DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0012553)

Number of enzymes:	1
Number of disease:	1
Number of reactomes:	22
Number of reactions:	69

Search results (Disease ID: MONDO:0012553)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0012553	ERCC2	P18074	3.6.4.12	R-HSA-6796648 R-HSA-6796648 Reactome Name: TP53 Regulates Transcription of DNA Repair Genes See in Reactome R-HSA-6782135 R-HSA-6782135 Reactome Name: Dual incision in TC-NER 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-73776 R-HSA-73776 Reactome Name: RNA Polymerase II Promoter Escape See in Reactome R-HSA-73779 R-HSA-73779 Reactome Name: RNA Polymerase II Transcription Pre-Initiation And Promoter Opening See in Reactome R-HSA-674695 R-HSA-674695 Reactome Name: RNA Polymerase II Pre-transcription Events See in Reactome R-HSA-76042 R-HSA-76042 Reactome Name: RNA Polymerase II Transcription Initiation And Promoter Clearance See in Reactome R-HSA-427413 R-HSA-427413 Reactome Name: NoRC negatively regulates rRNA expression See in Reactome R-HSA-6781827 R-HSA-6781827 Reactome Name: Transcription-Coupled Nucleotide Excision Repair (TC-NER) See in Reactome R-HSA-6781823 R-HSA-6781823 Reactome Name: Formation of TC-NER Pre-Incision Complex See in Reactome R-HSA-5696395 R-HSA-5696395 Reactome Name: Formation of Incision Complex in GG-NER See in Reactome R-HSA-72086 R-HSA-72086 Reactome Name: mRNA Capping See in Reactome R-HSA-5696400 R-HSA-5696400 Reactome Name: Dual Incision in GG-NER See in Reactome R-HSA-77075 R-HSA-77075 Reactome Name: RNA Pol II CTD phosphorylation and interaction with CE See in Reactome R-HSA-73762 R-HSA-73762 Reactome Name: RNA Polymerase I Transcription Initiation See in Reactome R-HSA-73863 R-HSA-73863 Reactome Name: RNA Polymerase I Transcription Termination See in Reactome R-HSA-112382 R-HSA-112382 Reactome Name: Formation of RNA Pol II elongation complex See in Reactome R-HSA-2564830 R-HSA-2564830 Reactome Name: Cytosolic iron-sulfur cluster assembly See in Reactome R-HSA-73772 R-HSA-73772 Reactome Name: RNA Polymerase I Promoter Escape See in Reactome R-HSA-113418 R-HSA-113418 Reactome Name: Formation of the Early Elongation Complex See in Reactome R-HSA-75953 R-HSA-75953 Reactome Name: RNA Polymerase II Transcription Initiation See in Reactome R-HSA-75955 R-HSA-75955 Reactome Name: RNA Polymerase II Transcription Elongation See in Reactome	R-HSA-5250941 R-HSA-5250941 Reactome Name: Negative epigenetic regulation of rRNA expression See in Reactome R-HSA-5696398 R-HSA-5696398 Reactome Name: Nucleotide Excision Repair See in Reactome R-HSA-3700989 R-HSA-3700989 Reactome Name: Transcriptional Regulation by TP53 See in Reactome R-HSA-212436 R-HSA-212436 Reactome Name: Generic Transcription Pathway See in Reactome R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome R-HSA-5696399 R-HSA-5696399 Reactome Name: Global Genome Nucleotide Excision Repair (GG-NER) See in Reactome R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism 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 R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Metabolism of RNA Metabolism DNA Repair	R-HSA-109639 ( R-HSA-73779 ) R-HSA-109639 Reaction Name: Formation of the closed pre-initiation complex See in Reactome R-HSA-111264 ( R-HSA-73776; R-HSA-76042 ) R-HSA-111264 Reaction Name: Addition of nucleotides between position +11 and +30 See in Reactome R-HSA-112379 ( R-HSA-112382; R-HSA-75955 ) R-HSA-112379 Reaction Name: Recruitment of elongation factors to form elongation complex See in Reactome R-HSA-112383 ( R-HSA-113418; R-HSA-75955 ) R-HSA-112383 Reaction Name: Hypophosphorylation of RNA Pol II CTD by FCP1P protein See in Reactome R-HSA-112385 ( R-HSA-75955 ) R-HSA-112385 Reaction Name: Addition of nucleotides leads to transcript elongation See in Reactome R-HSA-113430 ( R-HSA-77075 ) R-HSA-113430 Reaction Name: Extrusion of 5'-end of 30 nt long transcript through the pore in Pol II complex See in Reactome R-HSA-2564828 ( R-HSA-2564830 ) R-HSA-2564828 Reaction Name: CIA Targeting Complex transfers 4Fe-4S cluster to apoproteins See in Reactome R-HSA-427366 ( R-HSA-427413 ) R-HSA-427366 Reaction Name: Transcription of intergenic spacer of the rRNA gene See in Reactome R-HSA-5689317 ( R-HSA-5696395 ) R-HSA-5689317 Reaction Name: Formation of the pre-incision complex in GG-NER See in Reactome R-HSA-5689861 ( R-HSA-5696395 ) R-HSA-5689861 Reaction Name: Recruitment of XPA and release of CAK 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-5690996 ( R-HSA-5696395 ) R-HSA-5690996 Reaction Name: ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA See in Reactome R-HSA-5691000 ( R-HSA-5696395 ) R-HSA-5691000 Reaction Name: TFIIH binds GG-NER site to form a verification complex See in Reactome R-HSA-5696670 ( R-HSA-5696395 ) R-HSA-5696670 Reaction Name: CHD1L is recruited to GG-NER site See in Reactome R-HSA-6781818 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6781818 Reaction Name: RNA Pol II initiates transcription from damaged DNA template See in Reactome R-HSA-6781824 ( R-HSA-6781823; R-HSA-6781827 ) R-HSA-6781824 Reaction Name: Active RNA Pol II complex transcribes lesion-containing DNA template 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-6790454 ( R-HSA-5696395 ) R-HSA-6790454 Reaction Name: SUMOylation of XPC See in Reactome R-HSA-6790487 ( R-HSA-5696395 ) R-HSA-6790487 Reaction Name: RNF111 ubiquitinates SUMOylated XPC See in Reactome R-HSA-6797606 ( R-HSA-6796648 ) R-HSA-6797606 Reaction Name: CDK12 phosphorylates RNA Pol II CTD at DNA repair genes See in Reactome R-HSA-6797616 ( R-HSA-6796648 ) R-HSA-6797616 Reaction Name: CCNK:CDK12 binds RNA Pol II at DNA repair genes See in Reactome R-HSA-6797712 ( R-HSA-6796648 ) R-HSA-6797712 Reaction Name: CDK12 stimulates expression of DNA repair genes See in Reactome R-HSA-73758 ( R-HSA-73762 ) R-HSA-73758 Reaction Name: Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter See in Reactome R-HSA-73769 ( R-HSA-73772 ) R-HSA-73769 Reaction Name: Loss of Rrn3 from RNA Polymerase I promoter escape complex See in Reactome R-HSA-73946 ( R-HSA-674695 ) R-HSA-73946 Reaction Name: Abortive initiation after formation of the first phosphodiester bond See in Reactome R-HSA-74986 ( R-HSA-73772 ) R-HSA-74986 Reaction Name: Elongation of pre-rRNA transcript See in Reactome R-HSA-74992 ( R-HSA-73863 ) R-HSA-74992 Reaction Name: Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box See in Reactome R-HSA-74993 ( R-HSA-73863 ) R-HSA-74993 Reaction Name: PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box See in Reactome R-HSA-74994 ( R-HSA-73863 ) R-HSA-74994 Reaction Name: Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box See in Reactome R-HSA-75850 ( R-HSA-73776; R-HSA-76042 ) R-HSA-75850 Reaction Name: Addition of the third nucleotide on the nascent transcript See in Reactome R-HSA-75856 ( R-HSA-674695 ) R-HSA-75856 Reaction Name: Abortive Initiation Before Second Transition See in Reactome R-HSA-75861 ( R-HSA-75953; R-HSA-76042 ) R-HSA-75861 Reaction Name: NTP Binds Active Site of RNA Polymerase II See in Reactome R-HSA-75862 ( R-HSA-674695 ) R-HSA-75862 Reaction Name: Fall Back to Closed Pre-initiation Complex See in Reactome R-HSA-75864 ( R-HSA-75953; R-HSA-76042 ) R-HSA-75864 Reaction Name: Newly Formed Phosphodiester Bond Stabilized and PPi Released See in Reactome R-HSA-75866 ( R-HSA-75953; R-HSA-76042 ) R-HSA-75866 Reaction Name: Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP See in Reactome R-HSA-75869 ( R-HSA-73776; R-HSA-76042 ) R-HSA-75869 Reaction Name: Addition of the fourth nucleotide on the Nascent Transcript: Second Transition See in Reactome R-HSA-75873 ( R-HSA-73776; R-HSA-76042 ) R-HSA-75873 Reaction Name: Addition of Nucleotides 5 through 9 on the growing Transcript See in Reactome R-HSA-75891 ( R-HSA-674695 ) R-HSA-75891 Reaction Name: Abortive Initiation After Second Transition See in Reactome R-HSA-75949 ( R-HSA-76042 ) R-HSA-75949 Reaction Name: RNA Polymerase II Promoter Opening: First Transition See in Reactome R-HSA-76576 ( R-HSA-73776; R-HSA-76042 ) R-HSA-76576 Reaction Name: Addition of nucleotides 10 and 11 on the growing transcript: Third Transition See in Reactome R-HSA-77068 ( R-HSA-72086; R-HSA-77075 ) R-HSA-77068 Reaction Name: Activation of GT See in Reactome R-HSA-77069 ( R-HSA-72086; R-HSA-77075 ) R-HSA-77069 Reaction Name: RNA Polymerase II CTD (phosphorylated) binds to CE See in Reactome R-HSA-77071 ( R-HSA-77075 ) R-HSA-77071 Reaction Name: Phosphorylation (Ser5) of RNA pol II CTD See in Reactome R-HSA-77073 ( R-HSA-72086; R-HSA-77075 ) R-HSA-77073 Reaction Name: SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) See in Reactome R-HSA-77077 ( R-HSA-72086 ) R-HSA-77077 Reaction Name: Capping complex formation See in Reactome R-HSA-77078 ( R-HSA-72086 ) R-HSA-77078 Reaction Name: Hydrolysis of the 5'-end of the nascent transcript by the capping enzyme See in Reactome R-HSA-77081 ( R-HSA-72086 ) R-HSA-77081 Reaction Name: Formation of the CE:GMP intermediate complex See in Reactome R-HSA-77083 ( R-HSA-72086 ) R-HSA-77083 Reaction Name: Transfer of GMP from the capping enzyme GT site to 5'-end of mRNA See in Reactome R-HSA-77085 ( R-HSA-72086 ) R-HSA-77085 Reaction Name: Dissociation of transcript with 5'-GMP from GT See in Reactome R-HSA-77090 ( R-HSA-72086 ) R-HSA-77090 Reaction Name: Methylation of GMP-cap by RNA Methyltransferase See in Reactome R-HSA-9613494 ( R-HSA-73776; R-HSA-76042 ) R-HSA-9613494 Reaction Name: Unwinding of DNA for the Nascent Transcript: Second Transition See in Reactome R-HSA-9613497 ( R-HSA-73776; R-HSA-76042 ) R-HSA-9613497 Reaction Name: Unwinding DNA for the nascent transcript 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