AutismKB 2.0

Annotation Detail for LRPPRC


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Basic Information Top
Gene Symbol:LRPPRC ( CLONE-23970,GP130,LRP130,LSFC )
Gene Full Name: leucine-rich PPR-motif containing
Band: 2p21
Quick LinksEntrez ID:10128; OMIM: 607544; Uniprot ID:LPPRC_HUMAN; ENSEMBL ID: ENSG00000138095; HGNC ID: 15714
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Leigh syndrome, French-Canadian type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of LRPPRC mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LRPPRC mRNAdecreases expression 20504355
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of LRPPRC mRNAdecreases expression 20018196
D002995 Clofibric Acid Clofibric Acid affects the expression of LRPPRC mRNAaffects expression 17602206
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LRPPRC mRNAaffects cotreatment|increases expression 17942748
D009020 Morphine Morphine results in increased expression of LRPPRC mRNAincreases expression 20144693
C006253 pirinixic acid pirinixic acid results in increased expression of LRPPRC mRNAincreases expression 17426115
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LRPPRC mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3520464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3514692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D002545 Brain Ischemia Morphine 5.4819211983
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8717474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.393084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3311677210 17681005 17333356 16105132 17110522 15861022 16919318
MESH:D002779 Cholestasis pirinixic acid 8.3319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1912621046 15340226 16354765 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003967 Diarrhea Morphine 4.802540324
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7516227642 2444490 18071297 19164858 11461765 14725611 16109766 16781746 19085960 12153990 14986274 11743745 11287661 11529661 12958197 12392966 15968718 11739529 16177239 16485898 12705907 10663392 15619225 19370779 19739265 12594235 17906064 17562736 16081117 18713872 11421492 14550746 19420014 12540782 19416960 16393943 11834606 19923254 10915739 10774834 17522070
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5220426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3615345470
MESH:D005234 Fatty Liver pirinixic acid 8.3620131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8210048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly pirinixic acid 9.3019772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3016120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 18606429 15340226 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:C537004 Leigh syndrome , French Canadian type marker/mechanism 12529507
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719014921 16610002 19460945 11587558 19784758 12587719 12969438 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.3420195826 21137059
MESH:D008113 Liver Neoplasms Clofibric Acid 11.3417602206
MESH:D008113 Liver Neoplasms pirinixic acid 11.3420007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2418816296 6695378 20464547 17053015 18569708 18520028 20064080 20135361 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1711141357
MESH:D009369 Neoplasms pirinixic acid 5.1717405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010146 Pain Acetaminophen 7.7416870215
MESH:D010146 Pain Morphine 7.7416273134 6776300 15215642 20225289 18699797 15275824
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311399792 11222880 11896295 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D015427 Reperfusion Injury Morphine 7.2319211983
MESH:D015427 Reperfusion Injury pirinixic acid 7.2319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2517053015
MESH:D014581 Urticaria Acetaminophen 3.2410982225
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:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
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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