Disease table of FETAL AKINESIA DEFORMATION SEQUENCE OMIM ID: 208150

Gene-disease associations table

GeneAssociated with FETAL AKINESIA DEFORMATION SEQUENCE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MUSKClinVar, OMIM, HUMSAVARHGNC link9q31.32PS601462, 208150
DOK7ClinVar, OMIMHGNC link4p16.32PS601462, 208150
RAPSNClinVar, OMIM, HUMSAVARHGNC link11p11.22PS601462, 208150

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MUSKRAPSNNo1HSP90AA1

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
MUSKDOK7Yesbinding0
MUSKRAPSNYesbinding11PTK2B, PAK3, CHRNB1, PAK2, CHRNG, PTK2, PAK4, SRC, PAK6, PAK1, PAK7
DOK7RAPSNNo-1MUSK

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
DOK7MUSKyes, complexThey form a heterotetramer composed of 2 DOK7 and 2 MUSK molecules. [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) 0.183DOK7, RAPSN, MUSK
protein binding (GO:0005515) 0.463DOK7, RAPSN, MUSK
cation binding (GO:0043169) 1.42RAPSN, MUSK
receptor binding (GO:0005102) 2.432DOK7, RAPSN
metal ion binding (GO:0046872) 1.412RAPSN, MUSK
ion binding (GO:0043167) 1.362RAPSN, MUSK

NET-GE enrichment

Term New enriched termICP valueGenes
insulin receptor binding (GO:0005158) NEW6.270.004DOK7, MUSK
phospholipid binding (GO:0005543) NEW3.910.015DOK7, RAPSN, MUSK
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of biological process (GO:0048518) 1.23DOK7, RAPSN, MUSK
positive regulation of cellular process (GO:0048522) 1.33DOK7, RAPSN, MUSK
biological regulation (GO:0065007) 0.393DOK7, RAPSN, MUSK
regulation of biological process (GO:0050789) 0.453DOK7, RAPSN, MUSK
regulation of cellular process (GO:0050794) 0.53DOK7, RAPSN, MUSK
protein localization (GO:0008104) 2.362RAPSN, MUSK
regulation of phosphate metabolic process (GO:0019220) 2.352DOK7, MUSK
regulation of primary metabolic process (GO:0080090) 1.082DOK7, MUSK
regulation of metabolic process (GO:0019222) 1.022DOK7, MUSK
positive regulation of cellular metabolic process (GO:0031325) 1.812DOK7, MUSK
regulation of synapse organization (GO:0050807) 5.032RAPSN, MUSK
regulation of cellular component organization (GO:0051128) 2.012RAPSN, MUSK
membrane organization (GO:0061024) 3.042RAPSN, MUSK
single-organism process (GO:0044699) 0.482RAPSN, MUSK
positive regulation of metabolic process (GO:0009893) 1.742DOK7, MUSK
positive regulation of macromolecule metabolic process (GO:0010604) 1.812DOK7, MUSK
cellular macromolecule localization (GO:0070727) 3.12RAPSN, MUSK
positive regulation of phosphorus metabolic process (GO:0010562) 2.782DOK7, MUSK
regulation of protein metabolic process (GO:0051246) 1.932DOK7, MUSK
positive regulation of protein metabolic process (GO:0051247) 2.432DOK7, MUSK
cellular component organization (GO:0016043) 1.242RAPSN, MUSK
positive regulation of cellular protein metabolic process (GO:0032270) 2.492DOK7, MUSK
cellular component organization or biogenesis (GO:0071840) 1.222RAPSN, MUSK
regulation of protein modification process (GO:0031399) 2.322DOK7, MUSK
macromolecule localization (GO:0033036) 2.342RAPSN, MUSK
cellular protein localization (GO:0034613) 3.112RAPSN, MUSK
positive regulation of phosphate metabolic process (GO:0045937) 2.782DOK7, MUSK
regulation of macromolecule metabolic process (GO:0060255) 1.082DOK7, MUSK
regulation of cellular metabolic process (GO:0031323) 1.072DOK7, MUSK
cellular process (GO:0009987) 0.262RAPSN, MUSK
regulation of phosphorus metabolic process (GO:0051174) 2.352DOK7, MUSK
single-organism membrane organization (GO:0044802) 3.192RAPSN, MUSK
protein localization to membrane (GO:0072657) 3.952RAPSN, MUSK
localization within membrane (GO:0051668) 5.622RAPSN, MUSK
localization (GO:0051179) 1.42RAPSN, MUSK
single-organism localization (GO:1902578) 2.092RAPSN, MUSK
cellular localization (GO:0051641) 2.322RAPSN, MUSK
regulation of phosphorylation (GO:0042325) 2.52DOK7, MUSK
positive regulation of phosphorylation (GO:0042327) 2.92DOK7, MUSK
regulation of cellular protein metabolic process (GO:0032268) 1.992DOK7, MUSK
positive regulation of protein modification process (GO:0031401) 2.72DOK7, MUSK
skeletal muscle acetylcholine-gated channel clustering (GO:0071340) 7.532RAPSN, MUSK
regulation of protein phosphorylation (GO:0001932) 2.572DOK7, MUSK
single-organism cellular process (GO:0044763) 0.652RAPSN, MUSK
receptor clustering (GO:0043113) 6.022RAPSN, MUSK
single-organism cellular localization (GO:1902580) 3.162RAPSN, MUSK
positive regulation of protein phosphorylation (GO:0001934) 2.952DOK7, MUSK

NET-GE enrichment

Term New enriched termICP valueGenes
synapse organization (GO:0050808) NEW4.870.016DOK7, MUSK
neuromuscular junction development (GO:0007528) NEW6.260.045DOK7, MUSK
positive regulation of neuron death (GO:1901216) NEW5.520.003RAPSN, MUSK
regulation of neuron apoptotic process (GO:0043523) NEW4.470.044RAPSN, MUSK
protein localization to membrane (GO:0072657) -3.950.01DOK7, MUSK
cranial nerve development (GO:0021545) NEW6.680.031RAPSN, MUSK
positive regulation of protein tyrosine kinase activity (GO:0061098) NEW6.070.046DOK7, MUSK
synaptic transmission, cholinergic (GO:0007271) NEW6.20.004RAPSN, MUSK
receptor clustering (GO:0043113) -6.020.002DOK7, MUSK
single-organism cellular localization (GO:1902580) -3.160.015DOK7, MUSK
single-organism localization (GO:1902578) -2.090.015DOK7, MUSK
positive regulation of neuron apoptotic process (GO:0043525) NEW5.880.002RAPSN, MUSK
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.683DOK7, RAPSN, MUSK
cell part (GO:0044464) 0.113DOK7, RAPSN, MUSK
synapse (GO:0045202) 3.583DOK7, RAPSN, MUSK
cell junction (GO:0030054) 2.753DOK7, RAPSN, MUSK
plasma membrane (GO:0005886) 1.393DOK7, RAPSN, MUSK
synaptic membrane (GO:0097060) 4.222RAPSN, MUSK
plasma membrane region (GO:0098590) 2.972RAPSN, MUSK
neuromuscular junction (GO:0031594) 5.812RAPSN, MUSK
postsynaptic membrane (GO:0045211) 4.472RAPSN, MUSK
synapse part (GO:0044456) 3.422RAPSN, MUSK
membrane part (GO:0044425) 0.952RAPSN, MUSK
plasma membrane part (GO:0044459) 1.952RAPSN, MUSK

NET-GE enrichment

Term New enriched termICP valueGenes
synaptic membrane (GO:0097060) -4.220.012RAPSN, MUSK
neuromuscular junction (GO:0031594) -5.810.0DOK7, RAPSN, MUSK
postsynaptic membrane (GO:0045211) -4.470.008RAPSN, MUSK
synapse part (GO:0044456) -3.420.038RAPSN, MUSK
synapse (GO:0045202) -3.580.0DOK7, RAPSN, MUSK
cell junction (GO:0030054) -2.750.005DOK7, RAPSN, MUSK