DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0019569)

Number of enzymes:	2
Number of disease:	1
Number of reactomes:	11
Number of reactions:	29

Search results (Disease ID: MONDO:0019569)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0019569	ERCC6	Q03468	3.6.4.-	R-HSA-6781827 R-HSA-6781827 Reactome Name: Transcription-Coupled Nucleotide Excision Repair (TC-NER) See in Reactome R-HSA-427389 R-HSA-427389 Reactome Name: ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression See in Reactome R-HSA-6781823 R-HSA-6781823 Reactome Name: Formation of TC-NER Pre-Incision Complex See in Reactome R-HSA-6782135 R-HSA-6782135 Reactome Name: Dual incision in TC-NER See in Reactome R-HSA-5250924 R-HSA-5250924 Reactome Name: B-WICH complex positively regulates rRNA expression See in Reactome R-HSA-6782210 R-HSA-6782210 Reactome Name: Gap-filling DNA repair synthesis and ligation in TC-NER See in Reactome R-HSA-73762 R-HSA-73762 Reactome Name: RNA Polymerase I Transcription Initiation See in Reactome	R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome R-HSA-5696398 R-HSA-5696398 Reactome Name: Nucleotide Excision Repair See in Reactome R-HSA-5250913 R-HSA-5250913 Reactome Name: Positive epigenetic regulation of rRNA expression See in Reactome R-HSA-212165 R-HSA-212165 Reactome Name: Epigenetic regulation of gene expression See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair See in Reactome R-HSA-73864 R-HSA-73864 Reactome Name: RNA Polymerase I Transcription See in Reactome R-HSA-73854 R-HSA-73854 Reactome Name: RNA Polymerase I Promoter Clearance See in Reactome	Gene expression (Transcription) DNA Repair	R-HSA-427336 ( R-HSA-427389 ) R-HSA-427336 Reaction Name: TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9. See in Reactome R-HSA-427404 ( R-HSA-427389 ) R-HSA-427404 Reaction Name: Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene See in Reactome R-HSA-5250930 ( R-HSA-5250924 ) R-HSA-5250930 Reaction Name: B-WICH recruits histone acetyltransferases See in Reactome R-HSA-5250938 ( R-HSA-5250924 ) R-HSA-5250938 Reaction Name: B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9 See in Reactome R-HSA-5250947 ( R-HSA-5250924 ) R-HSA-5250947 Reaction Name: B-WICH complex binds rDNA promoter See in Reactome R-HSA-6781833 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6781833 Reaction Name: ERCC8 (CSA) binds stalled RNA Pol II See in Reactome R-HSA-6781840 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6781840 Reaction Name: ERCC6 binds stalled RNA Pol II See in Reactome R-HSA-6781867 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6781867 Reaction Name: ERCC8:DDB1:CUL4:RBX1 ubiquitinates ERCC6 and RNA Pol II See in Reactome R-HSA-6782004 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6782004 Reaction Name: Assembly of the pre-incision complex in TC-NER See in Reactome R-HSA-6782069 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6782069 Reaction Name: UVSSA:USP7 deubiquitinates ERCC6 See in Reactome R-HSA-6782131 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782131 Reaction Name: ERCC2-facilitated RNA Pol II backtracking in TC-NER See in Reactome R-HSA-6782138 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782138 Reaction Name: ERCC5 and RPA bind TC-NER site See in Reactome R-HSA-6782141 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782141 Reaction Name: Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER See in Reactome R-HSA-6782204 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782204 Reaction Name: 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER See in Reactome R-HSA-6782208 ( R-HSA-6781827; R-HSA-6782210 ) R-HSA-6782208 Reaction Name: Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER See in Reactome R-HSA-6782211 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782211 Reaction Name: DNA polymerases delta, epsilon or kappa bind the TC-NER site See in Reactome R-HSA-6782224 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-6782224 Reaction Name: 3' incision by ERCC5 (XPG) in TC-NER See in Reactome R-HSA-6782227 ( R-HSA-6781827; R-HSA-6782210 ) R-HSA-6782227 Reaction Name: Ligation of newly synthesized repair patch to incised DNA in TC-NER See in Reactome R-HSA-6782234 ( R-HSA-6781827 ) R-HSA-6782234 Reaction Name: Recovery of RNA synthesis after TC-NER See in Reactome R-HSA-73739 ( R-HSA-73762 ) R-HSA-73739 Reaction Name: Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter See in Reactome R-HSA-9684118 ( R-HSA-6781827; R-HSA-6782135 ) R-HSA-9684118 Reaction Name: ERCC3-facilitated RNA Pol II backtracking in TC-NER See in Reactome
MONDO:0019569	ERCC4	Q92889	3.1.-.-	R-HSA-5696400 R-HSA-5696400 Reactome Name: Dual Incision in GG-NER See in Reactome R-HSA-5685938 R-HSA-5685938 Reactome Name: HDR through Single Strand Annealing (SSA) See in Reactome R-HSA-6783310 R-HSA-6783310 Reactome Name: Fanconi Anemia Pathway See in Reactome R-HSA-5696395 R-HSA-5696395 Reactome Name: Formation of Incision Complex in GG-NER See in Reactome R-HSA-6782135 R-HSA-6782135 Reactome Name: Dual incision in TC-NER See in Reactome	R-HSA-5696399 R-HSA-5696399 Reactome Name: Global Genome Nucleotide Excision Repair (GG-NER) See in Reactome R-HSA-5696398 R-HSA-5696398 Reactome Name: Nucleotide Excision Repair See in Reactome R-HSA-5693567 R-HSA-5693567 Reactome Name: HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) See in Reactome R-HSA-5693538 R-HSA-5693538 Reactome Name: Homology Directed Repair See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair See in Reactome R-HSA-5693532 R-HSA-5693532 Reactome Name: DNA Double-Strand Break Repair See in Reactome R-HSA-6781827 R-HSA-6781827 Reactome Name: Transcription-Coupled Nucleotide Excision Repair (TC-NER) See in Reactome	DNA Repair	R-HSA-109955 ( R-HSA-5696395 ) R-HSA-109955 Reaction Name: Formation of ERCC1:XPF heterodimeric complex See in Reactome R-HSA-5686657 ( R-HSA-5685938 ) R-HSA-5686657 Reaction Name: ERCC1:XPF cleaves flaps generated by SSA See in Reactome R-HSA-5690213 ( R-HSA-5696400 ) R-HSA-5690213 Reaction Name: DNA polymerases delta, epsilon or kappa bind the GG-NER site See in Reactome R-HSA-5690988 ( R-HSA-5696400 ) R-HSA-5690988 Reaction Name: 3'-incision of DNA by ERCC5 (XPG) in GG-NER See in Reactome R-HSA-5690990 ( R-HSA-5696400 ) R-HSA-5690990 Reaction Name: 5'- incision of DNA by ERCC1:ERCC4 in GG-NER See in Reactome R-HSA-5690991 ( R-HSA-5696395 ) R-HSA-5690991 Reaction Name: Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER See in Reactome R-HSA-6782141 ( R-HSA-6782135 ) R-HSA-6782141 Reaction Name: Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER See in Reactome R-HSA-6782204 ( R-HSA-6782135 ) R-HSA-6782204 Reaction Name: 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER See in Reactome R-HSA-6782211 ( R-HSA-6782135 ) R-HSA-6782211 Reaction Name: DNA polymerases delta, epsilon or kappa bind the TC-NER site See in Reactome R-HSA-6782224 ( R-HSA-6782135 ) R-HSA-6782224 Reaction Name: 3' incision by ERCC5 (XPG) in TC-NER See in Reactome R-HSA-6785732 ( R-HSA-6783310 ) R-HSA-6785732 Reaction Name: DNA nucleases bind monoubiquitinated ID2 complex See in Reactome R-HSA-6785986 ( R-HSA-6783310 ) R-HSA-6785986 Reaction Name: DNA nucleases unhook the interstrand crosslink (ICL) See in Reactome