AutismKB 2.0

Annotation Detail for ERCC6


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Basic Information Top
Gene Symbol:ERCC6 ( ARMD5,CKN2,COFS,COFS1,CSB,RAD26 )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6
Band: 10q11.23
Quick LinksEntrez ID:2074; OMIM: 609413; Uniprot ID:ERCC6_HUMAN; ENSEMBL ID: ENSG00000225830; HGNC ID: 3438
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03420Nucleotide excision repair
Pathway IDPathway Name
DNA Repair
No data
No data
Pathway IDPathway Name
500064Transcription-coupled NER (TC-NER)
500066Dual incision reaction in TC-NER
500065Formation of transcription-coupled NER (TC-NER) repair complex
Related Diseases/Disorders Top
Desease IDDesease Name
H00076Cockayne syndrome
Nervous system diseases
Neurodegenerative diseases
Inherited disorders of DNA repair systems
H00403Disorders of nucleotide excision repair
Genetic disorders
Desease IDDesease Name
1802Cockayne syndrome
1840Macular degeneration
2066Lung cancer
Desease Name
age-related macular degeneration
NEUROLOGICAL
Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum
chromosomal damage
No data
Desease Name
Cerebrooculofacioskeletal syndrome 1
UV-sensitive syndrome
Macular degeneration, age-related, susceptibility to 5
Lung cancer
Cockayne syndrome, type B
De Sanctis-Cacchione syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ERCC6 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of ERCC6 mRNAincreases expression 20064835
D004051 Diethylhexyl Phthalate ERCC6 gene mutant form results in increased susceptibility to Diethylhexyl Phthalateincreases response to substance 15340056
D010126 Ozone ERCC6 gene mutant form promotes the reaction [Ozone results in increased expression of CXCL2 protein]increases expression|increases reaction 17095637
D010126 Ozone ERCC6 gene mutant form promotes the reaction [Ozone results in increased expression of TNF protein]increases expression|increases reaction 17095637
D010269 Paraquat ERCC6 gene mutant form results in increased susceptibility to Paraquatincreases response to substance 15340056
12509265
C017947 sodium arsenite sodium arsenite results in decreased expression of ERCC6 mRNAdecreases expression 17558810
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ERCC6 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Diethylhexyl Phthalate 10.066734493
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.0611752688 15322242 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.1415276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.3517306315 16712894
MESH:D000382 Agricultural Workers' Diseases Paraquat 4.1611874814
MESH:D000544 Alzheimer Disease Ozone 2.4815513908
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001172 Arthritis, Rheumatoid Ozone 2.6115570426
MESH:D001176 Arthrogryposis marker/mechanism 18628313
MESH:D001249 Asthma Ozone 2.7016373670 17854713
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8720146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.9015516495 16777450 18417511 14754758 18315731 19059883 17626835
MESH:D002100 Cachexia Ozone 5.1416183385
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1416705839
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.1416507464 17306315 15276417
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8220419170
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.8218572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002386 Cataract marker/mechanism 18628313
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.366135515
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 7.3619524636 20056578
OMIM:214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1 marker/mechanism
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 15340226 12621046 8697196 16354765
MESH:D003057 Cockayne Syndrome marker/mechanism
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities marker/mechanism 18628313
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3818551238
MESH:D003876 Dermatitis, Atopic Diethylhexyl Phthalate 4.1516882537
MESH:C535992 De Sanctis-Cacchione syndrome marker/mechanism
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.0816452187
MESH:D005911 Gliosis Paraquat 5.6111124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006130 Growth Disorders marker/mechanism 18628313
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8810048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006689 Hodgkin Disease sodium arsenite 3.4012676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916354765 18606429 15340226 8697196 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007248 Infertility, Male Paraquat 7.514850670
MESH:D007248 Infertility, Male sodium arsenite 7.5115346721 12646999
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases sodium arsenite 2.9420008137
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2116705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 15.237678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 15.2321137059 20195826
MESH:D008113 Liver Neoplasms Diethylhexyl Phthalate 15.2311940454
MESH:D008113 Liver Neoplasms sodium arsenite 15.2316712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 15.2316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.272876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008171 Lung Diseases Ozone 8.1119066396 8266340
MESH:D008171 Lung Diseases sodium arsenite 8.1119095001
MESH:D055370 Lung Injury Ozone 4.2120417186
MESH:D008175 Lung Neoplasms marker/mechanism
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0618816296 18520028 20464547 20064080 18569708 20135361 20869020 17053015 6695378
MESH:D008175 Lung Neoplasms Ozone 5.068597069 7614698
MESH:D008175 Lung Neoplasms sodium arsenite 5.0616712894 19931552 17306315 17077188 15276417
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0619555203 11884234
MESH:D008268 Macular Degeneration marker/mechanism
MESH:D008545 Melanoma sodium arsenite 2.0619082730 16487513
MESH:D008679 Metaplasia Ozone 5.5510496685
MESH:D008831 Microcephaly marker/mechanism 18628313
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.267678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4311141357
MESH:D009369 Neoplasms sodium arsenite 5.4311559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.0220056578
MESH:D009410 Nerve Degeneration Paraquat 3.9316893418
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.3112854658
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7016049721
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5015276417 17306315
MESH:D010300 Parkinson Disease Paraquat 2.9011445065 16510128 12911755 11181820 15451049 11124998 15824117 16140633
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.7916190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010538 Peritonitis Ozone 4.4916369182
MESH:D011014 Pneumonia Ozone 12.4218007984 18929643 18381685
MESH:D011014 Pneumonia Paraquat 12.4212504350
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911222880 11896295 11399792 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1317292933
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.1316039940
MESH:D011596 Psychomotor Disorders marker/mechanism 18628313
MESH:D011658 Pulmonary Fibrosis Paraquat 3.0016324872 17997886
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.2111700416
MESH:D012135 Respiratory Sounds Paraquat 4.4111874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012162 Retinal Degeneration Paraquat 4.0716458197
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7118551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 10.0719755658 10029692
MESH:D012878 Skin Neoplasms sodium arsenite 10.0718572023 19524636
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.0716192470
MESH:D016135 Spinal Dysraphism sodium arsenite 4.0112854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8416049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.8417053015
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.8416712894 11723127 17306315 16452187
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7110091137
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.0311813266
OMIM:600630 UV-SENSITIVE SYNDROME marker/mechanism
MESH:D014652 Vascular Diseases sodium arsenite 4.8217056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
REACT:216 DNA Repair
KEGG:03420 Nucleotide excision repair
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27852
    • No data
    Releated disease ID Related disease Name
    PA446969Venous Thrombosis
    PA443756Colonic Neoplasms
    PA444818Lung Neoplasms
    PA444283Glioblastoma
    Releated drug ID Related drug Name
    PA451644thalidomide
    PA448771capecitabine
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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