AutismKB 2.0

Annotation Detail for HLA-E


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Basic Information Top
Gene Symbol:HLA-E ( DKFZp686P19218,EA1.2,EA2.1,HLA-6.2,MHC,QA1 )
Gene Full Name: major histocompatibility complex, class I, E
Band: 6p22.1
Quick LinksEntrez ID:3133; OMIM: 143010; Uniprot ID:HLAE_HUMAN; ENSEMBL ID: ENSG00000204592; HGNC ID: 4962
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05332Graft-versus-host disease
hsa04650Natural killer cell mediated cytotoxicity
hsa04145Phagosome
hsa04144Endocytosis
hsa05416Viral myocarditis
hsa05320Autoimmune thyroid disease
hsa05330Allograft rejection
hsa04612Antigen processing and presentation
hsa04514Cell adhesion molecules (CAMs)
hsa04940Type I diabetes mellitus
Pathway IDPathway Name
Signaling in Immune system
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
bone marrow transplantation
graft-versus-host disease
CANCER
nasopharyngeal cancer
IMMUNE
HIV
INFECTION
Desease Name
Type 1 diabetes
Rheumatoid arthritis
Psoriasis
Schizophrenia
Cognitive test performance
Ulcerative colitis
Bone mineral density (spine)
Plasma eosinophil count
Ankylosing spondylitis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C075773 4-phenylbutyric acid 4-phenylbutyric acid results in increased expression of HLA-E mRNAincreases expression 14583596
C006632 arsenic trioxide arsenic trioxide results in decreased expression of HLA-E mRNAdecreases expression 19128835
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 increased expression of HLA-E mRNAincreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of HLA-E mRNAdecreases expression 15336504
D002220 Carbamazepine HLA-E gene SNP affects the susceptibility to Carbamazepineaffects response to substance 16538176
D004391 Dust Dust results in increased expression of HLA-E mRNAincreases expression 17805423
D012643 Selenium Selenium results in increased expression of HLA-E mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of HLA-E mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of HLA-E mRNAincreases expression 20106945
D014501 Uranium Uranium affects the expression of HLA-E mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of HLA-E mRNAaffects expression 15672453
D014635 Valproic Acid Valproic Acid results in increased expression of HLA-E mRNAincreases expression 19101580
D014810 Vitamin E Vitamin E results in increased expression of HLA-E mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Carbamazepine 15.068986270
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.0614514962 15322242 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 15.068875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0119490988
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3011798837 19825857
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000550 Amblyopia Valproic Acid 5.3717688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.6417497229
MESH:D001321 Autistic Disorder Valproic Acid 2.0018177632 17507914 18940202 18558336 19232924 18985861 18396377 15238991 17157402 20603192 18775368 17688650 19460635 18316065 16609825
MESH:D001714 Bipolar Disorder Carbamazepine 7.6817594078 20046352
MESH:D001714 Bipolar Disorder Valproic Acid 7.6817594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.2316206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.1915746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.198888407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7020435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4211589617
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0316050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9616217749 15553829 14691202 11135700 15073043
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0119014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1912490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.7820889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7320734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1312621046 15340226 16354765 8697196 15668235
MESH:D003092 Colitis Selenium 3.8817936198
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 7.4410525206
MESH:D019465 Craniofacial Abnormalities Carbamazepine 7.449014606
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 7.4410048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 7.448888407 17688650 16575769
MESH:D019465 Craniofacial Abnormalities Vitamin E 7.4419769572
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1815213294
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8516285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
OMIM:607208 DRAVET SYNDROME Carbamazepine 5.5511748493
MESH:D004342 Drug Hypersensitivity Carbamazepine 4.4516538176 16538175 15057820 20216337
MESH:D056486 Drug-Induced Liver Injury Carbamazepine 12.2917465707
MESH:D056486 Drug-Induced Liver Injury Selenium 12.2915131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.2915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.2920420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.2919641884 1733752
MESH:D004362 Drug Toxicity Carbamazepine 8.6020216337
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6011462148
MESH:D004421 Dystonia Valproic Acid 4.141851702
MESH:C538011 Eales disease Vitamin E 4.849068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0416714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Carbamazepine 4.8317654737
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004816 Epidermal Necrolysis, Toxic Carbamazepine 5.3516415921 19915237 20485159 16538176 18855540
MESH:D004831 Epilepsies, Myoclonic Carbamazepine 11.5517275665
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 11.553659116 17275665
MESH:D004828 Epilepsies, Partial Carbamazepine 10.8316628512 17116037 15008574
MESH:D004828 Epilepsies, Partial Valproic Acid 10.8316628512 3922381
MESH:D004827 Epilepsy Carbamazepine 7.2017178248 19620853 7988514 821787 18234410 19439326 17465707 20417680 9014606 19700373
MESH:D004827 Epilepsy Valproic Acid 7.2018234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.667562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Carbamazepine 12.067750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 12.067750514
MESH:D004830 Epilepsy, Tonic-Clonic Carbamazepine 11.2815276670 3659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 11.283659116
MESH:D004916 Erythromelalgia Carbamazepine 5.8419549232
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5220426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5212903497
MESH:D005076 Exanthema Carbamazepine 5.5820485159
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver arsenic trioxide 8.1915073043
MESH:D005234 Fatty Liver Valproic Acid 8.1919224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0216575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.238888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0520067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3616904648
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7011294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 6.7016080930
MESH:D006333 Heart Failure Selenium 3.1217162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0012621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7316490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.1114716179
MESH:D006849 Hydrocephalus Valproic Acid 4.9817688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1815340226 18606429 8697196 16354765 16959395
MESH:D020138 Hyperhomocysteinemia Carbamazepine 4.8010459572
MESH:D006965 Hyperplasia Carbamazepine 5.3118773962
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8912200463 12878042
MESH:D007251 Influenza, Human Selenium 11.4116624496
MESH:D007251 Influenza, Human Vitamin E 11.4116624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.3314714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases Vitamin E 2.8512488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.9716518626
MESH:D007938 Leukemia arsenic trioxide 2.8715070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.4216972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4914633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.8419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 3.9516467208 16968895 20471514 17050201 19850784
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 3.9517596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2612712474 12018890 17649720 19225113 9834237 12679006 17107899 16966277 19035177 17217047 19642359 16331271 16112521 15748426 11468182 15336539 15213294 11161223 16891316 15622746 19075265 17869043 17712046 16330433 16823087
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4516882451
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3616169303
MESH:D008113 Liver Neoplasms arsenic trioxide 4.5314682389
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5316984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 5.9720377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9712151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4115213294
MESH:D008171 Lung Diseases Vitamin E 3.2316863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4017228818
MESH:D008175 Lung Neoplasms arsenic trioxide 3.4511798837 19825857
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4519555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.4511062179
MESH:D008180 Lupus Erythematosus, Systemic Carbamazepine 3.5916628512
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1514737004
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8115318939
MESH:D008607 Mental Retardation Carbamazepine 3.759014606
MESH:D008654 Mesothelioma Selenium 2.8215107826
MESH:D008881 Migraine Disorders Valproic Acid 3.2518765137 18803445
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1614977855 19417148 15949261 19549372 11468182
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.118888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8118349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.5616882451 16105982
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.5617596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009224 Myotonia Congenita Carbamazepine 5.5820399394
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0516624393
MESH:D009369 Neoplasms 4-phenylbutyric acid 3.7519116145
MESH:D009421 Nervous System Malformations Carbamazepine 10.2516990009
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.2514600291
MESH:D009436 Neural Tube Defects arsenic trioxide 7.5010525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.5016359493 8888407
MESH:D010018 Osteomalacia Carbamazepine 5.5817016548
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4316624393 19769630 12452020
MESH:D010146 Pain Carbamazepine 4.1015215642
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5515580305
MESH:D010235 Paraganglioma arsenic trioxide 4.2519927285
MESH:D010267 Parapsoriasis marker/mechanism 16538176
MESH:D010267 Parapsoriasis Carbamazepine 5.8016538176
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER Carbamazepine 6.0417145499 17679678
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010954 Plasmacytoma Selenium 5.0215087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011248 Pregnancy Complications Carbamazepine 5.269014606
MESH:D011297 Prenatal Exposure Delayed Effects Carbamazepine 17.099014606
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 17.0911399792 11118676 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 17.0920603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5919131511
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5918760546
MESH:D011471 Prostatic Neoplasms Vitamin E 2.5915084515
MESH:D019310 Pseudolymphoma Carbamazepine 13.0512752131 9591791
MESH:D019310 Pseudolymphoma Valproic Acid 13.0511422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2619155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0516646077
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Carbamazepine 6.5916876388 19414003 9844417 16938433 16180713 9046859 15946322
MESH:D012640 Seizures Valproic Acid 6.5914763951 15475178 1511512 16876388 3137016 11738929 11044598 17978042
MESH:D012871 Skin Diseases Vitamin E 2.4618709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.718532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7116192470
MESH:D012893 Sleep Disorders Carbamazepine 5.2419414003
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8419490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6712833885
MESH:D013262 Stevens-Johnson Syndrome Carbamazepine 5.3119915237 16415921 16538176 20485159 19694795 15057820 18855540
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D020521 Stroke Vitamin E 3.5816517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1519014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0815213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.3717262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.643119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5112973940 20435036 12845720 11780464
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.758888407
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
KEGG:05330 Allograft rejection
KEGG:04612 Antigen processing and presentation
KEGG:05320 Autoimmune thyroid disease
KEGG:04514 Cell adhesion molecules (CAMs)
KEGG:04144 Endocytosis
KEGG:05332 Graft-versus-host disease
KEGG:04650 Natural killer cell mediated cytotoxicity
KEGG:04145 Phagosome
REACT:6900 Signaling in Immune system
KEGG:04940 Type I diabetes mellitus
KEGG:05416 Viral myocarditis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35081
    • No data
    Releated disease ID Related disease Name
    PA443936Drug Hypersensitivity
    PA444109Exanthema
    PA162316739Maculopapular Exanthema
    PA445451Psoriasis
    Releated drug ID Related drug Name
    PA448785carbamazepine
    Drug Bank Top

    Simple Query:


      (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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