Disease table of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A OMIM ID: 278700

Gene-disease associations table

GeneAssociated with XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
XPCClinVarHGNC link3p25.12278720, 278700
XPAClinVar, OMIM, HUMSAVARHGNC link9q22.331278700

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
XPCYES3KIN, RNF111, CASP20
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
XPCYES6SP1, TP63, CREB1, TP53, BRCA1, HIF1A0
XPAYES1HMGA10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
XPCXPAYes9ATM, ATR, GTF2H1, HMGB1, RPA1, RPA4, DDB1, RPA2, DDB2

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
XPCXPAYesbinding25ERCC5, ERCC2, RPA1, RPA3, POLD1, ATR, RAD23A, DDB1, PMS1, RAD23B, CCNH, REV3L, ERCC1, RPA2, PMS2, GTF2H1, ERCC3, DDB2, MSH3, ERCC4, HIF1A, MNAT1, MSH2, GTF2H3, MLH1

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
XPAXPCyes, complexThe XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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

NET-GE enrichment

Term New enriched termICP valueGenes
Nucleotide excision repair (hsa03420) -7.150.0XPC, XPA
Replication and repairNEW5.410.002XPC, XPA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
DNA RepairR-HSA-738945.82XPC, XPA
Nucleotide Excision RepairR-HSA-738857.342XPC, XPA
Global Genomic NER (GG-NER)R-HSA-1099707.892XPC, XPA
Dual incision reaction in GG-NERR-HSA-739418.592XPC, XPA
Formation of incision complex in GG-NERR-HSA-739358.592XPC, XPA

NET-GE enrichment

Term New enriched termICP valueGenes
Global Genomic NER (GG-NER) (R-HSA-109970) -7.890.0XPC, XPA
Formation of incision complex in GG-NER (R-HSA-73935) -8.590.0XPC, XPA
Dual incision reaction in GG-NER (R-HSA-73941) -8.590.0XPC, XPA
DNA Repair (R-HSA-73894) -5.80.007XPC, XPA
Nucleotide Excision Repair (R-HSA-73885) -7.340.001XPC, XPA
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
nucleic acid binding (GO:0003676) 1.442XPC, XPA
organic cyclic compound binding (GO:0097159) 1.052XPC, XPA
damaged DNA binding (GO:0003684) 5.582XPC, XPA
binding (GO:0005488) 0.182XPC, XPA
protein binding (GO:0005515) 0.462XPC, XPA
DNA binding (GO:0003677) 1.922XPC, XPA
heterocyclic compound binding (GO:1901363) 1.062XPC, XPA

NET-GE enrichment

Term New enriched termICP valueGenes
heteroduplex DNA loop binding (GO:0000404) NEW9.050.008XPC, XPA
damaged DNA binding (GO:0003684) -5.580.001XPC, XPA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
DNA conformation change (GO:0071103) 4.92XPC, XPA
nucleotide-excision repair, preincision complex assembly (GO:0006294) 6.362XPC, XPA
cellular component assembly (GO:0022607) 2.142XPC, XPA
cellular response to light stimulus (GO:0071482) 5.222XPC, XPA
macromolecular complex subunit organization (GO:0043933) 2.142XPC, XPA
response to radiation (GO:0009314) 3.692XPC, XPA
cellular macromolecular complex assembly (GO:0034622) 3.182XPC, XPA
nitrogen compound metabolic process (GO:0006807) 1.132XPC, XPA
nucleic acid metabolic process (GO:0090304) 1.462XPC, XPA
cellular nitrogen compound metabolic process (GO:0034641) 1.222XPC, XPA
UV-damage excision repair (GO:0070914) 7.432XPC, XPA
response to light stimulus (GO:0009416) 4.082XPC, XPA
response to mechanical stimulus (GO:0009612) 4.412XPC, XPA
global genome nucleotide-excision repair (GO:0070911) 6.262XPC, XPA
cellular response to UV (GO:0034644) 5.522XPC, XPA
macromolecule metabolic process (GO:0043170) 0.832XPC, XPA
regulation of biological process (GO:0050789) 0.452XPC, XPA
organic cyclic compound metabolic process (GO:1901360) 1.262XPC, XPA
protein-DNA complex subunit organization (GO:0071824) 4.452XPC, XPA
nucleobase-containing compound metabolic process (GO:0006139) 1.352XPC, XPA
cellular response to stimulus (GO:0051716) 1.972XPC, XPA
cellular response to radiation (GO:0071478) 4.812XPC, XPA
cellular macromolecule metabolic process (GO:0044260) 0.932XPC, XPA
cellular component organization (GO:0016043) 1.242XPC, XPA
macromolecular complex assembly (GO:0065003) 2.552XPC, XPA
organic substance metabolic process (GO:0071704) 0.632XPC, XPA
biological regulation (GO:0065007) 0.392XPC, XPA
cellular component organization or biogenesis (GO:0071840) 1.222XPC, XPA
protein-DNA complex assembly (GO:0065004) 4.62XPC, XPA
cellular response to abiotic stimulus (GO:0071214) 4.152XPC, XPA
DNA geometric change (GO:0032392) 5.312XPC, XPA
DNA repair (GO:0006281) 3.592XPC, XPA
DNA duplex unwinding (GO:0032508) 5.372XPC, XPA
cellular process (GO:0009987) 0.262XPC, XPA
cellular aromatic compound metabolic process (GO:0006725) 1.32XPC, XPA
nucleotide-excision repair (GO:0006289) 5.052XPC, XPA
cellular response to DNA damage stimulus (GO:0006974) 3.172XPC, XPA
response to stress (GO:0006950) 1.82XPC, XPA
metabolic process (GO:0008152) 0.582XPC, XPA
response to chemical (GO:0042221) 1.982XPC, XPA
regulation of cellular process (GO:0050794) 0.52XPC, XPA
primary metabolic process (GO:0044238) 0.692XPC, XPA
heterocycle metabolic process (GO:0046483) 1.312XPC, XPA
organelle organization (GO:0006996) 2.022XPC, XPA
response to abiotic stimulus (GO:0009628) 2.82XPC, XPA
response to auditory stimulus (GO:0010996) 7.162XPC, XPA
chromosome organization (GO:0051276) 3.792XPC, XPA
response to external stimulus (GO:0009605) 2.552XPC, XPA
response to stimulus (GO:0050896) 1.222XPC, XPA
nucleotide-excision repair, DNA duplex unwinding (GO:0000717) 6.642XPC, XPA
cellular metabolic process (GO:0044237) 0.692XPC, XPA
nucleotide-excision repair, DNA damage recognition (GO:0000715) 6.592XPC, XPA
response to UV (GO:0009411) 4.882XPC, XPA
cellular response to stress (GO:0033554) 2.512XPC, XPA
DNA metabolic process (GO:0006259) 3.092XPC, XPA

NET-GE enrichment

Term New enriched termICP valueGenes
DNA excision (GO:0044349) NEW9.730.0XPC, XPA
nucleotide-excision repair, DNA damage removal (GO:0000718) NEW9.730.0XPC, XPA
DNA repair (GO:0006281) -3.590.044XPC, XPA
response to radiation (GO:0009314) -3.690.048XPC, XPA
nucleotide-excision repair (GO:0006289) -5.050.002XPC, XPA
response to UV (GO:0009411) -4.880.023XPC, XPA
response to light stimulus (GO:0009416) -4.080.026XPC, XPA
DNA catabolic process (GO:0006308) NEW6.360.003XPC, XPA
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012XPC, XPA
protein complex (GO:0043234) 1.512XPC, XPA
macromolecular complex (GO:0032991) 1.352XPC, XPA
intracellular membrane-bounded organelle (GO:0043231) 0.62XPC, XPA
DNA repair complex (GO:1990391) 6.142XPC, XPA
nucleus (GO:0005634) 1.072XPC, XPA
cell part (GO:0044464) 0.112XPC, XPA
intracellular organelle part (GO:0044446) 0.812XPC, XPA
extracellular region part (GO:0044421) 1.572XPC, XPA
nucleoplasm (GO:0005654) 1.892XPC, XPA
intracellular organelle (GO:0043229) 0.512XPC, XPA
nuclear part (GO:0044428) 1.552XPC, XPA
nucleotide-excision repair complex (GO:0000109) 7.612XPC, XPA
intracellular part (GO:0044424) 0.282XPC, XPA
membrane-bounded organelle (GO:0043227) 0.472XPC, XPA
organelle (GO:0043226) 0.42XPC, XPA
organelle part (GO:0044422) 0.792XPC, XPA