AutismKB 2.0

Annotation Detail for SF3A3


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Basic Information Top
Gene Symbol:SF3A3 ( PRP9,PRPF9,SAP61,SF3a60 )
Gene Full Name: splicing factor 3a, subunit 3, 60kDa
Band: 1p34.3
Quick LinksEntrez ID:10946; OMIM: 605596; Uniprot ID:SF3A3_HUMAN; ENSEMBL ID: ENSG00000183431; HGNC ID: 10767
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 SF3A3 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SF3A3 mRNAdecreases expression 20504355
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SF3A3 mRNAaffects cotreatment|increases expression 17942748
D019290 Megestrol Acetate Megestrol Acetate results in increased expression of SF3A3 proteinincreases expression 16939895
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SF3A3 mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in decreased expression of SF3A3 mRNAdecreases expression 16054129
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3920127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000505 Alopecia Tretinoin 3.8715955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.8015885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.8016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3216292516
MESH:D001249 Asthma Tretinoin 2.4216456186
MESH:D001471 Barrett Esophagus Tretinoin 4.7816935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.0416197459 16206674
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8017474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D001943 Breast Neoplasms Tretinoin 1.8016166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.0516813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6816168501
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1216705839
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.121917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8220419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.8216096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D002386 Cataract Tretinoin 3.2617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.0516129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1011677210 17333356 15861022 17110522 16105132 17681005 16919318
MESH:D002822 Choriocarcinoma Tretinoin 5.6816461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.1316354765 12621046 8697196 15340226 15668235
MESH:D002972 Cleft Palate Tretinoin 6.139407595
MESH:D003092 Colitis Tretinoin 4.1217035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5215322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.5217551590 14991402 8800419 9224671 10589399 9125849 9664655 16925845 9211117 9142499
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9518551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.7416714409 15322242 18230668
MESH:D004489 Edema, Cardiac Tretinoin 13.7418230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3016569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.6111564622
MESH:D005124 Eye Abnormalities Tretinoin 9.6116938888 9664655
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.0420067830
MESH:D005355 Fibrosis Tretinoin 10.0417994277
MESH:D005909 Glioblastoma Tretinoin 3.1917312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3816096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6816084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.9420471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.9411294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 11.9414991402 9664655
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716959395 18606429 16354765 8697196 15340226
MESH:D006930 Hyperalgesia Tretinoin 3.4616870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9916778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007410 Intestinal Diseases Tretinoin 4.1817994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.0416580747
MESH:D007569 Jaw Abnormalities Tretinoin 11.0417551590 15992940
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2416705839
MESH:D007938 Leukemia Tretinoin 2.9017143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0216932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1216294345 17596541 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3412679006 17107899 19225113 17217047 16935935 17361223 16891316 16788101 17368321 15748426 17506722 16140955 17301526 17339181 19075265 17712046 19029980 9834237 17649720 16331271 17294898 16766008 16823087 19035177 19642359
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.539224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3816248980 18397230
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6621137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520464547 20869020 18569708 17053015 18816296 20135361 6695378 20064080 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D008527 Medulloblastoma Tretinoin 2.8817453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.8416940565
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2417596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4511141357
MESH:D009369 Neoplasms Tretinoin 5.4516946489 16594593
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.8114600291
MESH:D009421 Nervous System Malformations Tretinoin 10.819125849
MESH:D009436 Neural Tube Defects Tretinoin 3.249142499
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7316049721 12819281
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4216936753
MESH:D010146 Pain Tretinoin 3.1616870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5515976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11118676 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011507 Proteinuria Tretinoin 3.9516636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D011625 Pterygium Tretinoin 5.2616723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4516116481 16283617
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 10.1419755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.1416192470
MESH:D012878 Skin Neoplasms Tretinoin 10.1416467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4120155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.4117261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2617045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0916051514
MESH:D014376 Tuberculosis Tretinoin 3.4116040207
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3116049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3117053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9816129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D014604 Uveal Neoplasms Tretinoin 5.1316752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.4416761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D009396 Wilms Tumor Tretinoin 4.2516287080
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
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  (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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