Disease table of HERMANSKY-PUDLAK SYNDROME OMIM ID: PS203300

Gene-disease associations table

GeneAssociated with HERMANSKY-PUDLAK SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AP3B1ClinVar, OMIM, HUMSAVARHGNC link5q14.11PS203300
BLOC1S6ClinVar, OMIMHGNC link15q21.11PS203300
BLOC1S3OMIMHGNC link19q13.321PS203300
HPS5ClinVar, OMIM, HUMSAVARHGNC link11p15.11PS203300
HPS4ClinVar, OMIMHGNC link22q12.11PS203300
HPS6ClinVar, OMIMHGNC link10q24.321PS203300
HPS1ClinVar, OMIMHGNC link10q24.21PS203300
HPS3ClinVar, OMIM, HUMSAVARHGNC link3q241PS203300
DTNBP1ClinVar, OMIMHGNC link6p22.32181500, PS203300

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
10q242HPS6, HPS1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
10q22HPS6, HPS1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
10q2HPS6, HPS1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
102HPS6, HPS1
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
AP3B1BLOC1S6No1DTNBP1
AP3B1BLOC1S3No2DTNBP1, XPO1
AP3B1HPS6No1XPO1
AP3B1DTNBP1Yes6AP3S2, VTI1B, AP3M1, AP3D1, XPO1, AP3S1
BLOC1S6BLOC1S3Yes7BLOC1S6, BLOC1S2, BCAS4, BLOC1S5, BLOC1S1, DTNBP1, SNAPIN
BLOC1S6HPS5No1CCDC22
BLOC1S6DTNBP1Yes14BLOC1S6, BLOC1S4, CCDC22, SNAPIN, NDN, BLOC1S2, HAUS1, BLOC1S3, BLOC1S5, IFT20, BCAS4, BLOC1S1, CCDC53, CCHCR1
BLOC1S3HPS6No1XPO1
BLOC1S3DTNBP1Yes7BLOC1S6, BLOC1S2, XPO1, BCAS4, BLOC1S5, BLOC1S1, SNAPIN
HPS5HPS6No1TCL1B
HPS5HPS3No2HERC2, TCL1B
HPS5DTNBP1No1CCDC22
HPS6HPS3No1TCL1B
HPS6DTNBP1No1XPO1

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
AP3B1HPS6No-1UBC
BLOC1S6BLOC1S3Yesbinding13BLOC1S4, SNAPIN, TXNDC5, HPS6, BLOC1S2, HPS3, BLOC1S5, HPS4, NAPA, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S6HPS5Yesbinding11BLOC1S4, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, SNAPIN
BLOC1S6HPS4Yesbinding11BLOC1S4, SNAPIN, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S6HPS6Yesbinding11BLOC1S4, SNAPIN, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S6HPS1Yesbinding11BLOC1S4, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S6HPS3Yesbinding11BLOC1S4, SNAPIN, HPS6, BLOC1S2, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S6DTNBP1Yesexpression, binding13BLOC1S4, SNAPIN, TXNDC5, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, NAPA, HPS1, BLOC1S1, HPS5
BLOC1S3HPS5Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, HPS4, HPS1, BLOC1S1, DTNBP1, SNAPIN
BLOC1S3HPS4Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, HPS6, BLOC1S2, HPS3, BLOC1S5, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S3HPS6Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, BLOC1S2, HPS3, BLOC1S5, HPS4, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S3HPS1Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, HPS4, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S3HPS3Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, HPS6, BLOC1S2, BLOC1S5, HPS4, HPS1, BLOC1S1, DTNBP1, HPS5
BLOC1S3DTNBP1Yesbinding, expression13BLOC1S6, BLOC1S4, SNAPIN, TXNDC5, HPS6, BLOC1S2, HPS3, BLOC1S5, HPS4, NAPA, HPS1, BLOC1S1, HPS5
HPS5HPS4Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, SNAPIN
HPS5HPS6Yesbinding11BLOC1S6, BLOC1S4, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, SNAPIN
HPS5HPS1Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
HPS5HPS3Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, SNAPIN
HPS5DTNBP1Yesbinding, expression11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, SNAPIN
HPS4HPS6Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
HPS4HPS1Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
HPS4HPS3Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, HPS6, BLOC1S2, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
HPS4DTNBP1Yesbinding, expression11BLOC1S6, BLOC1S4, SNAPIN, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, HPS5
HPS6HPS1Yesbinding11BLOC1S6, BLOC1S4, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
HPS6HPS3Yesbinding11BLOC1S6, BLOC1S4, SNAPIN, BLOC1S2, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, DTNBP1, HPS5
HPS6DTNBP1Yesbinding, expression11BLOC1S6, BLOC1S4, SNAPIN, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, HPS5
HPS1HPS3Yesbinding11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS4, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
HPS1DTNBP1Yesbinding, expression11BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, HPS4, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, HPS5
HPS3DTNBP1Yesbinding, expression11BLOC1S6, BLOC1S4, SNAPIN, HPS6, BLOC1S2, HPS4, BLOC1S5, BLOC1S3, HPS1, BLOC1S1, HPS5

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
AP3B1BLOC1S6YesAP3-BLOC1 complex13BLOC1S4, AP3S2, AP3B2, AP3M2, BLOC1S2, BLOC1S5, AP3M1, BLOC1S3, AP3D1, BLOC1S1, AP3S1, DTNBP1, SNAPIN
AP3B1BLOC1S3YesAP3-BLOC1 complex13BLOC1S6, BLOC1S4, AP3S2, AP3B2, AP3M2, BLOC1S2, BLOC1S5, AP3M1, AP3D1, BLOC1S1, AP3S1, DTNBP1, SNAPIN
AP3B1HPS5No-8BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
AP3B1HPS6No-8BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
AP3B1HPS3No-8BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
AP3B1DTNBP1YesAP3-BLOC1 complex13BLOC1S6, BLOC1S4, AP3S2, AP3B2, AP3M2, BLOC1S2, BLOC1S5, AP3M1, BLOC1S3, AP3D1, BLOC1S1, AP3S1, SNAPIN
BLOC1S6BLOC1S3YesBLOC1-BLOC2 complex;BLOC-1 (biogenesis of lysosome-related organelles complex 1);AP3-BLOC1 complex16BLOC1S4, AP3S2, AP3B2, AP3M2, HPS6, BLOC1S2, HPS3, AP3D1, BLOC1S5, AP3M1, SNAPIN, HPS5, BLOC1S1, AP3S1, DTNBP1, AP3B1
BLOC1S6HPS5YesBLOC1-BLOC2 complex9BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
BLOC1S6HPS6YesBLOC1-BLOC2 complex9BLOC1S4, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S6HPS3YesBLOC1-BLOC2 complex9BLOC1S4, HPS6, BLOC1S2, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S6DTNBP1YesBLOC1-BLOC2 complex;BLOC-1 (biogenesis of lysosome-related organelles complex 1);AP3-BLOC1 complex16BLOC1S4, AP3S2, AP3B2, AP3M2, HPS6, BLOC1S2, HPS3, AP3D1, BLOC1S5, AP3M1, BLOC1S3, SNAPIN, AP3B1, BLOC1S1, AP3S1, HPS5
BLOC1S3HPS5YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S1, DTNBP1, SNAPIN
BLOC1S3HPS6YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, BLOC1S2, HPS3, BLOC1S5, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S3HPS3YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, HPS6, BLOC1S2, BLOC1S5, SNAPIN, BLOC1S1, DTNBP1, HPS5
BLOC1S3DTNBP1YesBLOC1-BLOC2 complex;BLOC-1 (biogenesis of lysosome-related organelles complex 1);AP3-BLOC1 complex16BLOC1S6, BLOC1S4, AP3S2, AP3B2, AP3M2, HPS6, BLOC1S2, HPS3, AP3D1, BLOC1S5, AP3M1, SNAPIN, AP3B1, BLOC1S1, AP3S1, HPS5
HPS5HPS6YesBLOC-2 (biogenesis of lysosome-related organelles complex 2);BLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
HPS5HPS3YesBLOC-2 (biogenesis of lysosome-related organelles complex 2);BLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, HPS6, BLOC1S2, BLOC1S5, BLOC1S3, BLOC1S1, DTNBP1, SNAPIN
HPS5DTNBP1YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, HPS6, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, BLOC1S1, SNAPIN
HPS4HPS1YesBLOC-3 (biogenesis of lysosome-related organelles complex 3)0
HPS6HPS3YesBLOC-2 (biogenesis of lysosome-related organelles complex 2);BLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, DTNBP1, HPS5
HPS6DTNBP1YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, BLOC1S2, HPS3, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, HPS5
HPS3DTNBP1YesBLOC1-BLOC2 complex9BLOC1S6, BLOC1S4, HPS6, BLOC1S2, BLOC1S5, BLOC1S3, SNAPIN, BLOC1S1, HPS5

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

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
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
Membrane TraffickingR-HSA-1999915.264BLOC1S6, BLOC1S3, DTNBP1, AP3B1
trans-Golgi Network Vesicle BuddingR-HSA-1999926.854BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Golgi Associated Vesicle BiogenesisR-HSA-4327227.234BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Clathrin derived vesicle buddingR-HSA-4218376.854BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Vesicle-mediated transportR-HSA-56536564.334BLOC1S6, BLOC1S3, DTNBP1, AP3B1

NET-GE enrichment

Term New enriched termICP valueGenes
Membrane Trafficking (R-HSA-199991) -5.260.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
trans-Golgi Network Vesicle Budding (R-HSA-199992) -6.850.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Golgi Associated Vesicle Biogenesis (R-HSA-432722) -7.230.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Clathrin derived vesicle budding (R-HSA-421837) -6.850.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
Vesicle-mediated transport (R-HSA-5653656) -4.330.004BLOC1S6, BLOC1S3, DTNBP1, AP3B1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.187BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
protein binding (GO:0005515) 0.467BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
protein dimerization activity (GO:0046983) 2.723BLOC1S6, HPS4, HPS1
GTP-dependent protein binding (GO:0030742) 6.912HPS6, AP3B1
identical protein binding (GO:0042802) 2.632BLOC1S6, HPS4
enzyme binding (GO:0019899) 2.272HPS6, AP3B1
protein homodimerization activity (GO:0042803) 3.162BLOC1S6, HPS4

NET-GE enrichment

Term New enriched termICP valueGenes
syntaxin binding (GO:0019905) NEW5.190.028BLOC1S6, DTNBP1
GTP-dependent protein binding (GO:0030742) -6.910.0HPS6, AP3B1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle organization (GO:0006996) 2.029BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cellular process (GO:0009987) 0.269BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cellular component organization (GO:0016043) 1.249BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cellular component organization or biogenesis (GO:0071840) 1.229BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
multicellular organismal process (GO:0032501) 1.458BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
single-organism process (GO:0044699) 0.488BLOC1S6, HPS6, HPS3, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
hemostasis (GO:0007599) 4.57BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
regulation of body fluid levels (GO:0050878) 3.767BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
single-multicellular organism process (GO:0044707) 1.787BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
blood coagulation (GO:0007596) 4.527BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
coagulation (GO:0050817) 4.517BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
biological regulation (GO:0065007) 0.397BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
regulation of biological quality (GO:0065008) 1.687BLOC1S6, HPS6, HPS4, BLOC1S3, AP3B1, DTNBP1, HPS5
single-organism cellular process (GO:0044763) 0.656BLOC1S6, HPS6, HPS4, BLOC1S3, DTNBP1, AP3B1
localization (GO:0051179) 1.46BLOC1S6, HPS6, HPS4, BLOC1S3, DTNBP1, AP3B1
cellular localization (GO:0051641) 2.326BLOC1S6, HPS6, HPS4, BLOC1S3, DTNBP1, AP3B1
pigmentation (GO:0043473) 5.95BLOC1S6, BLOC1S3, HPS3, HPS6, HPS5
protein localization (GO:0008104) 2.365BLOC1S6, BLOC1S3, HPS4, HPS6, AP3B1
intracellular transport (GO:0046907) 2.675BLOC1S6, HPS4, DTNBP1, BLOC1S3, AP3B1
establishment of localization (GO:0051234) 1.485BLOC1S6, HPS4, DTNBP1, BLOC1S3, AP3B1
transport (GO:0006810) 1.515BLOC1S6, DTNBP1, HPS4, BLOC1S3, AP3B1
regulation of cellular process (GO:0050794) 0.55BLOC1S6, DTNBP1, HPS4, BLOC1S3, AP3B1
establishment of localization in cell (GO:0051649) 2.475BLOC1S6, HPS4, DTNBP1, BLOC1S3, AP3B1
positive regulation of biological process (GO:0048518) 1.25BLOC1S6, DTNBP1, HPS4, BLOC1S3, AP3B1
positive regulation of cellular process (GO:0048522) 1.35BLOC1S6, HPS4, DTNBP1, BLOC1S3, AP3B1
macromolecule localization (GO:0033036) 2.345BLOC1S6, BLOC1S3, HPS4, HPS6, AP3B1
regulation of biological process (GO:0050789) 0.455BLOC1S6, HPS4, DTNBP1, BLOC1S3, AP3B1
single-organism localization (GO:1902578) 2.095BLOC1S6, BLOC1S3, DTNBP1, HPS6, AP3B1
single-organism cellular localization (GO:1902580) 3.165BLOC1S6, BLOC1S3, DTNBP1, HPS6, AP3B1
synaptic vesicle transport along microtubule (GO:0099517) 7.024BLOC1S6, BLOC1S3, DTNBP1, AP3B1
synaptic vesicle cytoskeletal transport (GO:0099514) 7.024BLOC1S6, BLOC1S3, DTNBP1, AP3B1
pigment granule organization (GO:0048753) 6.554BLOC1S6, BLOC1S3, DTNBP1, AP3B1
melanosome organization (GO:0032438) 6.594BLOC1S6, BLOC1S3, DTNBP1, AP3B1
vesicle cytoskeletal trafficking (GO:0099518) 6.074BLOC1S6, BLOC1S3, DTNBP1, AP3B1
movement of cell or subcellular component (GO:0006928) 2.614BLOC1S6, BLOC1S3, DTNBP1, AP3B1
cytoskeleton-dependent intracellular transport (GO:0030705) 4.964BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of vesicle localization (GO:0051650) 4.914BLOC1S6, BLOC1S3, DTNBP1, AP3B1
synaptic vesicle transport (GO:0048489) 5.334BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of organelle localization (GO:0051656) 4.154BLOC1S6, BLOC1S3, DTNBP1, AP3B1
cellular developmental process (GO:0048869) 1.824BLOC1S6, DTNBP1, HPS4, HPS6
vesicle transport along microtubule (GO:0047496) 6.174BLOC1S6, BLOC1S3, DTNBP1, AP3B1
microtubule-based movement (GO:0007018) 4.394BLOC1S6, BLOC1S3, DTNBP1, AP3B1
axo-dendritic transport (GO:0008088) 6.124BLOC1S6, BLOC1S3, DTNBP1, AP3B1
anterograde axonal transport (GO:0008089) 6.474BLOC1S6, BLOC1S3, DTNBP1, AP3B1
organelle localization (GO:0051640) 3.944BLOC1S6, BLOC1S3, DTNBP1, AP3B1
organic substance transport (GO:0071702) 2.154BLOC1S6, HPS4, BLOC1S3, AP3B1
synaptic vesicle localization (GO:0097479) 5.314BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of protein localization (GO:0045184) 2.534BLOC1S6, HPS4, BLOC1S3, AP3B1
single-organism transport (GO:0044765) 2.184BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of localization by movement along microtubule (GO:0010970) 5.144BLOC1S6, BLOC1S3, DTNBP1, AP3B1
anterograde synaptic vesicle transport (GO:0048490) 7.024BLOC1S6, BLOC1S3, DTNBP1, AP3B1
vesicle localization (GO:0051648) 4.854BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of synaptic vesicle localization (GO:0097480) 5.334BLOC1S6, BLOC1S3, DTNBP1, AP3B1
microtubule-based process (GO:0007017) 3.544BLOC1S6, BLOC1S3, DTNBP1, AP3B1
vesicle-mediated transport (GO:0016192) 2.724BLOC1S6, BLOC1S3, DTNBP1, AP3B1
organelle transport along microtubule (GO:0072384) 5.634BLOC1S6, BLOC1S3, DTNBP1, AP3B1
vesicle organization (GO:0016050) 4.134BLOC1S6, BLOC1S3, DTNBP1, AP3B1
(GO:0098930) 6.264BLOC1S6, BLOC1S3, DTNBP1, AP3B1
protein transport (GO:0015031) 2.624BLOC1S6, HPS4, BLOC1S3, AP3B1
single-organism intracellular transport (GO:1902582) 3.594BLOC1S6, BLOC1S3, DTNBP1, AP3B1
positive regulation of lymphocyte activation (GO:0051251) 4.073BLOC1S6, BLOC1S3, AP3B1
regulation of lymphocyte activation (GO:0051249) 3.733BLOC1S6, BLOC1S3, AP3B1
melanocyte differentiation (GO:0030318) 6.733BLOC1S6, HPS4, HPS6
vacuolar transport (GO:0007034) 4.183BLOC1S6, BLOC1S3, AP3B1
cell projection organization (GO:0030030) 3.143BLOC1S6, BLOC1S3, DTNBP1
response to stimulus (GO:0050896) 1.223BLOC1S3, DTNBP1, HPS1
cell differentiation (GO:0030154) 2.143BLOC1S6, HPS4, HPS6
regulation of cell activation (GO:0050865) 3.533BLOC1S6, BLOC1S3, AP3B1
positive regulation of cell activation (GO:0050867) 3.973BLOC1S6, BLOC1S3, AP3B1
regulation of leukocyte activation (GO:0002694) 3.63BLOC1S6, BLOC1S3, AP3B1
positive regulation of immune system process (GO:0002684) 2.963BLOC1S6, BLOC1S3, AP3B1
positive regulation of leukocyte activation (GO:0002696) 4.03BLOC1S6, BLOC1S3, AP3B1
regulation of immune system process (GO:0002682) 2.53BLOC1S6, BLOC1S3, AP3B1
neuron projection development (GO:0031175) 4.583BLOC1S6, BLOC1S3, DTNBP1
pigment cell differentiation (GO:0050931) 6.643BLOC1S6, HPS4, HPS6
positive regulation of developmental pigmentation (GO:0048087) 7.532BLOC1S6, HPS4
regulation of cellular localization (GO:0060341) 3.032HPS4, DTNBP1
regulation of transport (GO:0051049) 2.242HPS4, DTNBP1
membrane organization (GO:0061024) 3.042BLOC1S6, HPS6
secretion by cell (GO:0032940) 3.592BLOC1S6, BLOC1S3
platelet dense granule organization (GO:0060155) 7.652BLOC1S3, DTNBP1
lysosome organization (GO:0007040) 6.022HPS4, HPS1
regulation of developmental pigmentation (GO:0048070) 6.962BLOC1S6, HPS4
secretion of lysosomal enzymes (GO:0033299) 9.042BLOC1S6, BLOC1S3
cellular macromolecule localization (GO:0070727) 3.12HPS6, AP3B1
intracellular protein transport (GO:0006886) 3.22HPS4, AP3B1
pigment granule localization (GO:0051875) 6.552BLOC1S6, BLOC1S3
endosome to melanosome transport (GO:0035646) 7.432BLOC1S6, BLOC1S3
melanosome transport (GO:0032402) 6.682BLOC1S6, BLOC1S3
establishment of melanosome localization (GO:0032401) 6.642BLOC1S6, BLOC1S3
melanosome localization (GO:0032400) 6.592BLOC1S6, BLOC1S3
developmental process (GO:0032502) 1.362BLOC1S3, DTNBP1
regulation of natural killer cell activation (GO:0032814) 6.42BLOC1S6, BLOC1S3
positive regulation of natural killer cell activation (GO:0032816) 6.782BLOC1S6, BLOC1S3
positive regulation of transport (GO:0051050) 2.92HPS4, DTNBP1
protein secretion (GO:0009306) 4.972BLOC1S6, BLOC1S3
cellular protein localization (GO:0034613) 3.112HPS6, AP3B1
protein targeting (GO:0006605) 4.082HPS4, AP3B1
single-organism developmental process (GO:0044767) 1.492BLOC1S3, DTNBP1
regulation of cell differentiation (GO:0045595) 2.422BLOC1S6, AP3B1
regulation of localization (GO:0032879) 1.942HPS4, DTNBP1
endosomal transport (GO:0016197) 4.282BLOC1S6, BLOC1S3
vacuole organization (GO:0007033) 4.672HPS4, HPS1
secretion (GO:0046903) 3.382BLOC1S6, BLOC1S3
positive regulation of cell differentiation (GO:0045597) 3.012BLOC1S6, AP3B1
establishment of pigment granule localization (GO:0051905) 6.592BLOC1S6, BLOC1S3
pigment granule transport (GO:0051904) 6.642BLOC1S6, BLOC1S3
lytic vacuole organization (GO:0080171) 6.022HPS4, HPS1
endosome to pigment granule transport (GO:0043485) 7.432BLOC1S6, BLOC1S3
secretory granule organization (GO:0033363) 6.432BLOC1S3, DTNBP1

NET-GE enrichment

Term New enriched termICP valueGenes
coagulation (GO:0050817) -4.510.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
hemostasis (GO:0007599) -4.50.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
positive regulation of developmental pigmentation (GO:0048087) -7.530.019BLOC1S6, HPS4
regulation of cell activation (GO:0050865) -3.530.007BLOC1S6, BLOC1S3, HPS1, AP3B1
pigment granule organization (GO:0048753) -6.550.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
melanosome organization (GO:0032438) -6.590.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
lysosome organization (GO:0007040) -6.020.019HPS4, HPS1
developmental pigmentation (GO:0048066) NEW6.960.023BLOC1S3, HPS1
cytoskeleton-dependent intracellular transport (GO:0030705) -4.960.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
platelet dense granule organization (GO:0060155) -7.650.001BLOC1S3, DTNBP1, AP3B1
cellular component organization (GO:0016043) -1.240.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
neuron projection development (GO:0031175) -4.580.006BLOC1S6, BLOC1S3, DTNBP1
establishment of organelle localization (GO:0051656) -4.150.032BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of vesicle localization (GO:0051650) -4.910.004BLOC1S6, BLOC1S3, DTNBP1, AP3B1
cellular component organization or biogenesis (GO:0071840) -1.220.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
synaptic vesicle transport (GO:0048489) -5.330.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
regulation of lymphocyte activation (GO:0051249) -3.730.048BLOC1S6, BLOC1S3, DTNBP1, HPS1, AP3B1
regulation of body fluid levels (GO:0050878) -3.760.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
pigment granule transport (GO:0051904) -6.640.001BLOC1S6, BLOC1S3, DTNBP1
endosome to pigment granule transport (GO:0043485) -7.430.001BLOC1S6, BLOC1S3, AP3B1
Golgi vesicle transport (GO:0048193) NEW4.070.02BLOC1S6, BLOC1S3, DTNBP1
axon cargo transport (GO:0008088) -6.120.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
anterograde axon cargo transport (GO:0008089) -6.470.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
protein secretion (GO:0009306) -4.970.001BLOC1S6, BLOC1S3, DTNBP1, HPS1
endosome to melanosome transport (GO:0035646) -7.430.0BLOC1S6, BLOC1S3, AP3B1
epithelial cell differentiation (GO:0030855) NEW3.980.002BLOC1S6, HPS4, HPS1, HPS6
neuroepithelial cell differentiation (GO:0060563) NEW6.510.0BLOC1S6, HPS4, HPS1, HPS6
melanosome transport (GO:0032402) -6.680.001BLOC1S6, BLOC1S3, DTNBP1
establishment of melanosome localization (GO:0032401) -6.640.001BLOC1S6, BLOC1S3, DTNBP1
regulation of biological quality (GO:0065008) -1.680.0BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
positive regulation of cell activation (GO:0050867) -3.970.018BLOC1S6, BLOC1S3, DTNBP1, HPS1, AP3B1
multicellular organismal process (GO:0032501) -1.450.001BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
columnar/cuboidal epithelial cell differentiation (GO:0002065) NEW5.840.0BLOC1S6, HPS4, HPS1, HPS6
organelle organization (GO:0006996) -2.020.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
blood coagulation (GO:0007596) -4.520.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
regulation of natural killer cell activation (GO:0032814) -6.40.0BLOC1S6, BLOC1S3, DTNBP1, HPS1
melanocyte differentiation (GO:0030318) -6.730.0BLOC1S6, HPS4, HPS1, HPS6
positive regulation of natural killer cell activation (GO:0032816) -6.780.0BLOC1S6, BLOC1S3, DTNBP1, HPS1
pigmentation (GO:0043473) -5.90.0BLOC1S3, HPS3, HPS1, HPS5
establishment of protein localization (GO:0045184) -2.530.027BLOC1S6, BLOC1S3, HPS4, HPS1, AP3B1
pigment cell differentiation (GO:0050931) -6.640.0BLOC1S6, HPS4, HPS1, HPS6
regulation of developmental pigmentation (GO:0048070) -6.960.006BLOC1S6, HPS4
secretion of lysosomal enzymes (GO:0033299) -9.040.0BLOC1S6, BLOC1S3, HPS1
microtubule-based transport (GO:0010970) -5.140.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
anterograde synaptic vesicle transport (GO:0048490) -7.020.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
establishment of localization in cell (GO:0051649) -2.470.006BLOC1S6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
establishment of synaptic vesicle localization (GO:0097480) -5.330.0BLOC1S6, BLOC1S3, DTNBP1, AP3B1
endosomal transport (GO:0016197) -4.280.016BLOC1S6, BLOC1S3, DTNBP1, AP3B1
post-Golgi vesicle-mediated transport (GO:0006892) NEW5.620.002BLOC1S6, BLOC1S3, DTNBP1
microtubule-based process (GO:0007017) -3.540.01BLOC1S6, BLOC1S3, DTNBP1, AP3B1
single-multicellular organism process (GO:0044707) -1.780.001BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
intracellular transport (GO:0046907) -2.670.024BLOC1S6, DTNBP1, HPS4, BLOC1S3, AP3B1
membrane organization (GO:0061024) -3.040.013BLOC1S6, BLOC1S3, DTNBP1, HPS6
positive regulation of lymphocyte activation (GO:0051251) -4.070.009BLOC1S6, BLOC1S3, DTNBP1, HPS1, AP3B1
microtubule-based movement (GO:0007018) -4.390.023BLOC1S6, BLOC1S3, DTNBP1, AP3B1
vesicle organization (GO:0016050) -4.130.0BLOC1S6, BLOC1S3, DTNBP1, HPS6, AP3B1
establishment of pigment granule localization (GO:0051905) -6.590.001BLOC1S6, BLOC1S3, DTNBP1
regulation of leukocyte activation (GO:0002694) -3.60.005BLOC1S6, BLOC1S3, HPS1, AP3B1
positive regulation of leukocyte activation (GO:0002696) -4.00.013BLOC1S6, DTNBP1, BLOC1S3, HPS1, AP3B1
protein transport (GO:0015031) -2.620.02BLOC1S6, BLOC1S3, HPS4, HPS1, AP3B1
single-organism intracellular transport (GO:1902582) -3.590.008BLOC1S6, HPS6, HPS3, HPS4, BLOC1S3, DTNBP1, AP3B1
secretory granule organization (GO:0033363) -6.430.0BLOC1S6, BLOC1S3, DTNBP1, HPS6
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.519BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cytoplasm (GO:0005737) 1.019BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
macromolecular complex (GO:0032991) 1.359BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cell part (GO:0044464) 0.119BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cytoplasmic part (GO:0044444) 0.829BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
intracellular part (GO:0044424) 0.289BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cytosolic part (GO:0044445) 4.348BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, DTNBP1, HPS5
BLOC complex (GO:0031082) 6.718BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, DTNBP1, HPS5
intracellular organelle (GO:0043229) 0.517BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
membrane-bounded organelle (GO:0043227) 0.477BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
intracellular membrane-bounded organelle (GO:0043231) 0.67BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
organelle (GO:0043226) 0.47BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
cytoplasmic vesicle (GO:0031410) 2.876BLOC1S6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
vesicle (GO:0031982) 1.646BLOC1S6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
intracellular vesicle (GO:0097708) 2.866BLOC1S6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
vacuole (GO:0005773) 2.925HPS1, BLOC1S6, HPS4, DTNBP1, HPS6
cytosol (GO:0005829) 1.685BLOC1S6, BLOC1S3, DTNBP1, HPS6, HPS5
membrane (GO:0016020) 0.685BLOC1S6, DTNBP1, HPS4, HPS6, AP3B1
cell projection part (GO:0044463) 2.974BLOC1S6, BLOC1S3, DTNBP1, AP3B1
cell projection cytoplasm (GO:0032838) 5.894BLOC1S6, BLOC1S3, DTNBP1, AP3B1
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.124BLOC1S6, BLOC1S3, HPS4, HPS1
axon cytoplasm (GO:1904115) 6.284BLOC1S6, BLOC1S3, DTNBP1, AP3B1
membrane-bounded vesicle (GO:0031988) 1.714BLOC1S6, BLOC1S3, HPS4, HPS1
intracellular organelle part (GO:0044446) 0.814BLOC1S6, DTNBP1, HPS6, AP3B1
neuron part (GO:0097458) 2.644BLOC1S6, BLOC1S3, DTNBP1, AP3B1
axon part (GO:0033267) 4.44BLOC1S6, BLOC1S3, DTNBP1, AP3B1
membrane part (GO:0044425) 0.954BLOC1S6, DTNBP1, HPS1, AP3B1
cytoplasmic region (GO:0099568) 4.514BLOC1S6, BLOC1S3, DTNBP1, AP3B1
organelle part (GO:0044422) 0.794BLOC1S6, DTNBP1, HPS6, AP3B1
BLOC-2 complex (GO:0031084) 8.73HPS3, HPS6, HPS5
BLOC-1 complex (GO:0031083) 6.973BLOC1S6, BLOC1S3, DTNBP1
bounding membrane of organelle (GO:0098588) 2.393DTNBP1, HPS6, AP3B1
vacuolar membrane (GO:0005774) 3.453DTNBP1, HPS6, AP3B1
vacuolar part (GO:0044437) 3.263DTNBP1, HPS6, AP3B1
endosome (GO:0005768) 3.253BLOC1S6, DTNBP1, HPS6
whole membrane (GO:0098805) 2.853DTNBP1, HPS6, AP3B1
organelle membrane (GO:0031090) 1.973DTNBP1, HPS6, AP3B1
vesicle membrane (GO:0012506) 3.632DTNBP1, AP3B1
lysosome (GO:0005764) 3.892HPS4, HPS1
BLOC-3 complex (GO:0031085) 9.112HPS4, HPS1
lytic vacuole (GO:0000323) 3.892HPS4, HPS1
endoplasmic reticulum (GO:0005783) 2.562DTNBP1, HPS6
membrane protein complex (GO:0098796) 2.842BLOC1S6, AP3B1
integral component of membrane (GO:0016021) 1.142HPS1, AP3B1
cytoplasmic vesicle part (GO:0044433) 3.412DTNBP1, AP3B1
cytoplasmic vesicle membrane (GO:0030659) 3.672DTNBP1, AP3B1
synapse part (GO:0044456) 3.422BLOC1S6, DTNBP1
endosomal part (GO:0044440) 3.732DTNBP1, HPS6
transport vesicle (GO:0030133) 4.32BLOC1S6, BLOC1S3
plasma membrane part (GO:0044459) 1.952DTNBP1, HPS1
intrinsic component of membrane (GO:0031224) 1.132HPS1, AP3B1
endosome membrane (GO:0010008) 3.832DTNBP1, HPS6

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex (GO:0043234) -1.510.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
BLOC-2 complex (GO:0031084) -8.70.0HPS3, HPS6, HPS5
BLOC-3 complex (GO:0031085) -9.110.0HPS4, HPS1
macromolecular complex (GO:0032991) -1.350.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
BLOC-1 complex (GO:0031083) -6.970.0BLOC1S6, BLOC1S3, DTNBP1
cytoplasmic membrane-bounded vesicle (GO:0016023) -3.120.001BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
cytoplasmic vesicle (GO:0031410) -2.870.002BLOC1S6, HPS6, HPS4, HPS1, BLOC1S3, DTNBP1, AP3B1
vacuole (GO:0005773) -2.920.046HPS1, HPS4, HPS6, AP3B1
cytoplasmic part (GO:0044444) -0.820.018BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, AP3B1, DTNBP1, HPS5
cytosolic part (GO:0044445) -4.340.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, DTNBP1, HPS5
BLOC complex (GO:0031082) -6.710.0BLOC1S6, HPS6, HPS3, HPS4, HPS1, BLOC1S3, DTNBP1, HPS5
transport vesicle (GO:0030133) -4.30.028BLOC1S6, BLOC1S3, DTNBP1