AutismKB 2.0

Annotation Detail for NSD1


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Basic Information Top
Gene Symbol:NSD1 ( ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO )
Gene Full Name: nuclear receptor binding SET domain protein 1
Band: 5q35.3
Quick LinksEntrez ID:64324; OMIM: 606681; Uniprot ID:NSD1_HUMAN; ENSEMBL ID: ENSG00000165671; HGNC ID: 14234
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1812Beckwith-Wiedemann syndrome
2001Mental retardation
2051Leukemia
2124Autistic disorder
2190Attention deficit hyperactivity disorder
Desease Name
congenital anomalies
DEVELOPMENTAL
No data
Desease Name
Weaver syndrome
Leukemia, acute myeloid
Sotos syndrome
Beckwith-Wiedemann syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NSD1 mRNAaffects expression 17562736
D000450 Aldosterone [Aldosterone binds to NR3C2 protein] which binds to NSD1 proteinaffects binding 15761029
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of NSD1 mRNAaffects expression 17331233
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NSD1 mRNAaffects binding|decreases expression|increases activity 19710929
C017947 sodium arsenite sodium arsenite results in increased expression of NSD1 mRNAincreases expression 16014739
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.3115276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.5117306315 16712894
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder marker/mechanism 18001468
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001506 Beckwith-Wiedemann Syndrome marker/mechanism
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.033084413
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.0316507464 17306315 15276417
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4618572023
MESH:D002318 Cardiovascular Diseases Aldosterone 4.9611230374
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.2220056578 19524636
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6619923254 19416960 17562736 16109766 14550746 14725611 2444490 10915739 10774834 11739529 16227642 16781746 14986274 11529661 11834606 12705907 12540782 17906064 19164858 11461765 12594235 16177239 12153990 16081117 18713872 15968718 16393943 12958197 12392966 11743745 15619225 18071297 10663392 19739265 16485898 17522070 19370779 19085960 19420014 11287661 11421492
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D005234 Fatty Liver pirinixic acid 3.1419236843 20131406
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.2216452187
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 16221962 18467677 19772884
MESH:D006689 Hodgkin Disease sodium arsenite 3.4712676792
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007248 Infertility, Male sodium arsenite 3.2115346721 12646999
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007674 Kidney Diseases Acetaminophen 6.5815629191 12587719
MESH:D007674 Kidney Diseases sodium arsenite 6.5820008137
MESH:D015470 Leukemia, Myeloid, Acute marker/mechanism
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6911587558 19784758 12587719 19460945 16610002 19014921 16611625 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.8516377806 20007298 15890375
MESH:D008113 Liver Neoplasms sodium arsenite 4.8516712894 15276417
MESH:D008171 Lung Diseases sodium arsenite 3.4019095001
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.5017365036
MESH:D008175 Lung Neoplasms sodium arsenite 1.9017306315 19931552 17077188 15276417 16712894
MESH:D008545 Melanoma sodium arsenite 2.0719082730 16487513
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008607 Mental Retardation marker/mechanism 12807965
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3018303189 16166281 16966607
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 5.4517405874
MESH:D009369 Neoplasms sodium arsenite 5.4511559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.1520056578
MESH:D009436 Neural Tube Defects sodium arsenite 3.3612854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5215276417 17306315
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3810923243
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2416039940
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1417365031 15814490 17975199 17322281
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012878 Skin Neoplasms sodium arsenite 2.8419524636 18572023
MESH:D058495 Sotos Syndrome marker/mechanism 12807965 14517949 15452385 14571271 15580547 15640245 16188863 18505455 20101679 16232326 18001468 17561922
MESH:D016135 Spinal Dysraphism sodium arsenite 4.0712854658
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.6211723127 16712894 16452187 17306315
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.1111813266
MESH:D014652 Vascular Diseases sodium arsenite 4.9617056641
MESH:C536687 Weaver syndrome marker/mechanism 12807965
Pathway ID Pathway Name
KEGG:00310 Lysine degradation
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  (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