AutismKB 2.0

Annotation Detail for PRPF8


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Basic Information Top
Gene Symbol:PRPF8 ( HPRP8,PRP8,PRPC8,RP13 )
Gene Full Name: PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:10594; OMIM: 607300; Uniprot ID:PRP8_HUMAN; ENSEMBL ID: ENSG00000174231; HGNC ID: 17340
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
No data
Desease IDDesease Name
1705Retinitis pigmentosa
1831Prostate cancer
No data
Desease Name
Serum calcium
Desease Name
Retinitis pigmentosa-13
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PRPF8 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PRPF8 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PRPF8 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PRPF8 mRNAincreases expression 17108234
C056933 fumonisin B1 fumonisin B1 results in decreased expression of PRPF8 mRNAdecreases expression 16221962
D019833 Genistein Genistein results in decreased expression of PRPF8 mRNAdecreases expression 16705744
D012643 Selenium Selenium results in increased expression of PRPF8 mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of PRPF8 mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of PRPF8 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PRPF8 mRNAaffects cotreatment|increases expression 17942748
C066340 tolcapone tolcapone binds to PRPF8 proteinaffects binding 19783845
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5314692618
MESH:D000230 Adenocarcinoma Genistein 4.5311473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.6711080934
MESH:D000544 Alzheimer Disease tolcapone 3.3220150427
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Genistein 1.8616541309 16873071 17200150
MESH:D001943 Breast Neoplasms Tamoxifen 1.8620390343 18351453 21152245 19221464 16273361 16873071 18629630 19115204 17242785 19142967 18984771 19189210 19155303 15565566 20005174 16202921 19103187 18855134 18997820 19189212 19487384 20544844 16818667 20859285 19066611 17893378 18821012 17440819 21138602 15668708 19288272 18815881 19244106 19084267 11161223 19011961 19200415 20135344 17261762 19289846 20065188 19410462 17049068 18425577 19059307
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.2216924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.2216924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Genistein 3.4616332659
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0515861022 17681005 17333356 16105132 11677210 16919318 17110522
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915668235 16354765 12621046 15340226 8697196
MESH:D003092 Colitis Selenium 4.0917936198
MESH:D003110 Colonic Neoplasms Genistein 2.3217182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003866 Depressive Disorder tolcapone 4.4711224284 7768276
MESH:D003865 Depressive Disorder, Major tolcapone 5.1210440460
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4916647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4917107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury fumonisin B1 12.7316221962
MESH:D056486 Drug-Induced Liver Injury Selenium 12.7315131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.7315131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.7320420201
MESH:D056486 Drug-Induced Liver Injury tolcapone 12.7316604736 19783845
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.7711455177
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D004714 Endometrial Hyperplasia Genistein 4.9316402032
MESH:D016889 Endometrial Neoplasms Genistein 8.0311473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 8.0319155303 16202921 17893378 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 6.3219578428
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005234 Fatty Liver Tamoxifen 8.5119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005909 Glioblastoma Genistein 3.4016598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure Selenium 3.2117162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly fumonisin B1 9.7716221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.7715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4218606429 8697196 16354765 15340226 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tamoxifen 5.2619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2612200463 12878042
MESH:D007251 Influenza, Human Selenium 4.5716624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.4214714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007676 Kidney Failure, Chronic Selenium 4.1316518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2418625569
MESH:D007938 Leukemia Genistein 3.1318980019 17468513
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Genistein 3.6117823541
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6118564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6112878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.6516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3011884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Genistein 10.8712929590 14578162
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.8715318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.8714580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008654 Mesothelioma Selenium 2.8715107826
MESH:D009203 Myocardial Infarction Genistein 2.9417141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.8417141266
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819196722 19189210 19200415
MESH:D009421 Nervous System Malformations Genistein 10.5616427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.5614600291
MESH:D010024 Osteoporosis Genistein 3.3919401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.3516169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6619005980
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010300 Parkinson Disease tolcapone 3.6719783845 20216409 18328768 8635184 10651109 11746615 19578428 1977408 9591521 9708959 11586115 7566641 16758261 17089403 11432539 20334432 11793426 9333106 8739811 9754991 9305320
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010954 Plasmacytoma Selenium 5.2715087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms Genistein 2.5716925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5718760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5715067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 6.3219578428
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4316712894 8653321 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D014820 Vitiligo tolcapone 5.4710573327
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
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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