Disease table of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN OMIM ID: PS227220

Gene-disease associations table

GeneAssociated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MC1ROMIMHGNC link16q24.34PS227220, 613098, PS155600, PS203100
TPCN2ClinVar, OMIMHGNC link11q13.31PS227220
IRF4ClinVar, OMIMHGNC link6p25.31PS227220
SLC24A4ClinVar, OMIMHGNC link14q32.122PS227220, PS104500
SLC24A5ClinVar, OMIMHGNC link15q21.12PS227220, PS203100
SLC45A2ClinVar, OMIMHGNC link5p13.22PS227220, PS203100
HERC2ClinVar, OMIMHGNC link15q13.12PS227220, PS249500
TYRP1ClinVar, OMIMHGNC link9p232PS227220, PS203100
OCA2ClinVar, OMIMHGNC link15q13.12PS227220, PS203100
KITLGClinVar, OMIMHGNC link12q21.323PS227220, PS124900, 145250
TYRClinVar, OMIMHGNC link11q14.34PS193500, PS227220, PS155600, PS203100
ASIPClinVar, OMIMHGNC link20q11.221PS227220

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
15q13.12OCA2, HERC2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
15q132OCA2, HERC2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11q12TPCN2, TYR
15q12OCA2, HERC2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
15q3OCA2, SLC24A5, HERC2
11q2TPCN2, TYR
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
112TPCN2, TYR
153OCA2, SLC24A5, HERC2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
IRF4YES10FCER2, BCL6, IL4, MS4A1, CXCL9, IRF7, NFATC2, IL10, CD68, CARD110
TFEBNO2TYRP1, TYR2TYRP1, TYR
MITFNO27BEST1, MET, MC1R, TYR, BCL2A1, TRAP, FOS, DCT, BIRC7, TRPM1, CD82, ITGA4, PPARGC1A, KIT, GPNMB, MLANA, KCNMA1, OCA2, PMEL, HOXB4, CDK2, PRKCB, TYRP1, CTSK, HIF1A, ACP5, SERPINF14TYRP1, MC1R, TYR, OCA2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
MC1RYES1MITF0
IRF4YES5CEBPB, NFKB1, STAT6, BCL6, RELA0
TYRP1YES2TFEB, MITF0
OCA2YES3LEF1, HLTF, MITF0
TYRYES4TFEB, OTX2, SOX9, MITF0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MC1RHERC2No1RIC8A
HERC2TYRP1No1RAB5A

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
MC1RSLC24A5No-1ASIP
MC1RSLC45A2No-1MITF
MC1RASIPYesinhibition, binding0
IRF4KITLGNo-2SOCS1, STAT3
SLC24A5ASIPYesexpression0

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
Melanogenesishsa049165.975TYRP1, ASIP, MC1R, TYR, KITLG
Metabolic pathwayshsa011002.492TYRP1, TYR
Tyrosine metabolismhsa003507.642TYRP1, TYR

NET-GE enrichment

Term New enriched termICP valueGenes
Melanogenesis (hsa04916) -5.970.0TYR, TYRP1, MC1R, ASIP, KITLG
Tyrosine metabolism (hsa00350) -7.640.015TYRP1, TYR
Endocrine systemNEW3.260.006TYRP1, ASIP, MC1R, TYR, KITLG
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Immune SystemR-HSA-1682562.373HERC2, IRF4, KITLG
Transmembrane transport of small moleculesR-HSA-3825513.793TPCN2, SLC24A5, SLC24A4
Signaling by GPCRR-HSA-3727902.682MC1R, KITLG
Cytokine Signaling in Immune systemR-HSA-12802153.742IRF4, KITLG
SLC-mediated transmembrane transportR-HSA-4254074.952SLC24A5, SLC24A4
Sodium/Calcium exchangersR-HSA-4255619.812SLC24A5, SLC24A4
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.412SLC24A5, SLC24A4
Adaptive Immune SystemR-HSA-12802183.192HERC2, KITLG
Signal TransductionR-HSA-1625821.782MC1R, KITLG

NET-GE enrichment

Term New enriched termICP valueGenes
Sodium/Calcium exchangers (R-HSA-425561) -9.810.0ASIP, SLC24A5, SLC24A4
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1811TPCN2, SLC24A5, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, ASIP, OCA2
protein binding (GO:0005515) 0.469TPCN2, KITLG, IRF4, MC1R, HERC2, TYR, TYRP1, ASIP, OCA2
substrate-specific transmembrane transporter activity (GO:0022891) 2.95SLC45A2, TPCN2, SLC24A5, OCA2, SLC24A4
cation binding (GO:0043169) 1.45TYRP1, HERC2, TYR, SLC24A5, SLC24A4
substrate-specific transporter activity (GO:0022892) 2.725SLC45A2, TPCN2, SLC24A5, OCA2, SLC24A4
transporter activity (GO:0005215) 2.575SLC45A2, TPCN2, SLC24A5, OCA2, SLC24A4
ion binding (GO:0043167) 1.365TYRP1, SLC24A5, TYR, HERC2, SLC24A4
catalytic activity (GO:0003824) 1.055TYRP1, TYR, HERC2, IRF4, KITLG
transmembrane transporter activity (GO:0022857) 2.825SLC45A2, TPCN2, SLC24A5, OCA2, SLC24A4
metal ion binding (GO:0046872) 1.415TYRP1, SLC24A5, TYR, HERC2, SLC24A4
ion transmembrane transporter activity (GO:0015075) 3.044SLC45A2, TPCN2, SLC24A5, SLC24A4
cation transmembrane transporter activity (GO:0008324) 3.324SLC45A2, TPCN2, SLC24A5, SLC24A4
calcium ion transmembrane transporter activity (GO:0015085) 4.893TPCN2, SLC24A5, SLC24A4
substrate-specific channel activity (GO:0022838) 3.673TPCN2, SLC24A5, SLC24A4
cation channel activity (GO:0005261) 4.043TPCN2, SLC24A5, SLC24A4
symporter activity (GO:0015293) 4.783SLC45A2, SLC24A5, SLC24A4
transition metal ion binding (GO:0046914) 2.483TYRP1, TYR, HERC2
calcium channel activity (GO:0005262) 5.033TPCN2, SLC24A5, SLC24A4
ion channel activity (GO:0005216) 3.713TPCN2, SLC24A5, SLC24A4
enzyme binding (GO:0019899) 2.273MC1R, HERC2, TPCN2
divalent inorganic cation transmembrane transporter activity (GO:0072509) 4.623TPCN2, SLC24A5, SLC24A4
transferase activity (GO:0016740) 1.953HERC2, IRF4, KITLG
channel activity (GO:0015267) 3.63TPCN2, SLC24A5, SLC24A4
identical protein binding (GO:0042802) 2.633TYRP1, TPCN2, TYR
secondary active transmembrane transporter activity (GO:0015291) 4.293SLC45A2, SLC24A5, SLC24A4
passive transmembrane transporter activity (GO:0022803) 3.63TPCN2, SLC24A5, SLC24A4
metal ion transmembrane transporter activity (GO:0046873) 3.713TPCN2, SLC24A5, SLC24A4
inorganic cation transmembrane transporter activity (GO:0022890) 3.493TPCN2, SLC24A5, SLC24A4
active transmembrane transporter activity (GO:0022804) 3.853SLC45A2, SLC24A5, SLC24A4
ion antiporter activity (GO:0099516) 5.752SLC24A5, SLC24A4
monooxygenase activity (GO:0004497) 5.12TYRP1, TYR
signaling receptor activity (GO:0038023) 2.492MC1R, TPCN2
signal transducer activity (GO:0004871) 2.282MC1R, TPCN2
guanyl-nucleotide exchange factor activity (GO:0005085) 4.022HERC2, KITLG
molecular transducer activity (GO:0060089) 2.322MC1R, TPCN2
receptor activity (GO:0004872) 2.322MC1R, TPCN2
calcium, potassium:sodium antiporter activity (GO:0008273) 8.132SLC24A5, SLC24A4
ubiquitin-like protein ligase binding (GO:0044389) 4.152MC1R, HERC2
molecular function regulator (GO:0098772) 2.512HERC2, KITLG
oxidoreductase activity (GO:0016491) 3.122TYRP1, TYR
potassium ion binding (GO:0030955) 7.032SLC24A5, SLC24A4
sodium ion transmembrane transporter activity (GO:0015081) 4.832SLC24A5, SLC24A4
cation:cation antiporter activity (GO:0015491) 6.482SLC24A5, SLC24A4
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) 4.652TYRP1, TYR
transmembrane signaling receptor activity (GO:0004888) 2.572MC1R, TPCN2
calcium ion binding (GO:0005509) 3.172SLC24A5, SLC24A4
copper ion binding (GO:0005507) 5.712TYRP1, TYR
potassium ion antiporter activity (GO:0022821) 7.792SLC24A5, SLC24A4
protein homodimerization activity (GO:0042803) 3.162TYRP1, TYR
antiporter activity (GO:0015297) 5.332SLC24A5, SLC24A4
solute:cation antiporter activity (GO:0015298) 6.242SLC24A5, SLC24A4
protein dimerization activity (GO:0046983) 2.722TYRP1, TYR
ubiquitin protein ligase binding (GO:0031625) 4.172MC1R, HERC2
sodium ion binding (GO:0031402) 7.12SLC24A5, SLC24A4
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716) 8.642TYRP1, TYR
alkali metal ion binding (GO:0031420) 6.692SLC24A5, SLC24A4
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872SLC24A5, SLC24A4
calcium:cation antiporter activity (GO:0015368) 7.442SLC24A5, SLC24A4
receptor binding (GO:0005102) 2.432ASIP, KITLG
protein heterodimerization activity (GO:0046982) 3.642TYRP1, TYR
potassium ion transmembrane transporter activity (GO:0015079) 4.772SLC24A5, SLC24A4
transmembrane receptor activity (GO:0099600) 2.532MC1R, TPCN2

NET-GE enrichment

Term New enriched termICP valueGenes
calcium ion transmembrane transporter activity (GO:0015085) -4.890.007TPCN2, SLC24A5, ASIP, SLC24A4
antiporter activity (GO:0015297) -5.330.009ASIP, SLC24A5, SLC24A4
cation transmembrane transporter activity (GO:0008324) -3.320.013TPCN2, SLC24A5, HERC2, SLC24A4, ASIP, OCA2
cation (GO:0015491) -6.480.01ASIP, SLC24A5, SLC24A4
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716) -8.640.0TYRP1, TYR
solute (GO:0015298) -6.240.019ASIP, SLC24A5, SLC24A4
divalent inorganic cation transmembrane transporter activity (GO:0072509) -4.620.013TPCN2, SLC24A5, ASIP, SLC24A4
calcium, potassium (GO:0008273) -8.130.001ASIP, SLC24A5, SLC24A4
calcium (GO:0015368) -7.440.0ASIP, SLC24A5, SLC24A4
metal ion transmembrane transporter activity (GO:0046873) -3.710.02HERC2, TPCN2, SLC24A5, ASIP, SLC24A4
potassium ion antiporter activity (GO:0022821) -7.790.0ASIP, SLC24A5, SLC24A4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.2612TPCN2, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, ASIP, OCA2, SLC24A5
single-organism process (GO:0044699) 0.4812TPCN2, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, ASIP, OCA2, SLC24A5
single-organism cellular process (GO:0044763) 0.6511TPCN2, SLC45A2, KITLG, IRF4, MC1R, TYR, SLC24A4, TYRP1, ASIP, OCA2, SLC24A5
organic substance metabolic process (GO:0071704) 0.639TYR, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYRP1, ASIP, OCA2
biological regulation (GO:0065007) 0.399TPCN2, SLC24A5, KITLG, IRF4, MC1R, HERC2, SLC24A4, TYRP1, ASIP
metabolic process (GO:0008152) 0.589TYR, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYRP1, ASIP, OCA2
cellular metabolic process (GO:0044237) 0.699TYR, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYRP1, ASIP, OCA2
response to stimulus (GO:0050896) 1.228TPCN2, SLC45A2, IRF4, MC1R, HERC2, TYR, SLC24A4, SLC24A5
cellular aromatic compound metabolic process (GO:0006725) 1.38TYR, SLC45A2, IRF4, MC1R, HERC2, TYRP1, ASIP, OCA2
organic cyclic compound metabolic process (GO:1901360) 1.268TYR, SLC45A2, IRF4, MC1R, HERC2, TYRP1, ASIP, OCA2
organic substance biosynthetic process (GO:1901576) 1.347TYR, SLC45A2, IRF4, MC1R, TYRP1, ASIP, OCA2
single-organism metabolic process (GO:0044710) 1.637TYR, SLC45A2, KITLG, MC1R, TYRP1, ASIP, OCA2
transport (GO:0006810) 1.517TPCN2, SLC45A2, HERC2, SLC24A4, ASIP, OCA2, SLC24A5
regulation of cellular process (GO:0050794) 0.57TPCN2, SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
cellular biosynthetic process (GO:0044249) 1.377TYR, SLC45A2, IRF4, MC1R, TYRP1, ASIP, OCA2
biosynthetic process (GO:0009058) 1.327TYR, SLC45A2, IRF4, MC1R, TYRP1, ASIP, OCA2
aromatic compound biosynthetic process (GO:0019438) 1.77TYR, SLC45A2, IRF4, MC1R, TYRP1, ASIP, OCA2
localization (GO:0051179) 1.47TPCN2, SLC45A2, HERC2, SLC24A4, ASIP, OCA2, SLC24A5
establishment of localization (GO:0051234) 1.487TPCN2, SLC45A2, HERC2, SLC24A4, ASIP, OCA2, SLC24A5
organic cyclic compound biosynthetic process (GO:1901362) 1.667TYR, SLC45A2, IRF4, MC1R, TYRP1, ASIP, OCA2
regulation of biological process (GO:0050789) 0.457TPCN2, SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
pigmentation (GO:0043473) 5.96TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
single-organism biosynthetic process (GO:0044711) 2.86TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
pigment metabolic process (GO:0042440) 5.596TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
regulation of metabolic process (GO:0019222) 1.026SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
melanin metabolic process (GO:0006582) 7.096TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
primary metabolic process (GO:0044238) 0.696IRF4, KITLG, MC1R, HERC2, TYRP1, ASIP
secondary metabolite biosynthetic process (GO:0044550) 6.736TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
regulation of cellular biosynthetic process (GO:0031326) 1.386SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
regulation of cellular metabolic process (GO:0031323) 1.076SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
secondary metabolic process (GO:0019748) 5.886TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
regulation of biosynthetic process (GO:0009889) 1.376SLC24A5, IRF4, KITLG, MC1R, TYRP1, ASIP
organic hydroxy compound biosynthetic process (GO:1901617) 4.986TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
phenol-containing compound biosynthetic process (GO:0046189) 6.266TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
multicellular organismal process (GO:0032501) 1.456TYR, SLC45A2, MC1R, TPCN2, SLC24A4, ASIP
melanin biosynthetic process (GO:0042438) 7.166TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
phenol-containing compound metabolic process (GO:0018958) 5.336TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
pigment biosynthetic process (GO:0046148) 5.866TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
organic hydroxy compound metabolic process (GO:1901615) 3.846TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
developmental process (GO:0032502) 1.365TYR, OCA2, MC1R, SLC24A4, KITLG
positive regulation of metabolic process (GO:0009893) 1.745TYRP1, ASIP, MC1R, IRF4, KITLG
positive regulation of biosynthetic process (GO:0009891) 2.295TYRP1, ASIP, MC1R, IRF4, KITLG
positive regulation of cellular metabolic process (GO:0031325) 1.815TYRP1, MC1R, IRF4, ASIP, KITLG
positive regulation of cellular biosynthetic process (GO:0031328) 2.35TYRP1, MC1R, IRF4, ASIP, KITLG
single-organism developmental process (GO:0044767) 1.495TYR, OCA2, MC1R, SLC24A4, KITLG
nitrogen compound metabolic process (GO:0006807) 1.135TYR, MC1R, HERC2, ASIP, IRF4
signal transduction (GO:0007165) 1.285IRF4, MC1R, TPCN2, ASIP, KITLG
positive regulation of biological process (GO:0048518) 1.25TYRP1, MC1R, IRF4, ASIP, KITLG
negative regulation of biological process (GO:0048519) 1.335MC1R, IRF4, SLC24A5, TPCN2, KITLG
system process (GO:0003008) 2.35MC1R, TPCN2, SLC45A2, TYR, SLC24A4
positive regulation of cellular process (GO:0048522) 1.35TYRP1, ASIP, MC1R, IRF4, KITLG
nucleobase-containing compound metabolic process (GO:0006139) 1.354MC1R, HERC2, ASIP, IRF4
cellular macromolecule metabolic process (GO:0044260) 0.934MC1R, HERC2, IRF4, KITLG
regulation of macromolecule metabolic process (GO:0060255) 1.084ASIP, MC1R, IRF4, KITLG
cellular developmental process (GO:0048869) 1.824TYRP1, IRF4, OCA2, KITLG
anatomical structure development (GO:0048856) 1.584OCA2, MC1R, TYR, KITLG
sensory perception (GO:0007600) 2.934MC1R, SLC45A2, TYR, SLC24A4
cellular component organization (GO:0016043) 1.244TYRP1, ASIP, TPCN2, IRF4
macromolecule metabolic process (GO:0043170) 0.834MC1R, HERC2, IRF4, KITLG
single-organism transport (GO:0044765) 2.184ASIP, SLC45A2, TPCN2, OCA2
negative regulation of cellular process (GO:0048523) 1.414TPCN2, SLC24A5, IRF4, KITLG
cellular nitrogen compound metabolic process (GO:0034641) 1.224MC1R, HERC2, ASIP, IRF4
neurological system process (GO:0050877) 2.644MC1R, SLC45A2, TYR, SLC24A4
single-organism localization (GO:1902578) 2.094ASIP, SLC45A2, TPCN2, OCA2
regulation of molecular function (GO:0065009) 1.784ASIP, HERC2, IRF4, KITLG
regulation of biological quality (GO:0065008) 1.684TPCN2, SLC24A5, KITLG, SLC24A4
transmembrane transport (GO:0055085) 2.724TPCN2, SLC24A5, OCA2, SLC24A4
cellular component organization or biogenesis (GO:0071840) 1.224TYRP1, ASIP, TPCN2, IRF4
heterocycle metabolic process (GO:0046483) 1.314MC1R, HERC2, ASIP, IRF4
metal ion homeostasis (GO:0055065) 3.613TPCN2, SLC24A5, SLC24A4
regulation of primary metabolic process (GO:0080090) 1.083MC1R, IRF4, KITLG
ion homeostasis (GO:0050801) 3.423TPCN2, SLC24A5, SLC24A4
cell differentiation (GO:0030154) 2.143TYRP1, IRF4, OCA2
regulation of response to stimulus (GO:0048583) 1.543MC1R, IRF4, KITLG
regulation of secondary metabolic process (GO:0043455) 7.243TYRP1, ASIP, SLC24A5
homeostatic process (GO:0042592) 2.613TPCN2, SLC24A5, SLC24A4
calcium ion homeostasis (GO:0055074) 3.973TPCN2, SLC24A5, SLC24A4
regulation of signaling (GO:0023051) 1.723MC1R, IRF4, KITLG
inorganic ion homeostasis (GO:0098771) 3.433TPCN2, SLC24A5, SLC24A4
intracellular signal transduction (GO:0035556) 2.393MC1R, TPCN2, KITLG
regulation of cell communication (GO:0010646) 1.733MC1R, IRF4, KITLG
regulation of melanin biosynthetic process (GO:0048021) 7.783TYRP1, ASIP, SLC24A5
cellular calcium ion homeostasis (GO:0006874) 4.013TPCN2, SLC24A5, SLC24A4
cellular protein metabolic process (GO:0044267) 1.633HERC2, IRF4, KITLG
cellular divalent inorganic cation homeostasis (GO:0072503) 3.963TPCN2, SLC24A5, SLC24A4
establishment of localization in cell (GO:0051649) 2.473TPCN2, HERC2, ASIP
regulation of signal transduction (GO:0009966) 1.843MC1R, IRF4, KITLG
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463MC1R, IRF4, KITLG
divalent inorganic cation homeostasis (GO:0072507) 3.93TPCN2, SLC24A5, SLC24A4
cellular metal ion homeostasis (GO:0006875) 3.753TPCN2, SLC24A5, SLC24A4
inorganic cation transmembrane transport (GO:0098662) 3.553TPCN2, SLC24A5, SLC24A4
positive regulation of molecular function (GO:0044093) 2.233HERC2, IRF4, KITLG
organic substance transport (GO:0071702) 2.153SLC45A2, HERC2, OCA2
cellular homeostasis (GO:0019725) 3.233TPCN2, SLC24A5, SLC24A4
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353MC1R, IRF4, KITLG
cell proliferation (GO:0008283) 3.233TYR, OCA2, KITLG
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433MC1R, IRF4, KITLG
cation transport (GO:0006812) 3.113TPCN2, SLC24A5, SLC24A4
ion transport (GO:0006811) 2.663TPCN2, SLC24A5, SLC24A4
inorganic ion transmembrane transport (GO:0098660) 3.383TPCN2, SLC24A5, SLC24A4
calcium ion transport (GO:0006816) 4.333TPCN2, SLC24A5, SLC24A4
cellular ion homeostasis (GO:0006873) 3.573TPCN2, SLC24A5, SLC24A4
reproductive process (GO:0022414) 2.553HERC2, OCA2, KITLG
macromolecule modification (GO:0043412) 1.733HERC2, IRF4, KITLG
protein modification process (GO:0036211) 1.793HERC2, IRF4, KITLG
metal ion transport (GO:0030001) 3.363TPCN2, SLC24A5, SLC24A4
cellular protein modification process (GO:0006464) 1.793HERC2, IRF4, KITLG
regulation of multicellular organismal process (GO:0051239) 1.873MC1R, IRF4, KITLG
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293MC1R, IRF4, KITLG
cation homeostasis (GO:0055080) 3.463TPCN2, SLC24A5, SLC24A4
divalent metal ion transport (GO:0070838) 4.153TPCN2, SLC24A5, SLC24A4
cellular chemical homeostasis (GO:0055082) 3.43TPCN2, SLC24A5, SLC24A4
positive regulation of macromolecule metabolic process (GO:0010604) 1.813MC1R, IRF4, KITLG
organelle organization (GO:0006996) 2.023TYRP1, TPCN2, ASIP
nucleic acid metabolic process (GO:0090304) 1.463MC1R, HERC2, IRF4
single organism reproductive process (GO:0044702) 2.733HERC2, OCA2, KITLG
divalent inorganic cation transport (GO:0072511) 4.133TPCN2, SLC24A5, SLC24A4
response to external stimulus (GO:0009605) 2.553TYR, TPCN2, IRF4
ion transmembrane transport (GO:0034220) 3.083TPCN2, SLC24A5, SLC24A4
protein metabolic process (GO:0019538) 1.453HERC2, IRF4, KITLG
calcium ion transmembrane transport (GO:0070588) 4.673TPCN2, SLC24A5, SLC24A4
response to stress (GO:0006950) 1.83MC1R, HERC2, IRF4
cellular cation homeostasis (GO:0030003) 3.63TPCN2, SLC24A5, SLC24A4
chemical homeostasis (GO:0048878) 2.973TPCN2, SLC24A5, SLC24A4
regulation of secondary metabolite biosynthetic process (GO:1900376) 7.783TYRP1, ASIP, SLC24A5
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393MC1R, IRF4, KITLG
regulation of macromolecule biosynthetic process (GO:0010556) 1.433MC1R, IRF4, KITLG
cation transmembrane transport (GO:0098655) 3.433TPCN2, SLC24A5, SLC24A4
regulation of nitrogen compound metabolic process (GO:0051171) 1.363MC1R, IRF4, KITLG
regulation of phosphate metabolic process (GO:0019220) 2.352MC1R, KITLG
melanosome organization (GO:0032438) 6.592TYRP1, ASIP
positive regulation of response to stimulus (GO:0048584) 2.182MC1R, KITLG
positive regulation of secondary metabolite biosynthetic process (GO:1900378) 8.342TYRP1, ASIP
developmental pigmentation (GO:0048066) 6.962SLC45A2, OCA2
regulation of homeostatic process (GO:0032844) 3.652TPCN2, KITLG
small molecule metabolic process (GO:0044281) 2.382TYRP1, TYR
cell surface receptor signaling pathway (GO:0007166) 2.092IRF4, KITLG
cellular response to stimulus (GO:0051716) 1.972MC1R, HERC2
eye pigment metabolic process (GO:0042441) 8.342TYR, OCA2
positive regulation of signal transduction (GO:0009967) 2.52MC1R, KITLG
peptidyl-amino acid modification (GO:0018193) 2.982HERC2, IRF4
pigment metabolic process involved in developmental pigmentation (GO:0043324) 8.342TYR, OCA2
animal organ development (GO:0048513) 2.532TYR, KITLG
DNA repair (GO:0006281) 3.592MC1R, HERC2
pigment cell differentiation (GO:0050931) 6.642TYRP1, OCA2
visual perception (GO:0007601) 4.412TYR, SLC45A2
developmental process involved in reproduction (GO:0003006) 3.362OCA2, KITLG
negative regulation of homeostatic process (GO:0032845) 4.912TPCN2, KITLG
regulation of RNA biosynthetic process (GO:2001141) 1.552MC1R, IRF4
regulation of hemopoiesis (GO:1903706) 4.02IRF4, KITLG
response to organic substance (GO:0010033) 2.22TYR, TPCN2
oxidation-reduction process (GO:0055114) 2.912TYRP1, TYR
pigment metabolic process involved in pigmentation (GO:0043474) 8.342TYR, OCA2
single-multicellular organism process (GO:0044707) 1.782MC1R, ASIP
peptidyl-lysine modification (GO:0018205) 3.982HERC2, IRF4
response to nutrient levels (GO:0031667) 3.772TYR, TPCN2
vesicle organization (GO:0016050) 4.132TYRP1, ASIP
cellular response to stress (GO:0033554) 2.512MC1R, HERC2
positive regulation of gene expression (GO:0010628) 2.352MC1R, IRF4
response to vitamin D (GO:0033280) 6.262TYR, TPCN2
positive regulation of GTPase activity (GO:0043547) 3.282HERC2, KITLG
positive regulation of hydrolase activity (GO:0051345) 2.912HERC2, KITLG
regulation of developmental process (GO:0050793) 2.12IRF4, KITLG
regulation of immune system process (GO:0002682) 2.52IRF4, KITLG
negative regulation of immune system process (GO:0002683) 3.852IRF4, KITLG
positive regulation of catalytic activity (GO:0043085) 2.42HERC2, KITLG
lipid metabolic process (GO:0006629) 2.682TYRP1, KITLG
potassium ion transport (GO:0006813) 4.682SLC24A5, SLC24A4
regulation of catalytic activity (GO:0050790) 1.972HERC2, KITLG
sensory perception of light stimulus (GO:0050953) 4.42TYR, SLC45A2
sodium ion transport (GO:0006814) 4.752SLC24A5, SLC24A4
positive regulation of intracellular signal transduction (GO:1902533) 2.952MC1R, KITLG
regulation of intracellular signal transduction (GO:1902531) 2.312MC1R, KITLG
regulation of hydrolase activity (GO:0051336) 2.532HERC2, KITLG
regulation of transcription, DNA-templated (GO:0006355) 1.562MC1R, IRF4
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242MC1R, IRF4
positive regulation of phosphorus metabolic process (GO:0010562) 2.782MC1R, KITLG
response to radiation (GO:0009314) 3.692MC1R, TYR
positive regulation of signaling (GO:0023056) 2.412MC1R, KITLG
response to UV (GO:0009411) 4.882MC1R, TYR
response to light stimulus (GO:0009416) 4.082MC1R, TYR
positive regulation of cell communication (GO:0010647) 2.412MC1R, KITLG
regulation of GTPase activity (GO:0043087) 3.212HERC2, KITLG
response to organic cyclic compound (GO:0014070) 3.072TYR, TPCN2
positive regulation of melanin biosynthetic process (GO:0048023) 8.342TYRP1, ASIP
positive regulation of multicellular organismal process (GO:0051240) 2.492IRF4, KITLG
regulation of protein metabolic process (GO:0051246) 1.932IRF4, KITLG
positive regulation of protein metabolic process (GO:0051247) 2.432IRF4, KITLG
response to vitamin (GO:0033273) 5.112TYR, TPCN2
biological adhesion (GO:0022610) 2.812IRF4, KITLG
monovalent inorganic cation transport (GO:0015672) 3.742SLC24A5, SLC24A4
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562MC1R, IRF4
melanocyte differentiation (GO:0030318) 6.732TYRP1, OCA2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552MC1R, IRF4
eye pigment biosynthetic process (GO:0006726) 8.342TYR, OCA2
cellular response to DNA damage stimulus (GO:0006974) 3.172MC1R, HERC2
regulation of cell differentiation (GO:0045595) 2.422IRF4, KITLG
positive regulation of transcription, DNA-templated (GO:0045893) 2.562MC1R, IRF4
cellular lipid metabolic process (GO:0044255) 2.922TYRP1, KITLG
regulation of localization (GO:0032879) 1.942TPCN2, KITLG
organic acid metabolic process (GO:0006082) 3.012TYRP1, TYR
regulation of RNA metabolic process (GO:0051252) 1.522MC1R, IRF4
positive regulation of RNA metabolic process (GO:0051254) 2.512MC1R, IRF4
positive regulation of RNA biosynthetic process (GO:1902680) 2.542MC1R, IRF4
regulation of cytokine production (GO:0001817) 3.42MC1R, IRF4
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812MC1R, IRF4
response to extracellular stimulus (GO:0009991) 3.712TYR, TPCN2
pigment granule organization (GO:0048753) 6.552TYRP1, ASIP
response to lipid (GO:0033993) 3.112TPCN2, TYR
sodium ion transmembrane transport (GO:0035725) 5.232SLC24A5, SLC24A4
hematopoietic or lymphoid organ development (GO:0048534) 4.492TYR, KITLG
regulation of gene expression (GO:0010468) 1.372MC1R, IRF4
positive regulation of phosphate metabolic process (GO:0045937) 2.782MC1R, KITLG
response to nutrient (GO:0007584) 4.492TPCN2, TYR
regulation of phosphorus metabolic process (GO:0051174) 2.352MC1R, KITLG
cell adhesion (GO:0007155) 2.822IRF4, KITLG
response to chemical (GO:0042221) 1.982TPCN2, TYR
cellular localization (GO:0051641) 2.322ASIP, HERC2
response to oxygen-containing compound (GO:1901700) 2.572TPCN2, TYR
response to abiotic stimulus (GO:0009628) 2.82MC1R, TYR
regulation of leukocyte differentiation (GO:1902105) 4.262IRF4, KITLG
regulation of multicellular organismal development (GO:2000026) 2.312IRF4, KITLG
DNA metabolic process (GO:0006259) 3.092MC1R, HERC2

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of secondary metabolic process (GO:0043455) -7.240.008ASIP, SLC24A5
single-organism biosynthetic process (GO:0044711) -2.80.023TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
pigment metabolic process (GO:0042440) -5.590.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
eye pigment metabolic process (GO:0042441) -8.340.001TYR, OCA2
pigment metabolic process involved in pigmentation (GO:0043474) -8.340.001TYR, OCA2
regulation of secondary metabolite biosynthetic process (GO:1900376) -7.780.006ASIP, SLC24A5
negative regulation of secondary metabolite biosynthetic process (GO:1900377) NEW8.630.002ASIP, SLC24A5
melanosome organization (GO:0032438) -6.590.048TYRP1, ASIP
secondary metabolic process (GO:0019748) -5.880.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
regulation of melanin biosynthetic process (GO:0048021) -7.780.006ASIP, SLC24A5
melanin metabolic process (GO:0006582) -7.090.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
pigment biosynthetic process (GO:0046148) -5.860.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
phenol-containing compound biosynthetic process (GO:0046189) -6.260.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
pigment metabolic process involved in developmental pigmentation (GO:0043324) -8.340.001TYR, OCA2
melanin biosynthetic process (GO:0042438) -7.160.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
secondary metabolite biosynthetic process (GO:0044550) -6.730.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
phenol-containing compound metabolic process (GO:0018958) -5.330.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
eye pigment biosynthetic process (GO:0006726) -8.340.001TYR, OCA2
organic hydroxy compound biosynthetic process (GO:1901617) -4.980.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
negative regulation of melanin biosynthetic process (GO:0048022) NEW8.630.002ASIP, SLC24A5
organic hydroxy compound metabolic process (GO:1901615) -3.840.0TYR, SLC45A2, MC1R, TYRP1, ASIP, OCA2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.6811TPCN2, SLC24A5, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, OCA2, SLC45A2
cell part (GO:0044464) 0.1111TPCN2, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
intracellular part (GO:0044424) 0.2810TPCN2, SLC45A2, KITLG, IRF4, HERC2, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
membrane part (GO:0044425) 0.959TPCN2, SLC45A2, KITLG, MC1R, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
integral component of membrane (GO:0016021) 1.149TPCN2, SLC45A2, KITLG, MC1R, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
intrinsic component of membrane (GO:0031224) 1.139TPCN2, SLC45A2, KITLG, MC1R, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
intracellular organelle part (GO:0044446) 0.818TPCN2, SLC45A2, IRF4, HERC2, TYR, TYRP1, OCA2, SLC24A5
cytoplasmic part (GO:0044444) 0.828TPCN2, SLC45A2, IRF4, HERC2, TYR, TYRP1, OCA2, SLC24A5
organelle part (GO:0044422) 0.798TPCN2, SLC45A2, IRF4, HERC2, TYR, TYRP1, OCA2, SLC24A5
intracellular organelle (GO:0043229) 0.517TPCN2, SLC24A5, IRF4, KITLG, HERC2, TYR, TYRP1
organelle (GO:0043226) 0.47TPCN2, SLC24A5, IRF4, KITLG, HERC2, TYR, TYRP1
organelle membrane (GO:0031090) 1.977TPCN2, SLC45A2, HERC2, TYR, TYRP1, OCA2, SLC24A5
cytoplasm (GO:0005737) 1.016TYR, IRF4, KITLG, HERC2, SLC24A4, OCA2
bounding membrane of organelle (GO:0098588) 2.396TPCN2, SLC45A2, TYR, TYRP1, OCA2, SLC24A5
membrane-bounded organelle (GO:0043227) 0.476TPCN2, SLC24A5, IRF4, HERC2, TYR, TYRP1
intracellular membrane-bounded organelle (GO:0043231) 0.66TPCN2, SLC24A5, IRF4, HERC2, TYR, TYRP1
whole membrane (GO:0098805) 2.855TYRP1, TPCN2, SLC45A2, TYR, OCA2
cytoplasmic vesicle part (GO:0044433) 3.414TYRP1, TYR, SLC45A2, OCA2
cytoplasmic vesicle membrane (GO:0030659) 3.674TYRP1, TYR, SLC45A2, OCA2
melanosome membrane (GO:0033162) 7.614TYRP1, TYR, SLC45A2, OCA2
vesicle membrane (GO:0012506) 3.634TYRP1, TYR, SLC45A2, OCA2
plasma membrane (GO:0005886) 1.394MC1R, TPCN2, SLC24A4, KITLG
melanosome (GO:0042470) 5.223TYRP1, TYR, SLC24A5
endosomal part (GO:0044440) 3.733TYRP1, TPCN2, OCA2
vesicle (GO:0031982) 1.643TYRP1, TYR, SLC24A5
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.123TYRP1, TYR, SLC24A5
cytoplasmic vesicle (GO:0031410) 2.873TYRP1, TYR, SLC24A5
nucleus (GO:0005634) 1.073TYR, HERC2, IRF4
pigment granule (GO:0048770) 5.223TYRP1, TYR, SLC24A5
vacuolar membrane (GO:0005774) 3.453TYRP1, TPCN2, OCA2
vacuolar part (GO:0044437) 3.263TYRP1, TPCN2, OCA2
intracellular vesicle (GO:0097708) 2.863TYRP1, TYR, SLC24A5
intrinsic component of plasma membrane (GO:0031226) 2.533MC1R, SLC24A5, SLC24A4
integral component of plasma membrane (GO:0005887) 2.573MC1R, SLC24A5, SLC24A4
membrane-bounded vesicle (GO:0031988) 1.713TYRP1, TYR, SLC24A5
plasma membrane part (GO:0044459) 1.953MC1R, SLC24A5, SLC24A4
endosome membrane (GO:0010008) 3.833TYRP1, TPCN2, OCA2
cytoskeleton (GO:0005856) 2.552HERC2, KITLG
lysosome (GO:0005764) 3.892TYR, TPCN2
lytic vacuole (GO:0000323) 3.892TYR, TPCN2
extracellular space (GO:0005615) 2.632ASIP, KITLG
intracellular non-membrane-bounded organelle (GO:0043232) 1.762HERC2, KITLG
vacuole (GO:0005773) 2.922TYR, TPCN2
cytosol (GO:0005829) 1.682TYR, IRF4
nucleoplasm (GO:0005654) 1.892HERC2, IRF4
lysosomal membrane (GO:0005765) 4.192TPCN2, OCA2
Golgi apparatus part (GO:0044431) 3.02TYR, SLC24A5
non-membrane-bounded organelle (GO:0043228) 1.762HERC2, KITLG
nuclear part (GO:0044428) 1.552HERC2, IRF4
extracellular region part (GO:0044421) 1.572ASIP, KITLG
lytic vacuole membrane (GO:0098852) 4.192TPCN2, OCA2
extracellular region (GO:0005576) 2.182ASIP, KITLG

NET-GE enrichment

Term New enriched termICP valueGenes
melanosome (GO:0042470) -5.220.002TYRP1, TYR, SLC24A5, ASIP
membrane (GO:0016020) -0.680.013TPCN2, SLC45A2, KITLG, IRF4, MC1R, HERC2, TYR, SLC24A4, TYRP1, OCA2, SLC24A5
pigment granule (GO:0048770) -5.220.002TYRP1, TYR, SLC24A5, ASIP
cytoplasmic vesicle part (GO:0044433) -3.410.024TYRP1, TYR, SLC45A2, OCA2
cytoplasmic vesicle membrane (GO:0030659) -3.670.007TYRP1, TYR, SLC45A2, OCA2
vesicle membrane (GO:0012506) -3.630.008TYRP1, TYR, SLC45A2, OCA2
melanosome membrane (GO:0033162) -7.610.0TYRP1, TYR, SLC45A2, OCA2