AutismKB 2.0

Annotation Detail for NLRP12


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Basic Information Top
Gene Symbol:NLRP12 ( CLR19.3,FCAS2,NALP12,PAN6,PYPAF7,RNO,RNO2 )
Gene Full Name: NLR family, pyrin domain containing 12
Band: 19q13.42
Quick LinksEntrez ID:91662; OMIM: 609648; Uniprot ID:NAL12_HUMAN; ENSEMBL ID: ENSG00000142405; HGNC ID: 22938
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Familial cold autoinflammatory syndrome 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NLRP12 mRNAdecreases expression 20064835
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NLRP12 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0720127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.906695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.8419183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9820146248 17474063
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1520419170
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
OMIM:611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 marker/mechanism
MESH:D005234 Fatty Liver pirinixic acid 3.3120131406 19236843
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8720471113
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7619176532 18467677 19772884 16221962
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.8520195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 4.8520007298 16377806 15890375
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720135361 20464547 18520028 17053015 6695378 18816296 20064080 18569708 20869020
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5716381670
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.5011141357
MESH:D009369 Neoplasms pirinixic acid 5.5017405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5510029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3217053015
Pathway ID Pathway Name
KEGG:04621 NOD-like receptor signaling pathway
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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


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