AutismKB 2.0

Annotation Detail for ELL


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Basic Information Top
Gene Symbol:ELL ( C19orf17,DKFZp434I1916,ELL1,MEN )
Gene Full Name: elongation factor RNA polymerase II
Band: 19p13.11
Quick LinksEntrez ID:8178; OMIM: 600284; Uniprot ID:ELL_HUMAN; ENSEMBL ID: ENSG00000105656; HGNC ID: 23114
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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No data
Pathway IDPathway Name
Elongation arrest and recovery
Pausing and recovery of elongation
Transcription
Gene Expression
HIV Infection
No data
No data
Pathway IDPathway Name
500566RNA Polymerase II Transcription Elongation
500568Formation of RNA Pol II elongation complex
500949RNA Polymerase II Pre-transcription Events
501028HIV-1 elongation arrest and recovery
500917Tat-mediated elongation of the HIV-1 transcript
500957Tat-mediated HIV-1 elongation arrest and recovery
500956Elongation arrest and recovery
500924RNA Polymerase II Transcription
500922Pausing and recovery of elongation
500742Formation of HIV-1 elongation complex in the absence of HIV-1 Tat
500741Formation of HIV-1 elongation complex containing HIV-1 Tat
500735Transcription of the HIV genome
500990Pausing and recovery of Tat-mediated HIV-1 elongation
500871Pausing and recovery of HIV-1 elongation
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of ELL mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of ELL mRNAaffects expression 17562736
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ELL mRNAaffects cotreatment|increases expression 17183730
D020849 Raloxifene Raloxifene results in increased expression of ELL mRNAincreases expression 15849065
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ELL mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.028875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D000419 Albuminuria Raloxifene 5.0417451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.6015800139
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618316065 18940202 17507914 18396377 15238991 19232924 18985861 17157402 18558336 17688650 18177632 19460635 20603192 18775368 16609825
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.2317594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.618888407
MESH:D001930 Brain Injuries Raloxifene 4.9616580743
MESH:D001943 Breast Neoplasms Raloxifene 2.6316912660 17595753 17893378 17440819 15572757 17049068 17952589 15775269 17261762 17242785 15758505 16837676
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.947296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 4.4217572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.6815775269
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.997505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.419022650 19486331
MESH:D003072 Cognition Disorders Raloxifene 5.1015800139
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.908888407 17688650 16575769
MESH:D003865 Depressive Disorder, Major Raloxifene 4.4917474826
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2812868966 8970840 18759878 8156756 2524372 11298694 14531868 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.892952479 3621924
MESH:D003928 Diabetic Nephropathies Raloxifene 4.2615920148 17451421 17308373
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.701440618 18289764 9328219 18692083 6482804 9653073 9022650 11289319 8291058 18648102 6679447 16192314 7440962
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.7019370779 19739265 15619225 11834606 18713872 16227642 11743745 14986274 10774834 16081117 12392966 12958197 16393943 14725611 16485898 16781746 17562736 17522070 14550746 16109766 19420014 11421492 19085960 18071297 19164858 11461765 2444490 19416960 11739529 12705907 12153990 10663392 12594235 17906064 12540782 11529661 19923254 11287661 15968718 10915739 16177239
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.701733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004487 Edema Raloxifene 3.7015860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 4.4415845917
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.533922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.916254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005234 Fatty Liver Raloxifene 9.3017473493
MESH:D005234 Fatty Liver Valproic Acid 9.3019224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.578888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006331 Heart Diseases Raloxifene 3.7711110106
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Raloxifene 2.9715787275 17577099
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1116612254
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D007889 Leiomyoma Raloxifene 4.9016973256
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008107 Liver Diseases Acetaminophen 1.6919014921 12587719 12969438 16610002 19460945 11587558 19784758 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.73598648 3712494 6587162 1399818
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008881 Migraine Disorders Valproic Acid 3.4418803445 18765137
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 6.1715863610
MESH:D009101 Multiple Myeloma Raloxifene 3.6816497877
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D009232 Myxoma Raloxifene 6.1716343187
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.986679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.9816359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.776482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010024 Osteoporosis Raloxifene 3.5917882678 19059307 15775268
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.6315579764 17823083 15758505 17893378
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.3720603192
MESH:D011471 Prostatic Neoplasms Raloxifene 3.5515731164 16536755 16220300
MESH:D019310 Pseudolymphoma Valproic Acid 5.1512752131 11422049
MESH:D011693 Purpura Raloxifene 6.1715770314
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9614763951 15475178 1511512 17978042 16876388 11738929 3137016 11044598
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D020521 Stroke Raloxifene 4.1116837676
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.153712494 6582329 1399818 6587162 7505956
MESH:D013978 Tibial Fractures Raloxifene 5.8219048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.588074119
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.5817572228
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D054556 Venous Thromboembolism Raloxifene 5.8216837676
MESH:D014846 Vulvar Neoplasms Raloxifene 6.1716343187
Pathway ID Pathway Name
REACT:1892 Elongation arrest and recovery
REACT:71 Gene Expression
REACT:6185 HIV Infection
REACT:769 Pausing and recovery of elongation
REACT:1788 Transcription
Pharmacogenomics Knowledge Base Top
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  (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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