AutismKB 2.0

Annotation Detail for PRPF40A


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Basic Information Top
Gene Symbol:PRPF40A ( FBP-11,FBP11,FLAF1,FLJ20585,FNBP3,HIP-10,HIP10,HYPA,NY-REN-6,Prp40 )
Gene Full Name: PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
Band: 2q23.3
Quick LinksEntrez ID:55660; OMIM: 612941; Uniprot ID:PR40A_HUMAN; ENSEMBL ID: ENSG00000196504; HGNC ID: 16463
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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 PRPF40A mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PRPF40A mRNAaffects expression 21346803
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of PRPF40A mRNAdecreases expression 17606305
C011890 kojic acid kojic acid results in decreased expression of PRPF40A mRNAdecreases expression 16595896
D011374 Progesterone Progesterone results in increased expression of PRPF40A mRNAincreases expression 18037150
D012643 Selenium Selenium results in decreased expression of PRPF40A mRNAdecreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of PRPF40A mRNAaffects expression 14699072
D014810 Vitamin E Vitamin E results in decreased expression of PRPF40A mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.7117868700
MESH:D001930 Brain Injuries Progesterone 4.5615665606 15845082 15380490
MESH:D001943 Breast Neoplasms Progesterone 2.2116175315 15562024 17614352
MESH:D001943 Breast Neoplasms Tamoxifen 2.2115668708 19066611 18855134 19289846 21138602 18629630 19084267 18821012 18351453 17242785 18815881 16273361 16202921 20859285 20544844 20065188 19288272 16873071 20390343 20135344 19115204 16818667 19221464 19155303 19189212 18984771 17049068 11161223 19011961 20005174 17893378 19200415 19487384 19059307 17261762 21152245 19410462 18997820 19189210 18425577 15565566 17440819 19142967 19103187 19244106
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7516705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7516705839
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.936135515
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0517110522 16105132 15861022 11677210 17333356 16919318 17681005
MESH:D003092 Colitis Selenium 4.0917936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.9418551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.9418551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.8017187935
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Selenium 6.6115131321
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 17.0312538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 17.0317692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 17.0319031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1916202921 19155303 20544844 17893378
MESH:D004715 Endometriosis Progesterone 3.9916134523
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005234 Fatty Liver Tamoxifen 8.5114986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1016080930
MESH:D006333 Heart Failure Selenium 3.2117162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.7115869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Progesterone 5.5415869954
MESH:D007249 Inflammation Tamoxifen 5.5419457130
MESH:D007251 Influenza, Human Selenium 12.2516624496
MESH:D007251 Influenza, Human Vitamin E 12.2516624496
MESH:D007674 Kidney Diseases Vitamin E 2.9312488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1316518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.6116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.6116705839
MESH:D007680 Kidney Neoplasms Tamoxifen 13.6118625569
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.5818564211
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.5816169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.817678174
MESH:D008113 Liver Neoplasms Tamoxifen 4.8116684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.652876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental kojic acid 6.6518544905
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D008175 Lung Neoplasms Tamoxifen 2.5518625569
MESH:D008175 Lung Neoplasms Vitamin E 2.5511062179
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.8617203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.8615318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.8611731420 19196722 14580682 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008654 Mesothelioma Selenium 2.8715107826
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.5018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.507678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819200415 19189210 19196722
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.6612819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.6616049721
MESH:D010051 Ovarian Neoplasms Progesterone 2.5816525653 17393432
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010954 Plasmacytoma Selenium 5.2715087411
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2015067354
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2015084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9218045962
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3918551238
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Progesterone 12.0216503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 12.0219457130
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.7716049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7716049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.7717572228 16712894 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.1410091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.1410091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
Pathway ID Pathway Name
KEGG:03040 Spliceosome
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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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