AutismKB 2.0

Annotation Detail for EFTUD2


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Basic Information Top
Gene Symbol:EFTUD2 ( DKFZp686E24196,FLJ44695,KIAA0031,Snrp116,Snu114,U5-116KD )
Gene Full Name: elongation factor Tu GTP binding domain containing 2
Band: 17q21.31
Quick LinksEntrez ID:9343; OMIM: 603892; Uniprot ID:U5S1_HUMAN; ENSEMBL ID: ENSG00000108883; HGNC ID: 30858
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EFTUD2 mRNAaffects expression 21346803
C075773 4-phenylbutyric acid 4-phenylbutyric acid results in decreased expression of EFTUD2 mRNAdecreases expression 14583596
D000082 Acetaminophen Acetaminophen affects the expression of EFTUD2 mRNAaffects expression 17562736
C103505 AM 251 AM 251 results in decreased expression of EFTUD2 mRNAdecreases expression 16500647
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of EFTUD2 mRNAincreases expression 17879257
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EFTUD2 mRNAaffects expression 17555576
D007657 Ketone Bodies Ketone Bodies results in increased expression of EFTUD2 mRNAincreases expression 16807920
D013629 Tamoxifen Tamoxifen affects the expression of EFTUD2 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3520127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3514692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0617474063 20146248
MESH:D001943 Breast Neoplasms Tamoxifen 2.0619011961 19066611 18629630 17242785 18855134 18984771 18351453 11161223 19487384 20065188 15668708 18821012 15565566 20135344 19084267 16818667 16202921 20005174 19142967 18997820 20544844 21152245 19115204 17261762 19221464 19288272 19189212 19410462 18815881 20859285 17440819 18425577 19155303 16273361 17049068 19103187 17893378 20390343 19189210 19244106 16873071 19289846 19059307 19200415 21138602
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.693084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6916924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.936135515
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0517333356 15861022 11677210 16919318 17110522 16105132 17681005
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3218551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9118551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9110663392 18071297 12594235 16109766 14550746 11739529 19164858 11743745 12540782 19085960 12153990 16081117 16393943 12705907 16485898 11287661 11529661 18713872 17562736 11461765 19370779 11834606 19923254 16177239 2444490 19416960 10774834 16781746 12392966 10915739 12958197 19739265 19420014 17906064 17522070 14986274 16227642 15968718 15619225 14725611 11421492
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1916202921 17893378 19155303 20544844
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005234 Fatty Liver Tamoxifen 8.5114986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7720471113
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tamoxifen 2.4619457130
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.0716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.0718625569
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008107 Liver Diseases Acetaminophen 1.6712969438 11587558 16610002 12587719 19460945 16611625 19784758 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.887678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.8821137059 20195826
MESH:D008113 Liver Neoplasms Tamoxifen 7.8816684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.686135515 2876784 2876786
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4218520028 6695378 17053015 18816296 20064080 18569708 20869020 20464547 20135361
MESH:D008175 Lung Neoplasms Tamoxifen 2.4218625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7614580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.207678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009369 Neoplasms 4-phenylbutyric acid 5.8219116145
MESH:D009369 Neoplasms Benzo(a)pyrene 5.8211141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819200415 19196722 19189210
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6616049721
MESH:D010146 Pain Acetaminophen 7.7716870215
MESH:D010146 Pain AM 251 7.7718987195
MESH:D010190 Pancreatic Neoplasms AM 251 3.9116500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0817292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6918551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4619755658 10029692
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7516049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.7517053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.7517572228 16712894 8653321
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6610091137
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base 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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