AutismKB 2.0

Annotation Detail for PRICKLE1


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Basic Information Top
Gene Symbol:PRICKLE1 ( EPM1B,FLJ31627,FLJ31937,MGC138902,MGC138903,RILP )
Gene Full Name: prickle homolog 1 (Drosophila)
Band: 12q12
Quick LinksEntrez ID:144165; OMIM: 608500; Uniprot ID:PRIC1_HUMAN; ENSEMBL ID: ENSG00000139174; HGNC ID: 17019
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04310Wnt signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
Desease Name
Heart failure
Desease Name
Epilepsy, progressive myoclonic 1B
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PRICKLE1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PRICKLE1 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PRICKLE1 proteinaffects expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of PRICKLE1 mRNAaffects expression 20382639
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PRICKLE1 mRNAaffects expression 17484886
C024746 tobacco tar tobacco tar results in increased expression of PRICKLE1 mRNAincreases expression 19559774
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2016011737 15700767 16124888 3786805 16097048 16050911 10355542 15673190 18705752 15721981 16192424 16227642
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.893084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.8921507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.8918788625
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.576135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.5720889678
MESH:D002471 Cell Transformation, Neoplastic tobacco tar 12.5719559774
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6316081117 11421492 19085960 12958197 15619225 10663392 17562736 18071297 12594235 17906064 11529661 16781746 16109766 14986274 19420014 10915739 14550746 17522070 19164858 12705907 18713872 11461765 16485898 12153990 12392966 19739265 11739529 11287661 19370779 14725611 11743745 16227642 10774834 19416960 16177239 11834606 2444490 12540782 19923254 16393943 15968718
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.6319085960 2869522 4309450 19336974 9327722 7120509 7440962 7179309 15968718 15027814 21278145 6884620 10915739 3732212 17522070 3786805 6623471 10092053 16177239 11566570 16227642 15998439
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
OMIM:612437 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B marker/mechanism
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.4916045604 15959796 16239168 12795759 12631006 61145 19224547 17595544
MESH:D005355 Fibrosis Carbon Tetrachloride 3.8718705752
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9719900420 19110552
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9916899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5015338365
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2416705839
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9611408273 11903743 16239168 21278145 17334410 16221502 16943688 17157831 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7515959796 17922224 13678700 16638106 17766677 18166357 17900296 14724832 15362042 18472332 12667390 17869086 14716833 15893842 18156304 12389079 18339082 18705752 12445421 17481882 17525996 16015684 12609069 17823541 17976157 14748882 12632512 18006644 12586293 16136751 16011737 15650968 17805973 12632514 18279442 12898905 18395095 20821823 15123356 12445418 16192424 18277467 15338365 17565644 17761835 18472094 15876570 14716496 18205269 15925388 18210741 12666154 12958196 17698563 18263696 18376398 18429990 17944888 17631135 15673190 16248980 18251166 12741479 18054572 16097048 18317297 18187930 18395914 17640975 12649538 10355542 15818738 16027843 18412020 15052691 18481824 16033810 16116963 15996030 15931870 17721639 15057751 17708605 17714472 18418968 17557913 18420326 15730626 11481614 15370692 12546737 14620537 14512876
MESH:D008107 Liver Diseases Acetaminophen 4.1219014921 16610002 19460945 16611625 12969438 11587558 12587719 19784758
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.1215720792 17285989 16246199 15830285 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.4416871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.4416899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 8.057678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 8.052125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 8.0519294768
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.952876786 6135515 2876784
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.958603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.9515583823 12014681
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8814755239
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.3218551238 7678174
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
Pathway ID Pathway Name
KEGG:04310 Wnt signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134906946
  • No data
    Releated disease ID Related disease Name
    PA446925Myoclonic Epilepsies, Progressive
    No data
    Drug Bank Top

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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