AutismKB 2.0

Annotation Detail for POLR3H


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Basic Information Top
Gene Symbol:POLR3H ( KIAA1665,MGC111097,MGC29654,RPC22.9,RPC8 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
Band: 22q13.2
Quick LinksEntrez ID:171568; OMIM: NA; Uniprot ID:RPC8_HUMAN; ENSEMBL ID: ENSG00000100413; HGNC ID: 30349
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00240Pyrimidine metabolism
hsa03020RNA polymerase
hsa04623Cytosolic DNA-sensing pathway
hsa00230Purine metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Transcription
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of POLR3H mRNAaffects expression 21346803
C006253 pirinixic acid pirinixic acid results in increased expression of POLR3H mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7916705839
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.7818551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 2.0618551238 21346803
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver pirinixic acid 3.3119236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7618467677 16221962 19772884 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.4116705839
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 16377806 15890375
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:D009336 Necrosis 2,4-dinitrotoluene 4.7418551238
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.9312819281 16049721
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.8518551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4316049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 5.2010091137
Pathway ID Pathway Name
KEGG:04623 Cytosolic DNA-sensing pathway
KEGG:01100 Metabolic pathways
KEGG:00230 Purine metabolism
KEGG:00240 Pyrimidine metabolism
KEGG:03020 RNA polymerase
REACT:1788 Transcription
Pharmacogenomics Knowledge Base Top
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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