AutismKB 2.0

Annotation Detail for SACS


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Basic Information Top
Gene Symbol:SACS ( ARSACS,DKFZp686B15167,DNAJC29 )
Gene Full Name: spastic ataxia of Charlevoix-Saguenay (sacsin)
Band: 13q12.12
Quick LinksEntrez ID:26278; OMIM: 604490; Uniprot ID:SACS_HUMAN; ENSEMBL ID: ENSG00000151835; HGNC ID: 10519
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
protein quantitative trait loci
Desease Name
Protein quantitative trait loci
Desease Name
Spastic ataxia, Charlevoix-Saguenay type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of SACS mRNAincreases expression 20406850
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of SACS mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SACS proteinaffects expression 20106945
C006632 arsenic trioxide arsenic trioxide results in increased expression of SACS mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SACS mRNAincreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SACS mRNAdecreases expression 20382639
D016572 Cyclosporine Cyclosporine results in increased expression of SACS mRNAincreases expression 20106945
D004958 Estradiol Estradiol results in increased expression of SACS mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SACS mRNAaffects binding|decreases expression|increases activity 19710929
D012643 Selenium Selenium results in decreased expression of SACS mRNAdecreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of SACS mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.147525203
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma arsenic trioxide 7.2519825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2520127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 7.2511473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6716434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.4716206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4719483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0417474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 2.0414630087 12948864 19861407 16675129 18497071 17289903 17018787 17261762
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4811589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7516705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.7512619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.7511135700 14691202 15073043 16217749 15553829
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7516924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2512490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.7114694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.806135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.8020889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.8012371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 16.8018566989
MESH:D002779 Cholestasis Cyclosporine 8.1019486331
MESH:D002779 Cholestasis pirinixic acid 8.1019176532
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.2815095906
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3512609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7510525206
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.7519769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2415213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.5621346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 6.5621346803
MESH:D056486 Drug-Induced Liver Injury Selenium 6.5615131321
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema pirinixic acid 2.6212083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.0719148513 11473722 18566989
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4020426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.4012903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4016530937
MESH:D005234 Fatty Liver arsenic trioxide 13.9015073043
MESH:D005234 Fatty Liver Cyclosporine 13.9019224547
MESH:D005234 Fatty Liver pirinixic acid 13.9019236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.3212639820 12168785
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4216904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9220471113
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9216080930
MESH:D006333 Heart Failure pirinixic acid 7.2220558911
MESH:D006333 Heart Failure Selenium 7.2217162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006529 Hepatomegaly pirinixic acid 3.1718467677 16221962 19772884 19176532
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 10.7917088409
MESH:D019584 Hot Flashes Vitamin E 10.7914716179
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006973 Hypertension Cyclosporine 2.1410903974
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007333 Insulin Resistance Estradiol 7.4916627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.4916306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Cyclosporine 10.5018776723 8314463 10903974
MESH:D007674 Kidney Diseases Estradiol 10.5015618244
MESH:D007674 Kidney Diseases Vitamin E 10.5012488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.0616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.0612371664
MESH:D007680 Kidney Neoplasms Estradiol 13.0615610895
MESH:D007938 Leukemia arsenic trioxide 2.8915070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9317077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1617050201 16467208 19850784 16968895 20471514
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3016823087 19225113 15622746 16112521 17649720 11161223 16891316 17217047 19075265 17107899 15213294 12679006 17712046 19642359 12712474 16966277 9834237 15748426 16331271 11468182 17869043 15336539 12018890 16330433 19035177
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5116882451
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5415474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5416169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.767678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.762125692 15890375 9163691 18177683
MESH:D008113 Liver Neoplasms arsenic trioxide 14.7614682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.7620195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 14.7615890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.382876786 6135515 2876784
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.388603461
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.3820377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4615213294
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.9814755239
MESH:D008175 Lung Neoplasms arsenic trioxide 4.9811798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9820869020 20135361 18520028 20464547 20064080 6695378 17053015 18569708 18816296
MESH:D008175 Lung Neoplasms Vitamin E 4.9811062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3111408345 16891317 17203775 11807958
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.3115318939
MESH:D020149 Manganese Poisoning Estradiol 4.7019453300
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2014977855 19549372 19417148 11468182 15949261
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2216105982 16882451
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.6116810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.6116411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0518551238 7678174
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1216624393
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0311141357
MESH:D009369 Neoplasms pirinixic acid 5.0317405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4118481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 3.8111399458 16427766
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2010525206
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5716049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 9.5714694615
MESH:D010051 Ovarian Neoplasms arsenic trioxide 4.9619769630 12452020 16624393
MESH:D010051 Ovarian Neoplasms Estradiol 4.9619401270
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5715580305
MESH:D010235 Paraganglioma arsenic trioxide 4.3119927285
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.0419131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0417292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0416740699
MESH:D011471 Prostatic Neoplasms Vitamin E 2.0415084515
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1216646077
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6218551238
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4310029692 19755658
OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE marker/mechanism
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4017007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1919014326
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1515213294
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.5816049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.5812973940 20435036 11780464 12845720
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.5817053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34927
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    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


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