AutismKB 2.0

Annotation Detail for SF3B3


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Basic Information Top
Gene Symbol:SF3B3 ( KIAA0017,RSE1,SAP130,SF3b130,STAF130 )
Gene Full Name: splicing factor 3b, subunit 3, 130kDa
Band: 16q22.1
Quick LinksEntrez ID:23450; OMIM: 605592; Uniprot ID:SF3B3_HUMAN; ENSEMBL ID: ENSG00000189091; HGNC ID: 10770
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SF3B3 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SF3B3 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SF3B3 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of SF3B3 mRNAincreases expression 19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SF3B3 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SF3B3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SF3B3 mRNAaffects cotreatment|increases expression 17942748
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of SF3B3 mRNA]affects reaction|decreases expression 15016801
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SF3B3 mRNAaffects binding|increases activity|increases expression 19710929
D013629 Tamoxifen Tamoxifen affects the expression of SF3B3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SF3B3 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SF3B3 mRNAincreases expression 17942748
D014635 Valproic Acid Valproic Acid results in decreased expression of SF3B3 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1115322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D000230 Adenocarcinoma Fluorouracil 4.4617638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Fluorouracil 9.2315504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.2311748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618940202 17157402 20603192 17507914 18985861 17688650 15238991 19232924 18558336 19460635 18316065 18396377 18775368 16609825 18177632
MESH:D001714 Bipolar Disorder Valproic Acid 3.1520046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.378888407
MESH:D001943 Breast Neoplasms Fluorouracil 1.8518608205 16557594 15136595 16110121 19217205 18357371 16595493
MESH:D001943 Breast Neoplasms Tamoxifen 1.8520859285 18997820 20390343 18425577 19115204 18821012 16873071 19289846 20135344 18855134 21152245 16818667 11161223 17049068 17893378 19066611 21138602 19244106 19200415 16202921 19084267 19487384 19410462 17242785 19189212 16273361 19288272 19142967 20544844 19059307 18351453 20065188 19011961 20005174 19155303 19103187 15668708 18629630 19221464 17440819 19189210 18984771 15565566 17261762 18815881
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 8.6517121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.6516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.1316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.1316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.133084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 9.1317088986 16799960 17971768 16332177 17045692 18930000
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.1316924424
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5318986760 17066447 16757204 16280240
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0320889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1715861022 11677210 17110522 16105132 17333356 16919318 17681005
MESH:D002779 Cholestasis pirinixic acid 8.1719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1616354765 15668235 8697196 15340226 12621046
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2617172411 18772588 17016597 16510598 17287894 15001691 17018589 16340194 17725105 17169374
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018288408 17695437 17401013 20501625 15148649 16391804 16282729 18448328 18509181 16524972 17255274 14970324 16331619 18802399 17454858 17094418 17594712 15289873 17016601 18949393 18383874 16303861
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5210048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5216575769 17688650 8888407
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5021346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5019923254 10915739 19420014 19739265 19164858 16109766 17562736 14725611 19370779 16781746 15619225 16177239 2444490 17906064 12392966 14550746 10774834 11529661 11739529 12958197 12594235 11834606 18713872 12153990 16393943 10663392 17522070 16227642 11743745 16081117 15968718 19085960 16485898 11461765 18071297 19416960 11287661 11421492 14986274 12540782 12705907
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5020420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.501733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1517893378 16202921 20544844 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.183922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6420426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6416785472 15173087 17638652 16337965 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.2415345470
MESH:D005234 Fatty Liver pirinixic acid 20.2420131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 20.2419224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 20.2419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5018337622 15102660 15162350
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly pirinixic acid 8.9916221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9912621046 16120746 15340226
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16354765 15340226 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Tamoxifen 5.1619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 19.0116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 19.0116705839
MESH:D007680 Kidney Neoplasms Fluorouracil 19.0116985049
MESH:D007680 Kidney Neoplasms Tamoxifen 19.0118625569
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D008064 Lipidoses Tamoxifen 3.2715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4815474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.4818564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4812878042
MESH:D008107 Liver Diseases Acetaminophen 1.6611587558 16610002 19460945 16611625 12969438 19014921 19784758 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.867678174
MESH:D008113 Liver Neoplasms Fluorouracil 14.8618383874 17045692 15113037 16603448
MESH:D008113 Liver Neoplasms pirinixic acid 14.8620007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 14.8616684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.8616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.076135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms Fluorouracil 3.4915246190
MESH:D008175 Lung Neoplasms Tamoxifen 3.4918625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4911884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7311731420 19196723 14580682 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3118803445 18765137
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7618986760 16757204
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.157678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009369 Neoplasms Fluorouracil 5.2416928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 5.2417405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619200415 19189210 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.238888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4312819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.4316049721
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7216929163 16500647 15113037 19003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2711896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.2720603192
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2518626508 19082440
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2515067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1618286688 16160472 18722050 15538739
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 10.4918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.4918551238
MESH:D012640 Seizures Valproic Acid 10.493137016 14763951 16876388 17978042 1511512 11044598 15475178 11738929
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017498489 17172411 18567086 16424979 16951190 15786421 19015929 19084572 18396642 17522103
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.6416049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.648653321 16712894 17572228
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
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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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