AutismKB 2.0

Annotation Detail for EPPK1


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Basic Information Top
Gene Symbol:EPPK1 ( EPIPL,EPIPL1 )
Gene Full Name: epiplakin 1
Band: 8q24.3
Quick LinksEntrez ID:83481; OMIM: 607553; Uniprot ID:EPIPL_HUMAN; ENSEMBL ID: ; HGNC ID: 15577
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
D000082 Acetaminophen Acetaminophen affects the expression of EPPK1 mRNAaffects expression 17562736
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 EPPK1 mRNAdecreases expression 19150397
20018196
D005472 Fluorouracil Fluorouracil results in increased expression of EPPK1 mRNAincreases expression 16510598
C051890 irinotecan irinotecan analog results in increased expression of EPPK1 mRNAincreases expression 18927307
C406082 monomethylarsonous acid monomethylarsonous acid results in decreased expression of EPPK1 mRNAdecreases expression 20024957
C006253 pirinixic acid pirinixic acid results in decreased expression of EPPK1 mRNAdecreases expression 17426115
C006253 pirinixic acid pirinixic acid results in increased expression of EPPK1 mRNAincreases expression 18445702
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4817638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000740 Anemia Fluorouracil 4.0215504547 16511603 17963324
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001943 Breast Neoplasms Fluorouracil 2.4415136595 18608205 19217205 18357371 16595493 16110121 16557594
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1916051944
MESH:D002277 Carcinoma Fluorouracil 3.8217121937
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.063084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.0618930000 17971768 17045692 16799960 16332177 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1418695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5616757204 18986760 17066447 16280240
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.7720889678
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 7.7719716837
MESH:D054506 Chloracne marker/mechanism 17101203
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003110 Colonic Neoplasms Fluorouracil 4.1216340194 16510598 17169374 17725105 15001691 17016597 18772588 17018589 17172411 17287894
MESH:D003110 Colonic Neoplasms irinotecan 4.1217725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7916391804 18802399 14970324 18448328 17255274 16524972 18949393 20501625 18288408 17695437 17094418 18383874 18509181 17454858 16303861 15148649 17594712 17401013 15289873 16331619 17016601 16282729
MESH:D015179 Colorectal Neoplasms irinotecan 2.7917454858 17159606 16303861 16391804 15273666 18259882 18509181
MESH:D007644 Darier Disease Fluorouracil 5.2516733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6516485898 10663392 16177239 10915739 10774834 11287661 19923254 12705907 14550746 11529661 19164858 17906064 12392966 17522070 18713872 11461765 19085960 18071297 12153990 16109766 15968718 16227642 12540782 19416960 19370779 11834606 16393943 16081117 2444490 14986274 11743745 19739265 12594235 16781746 11739529 12958197 15619225 14725611 19420014 11421492 17562736
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.7320426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7315173087 17638652 16337965 16481741 16785472
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005910 Glioma Fluorouracil 2.9716145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5918337622 15162350 15102660
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4119176532 19772884 18467677 16221962
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3612587719 15629191
MESH:D007680 Kidney Neoplasms Fluorouracil 3.5716985049
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 11587558 19460945 16611625 19014921 16610002 19784758 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms Fluorouracil 4.8616603448 15113037 18383874 17045692
MESH:D008113 Liver Neoplasms pirinixic acid 4.8615890375 20007298 16377806
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.2515086387
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8716757204 18986760
MESH:D052016 Mucositis irinotecan 5.4717159606
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009362 Neoplasm Metastasis irinotecan 3.2718259882
MESH:D009369 Neoplasms Fluorouracil 5.4418600527 16928823 18239605
MESH:D009369 Neoplasms pirinixic acid 5.4417405874
MESH:D009447 Neuroblastoma irinotecan 3.628761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D017599 Neuroectodermal Tumors irinotecan 5.198761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6416436463
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7516500647 16929163 15113037 19003803
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3618626508 19082440
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3016160472 15538739 18722050 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012871 Skin Diseases monomethylarsonous acid 3.4417431481
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7716951190 18396642 19015929 15786421 17172411 19084572 18567086 16424979 17498489 17522103
MESH:D013274 Stomach Neoplasms irinotecan 2.7715723263
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2916280240
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 3.5420375083
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1816803524
No data
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Syndromic Genes

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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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