX3, PAX7, FOXO1
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978) NEW3.880.004PAX3, FOXO1, PAX7
chromatin binding (GO:0003682) NEW3.640.042PAX3, PAX7, FOXO1
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982) NEW3.940.007PAX3, PAX7, FOXO1
sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) -3.290.043PAX3, FOXO1, PAX7
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) NEW3.370.017PAX3, FOXO1, PAX7
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.563PAX3, PAX7, FOXO1
regulation of RNA metabolic process (GO:0051252) 1.523PAX3, FOXO1, PAX7
RNA biosynthetic process (GO:0032774) 1.843PAX3, PAX7, FOXO1
positive regulation of metabolic process (GO:0009893) 1.743PAX3, PAX7, FOXO1
regulation of metabolic process (GO:0019222) 1.023PAX3, PAX7, FOXO1
positive regulation of biosynthetic process (GO:0009891) 2.293PAX3, PAX7, FOXO1
regulation of cellular biosynthetic process (GO:0031326) 1.383PAX3, FOXO1, PAX7
positive regulation of cellular metabolic process (GO:0031325) 1.813PAX3, FOXO1, PAX7
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293PAX3, FOXO1, PAX7
regulation of cellular metabolic process (GO:0031323) 1.073PAX3, PAX7, FOXO1
nucleic acid metabolic process (GO:0090304) 1.463PAX3, FOXO1, PAX7
cellular biosynthetic process (GO:0044249) 1.373PAX3, PAX7, FOXO1
cellular nitrogen compound metabolic process (GO:0034641) 1.223PAX3, PAX7, FOXO1
nitrogen compound metabolic process (GO:0006807) 1.133PAX3, FOXO1, PAX7
positive regulation of gene expression (GO:0010628) 2.353PAX3, FOXO1, PAX7
cellular macromolecule biosynthetic process (GO:0034645) 1.663PAX3, PAX7, FOXO1
cellular aromatic compound metabolic process (GO:0006725) 1.33PAX3, PAX7, FOXO1
organic cyclic compound biosynthetic process (GO:1901362) 1.663PAX3, PAX7, FOXO1
regulation of biological process (GO:0050789) 0.453PAX3, PAX7, FOXO1
nucleic acid-templated transcription (GO:0097659) 1.913PAX3, PAX7, FOXO1
regulation of primary metabolic process (GO:0080090) 1.083PAX3, PAX7, FOXO1
nucleobase-containing compound metabolic process (GO:0006139) 1.353PAX3, PAX7, FOXO1
positive regulation of macromolecule metabolic process (GO:0010604) 1.813PAX3, FOXO1, PAX7
cellular macromolecule metabolic process (GO:0044260) 0.933PAX3, PAX7, FOXO1
cellular developmental process (GO:0048869) 1.823PAX3, PAX7, FOXO1
positive regulation of cellular biosynthetic process (GO:0031328) 2.33PAX3, PAX7, FOXO1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463PAX3, FOXO1, PAX7
organic substance metabolic process (GO:0071704) 0.633PAX3, PAX7, FOXO1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243PAX3, PAX7, FOXO1
biological regulation (GO:0065007) 0.393PAX3, PAX7, FOXO1
organic cyclic compound metabolic process (GO:1901360) 1.263PAX3, FOXO1, PAX7
positive regulation of biological process (GO:0048518) 1.23PAX3, FOXO1, PAX7
regulation of gene expression (GO:0010468) 1.373PAX3, FOXO1, PAX7
heterocycle biosynthetic process (GO:0018130) 1.73PAX3, FOXO1, PAX7
developmental process (GO:0032502) 1.363PAX3, FOXO1, PAX7
multicellular organismal process (GO:0032501) 1.453PAX3, PAX7, FOXO1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353PAX3, FOXO1, PAX7
organic substance biosynthetic process (GO:1901576) 1.343PAX3, FOXO1, PAX7
regulation of macromolecule metabolic process (GO:0060255) 1.083PAX3, PAX7, FOXO1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433PAX3, FOXO1, PAX7
cellular process (GO:0009987) 0.263PAX3, FOXO1, PAX7
regulation of biosynthetic process (GO:0009889) 1.373PAX3, PAX7, FOXO1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553PAX3, PAX7, FOXO1
regulation of cellular process (GO:0050794) 0.53PAX3, PAX7, FOXO1
single-organism developmental process (GO:0044767) 1.493PAX3, PAX7, FOXO1
biosynthetic process (GO:0009058) 1.323PAX3, FOXO1, PAX7
macromolecule biosynthetic process (GO:0009059) 1.613PAX3, PAX7, FOXO1
single-organism cellular process (GO:0044763) 0.653PAX3, PAX7, FOXO1
positive regulation of transcription, DNA-templated (GO:0045893) 2.563PAX3, PAX7, FOXO1
metabolic process (GO:0008152) 0.583PAX3, PAX7, FOXO1
regulation of RNA biosynthetic process (GO:2001141) 1.553PAX3, PAX7, FOXO1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723PAX3, FOXO1, PAX7
heterocycle metabolic process (GO:0046483) 1.313PAX3, FOXO1, PAX7
RNA metabolic process (GO:0016070) 1.593PAX3, PAX7, FOXO1
primary metabolic process (GO:0044238) 0.693PAX3, PAX7, FOXO1
single-organism process (GO:0044699) 0.483PAX3, PAX7, FOXO1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593PAX3, FOXO1, PAX7
single-multicellular organism process (GO:0044707) 1.783PAX3, PAX7, FOXO1
anatomical structure development (GO:0048856) 1.583PAX3, PAX7, FOXO1
positive regulation of RNA metabolic process (GO:0051254) 2.513PAX3, PAX7, FOXO1
cellular metabolic process (GO:0044237) 0.693PAX3, PAX7, FOXO1
macromolecule metabolic process (GO:0043170) 0.833PAX3, PAX7, FOXO1
positive regulation of RNA biosynthetic process (GO:1902680) 2.543PAX3, FOXO1, PAX7
regulation of transcription, DNA-templated (GO:0006355) 1.563PAX3, PAX7, FOXO1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393PAX3, FOXO1, PAX7
regulation of macromolecule biosynthetic process (GO:0010556) 1.433PAX3, FOXO1, PAX7
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.813PAX3, PAX7, FOXO1
transcription, DNA-templated (GO:0006351) 1.913PAX3, FOXO1, PAX7
aromatic compound biosynthetic process (GO:0019438) 1.73PAX3, PAX7, FOXO1
positive regulation of cellular process (GO:0048522) 1.33PAX3, FOXO1, PAX7
regulation of nitrogen compound metabolic process (GO:0051171) 1.363PAX3, FOXO1, PAX7
cell differentiation (GO:0030154) 2.142FOXO1, PAX7
muscle structure development (GO:0061061) 4.962PAX3, PAX7
cell death (GO:0008219) 3.052PAX3, FOXO1
regulation of cell death (GO:0010941) 2.432PAX7, FOXO1
regulation of apoptotic process (GO:0042981) 2.52PAX7, FOXO1
multicellular organism development (GO:0007275) 2.542PAX3, PAX7
cellular component organization or biogenesis (GO:0071840) 1.222PAX3, PAX7
muscle organ development (GO:0007517) 4.982PAX3, PAX7
anatomical structure morphogenesis (GO:0009653) 2.532PAX3, PAX7
regulation of protein metabolic process (GO:0051246) 1.932FOXO1, PAX7
positive regulation of protein metabolic process (GO:0051247) 2.432FOXO1, PAX7
cellular component organization (GO:0016043) 1.242PAX3, PAX7
regulation of programmed cell death (GO:0043067) 2.492PAX7, FOXO1
animal organ development (GO:0048513) 2.532PAX3, PAX7
regulation of protein modification process (GO:0031399) 2.322PAX7, FOXO1
negative regulation of biological process (GO:0048519) 1.332FOXO1, PAX7
negative regulation of programmed cell death (GO:0043069) 3.022PAX7, FOXO1
regulation of cell proliferation (GO:0042127) 2.412PAX7, FOXO1
negative regulation of cell death (GO:0060548) 2.952FOXO1, PAX7
apoptotic process (GO:0006915) 3.142PAX3, FOXO1
tissue development (GO:0009888) 3.272PAX7, FOXO1
programmed cell death (GO:0012501) 3.12PAX3, FOXO1
regulation of cell differentiation (GO:0045595) 2.422FOXO1, PAX7
negative regulation of apoptotic process (GO:0043066) 3.042PAX7, FOXO1
regulation of cellular protein metabolic process (GO:0032268) 1.992FOXO1, PAX7
system development (GO:0048731) 2.922PAX3, PAX7
negative regulation of cellular process (GO:0048523) 1.412PAX7, FOXO1

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of muscle tissue development (GO:1901861) NEW5.070.013PAX3, PAX7, FOXO1
developmental growth (GO:0048589) NEW4.050.045PAX3, PAX7, FOXO1
cell differentiation in spinal cord (GO:0021515) NEW6.020.004PAX3, PAX7
limb development (GO:0060173) NEW6.20.025PAX3, FOXO1
regulation of muscle organ development (GO:0048634) NEW5.070.014PAX3, FOXO1, PAX7
skeletal system development (GO:0001501) NEW4.490.043PAX3, FOXO1, PAX7
positive regulation of neural precursor cell proliferation (GO:2000179) NEW6.090.0PAX3, FOXO1, PAX7
glial cell differentiation (GO:0010001) NEW5.480.001PAX3, PAX7, FOXO1
regulation of cellular response to growth factor stimulus (GO:0090287) NEW4.290.028PAX3, PAX7, FOXO1
cellular response to transforming growth factor beta stimulus (GO:0071560) NEW5.740.02PAX3, FOXO1, PAX7
regeneration (GO:0031099) NEW4.70.008PAX3, FOXO1, PAX7
positive regulation of neurogenesis (GO:0050769) NEW3.770.038PAX3, PAX7, FOXO1
regulation of neural precursor cell proliferation (GO:2000177) NEW5.450.003PAX3, PAX7, FOXO1
regulation of neuroblast proliferation (GO:1902692) NEW6.360.0PAX3, PAX7, FOXO1
positive regulation of stem cell proliferation (GO:2000648) NEW6.070.002PAX3, FOXO1, PAX7
hematopoietic or lymphoid organ development (GO:0048534) NEW4.490.046PAX3, FOXO1, PAX7
regulation of stem cell proliferation (GO:0072091) NEW5.60.005PAX3, FOXO1, PAX7
central nervous system neuron differentiation (GO:0021953) NEW5.170.023PAX3, PAX7
neuron development (GO:0048666) NEW4.80.025PAX3, FOXO1, PAX7
regulation of striated muscle tissue development (GO:0016202) NEW5.090.013PAX3, PAX7, FOXO1
positive regulation of DNA metabolic process (GO:0051054) NEW4.490.011PAX3, FOXO1, PAX7
circadian rhythm (GO:0007623) NEW4.790.012PAX3, FOXO1, PAX7
neuron fate commitment (GO:0048663) NEW6.120.003PAX3, PAX7
spinal cord association neuron differentiation (GO:0021527) NEW7.160.016PAX3, PAX7
regulation of protein binding (GO:0043393) NEW4.60.017PAX3, FOXO1, PAX7
tube development (GO:0035295) NEW4.410.045PAX3, PAX7, FOXO1
regulation of fibroblast growth factor receptor signaling pathway (GO:0040036) NEW6.510.048PAX3, PAX7
transforming growth factor beta receptor signaling pathway (GO:0007179) NEW5.190.007PAX3, PAX7, FOXO1
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) NEW4.60.033PAX3, FOXO1, PAX7
dorsal/ventral pattern formation (GO:0009953) NEW5.60.003PAX3, PAX7, FOXO1
positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731) NEW4.620.021PAX3, FOXO1, PAX7
regulation of peptidyl-tyrosine phosphorylation (GO:0050730) NEW4.350.046PAX3, FOXO1, PAX7
response to transforming growth factor beta (GO:0071559) NEW5.620.02PAX3, FOXO1, PAX7
positive regulation of neuroblast proliferation (GO:0002052) NEW6.680.045FOXO1, PAX7
negative regulation of myeloid cell differentiation (GO:0045638) NEW5.420.003PAX3, FOXO1, PAX7
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) -2.810.035PAX3, PAX7, FOXO1
regulation of myeloid cell differentiation (GO:0045637) NEW4.560.034PAX3, FOXO1, PAX7
appendage development (GO:0048736) NEW6.20.025PAX3, FOXO1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63PAX3, FOXO1, PAX7
nucleus (GO:0005634) 1.073PAX3, PAX7, FOXO1
cell part (GO:0044464) 0.113PAX3, FOXO1, PAX7
intracellular organelle (GO:0043229) 0.513PAX3, PAX7, FOXO1
intracellular part (GO:0044424) 0.283PAX3, PAX7, FOXO1
membrane-bounded organelle (GO:0043227) 0.473PAX3, FOXO1, PAX7
organelle (GO:0043226) 0.43PAX3, FOXO1, PAX7
intracellular organelle part (GO:0044446) 0.812PAX3, FOXO1
nucleoplasm (GO:0005654) 1.892PAX3, FOXO1
nuclear part (GO:0044428) 1.552PAX3, FOXO1
organelle part (GO:0044422) 0.792PAX3, FOXO1

NET-GE enrichment

Term New enriched termICP valueGenes
vesicle membrane (GO:0012506) NEW3.630.041PAX3, FOXO1, PAX7
transcription factor complex (GO:0005667) NEW4.10.009PAX3, FOXO1, PAX7
extracellular matrix (GO:0031012) NEW3.810.011PAX3, FOXO1, PAX7
cytoplasmic vesicle membrane (GO:0030659) NEW3.670.038PAX3, PAX7, FOXO1
endosomal part (GO:0044440) NEW3.730.025PAX3, PAX7, FOXO1
endosome membrane (GO:0010008) NEW3.830.021PAX3, PAX7, FOXO1