Disease table of UV-SENSITIVE SYNDROME OMIM ID: PS600630

Gene-disease associations table

GeneAssociated with UV-SENSITIVE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ERCC8ClinVar, OMIM, HUMSAVARHGNC link5q12.12216400, PS600630
UVSSAClinVar, OMIM, HUMSAVARHGNC link4p16.31PS600630
ERCC6ClinVar, OMIMHGNC link10q11.236211980, PS603075, 133540, PS600630, PS214150, 278800

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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ERCC8UVSSAYes1DDB1
ERCC8ERCC6Yes15HMGN1, VCP, COPS4, CUL4B, SSBP1, COPS3, COPS6, TP53, POLR2A, MDM2, CUL4A, PCNA, XAB2, OGG1, DDB1
UVSSAERCC6No5USP7, ERCC2, ERCC3, DDB1, ERCC8

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
ERCC8UVSSAYesbinding3ERCC3, DDB1, ERCC2
ERCC8ERCC6Yesbinding25ERCC5, ERCC2, XAB2, POLR2I, CUL4A, POLR2F, POLR2H, POLR2G, GTF2H1, TCEA1, POLR2C, DDB1, POLR2E, POLR2D, CCNH, ERCC1, POLR2L, ERCC3, MNAT1, POLR2B, POLR2K, ERCC4, POLR2A, POLR2J, GTF2H3
UVSSAERCC6No-4ERCC3, ERCC2, ERCC8, DDB1

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
Gene1Gene2Direct interactionMore information
ERCC6ERCC8yes, they interactERCC8 interacts with ERCC6 and KIAA1530/UVSSA.�[Uniprot]
ERCC6UVSSANo
ERCC8UVSSAyes, they interactERCC8 interacts with ERCC6 and KIAA1530/UVSSA.�[Uniprot]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Nucleotide excision repairhsa034207.152ERCC6, ERCC8

NET-GE enrichment

Term New enriched termICP valueGenes
Replication and repairNEW5.410.011ERCC6, ERCC8
Nucleotide excision repair (hsa03420) -7.150.001ERCC6, ERCC8
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Transcription-coupled NER (TC-NER)R-HSA-739377.492ERCC6, ERCC8
DNA RepairR-HSA-738945.82ERCC6, ERCC8
Nucleotide Excision RepairR-HSA-738857.342ERCC6, ERCC8
Dual incision reaction in TC-NERR-HSA-1103048.122ERCC6, ERCC8
Formation of transcription-coupled NER (TC-NER) repair complexR-HSA-1103028.122ERCC6, ERCC8

NET-GE enrichment

Term New enriched termICP valueGenes
Transcription-coupled NER (TC-NER) (R-HSA-73937) -7.490.0ERCC6, ERCC8
DNA Repair (R-HSA-73894) -5.80.004ERCC6, ERCC8
Nucleotide Excision Repair (R-HSA-73885) -7.340.001ERCC6, ERCC8
Dual incision reaction in TC-NER (R-HSA-110304) -8.120.0ERCC6, ERCC8
Formation of transcription-coupled NER (TC-NER) repair complex (R-HSA-110302) -8.120.0ERCC6, ERCC8
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex binding (GO:0032403) 3.093UVSSA, ERCC6, ERCC8
macromolecular complex binding (GO:0044877) 2.613UVSSA, ERCC6, ERCC8
binding (GO:0005488) 0.183UVSSA, ERCC6, ERCC8
protein binding (GO:0005515) 0.463UVSSA, ERCC6, ERCC8
hydrolase activity (GO:0016787) 1.92ERCC6, ERCC8
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032ERCC6, ERCC8
ATPase activity, coupled (GO:0042623) 3.972ERCC6, ERCC8
DNA-dependent ATPase activity (GO:0008094) 5.312ERCC6, ERCC8
nucleoside-triphosphatase activity (GO:0017111) 3.092ERCC6, ERCC8
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032ERCC6, ERCC8
helicase activity (GO:0004386) 4.692ERCC6, ERCC8
catalytic activity (GO:0003824) 1.052ERCC6, ERCC8
ATPase activity (GO:0016887) 3.652ERCC6, ERCC8
DNA helicase activity (GO:0003678) 5.732ERCC6, ERCC8
pyrophosphatase activity (GO:0016462) 3.042ERCC6, ERCC8

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex binding (GO:0032403) -3.090.004UVSSA, ERCC6, ERCC8
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
response to abiotic stimulus (GO:0009628) 2.83UVSSA, ERCC6, ERCC8
response to radiation (GO:0009314) 3.693UVSSA, ERCC6, ERCC8
nucleic acid metabolic process (GO:0090304) 1.463UVSSA, ERCC6, ERCC8
cellular nitrogen compound metabolic process (GO:0034641) 1.223UVSSA, ERCC6, ERCC8
response to UV (GO:0009411) 4.883UVSSA, ERCC6, ERCC8
response to light stimulus (GO:0009416) 4.083UVSSA, ERCC6, ERCC8
organic cyclic compound metabolic process (GO:1901360) 1.263UVSSA, ERCC6, ERCC8
nucleobase-containing compound metabolic process (GO:0006139) 1.353UVSSA, ERCC6, ERCC8
cellular response to stimulus (GO:0051716) 1.973UVSSA, ERCC6, ERCC8
cellular macromolecule metabolic process (GO:0044260) 0.933UVSSA, ERCC6, ERCC8
organic substance metabolic process (GO:0071704) 0.633UVSSA, ERCC6, ERCC8
transcription-coupled nucleotide-excision repair (GO:0006283) 5.443UVSSA, ERCC6, ERCC8
DNA repair (GO:0006281) 3.593UVSSA, ERCC6, ERCC8
cellular process (GO:0009987) 0.263UVSSA, ERCC6, ERCC8
cellular aromatic compound metabolic process (GO:0006725) 1.33UVSSA, ERCC6, ERCC8
nucleotide-excision repair (GO:0006289) 5.053UVSSA, ERCC6, ERCC8
cellular response to DNA damage stimulus (GO:0006974) 3.173UVSSA, ERCC6, ERCC8
response to stress (GO:0006950) 1.83UVSSA, ERCC6, ERCC8
metabolic process (GO:0008152) 0.583UVSSA, ERCC6, ERCC8
heterocycle metabolic process (GO:0046483) 1.313UVSSA, ERCC6, ERCC8
primary metabolic process (GO:0044238) 0.693UVSSA, ERCC6, ERCC8
response to stimulus (GO:0050896) 1.223UVSSA, ERCC6, ERCC8
cellular metabolic process (GO:0044237) 0.693UVSSA, ERCC6, ERCC8
macromolecule metabolic process (GO:0043170) 0.833UVSSA, ERCC6, ERCC8
nitrogen compound metabolic process (GO:0006807) 1.133UVSSA, ERCC6, ERCC8
cellular response to stress (GO:0033554) 2.513UVSSA, ERCC6, ERCC8
DNA metabolic process (GO:0006259) 3.093UVSSA, ERCC6, ERCC8
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432ERCC6, ERCC8
positive regulation of metabolic process (GO:0009893) 1.742ERCC6, ERCC8
regulation of metabolic process (GO:0019222) 1.022ERCC6, ERCC8
positive regulation of cellular metabolic process (GO:0031325) 1.812ERCC6, ERCC8
positive regulation of response to stimulus (GO:0048584) 2.182ERCC6, ERCC8
regulation of response to stimulus (GO:0048583) 1.542ERCC6, ERCC8
regulation of biological process (GO:0050789) 0.452ERCC6, ERCC8
regulation of primary metabolic process (GO:0080090) 1.082ERCC6, ERCC8
cellular protein metabolic process (GO:0044267) 1.632UVSSA, ERCC8
response to ionizing radiation (GO:0010212) 4.742ERCC6, ERCC8
positive regulation of macromolecule metabolic process (GO:0010604) 1.812ERCC6, ERCC8
protein modification by small protein conjugation or removal (GO:0070647) 2.952UVSSA, ERCC8
protein modification by small protein conjugation (GO:0032446) 3.12UVSSA, ERCC8
biological regulation (GO:0065007) 0.392ERCC6, ERCC8
positive regulation of biological process (GO:0048518) 1.22ERCC6, ERCC8
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352ERCC6, ERCC8
response to X-ray (GO:0010165) 6.332ERCC6, ERCC8
regulation of macromolecule metabolic process (GO:0060255) 1.082ERCC6, ERCC8
regulation of cellular metabolic process (GO:0031323) 1.072ERCC6, ERCC8
cellular protein modification process (GO:0006464) 1.792UVSSA, ERCC8
regulation of cellular process (GO:0050794) 0.52ERCC6, ERCC8
macromolecule modification (GO:0043412) 1.732UVSSA, ERCC8
protein modification process (GO:0036211) 1.792UVSSA, ERCC8
regulation of nitrogen compound metabolic process (GO:0051171) 1.362ERCC6, ERCC8
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292ERCC6, ERCC8
response to oxidative stress (GO:0006979) 3.92ERCC6, ERCC8
protein metabolic process (GO:0019538) 1.452UVSSA, ERCC8
regulation of response to stress (GO:0080134) 2.532ERCC6, ERCC8
regulation of cellular response to stress (GO:0080135) 3.42ERCC6, ERCC8
protein ubiquitination (GO:0016567) 3.282UVSSA, ERCC8
positive regulation of cellular process (GO:0048522) 1.32ERCC6, ERCC8

NET-GE enrichment

Term New enriched termICP valueGenes
response to X-ray (GO:0010165) -6.330.001ERCC6, ERCC8
response to abiotic stimulus (GO:0009628) -2.80.035UVSSA, ERCC6, ERCC8
response to ionizing radiation (GO:0010212) -4.740.035ERCC6, ERCC8
transcription-coupled nucleotide-excision repair (GO:0006283) -5.440.0UVSSA, ERCC6, ERCC8
DNA repair (GO:0006281) -3.590.02UVSSA, ERCC6, ERCC8
response to radiation (GO:0009314) -3.690.003UVSSA, ERCC6, ERCC8
nucleotide-excision repair (GO:0006289) -5.050.0UVSSA, ERCC6, ERCC8
cellular response to DNA damage stimulus (GO:0006974) -3.170.012UVSSA, ERCC6, ERCC8
response to UV (GO:0009411) -4.880.0UVSSA, ERCC6, ERCC8
response to light stimulus (GO:0009416) -4.080.001UVSSA, ERCC6, ERCC8
DNA metabolic process (GO:0006259) -3.090.019UVSSA, ERCC6, ERCC8
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle part (GO:0044446) 0.813UVSSA, ERCC6, ERCC8
cell part (GO:0044464) 0.113UVSSA, ERCC6, ERCC8
nucleoplasm (GO:0005654) 1.893UVSSA, ERCC6, ERCC8
intracellular organelle (GO:0043229) 0.513UVSSA, ERCC6, ERCC8
nuclear part (GO:0044428) 1.553UVSSA, ERCC6, ERCC8
intracellular part (GO:0044424) 0.283UVSSA, ERCC6, ERCC8
organelle (GO:0043226) 0.43UVSSA, ERCC6, ERCC8
organelle part (GO:0044422) 0.793UVSSA, ERCC6, ERCC8
protein complex (GO:0043234) 1.512ERCC6, ERCC8
macromolecular complex (GO:0032991) 1.352ERCC6, ERCC8
intracellular membrane-bounded organelle (GO:0043231) 0.62ERCC6, ERCC8
intracellular non-membrane-bounded organelle (GO:0043232) 1.762UVSSA, ERCC6
nucleus (GO:0005634) 1.072ERCC6, ERCC8
non-membrane-bounded organelle (GO:0043228) 1.762UVSSA, ERCC6
membrane-bounded organelle (GO:0043227) 0.472ERCC6, ERCC8

NET-GE enrichment

Term New enriched termICP valueGenes
nuclear matrix (GO:0016363) NEW5.220.024ERCC6, ERCC8