AutismKB 2.0

Annotation Details for POLH


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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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005829IDA-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0003684IEA-damaged DNA binding-
GO:0003887TAS-DNA-directed DNA polymerase activity-
GO:0005515IPI-protein binding16763556
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0000731IDA-DNA synthesis involved in DNA repair17563354
GO:0006260IEA-DNA replication-
GO:0006281TAS-DNA repair10871396
GO:0006282TAS-regulation of DNA repair10398605
GO:0006290IEA-pyrimidine dimer repair-
GO:0010225IDA-response to UV-C17563354
GO:0019985TAS-translesion synthesis-
GO:0070987TAS-error-free translesion synthesis-
GO:0071494IEA-cellular response to UV-C-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
POLHPCNA11114211585903 15149598 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
POLHPCNA11142511585903 15149598 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
UBCPOLH11316416357261 Affinity Capture-Western; Reconstituted Complex
UBCPOLH11142516357261 Affinity Capture-Western; Reconstituted Complex
TUBA1BPOLH11565116824193 Affinity Capture-MS
TUBA1BPOLH11142516824193 Affinity Capture-MS
TUBBPOLH12844416824193 Affinity Capture-MS
TUBBPOLH11142516824193 Affinity Capture-MS
REV1POLH11955116824193 Affinity Capture-MS; Affinity Capture-Western
REV1POLH11142516824193 Affinity Capture-MS; Affinity Capture-Western
RAD18POLH12121216824193 Affinity Capture-MS; Affinity Capture-Western
RAD18POLH11142516824193 Affinity Capture-MS; Affinity Capture-Western
UBE2BPOLH11316816824193 Affinity Capture-MS; Affinity Capture-Western
UBE2BPOLH11142516824193 Affinity Capture-MS; Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1891457
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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


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