AutismKB 2.0

Annotation Detail for SLC29A4


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Basic Information Top
Gene Symbol:SLC29A4 ( ENT4,FLJ34923,PMAT )
Gene Full Name: solute carrier family 29 (nucleoside transporters), member 4
Band: 7p22.1
Quick LinksEntrez ID:222962; OMIM: 609149; Uniprot ID:S29A4_HUMAN; ENSEMBL ID: ENSG00000164638; HGNC ID: 23097
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Metabolism of nucleotides
Transmembrane transport of small molecules
No data
No data
Pathway IDPathway Name
500224Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of SLC29A4 mRNAincreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of SLC29A4 mRNAaffects expression 17562736
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SLC29A4 mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 11752688 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.258697196 15340226 15668235 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.892444490 19416960 12958197 12392966 16227642 12594235 17562736 11743745 19085960 19420014 16485898 11739529 19370779 12153990 14986274 19164858 16177239 10663392 16393943 18713872 19923254 11461765 16781746 11287661 17522070 17906064 12705907 18071297 15968718 12540782 11834606 10915739 16109766 11529661 14725611 15619225 11421492 14550746 16081117 19739265 10774834
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7716714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.918697196 15340226 16959395 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4215629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.7112969438 19784758 19460945 19014921 16611625 16610002 12587719 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311118676 11399792 11896295 11222880
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
REACT:1698 Metabolism of nucleotides
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134976472
  • No data
    Releated disease ID Related disease Name
    PA443890Diabetes Mellitus, Type 2
    Releated drug ID Related drug Name
    PA450395metformin
    Drug Bank Top

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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