AutismKB 2.0

Annotation Detail for POLQ


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Basic Information Top
Gene Symbol:POLQ ( DKFZp781A0112,POLH,PRO0327 )
Gene Full Name: polymerase (DNA directed), theta
Band: 3q13.33
Quick LinksEntrez ID:10721; OMIM: 604419; Uniprot ID:Q59EE4_HUMAN; ENSEMBL ID: ENSG00000051341; HGNC ID: 9186
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of POLQ mRNAdecreases expression 20018196
20382639
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of POLQ geneincreases mutagenesis 16724327
C496197 trans-10,cis-12-conjugated linoleic acid trans-10,cis-12-conjugated linoleic acid results in decreased expression of POLQ mRNAdecreases expression 17951470
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma Ethylnitrosourea 3.946695378
MESH:D001927 Brain Diseases Ethylnitrosourea 5.3314991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.7416436596 15144691 18412241 16651633 16357521
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.9820889678
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.9816003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.8517160924
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.8518357618
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005909 Glioblastoma Ethylnitrosourea 4.1016436596
MESH:D005910 Glioma Ethylnitrosourea 3.6318412241 16357521 16651633
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.3217379185
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.6316019985 17703301 16271038 6695378
MESH:D008223 Lymphoma Ethylnitrosourea 4.2515790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.7015375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7710838139 18041768 10767621
MESH:D008579 Meningioma Ethylnitrosourea 6.8517943659
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 5.0516707424
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.1616003739 17160924 16651423
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.8517160924
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.9015790496
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