AutismKB 2.0

Annotation Detail for TSR1


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Basic Information Top
Gene Symbol:TSR1 ( FLJ10534,KIAA1401,MGC131829 )
Gene Full Name: TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:55720; OMIM: 611214; Uniprot ID:TSR1_HUMAN; ENSEMBL ID: ENSG00000167721; HGNC ID: 25542
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
CARDIOVASCULAR
Aortic root size
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C075773 4-phenylbutyric acid 4-phenylbutyric acid results in decreased expression of TSR1 mRNAdecreases expression 14583596
C006780 bisphenol A bisphenol A results in decreased expression of TSR1 mRNAdecreases expression 20678512
D016572 Cyclosporine Cyclosporine results in increased expression of TSR1 mRNAincreases expression 20106945
D003907 Dexamethasone Dexamethasone results in decreased expression of TSR1 mRNAdecreases expression 12782123
D005472 Fluorouracil Fluorouracil results in decreased expression of TSR1 mRNAdecreases expression 16510598
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of TSR1 mRNAaffects binding|increases activity|increases expression 19710929
D014212 Tretinoin Tretinoin results in decreased expression of TSR1 mRNAdecreases expression 16054129
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4817638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8816434500
MESH:D000505 Alopecia Tretinoin 3.8415955085
MESH:D000740 Anemia Fluorouracil 3.9817963324 15504547 16511603
MESH:D001169 Arthritis, Experimental Dexamethasone 8.0617659584
MESH:D001169 Arthritis, Experimental Tretinoin 8.0616412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4116456186
MESH:D001471 Barrett Esophagus Tretinoin 4.7316935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.9319483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.9316197459 16206674
MESH:D001862 Bone Resorption bisphenol A 4.1411985600
MESH:D001943 Breast Neoplasms bisphenol A 1.9717123778
MESH:D001943 Breast Neoplasms Fluorouracil 1.9716595493 19217205 18357371 15136595 18608205 16557594 16110121
MESH:D001943 Breast Neoplasms Tretinoin 1.9716873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9916813970
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1116051944
MESH:D002277 Carcinoma Fluorouracil 3.7917121937
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6016168501
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2317045692 17971768 18930000 17088986 16799960 16332177
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.231917145
MESH:D002278 Carcinoma in Situ bisphenol A 5.3817123778
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1318695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.9517066447 18986760 16757204 16280240
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9516096774 16051514
MESH:D002386 Cataract Tretinoin 3.2417460283
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7112371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9916129372
MESH:D002779 Cholestasis Cyclosporine 8.4419486331
MESH:D002779 Cholestasis pirinixic acid 8.4419176532
MESH:D002822 Choriocarcinoma Tretinoin 5.6016461808
MESH:D002972 Cleft Palate Tretinoin 2.769407595
MESH:D003092 Colitis Tretinoin 4.0617035595
MESH:D003110 Colonic Neoplasms Dexamethasone 4.0715824018
MESH:D003110 Colonic Neoplasms Fluorouracil 4.0718772588 17172411 17725105 17287894 16510598 17018589 17169374 15001691 16340194 17016597
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018383874 17255274 15289873 18448328 17454858 18288408 16331619 16391804 15148649 18949393 17401013 16282729 18509181 16524972 16303861 20501625 17016601 17094418 14970324 17695437 17594712 18802399
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.8917728286
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.899142499 9211117 16925845 9125849 9664655 14991402 10589399 9224671 17551590 8800419
MESH:D007644 Darier Disease Fluorouracil 5.1916733453
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.7612438553
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003967 Diarrhea Dexamethasone 4.027237001
MESH:D004485 Eczema Dexamethasone 4.7912438553
MESH:D004487 Edema Dexamethasone 7.8619703484
MESH:D004487 Edema pirinixic acid 7.8612083418
MESH:D004489 Edema, Cardiac Tretinoin 4.9118230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2816569247
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5016337965 15173087 16785472 16481741 17638652
MESH:D005124 Eye Abnormalities Tretinoin 3.789664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 8.5119224547
MESH:D005234 Fatty Liver pirinixic acid 8.5119236843 20131406
MESH:D005355 Fibrosis Cyclosporine 9.9112639820 12168785
MESH:D005355 Fibrosis Tretinoin 9.9117994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D005909 Glioblastoma Tretinoin 3.1717312396
MESH:D005910 Glioma Fluorouracil 2.9616145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 8.3915102660 18337622 15162350
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.3916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6016084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.029664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006529 Hepatomegaly pirinixic acid 3.3518467677 19176532 19772884 16221962
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.157520565
MESH:D006930 Hyperalgesia Tretinoin 3.4316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9316778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Cyclosporine 5.6210903974
MESH:D006973 Hypertension Dexamethasone 5.6217042910
MESH:D007249 Inflammation Dexamethasone 3.0011099482 8960868
MESH:D007333 Insulin Resistance bisphenol A 7.8816393666
MESH:D007333 Insulin Resistance pirinixic acid 7.8816306350
MESH:D007410 Intestinal Diseases Tretinoin 4.1217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1815992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4810903974 8314463 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D007680 Kidney Neoplasms Fluorouracil 8.1816985049
MESH:D007938 Leukemia Tretinoin 2.8917143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9816932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3219035177 17361223 15748426 12679006 9834237 17339181 17217047 19029980 16766008 16823087 16331271 16935935 16140955 19642359 17368321 17506722 19225113 17107899 17649720 17294898 17301526 19075265 17712046 16891316 16788101
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.509224671
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 3.6816718785
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6815474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.6818397230 16248980
MESH:D008113 Liver Neoplasms Fluorouracil 4.8216603448 15113037 17045692 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 4.8220007298 15890375 16377806
MESH:D008175 Lung Neoplasms Dexamethasone 2.7911195469 15824018
MESH:D008175 Lung Neoplasms Fluorouracil 2.7915246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1915086387
MESH:D008527 Medulloblastoma Tretinoin 2.8717453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7816940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8418986760 16757204
MESH:D009101 Multiple Myeloma Dexamethasone 3.6915867202 16118317 15744524
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 8.019809623
MESH:D009190 Myelodysplastic Syndromes Tretinoin 8.0117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009369 Neoplasms 4-phenylbutyric acid 12.9619116145
MESH:D009369 Neoplasms Fluorouracil 12.9618600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 12.9617405874
MESH:D009369 Neoplasms Tretinoin 12.9616946489 16594593
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5318481113 19348381
MESH:D009421 Nervous System Malformations bisphenol A 10.9116427766 11399458
MESH:D009421 Nervous System Malformations Tretinoin 10.919125849
MESH:D009436 Neural Tube Defects Tretinoin 3.229142499
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6116436463
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010049 Ovarian Diseases bisphenol A 5.3811985600
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4116936753
MESH:D010146 Pain Tretinoin 3.1316870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.6215113037 16500647 19003803 16929163
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.6215976015
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.6821297632
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.3510548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4920887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3316740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3319082440 18626508
MESH:D011507 Proteinuria Tretinoin 3.9116636307
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011625 Pterygium Tretinoin 5.1916723453
MESH:D011629 Puberty, Precocious bisphenol A 5.1810548101
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2618286688 18722050 16160472 15538739
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 4.3218379247 11700416
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4016283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.7216467112
MESH:D013272 Stomach Diseases Dexamethasone 4.7215472012
MESH:D013274 Stomach Neoplasms Fluorouracil 2.5617522103 15786421 16424979 17172411 16951190 19084572 19015929 17498489 18567086 18396642
MESH:D013274 Stomach Neoplasms Tretinoin 2.5617261132
MESH:D013276 Stomach Ulcer Dexamethasone 3.7615138204
MESH:D019966 Substance-Related Disorders bisphenol A 4.3816045194 16684133
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2316026305 17045167
MESH:D014062 Tongue Neoplasms Fluorouracil 10.7316280240
MESH:D014062 Tongue Neoplasms Tretinoin 10.7316051514
MESH:D014376 Tuberculosis Tretinoin 3.3816040207
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 10.3516803524
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 10.3516129372
MESH:D014591 Uterine Diseases bisphenol A 5.4514652134
MESH:D014604 Uveal Neoplasms Tretinoin 5.0516752155
MESH:D014605 Uveitis Cyclosporine 13.291336536
MESH:D014605 Uveitis Dexamethasone 13.291336536
MESH:D014820 Vitiligo Tretinoin 4.3916761959
MESH:D009396 Wilms Tumor Tretinoin 4.2216287080
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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