AutismKB 2.0

Annotation Detail for POLH


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLH ( FLJ16395,FLJ21978,RAD30,RAD30A,XP-V,XPV )
Gene Full Name: polymerase (DNA directed), eta
Band: 6p21.1
Quick LinksEntrez ID:5429; OMIM: 603968; Uniprot ID:POLH_HUMAN; ENSEMBL ID: ENSG00000170734; HGNC ID: 9181
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
DNA Repair
No data
No data
Pathway IDPathway Name
500036Translesion synthesis by Pol eta
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of DNA repair systems
H00403Disorders of nucleotide excision repair
Genetic disorders
Desease IDDesease Name
1702Skin tumor
1712Yersinia infection
No data
No data
Desease Name
Xeroderma pigmentosum, variant type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of POLH mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of POLH proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of POLH mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1916705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1921507988 12619106 12907637
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.6718551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 2.0618551238 21346803
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3616705839
MESH:D008113 Liver Neoplasms Aflatoxin B1 5.0118177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 5.0121137059 20195826
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.998603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.5114755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5118816296 6695378 18569708 17053015 20464547 18520028 20869020 20135361 20064080
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.6018551238
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8812819281 16049721
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D012640 Seizures 2,4-dinitrotoluene 2.8118551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5419755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4316049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4317053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 5.0610091137
MESH:C536766 Xeroderma pigmentosum, variant type marker/mechanism
Pathway ID Pathway Name
REACT:216 DNA Repair
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved