Base excision repair

Pathway network for the Base excision repair SuperPath

Sources:

WikiPathways
Reactome
GeneGo (Thomson Reuters)
QIAGEN

Pathways in the Base excision repair SuperPath

#	Name	Source	Genes
1	Base excision repair	WikiPathways	APEX1 APEX2 FEN1 HMGB1 LIG1 LIG3 MBD4 MPG MUTYH NEIL2 NEIL3 NTHL1 OGG1 PARP1 PARP2 PCNA PNKP POLB POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 POLL SMUG1 TDG UNG XRCC1 (see all 31) (see less)
2	Resolution of Abasic Sites (AP sites)	Reactome	ADPRS APEX1 FEN1 LIG1 LIG3 MBD4 MPG MUTYH NEIL1 NEIL2 NTHL1 OGG1 PARG PARP1 PARP2 PCNA PNKP POLB POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 RFC1 RFC2 RFC3 RFC4 RFC5 RPA1 RPA2 RPA3 SMUG1 TDG UNG XRCC1 (see all 38) (see less)
3	Cell cycle Transition and termination of DNA replication	GeneGo (Thomson Reuters)	BARD1 BRCA1 CCNA1 CCNA2 CDK1 CDK2 E2F1 E2F4 FEN1 LIG1 MCM2 PCNA POLA1 POLA2 POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 PRIM1 PRIM2 RFC1 RFC2 RFC3 RFC4 RFC5 RNASEH1 TFDP1 TOP1 TOP2A TOP2B UBA52 UBB UBC WRN (see all 38) (see less)
4	Resolution of AP sites via the multiple-nucleotide patch replacement pathway	Reactome	ADPRS APEX1 FEN1 LIG1 PARG PARP1 PARP2 PCNA POLB POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 RFC1 RFC2 RFC3 RFC4 RFC5 RPA1 RPA2 RPA3 (see all 25) (see less)
5	Gap-filling DNA repair synthesis and ligation in GG-NER	Reactome	LIG1 LIG3 PCNA POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 POLK RFC1 RFC2 RFC3 RFC4 RFC5 RPA1 RPA2 RPA3 RPS27A UBA52 UBB UBC XRCC1 (see all 25) (see less)
6	DNA mismatch repair	WikiPathways	EXO1 LIG1 MLH1 MSH2 MSH6 PCNA PMS2 POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 RFC1 RFC2 RFC3 RFC4 RFC5 RPA1 RPA2 RPA3 (see all 23) (see less)
7	PCNA-Dependent Long Patch Base Excision Repair	Reactome	APEX1 FEN1 LIG1 PCNA POLB POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 RFC1 RFC2 RFC3 RFC4 RFC5 RPA1 RPA2 RPA3 (see all 21) (see less)
8	Mismatch Repair in Eukaryotes	QIAGEN	EXO1 FEN1 MLH1 MSH2 MSH3 MSH6 PCNA PMS1 PMS2 POLA1 POLD1 POLE POLR1A RFC1 RFC2 RFC3 RFC4 RFC5 RPA2 RPA3 (see all 20) (see less)
9	Displacement of DNA glycosylase by APEX1	Reactome	APEX1 MBD4 MPG MUTYH NTHL1 OGG1 SMUG1 TDG UNG (see all 9) (see less)
10	POLB-Dependent Long Patch Base Excision Repair	Reactome	ADPRS APEX1 FEN1 LIG1 PARG PARP1 PARP2 POLB (see all 8) (see less)
11	APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway	Reactome	LIG3 NEIL1 NEIL2 OGG1 PNKP POLB XRCC1 (see all 7) (see less)
12	Resolution of AP sites via the single-nucleotide replacement pathway	Reactome	APEX1 LIG3 POLB XRCC1
13	Abasic sugar-phosphate removal via the single-nucleotide replacement pathway	Reactome	APEX1 POLB

Gene overlap in member pathways for Base excision repair SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	8
2	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	8
3	POLB	DNA Polymerase Beta	Protein Coding	8
4	PCNA	Proliferating Cell Nuclear Antigen	Protein Coding	8
5	LIG1	DNA Ligase 1	Protein Coding	8
6	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	8
7	FEN1	Flap Structure-Specific Endonuclease 1	Protein Coding	7
8	POLD3	DNA Polymerase Delta 3, Accessory Subunit	Protein Coding	7
9	POLD4	DNA Polymerase Delta 4, Accessory Subunit	Protein Coding	7
10	POLE4	DNA Polymerase Epsilon 4, Accessory Subunit	Protein Coding	7
11	POLE2	DNA Polymerase Epsilon 2, Accessory Subunit	Protein Coding	7
12	POLD2	DNA Polymerase Delta 2, Accessory Subunit	Protein Coding	7
13	POLE3	DNA Polymerase Epsilon 3, Accessory Subunit	Protein Coding	7
14	RFC1	Replication Factor C Subunit 1	Protein Coding	7
15	RFC2	Replication Factor C Subunit 2	Protein Coding	7
16	RFC3	Replication Factor C Subunit 3	Protein Coding	7
17	RFC4	Replication Factor C Subunit 4	Protein Coding	7
18	RFC5	Replication Factor C Subunit 5	Protein Coding	7
19	RPA2	Replication Protein A2	Protein Coding	6
20	RPA3	Replication Protein A3	Protein Coding	6
21	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	5
22	LIG3	DNA Ligase 3	Protein Coding	5
23	RPA1	Replication Protein A1	Protein Coding	5
24	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	4
25	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	4
26	PARP2	Poly(ADP-Ribose) Polymerase 2	Protein Coding	4
27	TDG	Thymine DNA Glycosylase	Protein Coding	3
28	MPG	N-Methylpurine DNA Glycosylase	Protein Coding	3
29	NEIL2	Nei Like DNA Glycosylase 2	Protein Coding	3
30	SMUG1	Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1	Protein Coding	3
31	MBD4	Methyl-CpG Binding Domain 4, DNA Glycosylase	Protein Coding	3
32	UNG	Uracil DNA Glycosylase	Protein Coding	3
33	NTHL1	Nth Like DNA Glycosylase 1	Protein Coding	3
34	MUTYH	MutY DNA Glycosylase	Protein Coding	3
35	PNKP	Polynucleotide Kinase 3''-Phosphatase	Protein Coding	3
36	ADPRS	ADP-Ribosylserine Hydrolase	Protein Coding	3
37	PARG	Poly(ADP-Ribose) Glycohydrolase	Protein Coding	3
38	NEIL1	Nei Like DNA Glycosylase 1	Protein Coding	2
39	POLA1	DNA Polymerase Alpha 1, Catalytic Subunit	Protein Coding	2
40	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	2
41	UBB	Ubiquitin B	Protein Coding	2
42	UBC	Ubiquitin C	Protein Coding	2
43	EXO1	Exonuclease 1	Protein Coding	2
44	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	2
45	MSH2	MutS Homolog 2	Protein Coding	2
46	MLH1	MutL Homolog 1	Protein Coding	2
47	MSH6	MutS Homolog 6	Protein Coding	2
48	NEIL3	Nei Like DNA Glycosylase 3	Protein Coding	1
49	HMGB1	High Mobility Group Box 1	Protein Coding	1
50	POLL	DNA Polymerase Lambda	Protein Coding	1
51	APEX2	Apurinic/Apyrimidinic Endodeoxyribonuclease 2	Protein Coding	1
52	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	1
53	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
54	CCNA2	Cyclin A2	Protein Coding	1
55	CDK1	Cyclin Dependent Kinase 1	Protein Coding	1
56	CDK2	Cyclin Dependent Kinase 2	Protein Coding	1
57	E2F1	E2F Transcription Factor 1	Protein Coding	1
58	E2F4	E2F Transcription Factor 4	Protein Coding	1
59	MCM2	Minichromosome Maintenance Complex Component 2	Protein Coding	1
60	PRIM1	DNA Primase Subunit 1	Protein Coding	1
61	PRIM2	DNA Primase Subunit 2	Protein Coding	1
62	TFDP1	Transcription Factor Dp-1	Protein Coding	1
63	TOP1	DNA Topoisomerase I	Protein Coding	1
64	TOP2A	DNA Topoisomerase II Alpha	Protein Coding	1
65	TOP2B	DNA Topoisomerase II Beta	Protein Coding	1
66	WRN	WRN RecQ Like Helicase	Protein Coding	1
67	CCNA1	Cyclin A1	Protein Coding	1
68	POLA2	DNA Polymerase Alpha 2, Accessory Subunit	Protein Coding	1
69	RNASEH1	Ribonuclease H1	Protein Coding	1
70	POLK	DNA Polymerase Kappa	Protein Coding	1
71	RPS27A	Ribosomal Protein S27a	Protein Coding	1
72	MSH3	MutS Homolog 3	Protein Coding	1
73	PMS1	PMS1 Homolog 1, Mismatch Repair System Component	Protein Coding	1
74	POLR1A	RNA Polymerase I Subunit A	Protein Coding	1

Disorders associated with Base excision repair SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Mismatch repair cancer syndrome 1	Enrichment	MLH1, MSH2, MSH6, PMS2	11.19
2	Colorectal cancer	Enrichment	MLH1, MSH2, MSH6, PMS1, PMS2, POLD1, POLE	10.71
3	Lynch syndrome	Enrichment	MLH1, MSH2, MSH6, PMS1, PMS2	10.63
4	Endometrial cancer	Enrichment	MLH1, MSH2, MSH3, MSH6, PMS2	10.01
5	Inherited cancer-predisposing syndrome	Enrichment	MLH1, MSH2, MSH3, MSH6, PMS2, POLD1, POLE	9.30
6	Lynch syndrome 1	Enrichment	MLH1, MSH2, MSH6, PMS2	9.15
7	Lynch syndrome 4	Enrichment	MSH2, MSH6, PMS2	7.96
8	Gastric cancer	Enrichment	MLH1, MSH2, MSH6, PMS2	6.39
9	Hereditary breast ovarian cancer syndrome	Enrichment	MLH1, MSH2, MSH6, PMS2	5.95
10	Rhabdomyosarcoma	Enrichment	MSH2, MSH6, PMS2	5.82
11	Familial colorectal cancer type x	Enrichment	MUTYH, POLD1, POLE	5.75
12	Muir-torre syndrome	Enrichment	MLH1, MSH2	5.69
13	Breast cancer	Enrichment	MLH1, MSH2, MSH6, PMS2	5.41
14	Polymerase proofreading-related polyposis	Enrichment	POLD1, POLE	5.21
15	Ovarian cancer	Enrichment	MSH2, MSH6, PMS1, PMS2	4.89
16	Hereditary breast carcinoma	Enrichment	MLH1, MSH2, MSH6	4.46
17	Familial colorectal cancer	Enrichment	MLH1, MSH2	4.03
18	Uterine corpus cancer	Enrichment	MSH2, MSH6	3.95
19	Spinocerebellar ataxia, autosomal recessive 26	Enrichment	XRCC1	3.53
20	Ataxia-oculomotor apraxia 4	Enrichment	PNKP	3.29
21	Mitochondrial dna depletion syndrome 20	Enrichment	LIG3	3.23
22	Immunodeficiency 96	Enrichment	LIG1	3.23
23	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	Enrichment	ADPRS	3.23
24	Melanoma, uveal 1	Enrichment	MBD4	3.18
25	Familial adenomatous polyposis 3	Enrichment	NTHL1	3.18
26	Tumor predisposition syndrome 2	Enrichment	MBD4	3.18
27	Charcot-marie-tooth disease, axonal, type 2b2	Enrichment	PNKP	2.99
28	Congenital disorder of deglycosylation 2	Enrichment	NEIL1	2.99
29	Charcot-marie-tooth disease type 2b2	Enrichment	PNKP	2.99
30	Microcephaly, seizures, and developmental delay	Enrichment	PNKP	2.99
31	Familial adenomatous polyposis 2	Enrichment	MUTYH	2.88
32	Immunodeficiency with hyper-igm, type 5	Enrichment	UNG	2.88
33	Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development	Enrichment	POLE	2.83
34	Van esch-o'driscoll syndrome	Enrichment	POLA1	2.83
35	Colorectal cancer 10	Enrichment	POLD1	2.83
36	Colorectal cancer 12	Enrichment	POLE	2.83
37	Pigmentary disorder, reticulate, with systemic manifestations, x-linked	Enrichment	POLA1	2.83
38	Leukodystrophy, hypomyelinating, 27	Enrichment	POLR1A	2.83
39	Immunodeficiency 120	Enrichment	POLD1	2.83
40	Lynch syndrome 2	Enrichment	MLH1	2.83
41	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	Enrichment	POLD1	2.83
42	Ataxia-telangiectasia-like disorder 2	Enrichment	PCNA	2.83
43	Mismatch repair cancer syndrome 2	Enrichment	MSH2	2.83
44	Mismatch repair cancer syndrome 4	Enrichment	PMS2	2.83
45	Rectal benign neoplasm	Enrichment	MSH2	2.83
46	Pituitary cancer	Enrichment	PMS2	2.83
47	Ascending colon cancer	Enrichment	MSH2	2.83
48	Morimoto-ryu-malicdan neuromuscular syndrome	Enrichment	RFC4	2.83
49	Ovarian cyst	Enrichment	MSH2	2.83
50	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6	Enrichment	RPA1	2.81
51	Immunodeficiency 122	Enrichment	POLD3	2.81
52	Spastic paraplegia 7, autosomal recessive	Enrichment	MUTYH	2.70
53	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	PNKP	2.69
54	Developmental and epileptic encephalopathy 12	Enrichment	PNKP	2.69
55	Pancreatic cancer	Enrichment	BRCA1, POLD1	2.66
56	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	Enrichment	HMGB1	2.64
57	Pilomatrixoma	Enrichment	MUTYH	2.58
58	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	LIG3	2.58
59	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	2.55
60	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Enrichment	TOP2B	2.55
61	Infant-type hemispheric glioma	Enrichment	BRCA1	2.55
62	Deafness, autosomal dominant 70	Enrichment	MCM2	2.55
63	Primary peritoneal carcinoma	Enrichment	BRCA1	2.55
64	Burkitt lymphoma	Enrichment	PMS2	2.53
65	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Enrichment	POLE	2.53
66	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	Enrichment	RFC1	2.53
67	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Enrichment	POLE	2.53
68	Facial dysmorphism, immunodeficiency, livedo, and short stature	Enrichment	POLE	2.53
69	Acrofacial dysostosis, cincinnati type	Enrichment	POLR1A	2.53
70	Mismatch repair cancer syndrome 3	Enrichment	MSH6	2.53
71	Clear cell renal cell carcinoma	Enrichment	OGG1	2.51
72	Familial adenomatous polyposis 1	Enrichment	MUTYH	2.48
73	Hereditary clear cell renal cell carcinoma	Enrichment	OGG1	2.44
74	Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies	Enrichment	POLK	2.43
75	Submucosal cleft palate	Enrichment	UBB	2.43
76	Cleft hard palate	Enrichment	UBB	2.43
77	Partington syndrome	Enrichment	POLA1	2.35
78	Burn-mckeown syndrome	Enrichment	POLR1A	2.35
79	Lynch syndrome 5	Enrichment	MSH6	2.35
80	Familial adenomatous polyposis 4	Enrichment	MSH3	2.35
81	Cellular ependymoma	Enrichment	MSH2	2.35
82	Tanycytic ependymoma	Enrichment	MSH2	2.35
83	Papillary ependymoma	Enrichment	MSH2	2.35
84	Childhood apraxia of speech	Enrichment	RFC3	2.35
85	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Enrichment	MSH6	2.35
86	Colon adenocarcinoma	Enrichment	MSH6	2.35
87	Clear cell ependymoma	Enrichment	MSH2	2.35
88	Uvula, bifid	Enrichment	UBB	2.26
89	Cleft soft palate	Enrichment	UBB	2.26
90	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2	Enrichment	RNASEH1	2.25
91	Fanconi anemia, complementation group s	Enrichment	BRCA1	2.25
92	Werner syndrome	Enrichment	WRN	2.25
93	Pancreatic cancer 4	Enrichment	BRCA1	2.25
94	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	Enrichment	PRIM1	2.25
95	Inflammatory breast carcinoma	Enrichment	BRCA1	2.25
96	Peritoneum cancer	Enrichment	BRCA1	2.25
97	Bilateral breast cancer	Enrichment	BRCA1	2.25
98	Gaucher disease, type i	Enrichment	MSH6	2.23
99	Benign ependymoma	Enrichment	MSH2	2.23
100	Colonic benign neoplasm	Enrichment	MUTYH	2.22
101	Breast-ovarian cancer, familial 2	Enrichment	PMS2	2.13
102	Lymphoma	Enrichment	PMS2	2.13
103	Glioblastoma	Enrichment	MSH2	2.13
104	Renal cell carcinoma, nonpapillary	Enrichment	OGG1	2.11
105	Isolated congenital microcephaly	Enrichment	PNKP	2.08
106	Early infantile developmental and epileptic encephalopathy	Enrichment	PNKP	2.03
107	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	1.95
108	Cholangiocarcinoma	Enrichment	BRCA1	1.95
109	Cardiomyopathy, familial hypertrophic, 9	Enrichment	PMS2	1.79
110	Combined immunodeficiency	Enrichment	POLD1	1.79
111	Combined t cell and b cell immunodeficiency	Enrichment	POLD1	1.79
112	Combined t and b cell immunodeficiency	Enrichment	POLD1	1.79
113	Breast-ovarian cancer, familial 1	Enrichment	MSH2	1.72
114	Gliosarcoma	Enrichment	MSH2	1.63
115	Giant cell glioblastoma	Enrichment	MSH2	1.61
116	Diffuse large b-cell lymphoma	Enrichment	PMS2	1.56
117	Parkinson's disease	Enrichment	RFC1	1.56
118	Williams-beuren syndrome	Enrichment	RFC2	1.54
119	Hepatoblastoma	Enrichment	MSH2	1.52
120	Hepatocellular carcinoma	Enrichment	PMS2	1.50
121	Cardiomyopathy, dilated, 1g	Enrichment	PMS2	1.50
122	Parkinson disease, late-onset	Enrichment	RFC1	1.46
123	Medulloblastoma	Enrichment	WRN	1.41
124	Periventricular nodular heterotopia	Enrichment	BRCA1	1.41
125	Seckel syndrome	Enrichment	PRIM1	1.41
126	Cataract	Enrichment	WRN	1.41
127	Prostate cancer	Enrichment	MSH6	1.38
128	Lung cancer	Enrichment	MLH1	1.34
129	Congenital nervous system abnormality	Enrichment	PNKP	1.27
130	Nervous system disease	Enrichment	PNKP	1.27
131	Bladder cancer	Enrichment	BRCA1	1.11
132	Fanconi anemia, complementation group a	Enrichment	BRCA1	1.03
133	Type 2 diabetes mellitus	Enrichment	WRN	0.95
134	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MCM2	0.87
135	Myeloma, multiple	Enrichment	BARD1	0.84
136	Autism spectrum disorder	Enrichment	TOP2B	0.58

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Base excision repair

Pathway Network for Base excision repair

Pathway network for the Base excision repair SuperPath

Member Pathways for Base excision repair

Pathways in the Base excision repair SuperPath

Gene overlap in member pathways for Base excision repair SuperPath

Associated Genes for Base excision repair

Associated Disorders for Base excision repair

Disorders associated with Base excision repair SuperPath

STRING Interaction Network for Base excision repair

Sources for Base excision repair