AutismKB 2.0

Annotation Detail for PLEKHA4


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Basic Information Top
Gene Symbol:PLEKHA4 ( PEPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Band: 19q13.33
Quick LinksEntrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PLEKHA4 mRNAaffects expression 21346803
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PLEKHA4 mRNAaffects cotreatment|increases expression 18164116
D004041 Dietary Fats Dietary Fats results in increased expression of PLEKHA4 mRNAincreases expression 18042831
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PLEKHA4 mRNAaffects cotreatment|increases expression 18164116
C041786 palm oil palm oil results in increased expression of PLEKHA4 mRNAincreases expression 18042831
D018038 Sodium Selenite Sodium Selenite results in decreased expression of PLEKHA4 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma beta-Naphthoflavone 7.4419389873
MESH:D000236 Adenoma Diethylnitrosamine 7.446695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.3619061943 18056438 16434500 17162532 19052882 17620307
MESH:D001161 Arteriosclerosis Dietary Fats 4.3115238619
MESH:D001943 Breast Neoplasms Dietary Fats 2.1520435547
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1517474063
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1116705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1120214788 19539802 20101231 18785209 16540662 17978847 16935385 20084675 16830150 17428255 16698587 18393292 18494052 16328049 19208518 18506893 10737359 20727157 18691550 3084413 19822196 19919837 16779866 16502159 19418558 19701751 19383236 18788625 20512989 19394651 21159647 19519916 20432363 19052882 18971187 18210153 20524982 16878318 18056438 19335982 17162532 20514400 18665156 16807293 11831363 20935162 16681979 16288022 20007298 17173139 10672840 17761372 18978308 19171122 17055752 17138121 19107877 3581430 16569478
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.062727394 7505956 21159647 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.9719052882
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.7318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.7319107877
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.7315131321
MESH:D050171 Dyslipidemias Dietary Fats 3.6718367378
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.6416302075
MESH:D005234 Fatty Liver Dietary Fats 8.9617967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver Diethylnitrosamine 8.9620387270 21071580
MESH:D005355 Fibrosis Dietary Fats 3.9418296743
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9221332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.9721332399
MESH:D007249 Inflammation Dietary Fats 5.5920412841
MESH:D007249 Inflammation Diethylnitrosamine 5.5918785209
MESH:D007333 Insulin Resistance Dietary Fats 8.1311836018 18457598
MESH:D007333 Insulin Resistance Sodium Selenite 8.1314714311
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2416705839
MESH:D008103 Liver Cirrhosis Dietary Fats 7.1518296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.1518407596 18522880 19638242 18665156 20032147
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1617034775
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 5.1021295105 19389873
MESH:D008113 Liver Neoplasms Diethylnitrosamine 5.1012112319 20434301 19294768 19996281 21047994 18648771 9163691 19427195 20452335 16942905 21278145 18977376 19426721 19551842 19499222 20118626 20405173 19642983 19256749 15175105 20492335 20501860 19638242 19090486 19812893 15885732 10737359 20583210 12771043 21167192 20137499 19255062 18754104 2862719 19833225 18978307 18644402 19073162 19690152 2422723 19850985 21071580 19254457 20101389
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 6.7518164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.7517854601 16267830 9362446 19009564 18282651 19539802 17174075 18775883 18253720 18079962 19004024 3124819 18308698 17942915 18093689 18544905 19126423 18164116 2563599 16842330 19519916 21159647
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.766695378 21163286 20970405 20512841
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.673581430 9029167
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.6420387270
MESH:D009765 Obesity Dietary Fats 2.3418457598 18674790 20518802 19632207 11836018 17217161 20132043 21332399 16723640
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7316049721 12819281
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5116540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.842563599
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.227505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3816049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D015430 Weight Gain Dietary Fats 4.0216723640
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01863 - Inositol 1,3,4,5-Tetrakisphosphate
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