ALTERED NUCLEOTIDE EXCISION REPAIR PATHWAY (PW:0001359)

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Description

DNA lesions, induced by endogenous or exogenous agents, affect the faithful replication of the genome resulting in genetic aberrations that can be deleterious to the cell and organism. Multiple systems have evolved to detect single and double-strand DNA lesions, initiate signals that can be amplified and propagated, and set in motion effectors that can impinge upon DNA repair and checkpoint, various signaling and/or regulatory pathways, as necessary. Together, this vast response mechanism is kn

Pathway Diagram:

Ariadne Genomics Inc. Trichothiodystrophy Syndromes Cockayne Syndrome Xeroderma Pigmentosum Ercc2 ---> Trichothiodystrophy Syndromes Ercc2 ---> Xeroderma Pigmentosum Ercc2 Xpc ---> Xeroderma Pigmentosum Xpc Ddb1 ---> Xeroderma Pigmentosum Ddb1 Ercc3 ---> Trichothiodystrophy Syndromes Ercc4 ---> Xeroderma Pigmentosum Ercc5 ---> Xeroderma Pigmentosum Ercc5 Xpa ---> Xeroderma Pigmentosum Xpa Ercc4 Ercc3 ---> Xeroderma Pigmentosum Ercc3 Ercc8 ---> Cockayne Syndrome Ercc8 Ercc6 ---> Cockayne Syndrome Ercc6 Ddb2 pold complex Rpa complex Hmgn1 Gtf2h1 pole complex stalled polrII complex pole complex ---- Rpa complex pold complex ---- Rpa complex Polk ---- Rpa complex Xrcc1 Lig1 Lig3 ---- Xrcc1 Lig3 TFIIH complex Xab2 Pcna ---- Rfc complex Pcna ---- pole complex Cetn2 Rad23b Pcna ---- pold complex Pcna Polk Pcna ---- Polk Ercc1 Gtf2h2 Rfc complex chromatin modification/remodeling pathway
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Genes in Pathway:

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altered nucleotide excision repair pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage-specific DNA binding protein 1 JBrowse link 1 226,657,561 226,683,356 RGD:7246919
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7246919
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:7246919
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7246919
RGD:9588971
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7246919
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7246919
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:7246919
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:7246919

Pathway Gene Annotations

Disease Annotations Associated with Genes in the altered nucleotide excision repair pathway
Disease TermsGene Symbols
acoustic neuromaErcc2
acquired immunodeficiency syndromeErcc2
acute myeloid leukemiaErcc2
age related macular degeneration 5Ercc6
Alzheimer's diseaseErcc2 , Ercc3
amino acid metabolic disorderXpc
Anthracycline-induced CardiotoxicityErcc2
arrhythmogenic right ventricular cardiomyopathyXpc
Arsenic PoisoningErcc3 , Ercc4
ArthrogryposisErcc6
asphyxia neonatorumErcc2 , Ercc3
asphyxiating thoracic dystrophyXpa
asphyxiating thoracic dystrophy 3Xpa
autistic disorderXpc
basal cell carcinomaXpa
Breast NeoplasmsErcc2
Burn-Mckeown SyndromeXpc
cataractErcc2 , Ercc6
Cerebrooculofacioskeletal SyndromeErcc6
Cerebrooculofacioskeletal Syndrome 1Ercc2 , Ercc6
Cerebrooculofacioskeletal Syndrome 2Ercc2
Cerebrooculofacioskeletal Syndrome 3Ercc5
Chemical and Drug Induced Liver InjuryDdb1
Chromosome AberrationsErcc2 , Xpc
Chronic Lymphocytic Leukemia, B-CellErcc2
chronic myeloid leukemiaErcc2
Cockayne syndromeErcc2 , Ercc3 , Ercc5 , Ercc6 , Ercc8 , Xpa
Cockayne Syndrome AErcc8
Cockayne Syndrome BErcc6
Cognitive DysfunctionErcc5
Colorectal NeoplasmsErcc2
congenital ichthyosiform erythrodermaErcc2
coronary artery diseaseErcc2
Craniofacial AbnormalitiesErcc6
De Sanctis-Cacchione SyndromeErcc6
Disease ProgressionDdb1 , Xpc
Down syndromeErcc2 , Ercc3
Drug-induced NeutropeniaErcc2
Drug-Related Side Effects and Adverse ReactionsErcc2
DysarthriaErcc5
Endometrial NeoplasmsErcc2
epidermolytic hyperkeratosisErcc2
esophageal atresia/tracheoesophageal fistulaErcc4
Experimental Diabetes MellitusErcc4
Fanconi anemia complementation group QErcc4
fibrosarcomaErcc6
fragile X syndromeErcc6
Funnel ChestErcc5
Gallbladder NeoplasmsErcc2
genetic diseaseErcc2 , Ercc6
Genetic Predisposition to DiseaseErcc4
Germ Cell and Embryonal NeoplasmsErcc4
Growth DisordersErcc6
Head and Neck NeoplasmsErcc2
Hearing LossErcc6
Hereditary Neoplastic SyndromesErcc4
Intestinal NeoplasmsXpa
Leigh diseaseErcc8
liver neoplasmXpa , Xpc
lung adenocarcinomaXpc
lung cancerErcc6 , Xpc
Lung NeoplasmsErcc2 , Ercc3 , Ercc6 , Xpc
lymphomaErcc6
macular degenerationErcc2 , Ercc6
malignant gliomaErcc2
melanomaErcc2 , Ercc5
metachromatic leukodystrophyErcc2
microcephalyErcc6
Micronuclei, Chromosome-DefectiveErcc4 , Xpa , Xpc
microphthalmiaErcc6
middle cerebral artery infarctionErcc6
mitochondrial complex I deficiencyErcc8
Mouth NeoplasmsErcc2
multiple myelomaErcc2
myelodysplastic syndromeErcc2
myelofibrosisErcc2
Neoplasm InvasivenessXpc
Neoplasm MetastasisErcc4 , Xpc
non-small cell lung carcinomaErcc2 , Ercc3 , Xpc
nonphotosensitive trichothiodystrophyErcc2 , Ercc3
Occupational DiseasesErcc2
Oculootofacial DysplasiaXpc
oral mucosa leukoplakiaErcc2
osteosarcomaErcc2
Ovarian NeoplasmsErcc2
pancreatic cancerErcc2 , Ercc4 , Xpc
paraplegiaErcc5
peripheral nervous system diseaseErcc3 , Ercc4 , Ercc5
photosensitive trichothiodystrophyErcc2
Photosensitive Trichothiodystrophy 1Ercc2 , Ercc3
Photosensitive Trichothiodystrophy 2Ercc3
polyneuropathyErcc5
precursor lymphoblastic lymphoma/leukemiaErcc2
Premature AgingErcc6
Premature Ovarian Failure 11Ercc6
Prostatic NeoplasmsErcc2
Psychomotor DisordersErcc6
RecurrenceErcc4
retinal diseaseErcc8
Saldino-Noonan syndromeXpa
senile cataractErcc2
sensorineural hearing lossErcc6 , Ercc8
serous cystadenocarcinomaXpc
short-rib thoracic dysplasia 6 with or without polydactylyXpa
Skin AbnormalitiesErcc2
skin diseaseErcc2
Skin NeoplasmsErcc2 , Xpa
squamous cell carcinomaErcc2 , Ercc6 , Xpc
Stomach NeoplasmsDdb1 , Ercc2
SunburnErcc2
Talipes CavusErcc5
Testicular NeoplasmsErcc4
transient cerebral ischemiaErcc6
Trichothiodystrophy SyndromesErcc2 , Ercc3
urinary bladder cancerErcc2 , Ercc4
UV-sensitive syndromeErcc6 , Ercc8
UV-Sensitive Syndrome 1Ercc6
UV-Sensitive Syndrome 2Ercc8
xeroderma pigmentosumDdb1 , Ercc2 , Ercc3 , Ercc4 , Ercc5 , Xpa , Xpc
xeroderma pigmentosum group AXpa , Xpc
xeroderma pigmentosum group BErcc3
xeroderma pigmentosum group CXpc
xeroderma pigmentosum group DErcc2
xeroderma pigmentosum group FErcc4
xeroderma pigmentosum group GErcc5
XFE progeroid syndromeErcc4
Pathway Annotations Associated with Genes in the altered nucleotide excision repair pathway

References Associated with the altered nucleotide excision repair pathway:

Ontology Path Diagram:

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