AutismKB 2.0

Annotation Detail for RUSC1


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Basic Information Top
Gene Symbol:RUSC1 ( DKFZp761A1822,NESCA )
Gene Full Name: RUN and SH3 domain containing 1
Band: 1q22
Quick LinksEntrez ID:23623; OMIM: NA; Uniprot ID:RUSC1_HUMAN; ENSEMBL ID: ENSG00000160753; HGNC ID: 17153
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200182Trk receptor signaling mediated by the MAPK pathway
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of RUSC1 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of RUSC1 mRNAdecreases expression 20106945
C006253 pirinixic acid pirinixic acid results in increased expression of RUSC1 mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002779 Cholestasis Cyclosporine 8.8619486331
MESH:D002779 Cholestasis pirinixic acid 8.8619176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6819370779 15619225 10774834 15968718 17562736 19085960 12153990 19164858 11743745 12705907 14725611 10915739 19739265 17522070 16781746 16227642 19416960 16081117 10663392 12958197 14550746 18071297 11529661 12594235 18713872 2444490 11461765 16109766 16485898 14986274 11739529 19420014 12540782 17906064 16393943 11421492 12392966 19923254 11287661 16177239 11834606
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D005234 Fatty Liver Cyclosporine 9.2119224547
MESH:D005234 Fatty Liver pirinixic acid 9.2119236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.7912168785 12639820
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.6416221962 19772884 18467677 19176532
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Acetaminophen 6.5512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.558314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7111587558 16611625 19014921 19784758 19460945 12969438 16610002 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 1.9420007298 16377806 15890375
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
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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