AutismKB 2.0

Annotation Detail for RFX4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RFX4 ( NYD-SP10 )
Gene Full Name: regulatory factor X, 4 (influences HLA class II expression)
Band: 12q23.3
Quick LinksEntrez ID:5992; OMIM: 603958; Uniprot ID:RFX4_HUMAN; ENSEMBL ID: ENSG00000111783; HGNC ID: 9985
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2045Bipolar disorder
Desease Name
NEUROLOGICAL
Cognitive test performance
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of RFX4 mRNAaffects expression 17562736
D006918 Hydroxyurea Hydroxyurea results in increased mutagenesis of RFX4 geneincreases mutagenesis 16868089
D008770 Methylnitrosourea Methylnitrosourea results in increased mutagenesis of RFX4 geneincreases mutagenesis 16868089
C006253 pirinixic acid pirinixic acid results in increased expression of RFX4 mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1915113128 15688392
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001943 Breast Neoplasms Methylnitrosourea 3.1316253758 14633655 11306469
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 8.2510977129
MESH:D002386 Cataract Methylnitrosourea 8.2512484553
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 4.057505956 2727394
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6716781746 15619225 12540782 11421492 19370779 16177239 10663392 11834606 11529661 17906064 11743745 18071297 16393943 14986274 16485898 19420014 19739265 11287661 17562736 19085960 12153990 12958197 19416960 17522070 11739529 10915739 14725611 12594235 12392966 2444490 11461765 15968718 14550746 16081117 18713872 10774834 12705907 19923254 19164858 16109766 16227642
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D005234 Fatty Liver pirinixic acid 3.1920131406 19236843
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.8611555667
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005910 Glioma Methylnitrosourea 3.699825942
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5519176532 18467677 19772884 16221962
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D007248 Infertility, Male Methylnitrosourea 4.047193160
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007951 Leukemia, Myeloid Hydroxyurea 5.4416532439
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.4815526292
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7012587719 19784758 16610002 12969438 11587558 16611625 19014921 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 1.9316377806 15890375 20007298
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 6.0316080182
MESH:D008175 Lung Neoplasms Methylnitrosourea 2.7018062963
MESH:D008223 Lymphoma Methylnitrosourea 4.2911418001 16257854
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 5.2314633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 3.8110838139 11751437 15113128 15688392 16051031 16944150 14633655 11807958 16827153 15313902 19196723 17131329 12931682 14999141 17020996 16619500 10767621
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms Methylnitrosourea 5.8015533788
MESH:D009369 Neoplasms pirinixic acid 5.8017405874
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 5.0312696579
MESH:D009442 Neurilemmoma Methylnitrosourea 6.1211555667
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 3.4716965848
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 4.0415682402 12376480
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.7018172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 6.1211555667
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.7015930296 16257854 18593901
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.8611418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 4.227505956 3078959
MESH:D014581 Urticaria Acetaminophen 3.4410982225
No data
Pharmacogenomics Knowledge Base Top
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