AutismKB 2.0

Annotation Detail for POU3F4


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Basic Information Top
Gene Symbol:POU3F4 ( BRAIN-4,BRN4,DFN3,DFNX2,OTF9 )
Gene Full Name: POU class 3 homeobox 4
Band: Xq21.1
Quick LinksEntrez ID:5456; OMIM: 300039; Uniprot ID:PO3F4_HUMAN; ENSEMBL ID: ENSG00000196767; HGNC ID: 9217
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Deafness
No data
Desease Name
Deafness, X-linked 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of POU3F4 mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POU3F4 mRNAaffects expression 16483693
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of POU3F4 mRNAaffects binding|increases activity|increases expression 19710929
D013974 Thyroxine Thyroxine results in increased expression of POU3F4 mRNAincreases expression 17403546
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D006332 Cardiomegaly Thyroxine 4.2918093424
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.8319486331 9022650
MESH:D002779 Cholestasis pirinixic acid 8.8319176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3511298694 12868966 2524372 14531868 11906362 18759878 8970840 8156756
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0418289764 9022650 18692083 18648102 16192314 11289319 6679447 6482804 7440962 8291058 1440618 9653073 9328219
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005234 Fatty Liver pirinixic acid 3.1919236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly pirinixic acid 3.5518467677 19772884 16221962 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9320007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.756587162 3712494 598648 1399818
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:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:C536424 Progressive hearing loss stapes fixation marker/mechanism
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D013959 Thyroid Diseases Thyroxine 6.3619910387
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.196582329 1399818 3712494 6587162 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
No data
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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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