Gene-disease associations table

GeneAssociated with STUTTERING, FAMILIAL PERSISTENT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AP4E1ClinVar, OMIMHGNC link15q21.22PS184450, PS303350
NAGPAClinVarHGNC link16p13.31PS184450

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
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
AP4E1NAGPAyes, maybe indirectAdaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1); AP4M1 interacts with NAGPA. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Lysosomehsa041425.782NAGPA, AP4E1

NET-GE enrichment

Term New enriched termICP valueGenes
Transport and catabolismNEW3.490.032NAGPA, AP4E1
Lysosome (hsa04142) -5.780.001NAGPA, AP4E1
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.362NAGPA, AP4E1
intracellular transport (GO:0046907) 2.672AP4E1, NAGPA
establishment of localization (GO:0051234) 1.482NAGPA, AP4E1
intracellular protein transport (GO:0006886) 3.22AP4E1, NAGPA
transport (GO:0006810) 1.512NAGPA, AP4E1
establishment of protein localization (GO:0045184) 2.532AP4E1, NAGPA
organic substance transport (GO:0071702) 2.152NAGPA, AP4E1
protein transport (GO:0015031) 2.622AP4E1, NAGPA
macromolecule localization (GO:0033036) 2.342AP4E1, NAGPA
localization (GO:0051179) 1.42AP4E1, NAGPA
establishment of localization in cell (GO:0051649) 2.472AP4E1, NAGPA
cellular localization (GO:0051641) 2.322NAGPA, AP4E1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
Golgi apparatus (GO:0005794) 2.72AP4E1, NAGPA
bounding membrane of organelle (GO:0098588) 2.392AP4E1, NAGPA
organelle membrane (GO:0031090) 1.972NAGPA, AP4E1
cytoplasmic part (GO:0044444) 0.822AP4E1, NAGPA
integral component of membrane (GO:0016021) 1.142AP4E1, NAGPA
membrane (GO:0016020) 0.682NAGPA, AP4E1
cell part (GO:0044464) 0.112NAGPA, AP4E1
Golgi apparatus part (GO:0044431) 3.02AP4E1, NAGPA
Golgi membrane (GO:0000139) 3.282NAGPA, AP4E1
intracellular organelle part (GO:0044446) 0.812NAGPA, AP4E1
intracellular organelle (GO:0043229) 0.512AP4E1, NAGPA
organelle part (GO:0044422) 0.792NAGPA, AP4E1
intracellular part (GO:0044424) 0.282NAGPA, AP4E1
membrane part (GO:0044425) 0.952NAGPA, AP4E1
membrane-bounded organelle (GO:0043227) 0.472AP4E1, NAGPA
organelle (GO:0043226) 0.42AP4E1, NAGPA
intrinsic component of membrane (GO:0031224) 1.132NAGPA, AP4E1
intracellular membrane-bounded organelle (GO:0043231) 0.62AP4E1, NAGPA