GeneBe

POLK

DNA polymerase kappa, the group of DNA polymerases

Basic information

Region (hg38): 5:75511845-75609991

Previous symbols: [ "DINB1" ]

Links

ENSG00000122008 ∙ NCBI:51426 ∙ OMIM:605650 ∙ HGNC:9183 ∙ Uniprot:Q9UBT6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLK gene.

  • Malignant tumor of prostate (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLK gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
1
clinvar
1
clinvar
 5
missense
15
clinvar
46
clinvar
1
clinvar
 62
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total 18 0 47 2 1

Highest pathogenic variant AF is 0.0000131487

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLKprotein_codingprotein_codingENST00000241436 1489389
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.47e-130.96012552302221257450.000883
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2884164330.9610.00002035815
Missense in Polyphen77105.440.73031340
Synonymous0.07341421430.9920.000006641522
Loss of Function2.252641.60.6240.00000223533

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001300.00126
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.0004630.000462
European (Non-Finnish)0.001380.00131
Middle Eastern0.00005440.0000544
South Asian0.0009910.000882
Other0.0007250.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. {ECO:0000269|PubMed:10620008, ECO:0000269|PubMed:11024016, ECO:0000269|PubMed:12145297, ECO:0000269|PubMed:12444249, ECO:0000269|PubMed:12952891, ECO:0000269|PubMed:14630940, ECO:0000269|PubMed:15533436, ECO:0000269|PubMed:28297716}.;
Pathway
Fanconi anemia pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Melanoma - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Breast cancer - Homo sapiens (human);Basal cell carcinoma - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Endometrial cancer;Chromosomal and microsatellite instability in colorectal cancer;HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;DNA Double-Strand Break Repair;Homology Directed Repair;Purine metabolism;Pyrimidine metabolism;Translesion synthesis by POLK;Termination of translesion DNA synthesis;Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template;DNA Damage Bypass;Dual Incision in GG-NER;Gap-filling DNA repair synthesis and ligation in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Nucleotide Excision Repair;HDR through Homologous Recombination (HRR) (Consensus)

Recessive Scores

pRec
0.0864

Intolerance Scores

loftool
0.931
rvis_EVS
-0.57
rvis_percentile_EVS
18.9

Haploinsufficiency Scores

pHI
0.139
hipred
Y
hipred_score
0.648
ghis
0.613

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.940

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Polk
Phenotype
homeostasis/metabolism phenotype; cellular phenotype;

Gene ontology

Biological process
DNA replication;DNA repair;transcription-coupled nucleotide-excision repair;nucleotide-excision repair, DNA incision, 5'-to lesion;nucleotide-excision repair, DNA gap filling;cellular response to DNA damage stimulus;translesion synthesis;nucleotide-excision repair, DNA incision;cellular response to UV;error-prone translesion synthesis
Cellular component
nucleus;nucleoplasm;nuclear body;site of DNA damage
Molecular function
damaged DNA binding;DNA-directed DNA polymerase activity;metal ion binding