AutismKB 2.0

Annotation Detail for UPF3B


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Basic Information Top
Gene Symbol:UPF3B ( HUPF3B,MRXS14,RENT3B,UPF3X )
Gene Full Name: UPF3 regulator of nonsense transcripts homolog B (yeast)
Band: Xq24
Quick LinksEntrez ID:65109; OMIM: 300298; Uniprot ID:REN3B_HUMAN; ENSEMBL ID: ENSG00000125351; HGNC ID: 20439
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Post-Elongation Processing of the Transcript
Transcription
mRNA Processing
Gene Expression
No data
No data
Pathway IDPathway Name
500866mRNA Splicing - Major Pathway
500928Transport of Mature mRNA derived from an Intron-Containing Transcript
Related Diseases/Disorders Top
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Desease Name
Mental retardation, X-linked, syndromic 14
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of UPF3B mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of UPF3B proteinaffects expression 20106945
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of UPF3B mRNAincreases expression 18687144
D003010 Clorgyline Clorgyline results in increased expression of UPF3B mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in decreased expression of UPF3B mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of UPF3B mRNAaffects binding|decreases expression|increases activity 19710929
D012643 Selenium Selenium results in decreased expression of UPF3B mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of UPF3B mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of UPF3B mRNAaffects expression 18691609
D014810 Vitamin E Vitamin E results in decreased expression of UPF3B mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1916050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1116705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1112619106 21507988 12907637
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 8.2619486331
MESH:D002779 Cholestasis pirinixic acid 8.2619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1816354765 15668235 8697196 15340226 12621046
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5320055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5319769572
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2718551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.5018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Selenium 6.5015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:C538011 Eales disease Vitamin E 5.029068938
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2215322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 8.2519224547
MESH:D005234 Fatty Liver pirinixic acid 8.2519236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9010048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9016080930
MESH:D006333 Heart Failure pirinixic acid 7.3520558911
MESH:D006333 Heart Failure Selenium 7.3517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1416120746 12621046 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7616863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.2914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3618606429 16959395 16354765 15340226 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007251 Influenza, Human Selenium 12.0416624496
MESH:D007251 Influenza, Human Vitamin E 12.0416624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.388314463 18776723 10903974
MESH:D007674 Kidney Diseases Vitamin E 6.3812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5212878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5216169303
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.752125692 15890375 18177683 9163691
MESH:D008113 Liver Neoplasms pirinixic acid 7.7520007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7516984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.218603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2112151625
MESH:D008171 Lung Diseases Vitamin E 3.3116863852
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2817365036
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5114755239
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5119555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.5111062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8815318939
MESH:D038901 Mental Retardation, X-Linked marker/mechanism 17704778
OMIM:300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 marker/mechanism
MESH:D008654 Mesothelioma Asbestos, Crocidolite 6.5716966607 18303189 16166281
MESH:D008654 Mesothelioma Selenium 6.5715107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.1418551238
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.6212819281 16049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.1510923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Clorgyline 3.6319691856
MESH:D011471 Prostatic Neoplasms Vitamin E 3.6315084515
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0915814490 17975199 17322281 17365031
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6618551238
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D020521 Stroke Vitamin E 3.6816517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3516049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.6010091137
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03015 mRNA surveillance pathway
REACT:78 Post-Elongation Processing of the Transcript
KEGG:03013 RNA transport
REACT:1788 Transcription
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394708
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA153626879FG Syndrome
    PA153626883X-linked mental retardation with marfanoid habitus syndrome
    PA444929Mental Retardation
    PA152238066Mental Retardation, X-Linked
    No data
    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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