Disease table of MYOPATHY, TUBULAR AGGREGATE OMIM ID: PS160565

Gene-disease associations table

GeneAssociated with MYOPATHY, TUBULAR AGGREGATE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
STIM1ClinVar, OMIM, HUMSAVARHGNC link11p15.43PS160565, 185070, 612783
ORAI1ClinVar, OMIM, HUMSAVARHGNC link12q24.312PS160565, 612782

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
STIM1YES3WT1, AR, EGR10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
STIM1ORAI1Yes2STIM1, ORAI1

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

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
Calcium signaling pathwayhsa040205.222STIM1, ORAI1
Platelet activationhsa046115.662STIM1, ORAI1

NET-GE enrichment

Term New enriched termICP valueGenes
Calcium signaling pathway (hsa04020) -5.220.008STIM1, ORAI1
Platelet activation (hsa04611) -5.660.004STIM1, ORAI1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersR-HSA-9836955.62STIM1, ORAI1
Elevation of cytosolic Ca2+ levelsR-HSA-1398539.812STIM1, ORAI1
Immune SystemR-HSA-1682562.372STIM1, ORAI1
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.622STIM1, ORAI1
Adaptive Immune SystemR-HSA-12802183.192STIM1, ORAI1
Platelet calcium homeostasisR-HSA-4183608.732STIM1, ORAI1
Platelet homeostasisR-HSA-4183466.682STIM1, ORAI1
HemostasisR-HSA-1095823.982STIM1, ORAI1

NET-GE enrichment

Term New enriched termICP valueGenes
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers (R-HSA-983695) -5.60.004STIM1, ORAI1
Elevation of cytosolic Ca2+ levels (R-HSA-139853) -9.810.0STIM1, ORAI1
Signaling by the B Cell Receptor (BCR) (R-HSA-983705) -4.620.015STIM1, ORAI1
Platelet calcium homeostasis (R-HSA-418360) -8.730.0STIM1, ORAI1
Platelet homeostasis (R-HSA-418346) -6.680.001STIM1, ORAI1
Hemostasis (R-HSA-109582) -3.980.036STIM1, ORAI1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182STIM1, ORAI1
identical protein binding (GO:0042802) 2.632STIM1, ORAI1
protein binding (GO:0005515) 0.462STIM1, ORAI1

NET-GE enrichment

Term New enriched termICP valueGenes
calcium ion transmembrane transporter activity (GO:0015085) NEW4.890.002STIM1, ORAI1
store-operated calcium channel activity (GO:0015279) NEW7.340.0STIM1, ORAI1
cation transmembrane transporter activity (GO:0008324) NEW3.320.047STIM1, ORAI1
cation channel activity (GO:0005261) NEW4.040.042STIM1, ORAI1
calcium channel activity (GO:0005262) NEW5.030.004STIM1, ORAI1
ion channel activity (GO:0005216) NEW3.710.02STIM1, ORAI1
ligand-gated ion channel activity (GO:0015276) NEW4.80.012STIM1, ORAI1
divalent inorganic cation transmembrane transporter activity (GO:0072509) NEW4.620.003STIM1, ORAI1
channel activity (GO:0015267) NEW3.60.022STIM1, ORAI1
gated channel activity (GO:0022836) NEW3.960.012STIM1, ORAI1
ligand-gated channel activity (GO:0022834) NEW4.80.012STIM1, ORAI1
inorganic cation transmembrane transporter activity (GO:0022890) NEW3.490.031STIM1, ORAI1
passive transmembrane transporter activity (GO:0022803) NEW3.60.022STIM1, ORAI1
metal ion transmembrane transporter activity (GO:0046873) NEW3.710.019STIM1, ORAI1
substrate-specific channel activity (GO:0022838) NEW3.670.02STIM1, ORAI1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of calcium ion transport (GO:0051924) 4.382STIM1, ORAI1
regulation of transport (GO:0051049) 2.242STIM1, ORAI1
regulation of biological process (GO:0050789) 0.452STIM1, ORAI1
regulation of ion transport (GO:0043269) 3.42STIM1, ORAI1
establishment of localization (GO:0051234) 1.482STIM1, ORAI1
biological regulation (GO:0065007) 0.392STIM1, ORAI1
positive regulation of biological process (GO:0048518) 1.22STIM1, ORAI1
developmental process (GO:0032502) 1.362STIM1, ORAI1
positive regulation of transport (GO:0051050) 2.92STIM1, ORAI1
cation transport (GO:0006812) 3.112STIM1, ORAI1
ion transport (GO:0006811) 2.662STIM1, ORAI1
transport (GO:0006810) 1.512STIM1, ORAI1
calcium ion transport (GO:0006816) 4.332STIM1, ORAI1
tissue development (GO:0009888) 3.272STIM1, ORAI1
positive regulation of ion transport (GO:0043270) 4.362STIM1, ORAI1
metal ion transport (GO:0030001) 3.362STIM1, ORAI1
divalent metal ion transport (GO:0070838) 4.152STIM1, ORAI1
regulation of localization (GO:0032879) 1.942STIM1, ORAI1
localization (GO:0051179) 1.42STIM1, ORAI1
regulation of metal ion transport (GO:0010959) 3.942STIM1, ORAI1
divalent inorganic cation transport (GO:0072511) 4.132STIM1, ORAI1
store-operated calcium entry (GO:0002115) 7.782STIM1, ORAI1
response to stimulus (GO:0050896) 1.222STIM1, ORAI1
anatomical structure development (GO:0048856) 1.582STIM1, ORAI1
positive regulation of calcium ion transport (GO:0051928) 5.062STIM1, ORAI1

NET-GE enrichment

Term New enriched termICP valueGenes
blood coagulation (GO:0007596) NEW4.520.043STIM1, ORAI1
divalent inorganic cation transport (GO:0072511) -4.130.013STIM1, ORAI1
positive regulation of calcium ion transport (GO:0051928) -5.060.016STIM1, ORAI1
regulation of calcium ion transport (GO:0051924) -4.380.005STIM1, ORAI1
calcium ion transmembrane transport (GO:0070588) NEW4.670.02STIM1, ORAI1
calcium ion transport (GO:0006816) -4.330.01STIM1, ORAI1
store-operated calcium entry (GO:0002115) -7.780.0STIM1, ORAI1
regulation of metal ion transport (GO:0010959) -3.940.012STIM1, ORAI1
coagulation (GO:0050817) NEW4.510.043STIM1, ORAI1
inorganic cation transmembrane transport (GO:0098662) NEW3.550.044STIM1, ORAI1
regulation of ion transport (GO:0043269) -3.40.05STIM1, ORAI1
divalent metal ion transport (GO:0070838) -4.150.012STIM1, ORAI1
hemostasis (GO:0007599) NEW4.50.044STIM1, ORAI1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512STIM1, ORAI1
macromolecular complex (GO:0032991) 1.352STIM1, ORAI1
intracellular membrane-bounded organelle (GO:0043231) 0.62STIM1, ORAI1
plasma membrane part (GO:0044459) 1.952STIM1, ORAI1
intrinsic component of plasma membrane (GO:0031226) 2.532STIM1, ORAI1
integral component of membrane (GO:0016021) 1.142STIM1, ORAI1
membrane (GO:0016020) 0.682STIM1, ORAI1
cell part (GO:0044464) 0.112STIM1, ORAI1
cytoplasmic part (GO:0044444) 0.822STIM1, ORAI1
intracellular organelle (GO:0043229) 0.512STIM1, ORAI1
integral component of plasma membrane (GO:0005887) 2.572STIM1, ORAI1
plasma membrane (GO:0005886) 1.392STIM1, ORAI1
intracellular part (GO:0044424) 0.282STIM1, ORAI1
membrane part (GO:0044425) 0.952STIM1, ORAI1
membrane-bounded organelle (GO:0043227) 0.472STIM1, ORAI1
organelle (GO:0043226) 0.42STIM1, ORAI1
intrinsic component of membrane (GO:0031224) 1.132STIM1, ORAI1