AutismKB 2.0

Annotation Detail for SMG6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMG6 ( C17orf31,EST1A,KIAA0732,SMG-6 )
Gene Full Name: Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 17p13.3
Quick LinksEntrez ID:23293; OMIM: 610963; Uniprot ID:EST1A_HUMAN; ENSEMBL ID: ENSG00000070366; HGNC ID: 17809
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200072Regulation of Telomerase
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
Aortic root size
Desease Name
Aortic root size
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of SMG6 mRNAincreases expression 19774075
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SMG6 mRNAdecreases expression 20064835
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SMG6 mRNAdecreases expression 17557909
D014810 Vitamin E Vitamin E results in increased expression of SMG6 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4420464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.2020041841 18057881 18218290
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.2019698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.3219483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4916050911
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0019225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.7218974383
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717110522 16105132 17333356 17681005 15861022 16919318 11677210
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4715265979 18218290
MESH:C538011 Eales disease Vitamin E 5.439068938
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Amiodarone 9.2714986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.2715345470
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.2920471113
MESH:D006330 Heart Defects, Congenital Vitamin E 7.2916080930
MESH:D006529 Hepatomegaly Amiodarone 4.3115265979
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8116863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.6914716179
MESH:D006937 Hypercholesterolemia Amiodarone 4.308137927 9751232
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007037 Hypothyroidism Amiodarone 5.0817991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007251 Influenza, Human Vitamin E 4.9416624496
MESH:D007674 Kidney Diseases Vitamin E 3.0012488133
MESH:D008064 Lipidoses Amiodarone 3.7915342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1520195826 21137059
MESH:D008133 Long QT Syndrome Amiodarone 3.8917391786 11989578 15350150
MESH:D008171 Lung Diseases Amiodarone 8.3712587719
MESH:D008171 Lung Diseases Vitamin E 8.3716863852
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.2018516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5118520028 20464547 17053015 20869020 6695378 18569708 20064080 20135361 18816296
MESH:D008175 Lung Neoplasms Vitamin E 2.5111062179
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009181 Mycoses Amiodarone 5.6212754197 17974566
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1117292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1115084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9712832656 11597910 12490602
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.7218724381
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5210029692 19755658
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer Amiodarone 3.7418087811
MESH:D020521 Stroke Vitamin E 3.8416517955
MESH:D013610 Tachycardia Amiodarone 4.8011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.7019225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Amiodarone 5.4819731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.4218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.8211989578 17467628
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
Pathway ID Pathway Name
KEGG:03015 mRNA surveillance pathway
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved