AutismKB 2.0

Annotation Detail for UBE2L3


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Basic Information Top
Gene Symbol:UBE2L3 ( E2-F1,L-UBC,UBCH7,UbcM4 )
Gene Full Name: ubiquitin-conjugating enzyme E2L 3
Band: 22q11.21
Quick LinksEntrez ID:7332; OMIM: 603721; Uniprot ID:UB2L3_HUMAN; ENSEMBL ID: ENSG00000185651; HGNC ID: 12488
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05012Parkinson's disease
hsa04120Ubiquitin mediated proteolysis
No data
Pathway IDPathway Name
200187Alpha-synuclein signaling
200174BARD1 signaling events
Pathway IDPathway Name
P00060Ubiquitin proteasome pathway
P00049Parkinson disease
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Celiac Disease
systemic lupus erythematosus
IMMUNE
Desease Name
Celiac disease
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of UBE2L3 mRNAincreases expression 17555576
17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of UBE2L3 mRNAaffects cotreatment|increases expression 17942748
C031280 pyrazole pyrazole results in increased expression of UBE2L3 mRNAincreases expression 17945193
D012643 Selenium Selenium results in increased expression of UBE2L3 mRNAincreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of UBE2L3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of UBE2L3 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in increased expression of UBE2L3 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9316818667 18351453 18855134 19115204 19244106 21138602 18821012 19288272 16202921 19189212 17242785 21152245 16273361 17440819 18629630 19410462 18984771 20135344 19066611 19084267 20005174 17893378 18997820 19189210 18425577 19200415 20065188 16873071 19059307 11161223 19142967 19011961 19103187 19221464 19289846 17049068 18815881 19487384 20544844 20390343 19155303 20859285 15565566 15668708 17261762
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017110522 17681005 17333356 15861022 16105132 16919318 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 8697196 15340226 16354765 15668235
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5520055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5519769572
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury pyrazole 6.7912499123
MESH:D056486 Drug-Induced Liver Injury Selenium 6.7915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.7920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2417893378 19155303 20544844 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.7915345470
MESH:D005234 Fatty Liver Tamoxifen 8.7919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0611294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0616080930
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 8697196 16959395 15340226 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712878042 12200463
MESH:D007251 Influenza, Human Selenium 12.7616624496
MESH:D007251 Influenza, Human Vitamin E 12.7616624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Vitamin E 2.9612488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3118625569
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6218564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6212878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.6216169303
MESH:D008113 Liver Neoplasms Tamoxifen 4.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Tamoxifen 3.5418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5419555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.5411062179
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6815318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.6819196722 11731420 19196723 14580682 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11222880 11399792 11118676
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1915067354
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1915084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D020521 Stroke Vitamin E 3.7716517955
MESH:D013733 Testicular Diseases pyrazole 5.286499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.458653321 17572228 16712894
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:05012 Parkinson's disease
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37137
    • No data
    No data
    Releated drug ID Related drug Name
    PA449092colchicine
    PA449396dopamine
    PA451578tacrolimus
    Drug Bank Top

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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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