AutismKB 2.0

Annotation Detail for ERCC4


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Basic Information Top
Gene Symbol:ERCC4 ( ERCC11,RAD1,XPF )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 4
Band: 16p13.12
Quick LinksEntrez ID:2072; OMIM: 133520; Uniprot ID:XPF_HUMAN; ENSEMBL ID: ENSG00000175595; HGNC ID: 3436
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
500065Formation of transcription-coupled NER (TC-NER) repair complex
500061Dual incision reaction in GG-NER
500060Formation of incision complex in GG-NER
500058Global Genomic NER (GG-NER)
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of DNA repair systems
H00403Disorders of nucleotide excision repair
Genetic disorders
Desease IDDesease Name
1720Fanconi's anemia
1783Testicular tumor
1944Breast cancer
Desease Name
CANCER
breast cancer
Neoplasms
Desease Name
Metabolic syndrome
Conduct disorder (symptom count)
Desease Name
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016392 3,3'-diindolylmethane 3,3'-diindolylmethane results in increased expression of ERCC4 mRNAincreases expression 16192472
D000082 Acetaminophen Acetaminophen affects the expression of ERCC4 mRNAaffects expression 17562736
D001151 Arsenic Arsenic results in decreased expression of ERCC4 mRNAdecreases expression 12569548
C006632 arsenic trioxide arsenic trioxide results in increased expression of ERCC4 mRNAincreases expression 17530438
D001205 Ascorbic Acid [Diethylnitrosamine co-treated with kojic acid co-treated with Ascorbic Acid] results in increased expression of ERCC4 mRNAaffects cotreatment|increases expression 17917374
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with kojic acid co-treated with Ascorbic Acid] results in increased expression of ERCC4 mRNAaffects cotreatment|increases expression 17917374
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of ERCC4 mRNAdecreases expression 17662478
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ERCC4 mRNAaffects expression 17555576
C011890 kojic acid [Diethylnitrosamine co-treated with kojic acid co-treated with Ascorbic Acid] results in increased expression of ERCC4 mRNAaffects cotreatment|increases expression 17917374
D008770 Methylnitrosourea Methylnitrosourea results in decreased expression of ERCC4 mRNAdecreases expression 16616109
D008770 Methylnitrosourea Methylnitrosourea results in increased expression of ERCC4 mRNAincreases expression 16616109
D010416 Pentachlorophenol Pentachlorophenol results in increased expression of ERCC4 mRNAincreases expression 18486366
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma arsenic trioxide 7.4119825857 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.4114692618
MESH:D000230 Adenocarcinoma Methylnitrosourea 7.4115113128 15688392
MESH:D000236 Adenoma Diethylnitrosamine 2.946695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.1419061943 18056438 17620307 17162532 19052882 16434500
MESH:D000310 Adrenal Gland Neoplasms Pentachlorophenol 6.3710696769
MESH:D018246 Adrenocortical Adenoma Arsenic 5.4817306315
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D020261 Arsenic Poisoning marker/mechanism 12569548
MESH:D020261 Arsenic Poisoning Arsenic 2.9116251483 12569548 16835338 18414634
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D050197 Atherosclerosis Arsenic 3.3412928151 19371607
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 3.8416206674
MESH:D001943 Breast Neoplasms Ascorbic Acid 2.1416443354
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1417474063
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.1416253758 11306469 14633655
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6815504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.783084413
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.7816507464 17306315
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.7815073043 14691202 11135700 16217749 15553829
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.7818971187 16288022 16681979 18210153 20935162 19052882 16830150 17978847 17428255 16328049 18056438 17761372 20524982 17173139 20007298 16779866 16540662 20727157 19418558 19822196 16807293 20214788 10737359 19171122 20432363 18506893 18785209 20514400 20084675 21159647 18665156 16935385 19394651 16569478 18691550 19539802 19335982 19208518 3581430 16502159 16698587 3084413 19519916 11831363 20101231 19701751 19383236 17055752 10672840 18393292 20512989 17138121 17162532 19107877 16878318 19919837 18788625 18494052 18978308
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7318922899 17687452 15504454
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2418640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.5619152805 17938729 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.4618022660 16973168
MESH:D002386 Cataract Acetaminophen 7.8710977129
MESH:D002386 Cataract Methylnitrosourea 7.8712484553
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.462727394 7505956 17174075 21159647
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 7.462727394 7505956
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8419052882
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0016105132 17333356 17681005 11677210 16919318 15861022 17110522
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D003139 Common Cold Ascorbic Acid 5.7417323712
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003924 Diabetes Mellitus, Type 2 Ascorbic Acid 4.8716506275
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.8720387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8910915739 11743745 18071297 14986274 12705907 19923254 11287661 16393943 16081117 12392966 17522070 16485898 15968718 10774834 19085960 19370779 11421492 11739529 16781746 11529661 12958197 12594235 16177239 12540782 17906064 16227642 14725611 15619225 11461765 18713872 19416960 17562736 16109766 11834606 19739265 2444490 19164858 14550746 12153990 19420014 10663392
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.8919107877
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:C538011 Eales disease Ascorbic Acid 5.749068938
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3412903497
MESH:D005234 Fatty Liver arsenic trioxide 14.1415073043
MESH:D005234 Fatty Liver Diethylnitrosamine 14.1420387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.1415345470
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.4711555667
MESH:D005534 Foot Diseases Arsenic 5.826392382
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005910 Glioma Methylnitrosourea 3.629825942
MESH:D006330 Heart Defects, Congenital Ascorbic Acid 3.8416080930
MESH:D006394 Hemangiosarcoma Pentachlorophenol 5.2215200160
MESH:D006548 Hernia, Diaphragmatic Ascorbic Acid 3.5216490937 16863852
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6217050553
MESH:D006973 Hypertension Arsenic 2.9216076760 11953799 9931084
MESH:D006987 Hypesthesia Arsenic 5.8216093927
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.3117937319
MESH:D007248 Infertility, Male Methylnitrosourea 7.317193160
MESH:D007249 Inflammation Diethylnitrosamine 2.4618785209
MESH:D007642 Keratosis Arsenic 5.2316930632 12749816
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9712560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1616467208 16968895 19850784 20471514 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 8.1417339181
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 8.1417712046 16331271 19075265 16966277 17107899 11161223 16823087 12679006 12712474 15336539 11468182 19035177 15213294 17217047 16891316 16330433 16112521 12018890 9834237 19642359 15622746 15748426 17869043 19225113 17649720
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.3215526292
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9120032147 18665156 18407596 18522880 19638242
MESH:D008107 Liver Diseases Acetaminophen 6.7719014921 12969438 19784758 16611625 19460945 16610002 12587719 11587558
MESH:D008107 Liver Diseases Arsenic 6.7711134558
MESH:D008107 Liver Diseases Diethylnitrosamine 6.7717034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms Arsenic 11.3116368122
MESH:D008113 Liver Neoplasms arsenic trioxide 11.3114682389
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.3119690152 19090486 20101389 10737359 19426721 20492335 18754104 20583210 19073162 19551842 20137499 19427195 19294768 2422723 19812893 19996281 12771043 19256749 18644402 9163691 15175105 20501860 19638242 16942905 18648771 19833225 19254457 19255062 12112319 19642983 18977376 21071580 21278145 2862719 20452335 21047994 19499222 18978307 20434301 20118626 19850985 20405173 15885732 21167192
MESH:D008113 Liver Neoplasms Pentachlorophenol 11.3110696769
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 15.0820377131
MESH:D008114 Liver Neoplasms, Experimental Ascorbic Acid 15.0818544905
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 15.0818544905 18093689 18775883 19126423 18079962 18282651 17854601 19519916 18308698 18253720 19009564 2563599 16267830 17174075 16842330 3124819 21159647 9362446 19539802 19004024 18164116 17942915
MESH:D008114 Liver Neoplasms, Experimental kojic acid 15.0818544905
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.6816080182
MESH:D008171 Lung Diseases Ascorbic Acid 4.0616863852
MESH:D008175 Lung Neoplasms Arsenic 6.8219168569 17306315 17976673
MESH:D008175 Lung Neoplasms arsenic trioxide 6.8211798837 19825857
MESH:D008175 Lung Neoplasms Ascorbic Acid 6.8216401635
MESH:D008175 Lung Neoplasms Diethylnitrosamine 6.8220970405 6695378 21163286 20512841
MESH:D008175 Lung Neoplasms Methylnitrosourea 6.8218062963
MESH:D008223 Lymphoma Methylnitrosourea 8.7711418001 16257854
MESH:D008223 Lymphoma Pentachlorophenol 8.7712669308
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.9514633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 3.6814999141 11751437 16051031 15113128 19196723 10767621 16827153 11807958 14633655 16619500 10838139 15313902 15688392 12931682 17020996 16944150 17131329
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2219417148 14977855 19549372 11468182 15949261
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2316882451 16105982
MESH:D017202 Myocardial Ischemia Arsenic 4.1215371236
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.623581430 9029167
MESH:D009369 Neoplasms Methylnitrosourea 3.3815533788
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.6912696579
MESH:D018301 Neoplasms, Mesothelial Pentachlorophenol 6.9210696769
MESH:D009436 Neural Tube Defects Arsenic 7.8116620997
MESH:D009436 Neural Tube Defects arsenic trioxide 7.8110525206
MESH:D009442 Neurilemmoma Methylnitrosourea 5.7211555667
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.6718514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.6720387270
MESH:D020078 Neurogenic Inflammation Arsenic 4.5617056641
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D009765 Obesity Ascorbic Acid 3.1717217161
MESH:D010051 Ovarian Neoplasms Arsenic 5.1817306315
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.1816624393 19769630 12452020
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 9.0515580305
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 9.0516540662
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 9.0516965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3816093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.236392382 16905509 15371236
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.702563599
MESH:D011471 Prostatic Neoplasms Arsenic 2.7116140617
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.7119131511
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 2.7112376480 15682402
MESH:D011507 Proteinuria Arsenic 4.1921343184
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D011657 Pulmonary Eosinophilia Ascorbic Acid 5.6014606601
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5418172121 18155124
MESH:D012174 Retinitis Pigmentosa Ascorbic Acid 3.3516849425
MESH:D012175 Retinoblastoma Methylnitrosourea 5.7211555667
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012871 Skin Diseases Arsenic 5.456392382 17050553 17453740 19834688 16759981 15952646 16702368 16353154 17938729 18709164 17548696
MESH:D012871 Skin Diseases Ascorbic Acid 5.4518709164
MESH:D012878 Skin Neoplasms Arsenic 3.0817050553 15504454 16251483 19538983 17976673 17029826
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013160 Splenic Neoplasms Pentachlorophenol 6.5710696769
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.5717007042
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.5718456281
MESH:D013274 Stomach Neoplasms Methylnitrosourea 3.5715930296 16257854 18593901
MESH:D013276 Stomach Ulcer Ascorbic Acid 4.0618726076
MESH:D020521 Stroke Ascorbic Acid 4.4316403987 16517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.4711418001
MESH:D013964 Thyroid Neoplasms arsenic trioxide 12.8819014326
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 12.887505956
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 12.887505956 3078959
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.4819322015 18640142 17976673 19429237 11144890 17306315 15987713
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.4811780464 20435036 12845720 12973940
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014652 Vascular Diseases Arsenic 4.9717056641
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D014983 Xeroderma Pigmentosum marker/mechanism
OMIM:610965 XFE PROGEROID SYNDROME marker/mechanism
Pathway ID Pathway Name
REACT:216 DNA Repair
KEGG:03420 Nucleotide excision repair
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27850
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    PA444818Lung Neoplasms
    PA445204Ovarian Neoplasms
    PA445601Osteosarcoma
    Releated drug ID Related drug Name
    PA449014cisplatin
    PA449165cyclophosphamide
    PA449383docetaxel
    PA449412doxorubicin
    PA449552etoposide
    PA128406956fluorouracil
    PA450761paclitaxel
    PA451729topotecan
    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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