AutismKB 2.0

Annotation Detail for LRRC8E


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Basic Information Top
Gene Symbol:LRRC8E ( FLJ23420 )
Gene Full Name: leucine rich repeat containing 8 family, member E
Band: 19p13.2
Quick LinksEntrez ID:80131; OMIM: 612891; Uniprot ID:LRC8E_HUMAN; ENSEMBL ID: ENSG00000171017; HGNC ID: 26272
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00085Agammaglobulinemias
Immune system diseases
Primary immunodeficiency
No data
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of LRRC8E proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of LRRC8E mRNAincreases expression 20106945
20064835
D016572 Cyclosporine Cyclosporine results in increased expression of LRRC8E mRNAincreases expression 20106945
D004958 Estradiol Estradiol results in increased expression of LRRC8E mRNAincreases expression 20106945
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of LRRC8E mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of LRRC8E mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5020127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.5011473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9918316065 18177632 20603192 18940202 18985861 17688650 17507914 18775368 15238991 17157402 18558336 16609825 19232924 18396377 19460635
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0320146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 2.0312948864 19861407 17289903 14630087 17261762 17018787 16675129 18497071
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1512907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1516924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.2718566989
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D003928 Diabetic Nephropathies Estradiol 3.7019279558
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.241733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D016889 Endometrial Neoplasms Estradiol 3.1719148513 11473722 18566989
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.5717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0718234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005234 Fatty Liver Cyclosporine 8.8619224547
MESH:D005234 Fatty Liver Valproic Acid 8.8619224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.518888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.5612168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8020471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.0416612254
MESH:D007333 Insulin Resistance Estradiol 3.1616627594 16393666
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.498314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 6.4915618244
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D007680 Kidney Neoplasms Estradiol 8.1815610895
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814716833 14659978
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.8918177683 9163691 15890375 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.8920195826 21137059
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.928603461
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.4914755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4918569708 17053015 18816296 20135361 20464547 20869020 6695378 18520028 20064080
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7416891317 11807958 11408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 5.0019453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5216810080
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 4.0316427766 11399458
MESH:D009436 Neural Tube Defects Valproic Acid 3.328888407 16359493
MESH:D010051 Ovarian Neoplasms Estradiol 2.2919401270
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2120887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0417292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0416740699
MESH:D019310 Pseudolymphoma Valproic Acid 5.0612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9411044598 15475178 1511512 11738929 14763951 17978042 3137016 16876388
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4919755658 10029692
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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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