AutismKB 2.0

Annotation Detail for SAMM50


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Basic Information Top
Gene Symbol:SAMM50 ( FLJ35825,FLJ42905,FLJ99036,OMP85,SAM50,TOB55,TRG-3,YNL026W )
Gene Full Name: sorting and assembly machinery component 50 homolog (S. cerevisiae)
Band: 22q13.31
Quick LinksEntrez ID:25813; OMIM: 612058; Uniprot ID:SAM50_HUMAN; ENSEMBL ID: ENSG00000100347; HGNC ID: 24276
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
plasma levels of liver enzymes
METABOLIC
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SAMM50 mRNAaffects expression 21346803
D016572 Cyclosporine Cyclosporine results in decreased expression of SAMM50 mRNAdecreases expression 20106945
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of SAMM50 mRNAaffects cotreatment|increases expression 17183730
D007657 Ketone Bodies Ketone Bodies results in increased expression of SAMM50 mRNAincreases expression 16807920
C006253 pirinixic acid pirinixic acid results in increased expression of SAMM50 mRNAincreases expression 18301758
D012643 Selenium [Selenium co-treated with Vitamin E] results in decreased expression of SAMM50 mRNAaffects cotreatment|decreases expression 19244175
D014303 Trinitrotoluene Trinitrotoluene affects the expression of SAMM50 mRNAaffects expression 21346803
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of SAMM50 mRNAaffects cotreatment|increases expression 17183730
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in decreased expression of SAMM50 mRNAaffects cotreatment|decreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 9.777525203
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.778875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1319490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D000550 Amblyopia Valproic Acid 5.5517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9918177632 17507914 18985861 18940202 18775368 19232924 20603192 17688650 15238991 18396377 16609825 18316065 18558336 17157402 19460635
MESH:D001714 Bipolar Disorder Valproic Acid 3.1720046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.528888407
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1916050911
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7816705839
MESH:D002386 Cataract Trinitrotoluene 3.9815817613 14694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7720734317
MESH:D002779 Cholestasis Cyclosporine 8.2619486331
MESH:D002779 Cholestasis pirinixic acid 8.2619176532
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.5815095906
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.7717688650 8888407 16575769
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.7719769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1118551238
MESH:D003490 Cyanosis Trinitrotoluene 12.1118551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Selenium 9.4915131321
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 9.4918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.491733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.271851702
MESH:C538011 Eales disease Vitamin E 5.029068938
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.413659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.2316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0318234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.776426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.353659116
MESH:D005234 Fatty Liver Cyclosporine 14.3019224547
MESH:D005234 Fatty Liver pirinixic acid 14.3020131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 14.3014986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.2016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.378888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.4012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0816080930
MESH:D006333 Heart Failure pirinixic acid 7.3520558911
MESH:D006333 Heart Failure Selenium 7.3517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006529 Hepatomegaly pirinixic acid 9.6318467677 19176532 19772884 16221962
MESH:D006529 Hepatomegaly Trinitrotoluene 9.6315817613
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7616490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.2914716179
MESH:D006849 Hydrocephalus Valproic Acid 5.1517688650
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8816612254
MESH:D007248 Infertility, Male Trinitrotoluene 3.8012150543
MESH:D007251 Influenza, Human Selenium 12.0416624496
MESH:D007251 Influenza, Human Vitamin E 12.0416624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.3818776723 10903974 8314463
MESH:D007674 Kidney Diseases Vitamin E 6.3812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1816294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4315474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4316169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.637678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.6315890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.662876786 2876784 6135515
MESH:D008171 Lung Diseases Vitamin E 3.3116863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5817228818
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8815318939
MESH:D008654 Mesothelioma Selenium 2.8615107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.3318765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.238888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2617596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.6518551238 7678174
MESH:D009336 Necrosis Trinitrotoluene 11.6518551238
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.2516359493 8888407
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.8716049721
MESH:D009784 Occupational Diseases Trinitrotoluene 9.8714694615 12819281 17852074
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1120603192
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2715084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.8611422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4019155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures 2,6-dinitrotoluene 10.7418551238
MESH:D012640 Seizures Trinitrotoluene 10.7418551238
MESH:D012640 Seizures Valproic Acid 10.7416876388 11738929 14763951 17978042 11044598 3137016 15475178 1511512
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9419490988
MESH:D013163 Splenomegaly Trinitrotoluene 5.4615817613
MESH:D013226 Status Epilepticus Valproic Acid 4.8612833885
MESH:D020521 Stroke Vitamin E 3.6816517955
MESH:D014178 Translocation, Genetic Valproic Acid 5.5517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.813119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3516049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.908888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
No data
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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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