AutismKB 2.0

Annotation Detail for ACTN3


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Basic Information Top
Gene Symbol:ACTN3 ( MGC117002,MGC117005 )
Gene Full Name: actinin, alpha 3
Band: 11q13.2
Quick LinksEntrez ID:89; OMIM: 102574; Uniprot ID:ACTN3_HUMAN; ENSEMBL ID: ENSG00000248746; HGNC ID: 165
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04670Leukocyte transendothelial migration
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05146Amoebiasis
hsa05322Systemic lupus erythematosus
hsa04530Tight junction
hsa04520Adherens junction
hsa04810Regulation of actin cytoskeleton
hsa04510Focal adhesion
Pathway IDPathway Name
Interactions of the immunoglobulin superfamily (IgSF) member proteins
Muscle contraction
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
AGING
NORMALVARIATION
endurance, elite
muscle testing
human elite athletic performance
muscle strength
METABOLIC
muscle phenotypes
aerobic exercise capacity
No data
Desease Name
Sprinting performance
Alpha-actinin-3 deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ACTN3 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ACTN3 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in decreased expression of ACTN3 mRNAdecreases expression 20458559
C006780 bisphenol A bisphenol A results in increased expression of ACTN3 mRNAincreases expression 18180321
D017313 Fenretinide Fenretinide results in decreased expression of ACTN3 mRNAdecreases expression 16467112
C058346 N-(4-methoxyphenyl)retinamide N-(4-methoxyphenyl)retinamide results in decreased expression of ACTN3 mRNAdecreases expression 16467112
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of ACTN3 mRNAdecreases expression 17616710
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.347525203
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000230 Adenocarcinoma arsenic trioxide 4.9611798837 19825857
MESH:D000230 Adenocarcinoma Fenretinide 4.9610697514
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 3.9516206674
MESH:D001862 Bone Resorption bisphenol A 4.1411985600
MESH:D001932 Brain Neoplasms Fenretinide 4.6116187019
MESH:D001943 Breast Neoplasms bisphenol A 2.5617123778
MESH:D001943 Breast Neoplasms Fenretinide 2.5616601279
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6311589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.5115553829 14691202 16217749 15073043 11135700
MESH:D006528 Carcinoma, Hepatocellular Fenretinide 3.5117159502 16270382
MESH:D002278 Carcinoma in Situ bisphenol A 5.3817123778
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.3219014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3812490120
MESH:D002294 Carcinoma, Squamous Cell Fenretinide 3.2416274795
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.7814694615
MESH:D018290 Cervical Intraepithelial Neoplasia Fenretinide 5.8716154183
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.8520501625
MESH:D015179 Colorectal Neoplasms Fenretinide 2.8517273769
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4115095906
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4015213294
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 2.6921346803
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.9112903497
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 4.9115264214 15150132 16510608 15547733 16704527 15878914 15623463 15547721 16805852
MESH:D005234 Fatty Liver arsenic trioxide 3.5715073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5916904648
MESH:D005909 Glioblastoma Fenretinide 4.0616187019
MESH:D007333 Insulin Resistance bisphenol A 3.4616393666
MESH:D007938 Leukemia arsenic trioxide 2.9515070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1716467208 16968895 17050201 19850784 20471514
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3815622746 16966277 9834237 15213294 12712474 12679006 17712046 19225113 17869043 11161223 15336539 16891316 17217047 16823087 15748426 17107899 16330433 11468182 12018890 16112521 16331271 19075265 17649720 19642359 19035177
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6816882451
MESH:D007972 Leukoplakia, Oral Fenretinide 6.4916707609
MESH:D008113 Liver Neoplasms arsenic trioxide 2.4214682389
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.8920377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5615213294
MESH:D008175 Lung Neoplasms arsenic trioxide 1.8711798837 19825857
MESH:D008325 Mammary Neoplasms, Experimental Fenretinide 3.7310697514
MESH:D008545 Melanoma Fenretinide 2.8616270382
MESH:D009062 Mouth Neoplasms Fenretinide 4.5316274795
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2919417148 11468182 15949261 19549372 14977855
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1218349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2816882451 16105982
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2916624393
MESH:D009369 Neoplasms Fenretinide 3.4117353921 15958647
MESH:D009421 Nervous System Malformations bisphenol A 4.3016427766 11399458
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2810525206
MESH:D009472 Neuronal Ceroid-Lipofuscinoses Fenretinide 6.0716303764
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 4.3614694615
MESH:D010049 Ovarian Diseases bisphenol A 5.3811985600
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.4416624393 12452020 19769630
MESH:D010051 Ovarian Neoplasms Fenretinide 5.4416133793
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.8915580305
MESH:D010190 Pancreatic Neoplasms Fenretinide 5.8915580305
MESH:D010235 Paraganglioma arsenic trioxide 4.4719927285
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.3510548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4920887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.6719131511
MESH:D011471 Prostatic Neoplasms bisphenol A 2.6716740699
MESH:D011471 Prostatic Neoplasms Fenretinide 2.6717024972
MESH:D011629 Puberty, Precocious bisphenol A 5.1810548101
MESH:D012162 Retinal Degeneration Fenretinide 4.6016303925
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2916646077
MESH:D012878 Skin Neoplasms Fenretinide 7.1216467112
MESH:D012878 Skin Neoplasms N-(4-methoxyphenyl)retinamide 7.1216467112
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.7017007042
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.7017575124 12958204
MESH:D019966 Substance-Related Disorders bisphenol A 4.3816045194 16684133
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3615213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.7612973940 12845720 20435036 11780464
MESH:D001749 Urinary Bladder Neoplasms Fenretinide 5.7616720286
MESH:D002583 Uterine Cervical Neoplasms Fenretinide 4.8316154183
MESH:D014591 Uterine Diseases bisphenol A 5.4514652134
Pathway ID Pathway Name
KEGG:04520 Adherens junction
KEGG:05146 Amoebiasis
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:04510 Focal adhesion
REACT:23853 Interactions of the immunoglobulin superfamily (IgSF) member proteins
KEGG:04670 Leukocyte transendothelial migration
REACT:17044 Muscle contraction
KEGG:04810 Regulation of actin cytoskeleton
KEGG:05322 Systemic lupus erythematosus
KEGG:04530 Tight junction
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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