AutismKB 2.0

Annotation Detail for PNKP


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Basic Information Top
Gene Symbol:PNKP ( MCSZ,PNK )
Gene Full Name: polynucleotide kinase 3'-phosphatase
Band: 19q13.33
Quick LinksEntrez ID:11284; OMIM: 605610; Uniprot ID:PNKP_HUMAN; ENSEMBL ID: ENSG00000039650; HGNC ID: 9154
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2154Adenoma
No data
No data
Desease Name
Microcephaly, seizures, and developmental delaty
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of PNKP mRNAincreases expression 20106945
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PNKP mRNAaffects cotreatment|increases expression 17942748
D011794 Quercetin Quercetin results in increased expression of PNKP mRNAincreases expression 17103110
D012643 Selenium Selenium results in increased expression of PNKP mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PNKP mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in decreased expression of PNKP mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.5717084956
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001260 Ataxia Telangiectasia Quercetin 5.4415336622
MESH:D001327 Autoimmune Diseases Quercetin 4.8219761891
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Quercetin 2.1018628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1020435547
MESH:D002105 Cadmium Poisoning Quercetin 6.0716962696
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Quercetin 2.3019519916 12508355
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.3717234771
MESH:D006332 Cardiomegaly Quercetin 7.3219794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.3218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7312371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Cyclosporine 8.5519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5517333356 11677210 16105132 16919318 17681005 15861022 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2115340226 8697196 16354765 12621046 15668235
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D003110 Colonic Neoplasms Quercetin 2.4616640504 17191121 15741050 19056647 17148506 19440933 11134977
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5520055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5519769572
MESH:D002658 Developmental Disabilities marker/mechanism 20118933
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 4.0019496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D049914 DNA Repair-Deficiency Disorders marker/mechanism 20118933
MESH:D056486 Drug-Induced Liver Injury Selenium 4.0215131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
OMIM:613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 8.6819224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6815345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Cyclosporine 17.3512168785 12639820
MESH:D005355 Fibrosis Quercetin 17.3519474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 17.3520067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D005909 Glioblastoma Quercetin 3.5819804834
MESH:D005910 Glioma Quercetin 3.1517643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0610048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0616080930
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16354765 18606429 16959395 8697196
MESH:D006943 Hyperglycemia Quercetin 4.3411834736 18262572
MESH:D006973 Hypertension Cyclosporine 9.1610903974
MESH:D006973 Hypertension Quercetin 9.1618356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.1618670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007251 Influenza, Human Quercetin 21.9216624496
MESH:D007251 Influenza, Human Selenium 21.9216624496
MESH:D007251 Influenza, Human Vitamin E 21.9216624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007627 Keloid Quercetin 5.3717086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 11.108314463 10903974 18776723
MESH:D007674 Kidney Diseases Quercetin 11.1016962696
MESH:D007674 Kidney Diseases Vitamin E 11.1012488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0012371664
MESH:D007938 Leukemia Quercetin 3.2917468513
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 3.6812741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6812878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.6816169303
MESH:D008113 Liver Neoplasms Quercetin 4.8918980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8916984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.5319519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5312151625
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Quercetin 3.6016280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6011884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 3.6011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9515318939
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D008831 Microcephaly marker/mechanism 20118933
MESH:D009203 Myocardial Infarction Quercetin 3.1019595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury Quercetin 4.0319207477
MESH:D009369 Neoplasms Quercetin 2.9215185748
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D020078 Neurogenic Inflammation Quercetin 4.7117929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.5719495926
MESH:D010051 Ovarian Neoplasms Quercetin 2.8119005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9416965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 10.0712371664
MESH:D011230 Precancerous Conditions Quercetin 10.0719056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms Quercetin 3.3514715546 17292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3515084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012554 Schistosomiasis japonica Quercetin 6.0716862918
MESH:D012640 Seizures marker/mechanism 20118933
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D020521 Stroke Vitamin E 3.7716517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.9016720314
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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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