Disease table of FAMILIAL EPISODIC PAIN SYNDROME OMIM ID: PS615040

Gene-disease associations table

GeneAssociated with FAMILIAL EPISODIC PAIN SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SCN11AClinVar, OMIM, HUMSAVARHGNC link3p22.22PS162400, PS615040
SCN10AClinVar, OMIM, HUMSAVARHGNC link3p22.21PS615040
TRPA1ClinVar, OMIM, HUMSAVARHGNC link8q21.111PS615040

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Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 1622SCN11A, SCN10A
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
3p22.22SCN11A, SCN10A
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
3p222SCN11A, SCN10A
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
3p22SCN11A, SCN10A
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
3p2SCN11A, SCN10A
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
32SCN11A, SCN10A
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
SCN10ASCN11Ayes, complexThey are subunits of the same sodium channel.
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Axon guidanceR-HSA-4224753.932SCN10A, SCN11A
Interaction between L1 and AnkyrinsR-HSA-4450958.032SCN10A, SCN11A
L1CAM interactionsR-HSA-3737606.192SCN10A, SCN11A
Developmental BiologyR-HSA-12667383.482SCN10A, SCN11A

NET-GE enrichment

Term New enriched termICP valueGenes
Interaction between L1 and Ankyrins (R-HSA-445095) -8.030.0SCN10A, SCN11A
L1CAM interactions (R-HSA-373760) -6.190.005SCN10A, SCN11A
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
substrate-specific transmembrane transporter activity (GO:0022891) 2.93TRPA1, SCN10A, SCN11A
inorganic cation transmembrane transporter activity (GO:0022890) 3.493TRPA1, SCN10A, SCN11A
substrate-specific transporter activity (GO:0022892) 2.723TRPA1, SCN10A, SCN11A
cation channel activity (GO:0005261) 4.043TRPA1, SCN10A, SCN11A
transporter activity (GO:0005215) 2.573TRPA1, SCN10A, SCN11A
ion channel activity (GO:0005216) 3.713TRPA1, SCN10A, SCN11A
cation transmembrane transporter activity (GO:0008324) 3.323TRPA1, SCN10A, SCN11A
ion transmembrane transporter activity (GO:0015075) 3.043TRPA1, SCN10A, SCN11A
transmembrane transporter activity (GO:0022857) 2.823TRPA1, SCN10A, SCN11A
channel activity (GO:0015267) 3.63TRPA1, SCN10A, SCN11A
gated channel activity (GO:0022836) 3.963TRPA1, SCN10A, SCN11A
passive transmembrane transporter activity (GO:0022803) 3.63TRPA1, SCN10A, SCN11A
metal ion transmembrane transporter activity (GO:0046873) 3.713TRPA1, SCN10A, SCN11A
substrate-specific channel activity (GO:0022838) 3.673TRPA1, SCN10A, SCN11A
sodium channel activity (GO:0005272) 6.132SCN10A, SCN11A
sodium ion transmembrane transporter activity (GO:0015081) 4.832SCN10A, SCN11A
voltage-gated channel activity (GO:0022832) 4.492SCN10A, SCN11A
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872SCN10A, SCN11A
voltage-gated sodium channel activity (GO:0005248) 6.742SCN10A, SCN11A
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1905030) 6.742SCN10A, SCN11A
voltage-gated ion channel activity (GO:0005244) 4.492SCN10A, SCN11A

NET-GE enrichment

Term New enriched termICP valueGenes
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.003TRPA1, SCN10A, SCN11A
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.007TRPA1, SCN10A, SCN11A
substrate-specific channel activity (GO:0022838) -3.670.004TRPA1, SCN10A, SCN11A
sodium channel activity (GO:0005272) -6.130.0SCN10A, SCN11A
sodium ion transmembrane transporter activity (GO:0015081) -4.830.02SCN10A, SCN11A
transporter activity (GO:0005215) -2.570.01TRPA1, SCN10A, SCN11A
ion channel activity (GO:0005216) -3.710.0TRPA1, SCN10A, SCN11A
cation transmembrane transporter activity (GO:0008324) -3.320.014TRPA1, SCN10A, SCN11A
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.03SCN10A, SCN11A
cation channel activity (GO:0005261) -4.040.0TRPA1, SCN10A, SCN11A
ion transmembrane transporter activity (GO:0015075) -3.040.003TRPA1, SCN10A, SCN11A
voltage-gated channel activity (GO:0022832) -4.490.008SCN10A, SCN11A
transmembrane transporter activity (GO:0022857) -2.820.005TRPA1, SCN10A, SCN11A
channel activity (GO:0015267) -3.60.005TRPA1, SCN10A, SCN11A
voltage-gated cation channel activity (GO:0022843) NEW4.830.005SCN10A, SCN11A
substrate-specific transporter activity (GO:0022892) -2.720.005TRPA1, SCN10A, SCN11A
voltage-gated sodium channel activity (GO:0005248) -6.740.0SCN10A, SCN11A
passive transmembrane transporter activity (GO:0022803) -3.60.005TRPA1, SCN10A, SCN11A
metal ion transmembrane transporter activity (GO:0046873) -3.710.004TRPA1, SCN10A, SCN11A
voltage-gated ion channel activity (GO:0005244) -4.490.008SCN10A, SCN11A
gated channel activity (GO:0022836) -3.960.025SCN10A, SCN11A
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
establishment of localization (GO:0051234) 1.483TRPA1, SCN10A, SCN11A
cation transmembrane transport (GO:0098655) 3.433TRPA1, SCN10A, SCN11A
cation transport (GO:0006812) 3.113TRPA1, SCN10A, SCN11A
ion transport (GO:0006811) 2.663TRPA1, SCN10A, SCN11A
transport (GO:0006810) 1.513TRPA1, SCN10A, SCN11A
transmembrane transport (GO:0055085) 2.723TRPA1, SCN10A, SCN11A
ion transmembrane transport (GO:0034220) 3.083TRPA1, SCN10A, SCN11A
biological regulation (GO:0065007) 0.393TRPA1, SCN10A, SCN11A
inorganic cation transmembrane transport (GO:0098662) 3.553TRPA1, SCN10A, SCN11A
inorganic ion transmembrane transport (GO:0098660) 3.383TRPA1, SCN10A, SCN11A
localization (GO:0051179) 1.43TRPA1, SCN10A, SCN11A
metal ion transport (GO:0030001) 3.363TRPA1, SCN10A, SCN11A
regulation of localization (GO:0032879) 1.943TRPA1, SCN10A, SCN11A
regulation of biological quality (GO:0065008) 1.683TRPA1, SCN10A, SCN11A
regulation of biological process (GO:0050789) 0.453TRPA1, SCN10A, SCN11A
regulation of membrane potential (GO:0042391) 3.892SCN10A, SCN11A
regulation of transport (GO:0051049) 2.242SCN10A, SCN11A
neuronal action potential (GO:0019228) 6.42SCN10A, SCN11A
regulation of homeostatic process (GO:0032844) 3.652TRPA1, SCN10A
membrane depolarization (GO:0051899) 5.622SCN10A, SCN11A
response to chemical (GO:0042221) 1.982TRPA1, SCN11A
action potential (GO:0001508) 5.422SCN10A, SCN11A
regulation of ion transmembrane transport (GO:0034765) 3.772SCN10A, SCN11A
single-organism process (GO:0044699) 0.482TRPA1, SCN10A
membrane depolarization during action potential (GO:0086010) 6.072SCN10A, SCN11A
regulation of system process (GO:0044057) 3.532SCN10A, SCN11A
sodium ion transmembrane transport (GO:0035725) 5.232SCN10A, SCN11A
regulation of transmembrane transport (GO:0034762) 3.742SCN10A, SCN11A
sensory perception of pain (GO:0019233) 5.622TRPA1, SCN10A
monovalent inorganic cation transport (GO:0015672) 3.742SCN10A, SCN11A
multicellular organismal process (GO:0032501) 1.452TRPA1, SCN10A
neurological system process (GO:0050877) 2.642TRPA1, SCN10A
sensory perception (GO:0007600) 2.932TRPA1, SCN10A
regulation of cellular process (GO:0050794) 0.52TRPA1, SCN10A
regulation of multicellular organismal process (GO:0051239) 1.872SCN10A, SCN11A
regulation of postsynaptic membrane potential (GO:0060078) 5.722SCN10A, SCN11A
sodium ion transport (GO:0006814) 4.752SCN10A, SCN11A
system process (GO:0003008) 2.32TRPA1, SCN10A
response to stimulus (GO:0050896) 1.222TRPA1, SCN11A
response to drug (GO:0042493) 3.712TRPA1, SCN11A
regulation of ion homeostasis (GO:2000021) 4.442TRPA1, SCN10A
regulation of ion transport (GO:0043269) 3.42SCN10A, SCN11A

NET-GE enrichment

Term New enriched termICP valueGenes
membrane depolarization during action potential (GO:0086010) -6.070.003SCN10A, SCN11A
cation transport (GO:0006812) -3.110.009TRPA1, SCN10A, SCN11A
ion transport (GO:0006811) -2.660.031TRPA1, SCN10A, SCN11A
neuronal action potential (GO:0019228) -6.40.005SCN10A, SCN11A
sodium ion transmembrane transport (GO:0035725) -5.230.037SCN10A, SCN11A
sodium ion transport (GO:0006814) -4.750.017SCN10A, SCN11A
ion transmembrane transport (GO:0034220) -3.080.007TRPA1, SCN10A, SCN11A
membrane depolarization (GO:0051899) -5.620.009SCN10A, SCN11A
metal ion transport (GO:0030001) -3.360.003TRPA1, SCN10A, SCN11A
inorganic cation transmembrane transport (GO:0098662) -3.550.021TRPA1, SCN10A, SCN11A
inorganic ion transmembrane transport (GO:0098660) -3.380.003TRPA1, SCN10A, SCN11A
action potential (GO:0001508) -5.420.028SCN10A, SCN11A
cation transmembrane transport (GO:0098655) -3.430.003TRPA1, SCN10A, SCN11A
transmembrane transport (GO:0055085) -2.720.026TRPA1, SCN10A, SCN11A
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.143TRPA1, SCN10A, SCN11A
membrane (GO:0016020) 0.683TRPA1, SCN10A, SCN11A
cell part (GO:0044464) 0.113TRPA1, SCN10A, SCN11A
membrane part (GO:0044425) 0.953TRPA1, SCN10A, SCN11A
plasma membrane part (GO:0044459) 1.953TRPA1, SCN10A, SCN11A
intrinsic component of membrane (GO:0031224) 1.133TRPA1, SCN10A, SCN11A
protein complex (GO:0043234) 1.512SCN10A, SCN11A
plasma membrane protein complex (GO:0098797) 3.552SCN10A, SCN11A
transmembrane transporter complex (GO:1902495) 4.062SCN10A, SCN11A
extracellular exosome (GO:0070062) 1.892SCN10A, SCN11A
membrane protein complex (GO:0098796) 2.842SCN10A, SCN11A
extracellular region part (GO:0044421) 1.572SCN10A, SCN11A
extracellular organelle (GO:0043230) 1.892SCN10A, SCN11A
transporter complex (GO:1990351) 4.042SCN10A, SCN11A
membrane-bounded vesicle (GO:0031988) 1.712SCN10A, SCN11A
sodium channel complex (GO:0034706) 6.972SCN10A, SCN11A
neuron part (GO:0097458) 2.642TRPA1, SCN11A
ion channel complex (GO:0034702) 4.182SCN10A, SCN11A
cation channel complex (GO:0034703) 4.692SCN10A, SCN11A
plasma membrane (GO:0005886) 1.392TRPA1, SCN11A
macromolecular complex (GO:0032991) 1.352SCN10A, SCN11A
voltage-gated sodium channel complex (GO:0001518) 7.162SCN10A, SCN11A
extracellular vesicle (GO:1903561) 1.892SCN10A, SCN11A
membrane-bounded organelle (GO:0043227) 0.472SCN10A, SCN11A
organelle (GO:0043226) 0.42SCN10A, SCN11A
vesicle (GO:0031982) 1.642SCN10A, SCN11A

NET-GE enrichment

Term New enriched termICP valueGenes
C-fiber (GO:0044299) NEW9.110.0SCN10A, SCN11A
transmembrane transporter complex (GO:1902495) -4.060.023SCN10A, SCN11A
transporter complex (GO:1990351) -4.040.024SCN10A, SCN11A
axon (GO:0030424) NEW4.150.009SCN10A, SCN11A
sodium channel complex (GO:0034706) -6.970.0SCN10A, SCN11A
ion channel complex (GO:0034702) -4.180.019SCN10A, SCN11A
cation channel complex (GO:0034703) -4.690.025SCN10A, SCN11A
voltage-gated sodium channel complex (GO:0001518) -7.160.0SCN10A, SCN11A