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
Acquired Immunodeficiency SyndromeErcc2
Adenocarcinoma of LungXpc
Aging, PrematureErcc6
Alzheimer DiseaseErcc2 , Ercc3
Amino Acid Metabolism, Inborn ErrorsXpc
Anthracycline-induced CardiotoxicityErcc2
Arrhythmogenic Right Ventricular DysplasiaXpc
Arsenic PoisoningErcc3 , Ercc4
ArthrogryposisErcc6
Asphyxia NeonatorumErcc2 , Ercc3
Autistic DisorderXpc
Breast NeoplasmsErcc2
Burn-Mckeown SyndromeXpc
Carcinoma, Basal CellXpa
Carcinoma, Non-Small-Cell LungErcc2
Carcinoma, Squamous CellErcc2 , Ercc6
CataractErcc2 , Ercc6
Cerebrooculofacioskeletal Syndrome 1Ercc2 , Ercc6
Cerebrooculofacioskeletal Syndrome 2Ercc2
Cerebrooculofacioskeletal Syndrome 3Ercc5
Chromosome AberrationsErcc2 , Xpc
Cockayne SyndromeErcc2 , Ercc3 , Ercc4 , Ercc5 , Ercc6 , Ercc8 , Xpa
Cognition DisordersErcc5
Colorectal NeoplasmsErcc2
Coronary Artery DiseaseErcc2
Craniofacial AbnormalitiesErcc6
Cystadenocarcinoma, SerousXpc
De Sanctis-Cacchione SyndromeErcc6
Diabetes Mellitus, ExperimentalErcc4
Disease ProgressionDdb1
Down SyndromeErcc2 , Ercc3
Drug-induced NeutropeniaErcc2
Drug-Related Side Effects and Adverse ReactionsErcc2
DysarthriaErcc5
Endometrial NeoplasmsErcc2
Esophageal Atresia with or without Tracheoesophageal FistulaErcc4
Fanconi Anemia, Complementation Group QErcc4
FibrosarcomaErcc6
Foot DeformitiesErcc5
Fragile X SyndromeErcc6
Funnel ChestErcc5
Gallbladder NeoplasmsErcc2
Genetic Predisposition to DiseaseErcc4
GliomaErcc2
Growth DisordersErcc6
Head and Neck NeoplasmsErcc2
Hearing LossErcc6
Hearing Loss, SensorineuralErcc6
Hyperkeratosis, EpidermolyticErcc2
Ichthyosiform Erythroderma, CongenitalErcc2
Ichthyosis, Congenital, with TrichothiodystrophyErcc2
Infarction, Middle Cerebral ArteryErcc6
Intestinal NeoplasmsXpa
Ischemic Attack, TransientErcc6
Leigh DiseaseErcc8
Leukemia, Lymphocytic, Chronic, B-CellErcc2
Leukemia, Myelogenous, Chronic, BCR-ABL PositiveErcc2
Leukemia, Myeloid, AcuteErcc2
Leukoplakia, OralErcc2
Lung NeoplasmsErcc2 , Ercc6 , Xpc
LymphomaErcc6
Macular DegenerationErcc2 , Ercc6
Macular Degeneration, Age-Related, 5Ercc6
MelanomaErcc2 , Ercc5
MicrocephalyErcc6
Micronuclei, Chromosome-DefectiveErcc4 , Xpa , Xpc
MicrophthalmosErcc6
Mitochondrial Complex I DeficiencyErcc8
Mouth NeoplasmsErcc2
Multiple MyelomaErcc2
Myelodysplastic SyndromesErcc2
Neoplasm MetastasisErcc4
Neoplasms, Germ Cell and EmbryonalErcc4
Neoplastic Syndromes, HereditaryErcc4
Neuroma, AcousticErcc2
Occupational DiseasesErcc2
Oculootofacial DysplasiaXpc
OsteosarcomaErcc2
Ovarian NeoplasmsErcc2
Pancreatic NeoplasmsErcc2 , Ercc4 , Xpc
ParaplegiaErcc5
Peripheral Nervous System DiseasesErcc3 , Ercc4 , Ercc5
PolyneuropathiesErcc5
Precursor Cell Lymphoblastic Leukemia-LymphomaErcc2
Premature Ovarian Failure 11Ercc6
Primary MyelofibrosisErcc2
Prostatic NeoplasmsErcc2
Psychomotor DisordersErcc6
RecurrenceErcc4
Retinal DiseasesErcc8
Senile CataractErcc2
Skin AbnormalitiesErcc2
Skin DiseasesErcc2
Skin NeoplasmsErcc2 , Xpa
Stomach NeoplasmsDdb1 , Ercc2
SunburnErcc2
Testicular NeoplasmsErcc4
Trichothiodystrophy 1, PhotosensitiveErcc2 , Ercc3
Trichothiodystrophy SyndromesErcc2 , Ercc3
Urinary Bladder NeoplasmsErcc2 , Ercc4
UV-Sensitive SyndromeErcc6
UV-Sensitive Syndrome 1Ercc6
UV-Sensitive Syndrome 2Ercc8
Xeroderma PigmentosumDdb1 , Ercc2 , Ercc3 , Ercc4 , Ercc5 , Xpa , Xpc
Xeroderma Pigmentosum, Complementation Group BErcc3
Xeroderma Pigmentosum, Complementation Group CXpc
Xeroderma Pigmentosum, Complementation Group DErcc2 , Ercc6
Xeroderma Pigmentosum, Complementation Group FErcc4
Xeroderma Pigmentosum, Complementation Group GErcc5
Xeroderma Pigmentosum, Type G/Cockayne SyndromeErcc5
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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