AutismKB 2.0

Annotation Detail for PLEKHA5


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Basic Information Top
Gene Symbol:PLEKHA5 ( FLJ10667,FLJ26734,FLJ31492,KIAA1686,PEPP-2,PEPP2 )
Gene Full Name: pleckstrin homology domain containing, family A member 5
Band: 12p12.3
Quick LinksEntrez ID:54477; OMIM: 607770; Uniprot ID:PKHA5_HUMAN; ENSEMBL ID: ENSG00000052126; HGNC ID: 30036
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 PLEKHA5 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PLEKHA5 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PLEKHA5 mRNAdecreases 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 results in decreased expression of PLEKHA5 mRNAdecreases expression 20018196
19150397
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PLEKHA5 mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PLEKHA5 mRNAaffects cotreatment|decreases expression 20360939
C051890 irinotecan irinotecan analog results in decreased expression of PLEKHA5 mRNAdecreases expression 18927307
D012643 Selenium Selenium results in decreased expression of PLEKHA5 mRNAdecreases expression 19244175
D014635 Valproic Acid Valproic Acid results in increased expression of PLEKHA5 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.778875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1319490988
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 7.006695378
MESH:D000236 Adenoma Diethylnitrosamine 7.006695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.1817620307 19052882 17162532 19061943 18056438 16434500
MESH:D000550 Amblyopia Valproic Acid 5.5517688650
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7417497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617507914 18177632 15238991 18558336 18316065 19460635 17157402 18775368 20603192 18940202 18985861 18396377 19232924 16609825 17688650
MESH:D001714 Bipolar Disorder Valproic Acid 3.1720046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.528888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0720146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0717474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.933084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.9320935162 17173139 11831363 17761372 20084675 20101231 10737359 18971187 16807293 19208518 19394651 18494052 16698587 19919837 16540662 16681979 19539802 17978847 19822196 20514400 3084413 18788625 20007298 20432363 19701751 16502159 19052882 16288022 21159647 16328049 20524982 18665156 16779866 17162532 19519916 19383236 19335982 10672840 18785209 18056438 19418558 17055752 18210153 18506893 3581430 16569478 17428255 20727157 18978308 18393292 20512989 17138121 16830150 18691550 19107877 19171122 16878318 20214788 16935385
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1420889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.1417174075 7505956 2727394 21159647
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7720734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8719052882
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D003110 Colonic Neoplasms irinotecan 2.6217725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3616303861 16391804 18509181 17159606 17454858 18259882 15273666
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9016575769 8888407 17688650
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2320387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4316109766 10663392 2444490 12392966 12958197 11529661 17906064 10774834 15968718 16485898 11421492 14725611 18071297 16781746 19739265 17562736 16227642 12705907 19164858 19420014 19923254 19370779 11834606 18713872 11461765 11739529 19416960 14550746 10915739 15619225 16081117 12540782 19085960 12153990 16177239 16393943 14986274 11743745 17522070 12594235 11287661
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.4319107877
MESH:D056486 Drug-Induced Liver Injury Selenium 9.4315131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.431733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004421 Dystonia Valproic Acid 4.271851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.4117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.233922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0320417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.776254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.353659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4416302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5020426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5016530937
MESH:D005234 Fatty Liver Diethylnitrosamine 8.5720387270 21071580
MESH:D005234 Fatty Liver Valproic Acid 8.5719224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.2016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.378888407 18558336
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7520471113
MESH:D006333 Heart Failure Selenium 3.1917162251
MESH:D006849 Hydrocephalus Valproic Acid 5.1517688650
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D007249 Inflammation Diethylnitrosamine 2.4718785209
MESH:D007251 Influenza, Human Selenium 4.5116624496
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.7810783313
MESH:D007674 Kidney Diseases Acetaminophen 6.6012587719 15629191
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.6015369732
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1816294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.1216766008
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9319638242 18665156 18407596 18522880 20032147
MESH:D008107 Liver Diseases Acetaminophen 4.0512587719 12969438 19460945 16611625 11587558 19784758 16610002 19014921
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0517034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7421137059 20195826
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.7415885732 19690152 12112319 19996281 19254457 21167192 18978307 2862719 2422723 19426721 15175105 19427195 19812893 19551842 18648771 21047994 19638242 19256749 20452335 10737359 19850985 9163691 20101389 19642983 20501860 18754104 12771043 16942905 18977376 19073162 20434301 19833225 20118626 18644402 21278145 20583210 20137499 20405173 19294768 19255062 19499222 21071580 19090486 20492335
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.7517854601 18093689 18544905 18282651 21159647 3124819 17174075 19519916 18079962 18308698 16267830 19126423 19004024 18253720 19009564 2563599 19539802 16842330 18775883 9362446 17942915 18164116
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5817228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4220464547 18816296 18520028 6695378 17053015 18569708 20135361 20064080 20869020
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.4220970405 21163286 20512841 6695378
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8815318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008654 Mesothelioma Selenium 2.8615107826
MESH:D008881 Migraine Disorders Valproic Acid 3.3318803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D052016 Mucositis irinotecan 5.2917159606
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.238888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2617596541
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 6.209029167 3581430
MESH:D009362 Neoplasm Metastasis irinotecan 6.2018259882
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2511141357
MESH:D009436 Neural Tube Defects Valproic Acid 3.258888407 16359493
MESH:D009447 Neuroblastoma irinotecan 3.578761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.7618514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.7620387270
MESH:D017599 Neuroectodermal Tumors irinotecan 5.018761367
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4420387270
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4816540662
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.732563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1120603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9417292933
MESH:D019310 Pseudolymphoma Valproic Acid 4.8612752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4019155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8711044598 11738929 3137016 15475178 17978042 16876388 14763951 1511512
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4510029692 19755658
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9419490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8612833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.492093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.4918456281
MESH:D013274 Stomach Neoplasms irinotecan 3.4915723263
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.147505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.5517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.813119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2417053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.908888407
MESH:D014581 Urticaria Acetaminophen 3.2010982225
No data
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  (e.g. CHD8)

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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