Disease table of LETHAL CONGENITAL CONTRACTURE SYNDROME OMIM ID: PS253310

Gene-disease associations table

GeneAssociated with LETHAL CONGENITAL CONTRACTURE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ERBB3ClinVar, OMIMHGNC link12q13.21PS253310
ADCY6ClinVar, OMIM, HUMSAVARHGNC link12q13.121PS253310
PIP5K1CClinVar, OMIM, HUMSAVARHGNC link19p13.31PS253310
CNTNAP1ClinVar, OMIMHGNC link17q21.21PS253310
ADGRG6ClinVar, OMIM, HUMSAVARHGNC link6q24.21PS253310
ZBTB42ClinVar, OMIM, HUMSAVARHGNC link14q32.331PS253310
MYBPC1ClinVar, OMIMHGNC link12q23.22PS253310, 614335
DNM2ClinVar, OMIM, HUMSAVARHGNC link19p13.24PS118220, PS253310, PS160150, 310400
GLE1ClinVar, OMIM, HUMSAVARHGNC link9q34.112611890, PS253310

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
12q132ERBB3, ADCY6
19p132PIP5K1C, DNM2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
12q12ERBB3, ADCY6
19p12PIP5K1C, DNM2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
19p2PIP5K1C, DNM2
12q3MYBPC1, ERBB3, ADCY6
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
123MYBPC1, ERBB3, ADCY6
192PIP5K1C, DNM2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ERBB3YES4TWIST2, AR, YBX1, TWIST10
PIP5K1CYES1EZH20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ERBB3DNM2No5SRC, FER, GRB2, EGFR, SHC1
CNTNAP1DNM2No1FBXO6

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
ERBB3ADCY6No-1PRKACA
ERBB3PIP5K1CNo-3UBC, CDH1, CTNNB1
ERBB3DNM2No-8GRAP, CBL, GRAPL, CDH1, CTNNB1, UBC, GRB2, GRAP2
ERBB3GLE1No-1UBC
PIP5K1CCNTNAP1No-1RHOA
PIP5K1CDNM2No-8RAC1, AP1M1, CDH1, CTNND1, CTNNB1, UBC, WASL, CTNNA1
PIP5K1CGLE1No-1UBC
CNTNAP1DNM2No-1SRC
MYBPC1DNM2No-1MYH14
DNM2GLE1No-1UBC

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
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Endocytosishsa041444.923PIP5K1C, ERBB3, DNM2
Endocrine and other factor-regulated calcium reabsorptionhsa049617.122DNM2, ADCY6
Fc gamma R-mediated phagocytosishsa046666.212PIP5K1C, DNM2

NET-GE enrichment

Term New enriched termICP valueGenes
Endocrine and other factor-regulated calcium reabsorption (hsa04961) -7.120.039DNM2, ADCY6
Endocytosis (hsa04144) -4.920.026PIP5K1C, ERBB3, DNM2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Axon guidanceR-HSA-4224753.934CNTNAP1, ERBB3, PIP5K1C, DNM2
Developmental BiologyR-HSA-12667383.484CNTNAP1, ERBB3, PIP5K1C, DNM2
Signalling by NGFR-HSA-1665204.233DNM2, ERBB3, ADCY6
Immune SystemR-HSA-1682562.373DNM2, ERBB3, ADCY6
Innate Immune SystemR-HSA-1682493.173DNM2, ERBB3, ADCY6
MetabolismR-HSA-14307282.343PIP5K1C, DNM2, ADCY6
Signal TransductionR-HSA-1625821.783DNM2, ERBB3, ADCY6
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.513DNM2, ERBB3, ADCY6
L1CAM interactionsR-HSA-3737606.192CNTNAP1, DNM2
Signaling by FGFRR-HSA-1902364.672ERBB3, ADCY6
Signaling by GPCRR-HSA-3727902.682ERBB3, ADCY6
Signaling by FGFR2R-HSA-56547384.682ERBB3, ADCY6
Signaling by FGFR1R-HSA-56547364.692ERBB3, ADCY6
DAP12 signalingR-HSA-24244914.642ERBB3, ADCY6
Adaptive Immune SystemR-HSA-12802183.192DNM2, ERBB3
Signaling by PDGFR-HSA-1867974.532ERBB3, ADCY6
Signaling by FGFR4R-HSA-56547434.692ERBB3, ADCY6
DAP12 interactionsR-HSA-21721274.562ERBB3, ADCY6
Downstream signal transductionR-HSA-1867634.652ERBB3, ADCY6
Downstream signaling of activated FGFR4R-HSA-56547164.712ERBB3, ADCY6
Signaling by ERBB2R-HSA-12279864.662ERBB3, ADCY6
Downstream signaling of activated FGFR1R-HSA-56546874.712ERBB3, ADCY6
Downstream signaling of activated FGFR3R-HSA-56547084.712ERBB3, ADCY6
Downstream signaling of activated FGFR2R-HSA-56546964.712ERBB3, ADCY6
Signaling by EGFRR-HSA-1779294.592ERBB3, ADCY6
Signaling by FGFR3R-HSA-56547414.692ERBB3, ADCY6

NET-GE enrichment

Term New enriched termICP valueGenes
Axon guidance (R-HSA-422475) -3.930.037PIP5K1C, ERBB3, CNTNAP1, DNM2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.188PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
protein binding (GO:0005515) 0.467PIP5K1C, GLE1, CNTNAP1, DNM2, ADCY6, ERBB3, MYBPC1
small molecule binding (GO:0036094) 1.895PIP5K1C, ERBB3, DNM2, ADCY6, GLE1
organic cyclic compound binding (GO:0097159) 1.055PIP5K1C, ERBB3, ZBTB42, ADCY6, DNM2
heterocyclic compound binding (GO:1901363) 1.065PIP5K1C, ERBB3, ZBTB42, ADCY6, DNM2
carbohydrate derivative binding (GO:0097367) 2.034PIP5K1C, ERBB3, DNM2, ADCY6
purine ribonucleoside triphosphate binding (GO:0035639) 2.224PIP5K1C, ERBB3, DNM2, ADCY6
nucleotide binding (GO:0000166) 1.964PIP5K1C, ERBB3, DNM2, ADCY6
catalytic activity (GO:0003824) 1.054PIP5K1C, ERBB3, DNM2, ADCY6
ribonucleotide binding (GO:0032553) 2.194PIP5K1C, ERBB3, DNM2, ADCY6
purine nucleoside binding (GO:0001883) 2.224PIP5K1C, ERBB3, DNM2, ADCY6
ribonucleoside binding (GO:0032549) 2.224PIP5K1C, ERBB3, DNM2, ADCY6
purine ribonucleotide binding (GO:0032555) 2.24PIP5K1C, ERBB3, DNM2, ADCY6
purine nucleotide binding (GO:0017076) 2.194PIP5K1C, ERBB3, DNM2, ADCY6
purine ribonucleoside binding (GO:0032550) 2.224PIP5K1C, ERBB3, DNM2, ADCY6
nucleoside phosphate binding (GO:1901265) 1.964PIP5K1C, ERBB3, DNM2, ADCY6
nucleoside binding (GO:0001882) 2.214PIP5K1C, ERBB3, DNM2, ADCY6
adenyl ribonucleotide binding (GO:0032559) 2.413PIP5K1C, ERBB3, ADCY6
ATP binding (GO:0005524) 2.433PIP5K1C, ERBB3, ADCY6
adenyl nucleotide binding (GO:0030554) 2.43PIP5K1C, ERBB3, ADCY6
cation binding (GO:0043169) 1.42ZBTB42, ADCY6
kinase binding (GO:0019900) 3.322DNM2, ADCY6
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082PIP5K1C, ERBB3
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772PIP5K1C, ERBB3
kinase activity (GO:0016301) 2.932PIP5K1C, ERBB3
SH3 domain binding (GO:0017124) 4.982CNTNAP1, DNM2
enzyme binding (GO:0019899) 2.272DNM2, ADCY6
ion binding (GO:0043167) 1.362ZBTB42, ADCY6
protein kinase binding (GO:0019901) 3.442DNM2, ADCY6
molecular transducer activity (GO:0060089) 2.322CNTNAP1, ERBB3
transferase activity (GO:0016740) 1.952PIP5K1C, ERBB3
protein domain specific binding (GO:0019904) 3.322CNTNAP1, DNM2
receptor activity (GO:0004872) 2.322CNTNAP1, ERBB3
receptor binding (GO:0005102) 2.432DNM2, ADCY6
metal ion binding (GO:0046872) 1.412ZBTB42, ADCY6
phosphatidylinositol bisphosphate kinase activity (GO:0052813) 5.562PIP5K1C, ERBB3
identical protein binding (GO:0042802) 2.632ERBB3, GLE1
cytoskeletal protein binding (GO:0008092) 3.022MYBPC1, DNM2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.398PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
regulation of biological process (GO:0050789) 0.458PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
regulation of cellular process (GO:0050794) 0.58PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
cellular process (GO:0009987) 0.267PIP5K1C, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
single-organism process (GO:0044699) 0.487PIP5K1C, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
single-organism cellular process (GO:0044763) 0.656PIP5K1C, CNTNAP1, DNM2, ADCY6, ERBB3, MYBPC1
regulation of primary metabolic process (GO:0080090) 1.085DNM2, ERBB3, ZBTB42, ADCY6, GLE1
regulation of metabolic process (GO:0019222) 1.025ZBTB42, ERBB3, GLE1, ADCY6, DNM2
regulation of macromolecule metabolic process (GO:0060255) 1.085ZBTB42, ERBB3, GLE1, ADCY6, DNM2
regulation of cellular metabolic process (GO:0031323) 1.075ZBTB42, ERBB3, GLE1, ADCY6, DNM2
cellular metabolic process (GO:0044237) 0.695PIP5K1C, ERBB3, ZBTB42, ADCY6, DNM2
organic substance metabolic process (GO:0071704) 0.635PIP5K1C, ERBB3, ZBTB42, ADCY6, DNM2
metabolic process (GO:0008152) 0.585PIP5K1C, ERBB3, ZBTB42, ADCY6, DNM2
positive regulation of biological process (GO:0048518) 1.25CNTNAP1, ERBB3, MYBPC1, ADCY6, DNM2
positive regulation of cellular process (GO:0048522) 1.35CNTNAP1, ERBB3, MYBPC1, ADCY6, DNM2
developmental process (GO:0032502) 1.364CNTNAP1, ERBB3, ZBTB42, DNM2
primary metabolic process (GO:0044238) 0.694PIP5K1C, ERBB3, ZBTB42, ADCY6
single-organism metabolic process (GO:0044710) 1.634PIP5K1C, ERBB3, DNM2, ADCY6
regulation of cell communication (GO:0010646) 1.734CNTNAP1, ERBB3, PIP5K1C, DNM2
regulation of signal transduction (GO:0009966) 1.844CNTNAP1, ERBB3, PIP5K1C, DNM2
regulation of response to stimulus (GO:0048583) 1.544CNTNAP1, ERBB3, PIP5K1C, DNM2
regulation of biosynthetic process (GO:0009889) 1.374ZBTB42, GLE1, ADCY6, DNM2
regulation of cellular biosynthetic process (GO:0031326) 1.384DNM2, ZBTB42, ADCY6, GLE1
regulation of cellular component organization (GO:0051128) 2.014DNM2, MYBPC1, ADCY6, GLE1
single-organism developmental process (GO:0044767) 1.494CNTNAP1, ERBB3, ZBTB42, DNM2
signal transduction (GO:0007165) 1.284CNTNAP1, ERBB3, DNM2, ADCY6
regulation of signaling (GO:0023051) 1.724PIP5K1C, ERBB3, CNTNAP1, DNM2
negative regulation of biological process (GO:0048519) 1.334ZBTB42, ERBB3, DNM2, ADCY6
cellular localization (GO:0051641) 2.324PIP5K1C, CNTNAP1, GLE1, DNM2
localization (GO:0051179) 1.44CNTNAP1, PIP5K1C, GLE1, DNM2
negative regulation of cellular process (GO:0048523) 1.414ZBTB42, ERBB3, DNM2, ADCY6
regulation of nitrogen compound metabolic process (GO:0051171) 1.364ZBTB42, ADCY6, GLE1, DNM2
protein localization (GO:0008104) 2.363CNTNAP1, DNM2, GLE1
positive regulation of metabolic process (GO:0009893) 1.743DNM2, ERBB3, ADCY6
regulation of protein metabolic process (GO:0051246) 1.933ERBB3, GLE1, ADCY6
regulation of transport (GO:0051049) 2.243MYBPC1, ERBB3, DNM2
positive regulation of cellular metabolic process (GO:0031325) 1.813DNM2, ERBB3, ADCY6
cellular biosynthetic process (GO:0044249) 1.373PIP5K1C, ZBTB42, ADCY6
multicellular organismal process (GO:0032501) 1.453CNTNAP1, MYBPC1, ADCY6
regulation of localization (GO:0032879) 1.943MYBPC1, ERBB3, DNM2
cellular component organization or biogenesis (GO:0071840) 1.223PIP5K1C, CNTNAP1, DNM2
organic substance biosynthetic process (GO:1901576) 1.343PIP5K1C, ZBTB42, ADCY6
regulation of intracellular signal transduction (GO:1902531) 2.313PIP5K1C, ERBB3, DNM2
positive regulation of macromolecule metabolic process (GO:0010604) 1.813DNM2, ERBB3, ADCY6
cellular macromolecule metabolic process (GO:0044260) 0.933ZBTB42, ERBB3, DNM2
cellular developmental process (GO:0048869) 1.823CNTNAP1, ERBB3, DNM2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463ZBTB42, DNM2, GLE1
cellular component organization (GO:0016043) 1.243CNTNAP1, PIP5K1C, DNM2
positive regulation of catalytic activity (GO:0043085) 2.43DNM2, ERBB3, ADCY6
positive regulation of molecular function (GO:0044093) 2.233DNM2, ERBB3, ADCY6
regulation of molecular function (GO:0065009) 1.783DNM2, ERBB3, ADCY6
macromolecule localization (GO:0033036) 2.343CNTNAP1, DNM2, GLE1
regulation of gene expression (GO:0010468) 1.373ZBTB42, DNM2, GLE1
regulation of catalytic activity (GO:0050790) 1.973DNM2, ERBB3, ADCY6
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433ZBTB42, DNM2, ADCY6
transport (GO:0006810) 1.513PIP5K1C, DNM2, GLE1
biosynthetic process (GO:0009058) 1.323PIP5K1C, ZBTB42, ADCY6
regulation of cellular protein metabolic process (GO:0032268) 1.993ERBB3, GLE1, ADCY6
establishment of localization in cell (GO:0051649) 2.473PIP5K1C, DNM2, GLE1
cell adhesion (GO:0007155) 2.823MYBPC1, PIP5K1C, CNTNAP1
establishment of localization (GO:0051234) 1.483PIP5K1C, DNM2, GLE1
system process (GO:0003008) 2.33CNTNAP1, MYBPC1, ADCY6
biological adhesion (GO:0022610) 2.813MYBPC1, CNTNAP1, PIP5K1C
response to stimulus (GO:0050896) 1.223DNM2, ERBB3, ADCY6
anatomical structure development (GO:0048856) 1.583ZBTB42, ERBB3, DNM2
macromolecule metabolic process (GO:0043170) 0.833ZBTB42, ERBB3, DNM2
phosphate-containing compound metabolic process (GO:0006796) 2.163PIP5K1C, ERBB3, ADCY6
regulation of macromolecule biosynthetic process (GO:0010556) 1.433ZBTB42, DNM2, GLE1
phosphorus metabolic process (GO:0006793) 2.153PIP5K1C, ERBB3, ADCY6
organophosphate metabolic process (GO:0019637) 3.043PIP5K1C, ERBB3, ADCY6
phagocytosis (GO:0006909) 5.542PIP5K1C, DNM2
negative regulation of response to stimulus (GO:0048585) 2.522DNM2, ERBB3
positive regulation of response to stimulus (GO:0048584) 2.182CNTNAP1, ERBB3
regulation of phosphate metabolic process (GO:0019220) 2.352ERBB3, ADCY6
establishment of organelle localization (GO:0051656) 4.152PIP5K1C, DNM2
organic cyclic compound biosynthetic process (GO:1901362) 1.662ZBTB42, ADCY6
establishment of vesicle localization (GO:0051650) 4.912PIP5K1C, DNM2
organic cyclic compound metabolic process (GO:1901360) 1.262ZBTB42, ADCY6
cellular response to stimulus (GO:0051716) 1.972DNM2, ADCY6
single-organism biosynthetic process (GO:0044711) 2.82PIP5K1C, ADCY6
negative regulation of signal transduction (GO:0009968) 2.752DNM2, ERBB3
positive regulation of signal transduction (GO:0009967) 2.52CNTNAP1, ERBB3
cellular response to organic substance (GO:0071310) 2.782DNM2, ADCY6
regulation of neuron differentiation (GO:0045664) 3.392DNM2, ADCY6
animal organ development (GO:0048513) 2.532ZBTB42, ERBB3
synaptic vesicle localization (GO:0097479) 5.312PIP5K1C, DNM2
positive regulation of transport (GO:0051050) 2.92MYBPC1, DNM2
regulation of protein kinase activity (GO:0045859) 3.152ERBB3, ADCY6
establishment of protein localization (GO:0045184) 2.532DNM2, GLE1
phosphatidylinositol metabolic process (GO:0046488) 4.462PIP5K1C, ERBB3
regulation of neuron projection development (GO:0010975) 3.692DNM2, ADCY6
regulation of RNA biosynthetic process (GO:2001141) 1.552ZBTB42, DNM2
glycerolipid metabolic process (GO:0046486) 3.912PIP5K1C, ERBB3
response to organic substance (GO:0010033) 2.22DNM2, ADCY6
establishment of synaptic vesicle localization (GO:0097480) 5.332PIP5K1C, DNM2
heterocycle metabolic process (GO:0046483) 1.312ZBTB42, ADCY6
regulation of phosphorylation (GO:0042325) 2.52ERBB3, ADCY6
positive regulation of phosphorylation (GO:0042327) 2.92ERBB3, ADCY6
vesicle-mediated transport (GO:0016192) 2.722PIP5K1C, DNM2
response to organonitrogen compound (GO:0010243) 3.22DNM2, ADCY6
immune system process (GO:0002376) 2.292PIP5K1C, DNM2
aromatic compound biosynthetic process (GO:0019438) 1.72ZBTB42, ADCY6
cellular component assembly (GO:0022607) 2.142PIP5K1C, CNTNAP1
positive regulation of biosynthetic process (GO:0009891) 2.292DNM2, ADCY6
movement of cell or subcellular component (GO:0006928) 2.612PIP5K1C, MYBPC1
nitrogen compound metabolic process (GO:0006807) 1.132ZBTB42, ADCY6
response to monoamine (GO:0071867) 6.172DNM2, ADCY6
cellular response to monoamine stimulus (GO:0071868) 6.292DNM2, ADCY6
response to catecholamine (GO:0071869) 6.232DNM2, ADCY6
intracellular signal transduction (GO:0035556) 2.392ERBB3, ADCY6
regulation of apoptotic process (GO:0042981) 2.52DNM2, ERBB3
synaptic vesicle transport (GO:0048489) 5.332PIP5K1C, DNM2
positive regulation of transferase activity (GO:0051347) 3.312ERBB3, ADCY6
actin filament-based process (GO:0030029) 3.942PIP5K1C, MYBPC1
positive regulation of hydrolase activity (GO:0051345) 2.912DNM2, ERBB3
regulation of kinase activity (GO:0043549) 3.072ERBB3, ADCY6
regulation of cell projection organization (GO:0031344) 3.382DNM2, ADCY6
phosphatidylinositol phosphorylation (GO:0046854) 5.192PIP5K1C, ERBB3
regulation of biological quality (GO:0065008) 1.682CNTNAP1, ADCY6
heterocycle biosynthetic process (GO:0018130) 1.72ZBTB42, ADCY6
positive regulation of cellular component organization (GO:0051130) 2.682MYBPC1, DNM2
lipid metabolic process (GO:0006629) 2.682PIP5K1C, ERBB3
nucleobase-containing compound metabolic process (GO:0006139) 1.352ZBTB42, ADCY6
regulation of developmental process (GO:0050793) 2.12DNM2, ADCY6
response to stress (GO:0006950) 1.82DNM2, ERBB3
regulation of multicellular organismal process (GO:0051239) 1.872DNM2, ADCY6
cellular response to catecholamine stimulus (GO:0071870) 6.332DNM2, ADCY6
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722ZBTB42, ADCY6
organophosphate biosynthetic process (GO:0090407) 3.672PIP5K1C, ADCY6
regulation of hydrolase activity (GO:0051336) 2.532DNM2, ERBB3
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592ZBTB42, ADCY6
response to nitrogen compound (GO:1901698) 3.122DNM2, ADCY6
receptor-mediated endocytosis (GO:0006898) 4.312PIP5K1C, DNM2
regulation of transferase activity (GO:0051338) 2.882ERBB3, ADCY6
regulation of transcription, DNA-templated (GO:0006355) 1.562ZBTB42, DNM2
regulation of nervous system development (GO:0051960) 3.12DNM2, ADCY6
regulation of organelle organization (GO:0033043) 2.722MYBPC1, DNM2
phosphorylation (GO:0016310) 2.632PIP5K1C, ERBB3
regulation of cell adhesion (GO:0030155) 3.272DNM2, ERBB3
negative regulation of cellular component organization (GO:0051129) 3.352DNM2, ADCY6
positive regulation of signaling (GO:0023056) 2.412CNTNAP1, ERBB3
negative regulation of signaling (GO:0023057) 2.652DNM2, ERBB3
cellular nitrogen compound metabolic process (GO:0034641) 1.222ZBTB42, ADCY6
negative regulation of cell communication (GO:0010648) 2.662DNM2, ERBB3
cellular response to chemical stimulus (GO:0070887) 2.572DNM2, ADCY6
positive regulation of cell communication (GO:0010647) 2.412CNTNAP1, ERBB3
anatomical structure morphogenesis (GO:0009653) 2.532CNTNAP1, DNM2
response to organic cyclic compound (GO:0014070) 3.072DNM2, ADCY6
response to endogenous stimulus (GO:0009719) 2.792DNM2, ADCY6
regulation of neurogenesis (GO:0050767) 3.212DNM2, ADCY6
positive regulation of phosphorus metabolic process (GO:0010562) 2.782ERBB3, ADCY6
positive regulation of kinase activity (GO:0033674) 3.542ERBB3, ADCY6
positive regulation of protein metabolic process (GO:0051247) 2.432ERBB3, ADCY6
regulation of cell development (GO:0060284) 3.012DNM2, ADCY6
lipid phosphorylation (GO:0046834) 5.132PIP5K1C, ERBB3
positive regulation of cellular protein metabolic process (GO:0032270) 2.492ERBB3, ADCY6
single-organism localization (GO:1902578) 2.092PIP5K1C, DNM2
regulation of protein modification process (GO:0031399) 2.322ERBB3, ADCY6
cellular response to endogenous stimulus (GO:0071495) 3.332DNM2, ADCY6
organelle organization (GO:0006996) 2.022CNTNAP1, PIP5K1C
phospholipid metabolic process (GO:0006644) 3.882PIP5K1C, ERBB3
cellular response to nitrogen compound (GO:1901699) 3.792DNM2, ADCY6
cellular aromatic compound metabolic process (GO:0006725) 1.32ZBTB42, ADCY6
regulation of nucleic acid-templated transcription (GO:1903506) 1.552ZBTB42, DNM2
regulation of cell differentiation (GO:0045595) 2.422DNM2, ADCY6
cell-cell junction organization (GO:0045216) 4.662CNTNAP1, PIP5K1C
endocytosis (GO:0006897) 3.692PIP5K1C, DNM2
cellular lipid metabolic process (GO:0044255) 2.922PIP5K1C, ERBB3
regulation of phosphatidylinositol 3-kinase signaling (GO:0014066) 4.792PIP5K1C, ERBB3
lipid modification (GO:0030258) 4.372PIP5K1C, ERBB3
cell junction assembly (GO:0034329) 4.862CNTNAP1, PIP5K1C
cell part morphogenesis (GO:0032990) 3.992CNTNAP1, DNM2
cellular response to organic cyclic compound (GO:0071407) 3.932DNM2, ADCY6
regulation of RNA metabolic process (GO:0051252) 1.522ZBTB42, DNM2
positive regulation of protein kinase activity (GO:0045860) 3.612ERBB3, ADCY6
positive regulation of protein modification process (GO:0031401) 2.72ERBB3, ADCY6
glycerophospholipid metabolic process (GO:0006650) 4.132PIP5K1C, ERBB3
positive regulation of cellular biosynthetic process (GO:0031328) 2.32DNM2, ADCY6
cell projection organization (GO:0030030) 3.142CNTNAP1, DNM2
cell junction organization (GO:0034330) 4.512CNTNAP1, PIP5K1C
regulation of cell death (GO:0010941) 2.432DNM2, ERBB3
cellular response to organonitrogen compound (GO:0071417) 3.872DNM2, ADCY6
cellular component morphogenesis (GO:0032989) 3.52CNTNAP1, DNM2
regulation of programmed cell death (GO:0043067) 2.492DNM2, ERBB3
neuron projection morphogenesis (GO:0048812) 4.342CNTNAP1, DNM2
organic substance transport (GO:0071702) 2.152DNM2, GLE1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352DNM2, ADCY6
positive regulation of phosphate metabolic process (GO:0045937) 2.782ERBB3, ADCY6
regulation of phosphorus metabolic process (GO:0051174) 2.352ERBB3, ADCY6
single-organism transport (GO:0044765) 2.182PIP5K1C, DNM2
vesicle localization (GO:0051648) 4.852PIP5K1C, DNM2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292DNM2, ADCY6
response to chemical (GO:0042221) 1.982DNM2, ADCY6
organelle localization (GO:0051640) 3.942PIP5K1C, DNM2
response to oxygen-containing compound (GO:1901700) 2.572DNM2, ADCY6
cellular response to oxygen-containing compound (GO:1901701) 3.222DNM2, ADCY6
regulation of protein phosphorylation (GO:0001932) 2.572ERBB3, ADCY6
cytoskeleton organization (GO:0007010) 3.222CNTNAP1, PIP5K1C
cell projection morphogenesis (GO:0048858) 4.052CNTNAP1, DNM2
regulation of multicellular organismal development (GO:2000026) 2.312DNM2, ADCY6
protein transport (GO:0015031) 2.622DNM2, GLE1
single-organism cellular localization (GO:1902580) 3.162PIP5K1C, DNM2
positive regulation of protein phosphorylation (GO:0001934) 2.952ERBB3, ADCY6

NET-GE enrichment

Term New enriched termICP valueGenes
neuromuscular process controlling balance (GO:0050885) NEW5.880.025CNTNAP1, DNM2, ADCY6
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.118PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2, MYBPC1
membrane (GO:0016020) 0.687PIP5K1C, GLE1, CNTNAP1, ZBTB42, ADCY6, ERBB3, DNM2
intracellular part (GO:0044424) 0.286PIP5K1C, GLE1, ZBTB42, ADCY6, DNM2, MYBPC1
intracellular organelle (GO:0043229) 0.516PIP5K1C, GLE1, ZBTB42, ADCY6, DNM2, MYBPC1
organelle (GO:0043226) 0.46PIP5K1C, GLE1, ZBTB42, ADCY6, DNM2, MYBPC1
plasma membrane (GO:0005886) 1.396PIP5K1C, GLE1, ZBTB42, ADCY6, ERBB3, DNM2
protein complex (GO:0043234) 1.515CNTNAP1, ERBB3, MYBPC1, GLE1, DNM2
macromolecular complex (GO:0032991) 1.355CNTNAP1, ERBB3, MYBPC1, GLE1, DNM2
intracellular membrane-bounded organelle (GO:0043231) 0.65PIP5K1C, ZBTB42, GLE1, ADCY6, DNM2
plasma membrane part (GO:0044459) 1.955CNTNAP1, ERBB3, PIP5K1C, ADCY6, DNM2
membrane part (GO:0044425) 0.955PIP5K1C, ERBB3, CNTNAP1, ADCY6, DNM2
membrane-bounded organelle (GO:0043227) 0.475PIP5K1C, ZBTB42, GLE1, ADCY6, DNM2
cytoplasm (GO:0005737) 1.014PIP5K1C, ZBTB42, GLE1, DNM2
plasma membrane region (GO:0098590) 2.974PIP5K1C, ERBB3, DNM2, ADCY6
nucleus (GO:0005634) 1.074PIP5K1C, ZBTB42, GLE1, DNM2
cell projection part (GO:0044463) 2.974PIP5K1C, CNTNAP1, ADCY6, DNM2
intracellular organelle part (GO:0044446) 0.814MYBPC1, ZBTB42, DNM2, GLE1
cytoplasmic part (GO:0044444) 0.824PIP5K1C, MYBPC1, ADCY6, DNM2
cell projection (GO:0042995) 2.474PIP5K1C, CNTNAP1, ADCY6, DNM2
organelle part (GO:0044422) 0.794MYBPC1, ZBTB42, DNM2, GLE1
integral component of membrane (GO:0016021) 1.143CNTNAP1, ERBB3, ADCY6
cell projection membrane (GO:0031253) 4.113PIP5K1C, DNM2, ADCY6
extracellular region part (GO:0044421) 1.573DNM2, ERBB3, GLE1
neuron part (GO:0097458) 2.643CNTNAP1, PIP5K1C, DNM2
intrinsic component of plasma membrane (GO:0031226) 2.533CNTNAP1, ERBB3, ADCY6
cytosol (GO:0005829) 1.683PIP5K1C, MYBPC1, DNM2
intrinsic component of membrane (GO:0031224) 1.133CNTNAP1, ERBB3, ADCY6
endosome (GO:0005768) 3.252DNM2, ADCY6
phagocytic cup (GO:0001891) 6.912PIP5K1C, DNM2
anchoring junction (GO:0070161) 3.612PIP5K1C, DNM2
extracellular space (GO:0005615) 2.632ERBB3, GLE1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762MYBPC1, DNM2
vacuole (GO:0005773) 2.922DNM2, ADCY6
leading edge membrane (GO:0031256) 4.92PIP5K1C, DNM2
membrane region (GO:0098589) 3.952DNM2, ADCY6
non-membrane-bounded organelle (GO:0043228) 1.762MYBPC1, DNM2
nuclear part (GO:0044428) 1.552ZBTB42, GLE1
cytoskeletal part (GO:0044430) 2.492MYBPC1, DNM2
integral component of plasma membrane (GO:0005887) 2.572CNTNAP1, ERBB3
synapse (GO:0045202) 3.582PIP5K1C, DNM2
synapse part (GO:0044456) 3.422PIP5K1C, DNM2
cell-substrate adherens junction (GO:0005924) 3.832PIP5K1C, DNM2
focal adhesion (GO:0005925) 3.832PIP5K1C, DNM2
adherens junction (GO:0005912) 3.662PIP5K1C, DNM2
ruffle membrane (GO:0032587) 5.422PIP5K1C, DNM2
cell junction (GO:0030054) 2.752PIP5K1C, DNM2
cell-substrate junction (GO:0030055) 3.822PIP5K1C, DNM2

NET-GE enrichment

Term New enriched termICP valueGenes
axon (GO:0030424) NEW4.150.021CNTNAP1, ERBB3, DNM2, ADCY6