AutismKB 2.0

Annotation Detail for TRPS1


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Basic Information Top
Gene Symbol:TRPS1 ( GC79,LGCR,MGC134928 )
Gene Full Name: trichorhinophalangeal syndrome I
Band: 8q23.3
Quick LinksEntrez ID:7227; OMIM: 604386; Uniprot ID:TRPS1_HUMAN; ENSEMBL ID: ENSG00000104447; HGNC ID: 12340
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
1945Papillary cancer
No data
No data
Desease Name
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal syndrome, type I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of TRPS1 mRNAincreases expression 19933214
D000082 Acetaminophen Acetaminophen affects the expression of TRPS1 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of TRPS1 mRNAdecreases expression 20064835
D015741 Metribolone Metribolone results in decreased expression of TRPS1 mRNAdecreases expression 19759027
D014212 Tretinoin Tretinoin results in decreased expression of TRPS1 mRNAdecreases expression 18230668
C025643 vinclozolin vinclozolin affects the expression of TRPS1 mRNAaffects expression 19015723
D002762 Cholecalciferol Cholecalciferol results in decreased expression of TRPS1 mRNAdecreases expression 19759027
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D000505 Alopecia Tretinoin 3.8415955085
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001008 Anxiety Disorders vinclozolin 3.8619015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001169 Arthritis, Experimental Tretinoin 3.2316412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4116456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001327 Autoimmune Diseases Cholecalciferol 5.3916142846
MESH:D001471 Barrett Esophagus Tretinoin 4.7316935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.8916197459 16206674
MESH:D001848 Bone Diseases, Developmental marker/mechanism 19759027
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0820146248 17474063
MESH:D001943 Breast Neoplasms Tretinoin 2.0816443354 16166294 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9916813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6016168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.973084413
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 2.971917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7920419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.7916096774 16051514
MESH:D002386 Cataract Acetaminophen 7.7210977129
MESH:D002386 Cataract Tretinoin 7.7217460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9916129372
MESH:D002822 Choriocarcinoma Tretinoin 5.6016461808
MESH:D002972 Cleft Palate Tretinoin 2.769407595
MESH:D003092 Colitis Tretinoin 4.0617035595
MESH:D019465 Craniofacial Abnormalities marker/mechanism 11708946 19759027
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8310589399 9224671 17551590 9142499 14991402 9125849 9664655 8800419 16925845 9211117
MESH:D003456 Cryptorchidism vinclozolin 4.6714966744
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6519923254 11529661 16081117 11287661 12392966 14550746 16485898 12153990 19164858 11739529 15968718 10663392 19085960 10915739 17522070 12705907 11834606 12540782 15619225 18071297 16177239 18713872 14725611 11743745 16227642 11421492 10774834 11461765 19370779 2444490 17562736 16781746 19416960 12958197 19739265 16109766 12594235 14986274 17906064 16393943 19420014
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004489 Edema, Cardiac Tretinoin 4.9118230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2816569247
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tretinoin 3.7816938888 9664655
MESH:D005355 Fibrosis Tretinoin 3.8717994277
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.3316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.7416417039
MESH:D005909 Glioblastoma Tretinoin 3.1717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6016084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0920471113
MESH:D006330 Heart Defects, Congenital Tretinoin 7.0914991402 9664655
MESH:D006930 Hyperalgesia Acetaminophen 8.3716870215
MESH:D006930 Hyperalgesia Tretinoin 8.3716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9316778211
MESH:D007248 Infertility, Male vinclozolin 3.2116467254
MESH:D007410 Intestinal Diseases Tretinoin 4.1217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1817551590 15992940
MESH:D007674 Kidney Diseases Acetaminophen 2.3415629191 12587719
MESH:D015826 Langer-Giedion Syndrome marker/mechanism 11708946
MESH:D007938 Leukemia Tretinoin 2.8917143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9816932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3216891316 17294898 19035177 17506722 19642359 16788101 17361223 16823087 16766008 17301526 16140955 19029980 9834237 19225113 15748426 12679006 17217047 16935935 17107899 17649720 19075265 17339181 16331271 17712046 17368321
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1316417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.509224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 1.6811587558 19784758 16610002 19014921 12587719 12969438 19460945 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1221137059 20195826
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720064080 18816296 6695378 20464547 18569708 18520028 20135361 17053015 20869020
MESH:D008527 Medulloblastoma Tretinoin 2.8717453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008591 Meningomyelocele Tretinoin 4.7816940565
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2217596541
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3911141357
MESH:D009369 Neoplasms Tretinoin 5.3916594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.119125849
MESH:D009436 Neural Tube Defects Tretinoin 3.229142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4116936753
MESH:D010146 Pain Acetaminophen 7.3716870215
MESH:D010146 Pain Tretinoin 7.3716870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5415976015
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.2919015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.3318220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.4617292933
MESH:D011471 Prostatic Neoplasms Cholecalciferol 3.4617024972
MESH:D011472 Prostatitis vinclozolin 5.3318629315
MESH:D011507 Proteinuria Tretinoin 3.9116636307
MESH:D011625 Pterygium Tretinoin 5.1916723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4016283617 16116481
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0610029692 19755658
MESH:D012878 Skin Neoplasms Tretinoin 6.0616467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.4017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2316026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0516051514
OMIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I marker/mechanism
OMIM:190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III marker/mechanism
MESH:D014376 Tuberculosis Tretinoin 3.3816040207
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2617053015
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9416129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.0516752155
MESH:D014820 Vitiligo Tretinoin 4.3916761959
MESH:D009396 Wilms Tumor Tretinoin 4.2216287080
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


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