AutismKB 2.0

Annotation Detail for EPS8L3


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Basic Information Top
Gene Symbol:EPS8L3 ( EPS8R3,FLJ21522,MGC16817 )
Gene Full Name: EPS8-like 3
Band: 1p13.3
Quick LinksEntrez ID:79574; OMIM: NA; Uniprot ID:ES8L3_HUMAN; ENSEMBL ID: ENSG00000198758; HGNC ID: 21297
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
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of EPS8L3 proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of EPS8L3 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EPS8L3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EPS8L3 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EPS8L3 mRNAincreases expression 17557909
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EPS8L3 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EPS8L3 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4711752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9912619106 12907637 21507988
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Cyclosporine 8.7619486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.7616105132 15861022 17681005 17110522 16919318 17333356 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2412621046 15668235 16354765 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Cyclosporine 9.0219224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.0215345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Cyclosporine 10.4212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.4220067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.778697196 16959395 15340226 18606429 16354765
MESH:D006973 Hypertension Cyclosporine 5.3510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3518850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.859163691 18177683 2125692 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8516984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.578603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5712151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.3814755239
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3811884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211222880 11896295 11118676 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
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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