GeneBe

POLL

DNA polymerase lambda, the group of DNA polymerases

Basic information

Region (hg38): 10:101578882-101588270

Links

ENSG00000166169 ∙ NCBI:27343 ∙ OMIM:606343 ∙ HGNC:9184 ∙ Uniprot:Q9UGP5 ∙ 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 POLL gene.

  • not_specified (83 variants)
  • not_provided (4 variants)
  • POLL-related_disorder (2 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLL gene is commonly pathogenic or not. These statistics are base on transcript: NM_001174084.2. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
77
clinvar
8
clinvar
 85
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 77 10 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLLprotein_codingprotein_codingENST00000370162 89389
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.58e-100.59112561201361257480.000541
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5453093370.9160.00001973717
Missense in Polyphen102115.220.885251172
Synonymous0.1991251280.9780.000006481204
Loss of Function1.331926.40.7200.00000165266

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001660.00166
Ashkenazi Jewish0.000.00
East Asian0.001310.00131
Finnish0.0003270.000323
European (Non-Finnish)0.0003630.000360
Middle Eastern0.001310.00131
South Asian0.0006270.000621
Other0.0008160.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5'-deoxyribose-5- phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195). {ECO:0000269|PubMed:10887191, ECO:0000269|PubMed:10982892, ECO:0000269|PubMed:11457865, ECO:0000269|PubMed:12809503, ECO:0000269|PubMed:14627824, ECO:0000269|PubMed:15537631, ECO:0000269|PubMed:19806195, ECO:0000269|PubMed:20693240}.;
Pathway
Base excision repair - Homo sapiens (human);Non-homologous end-joining - Homo sapiens (human);DNA Repair;Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;Purine metabolism;Pyrimidine metabolism;DNA-PK pathway in nonhomologous end joining (Consensus)

Recessive Scores

pRec
0.0933

Intolerance Scores

loftool
0.993
rvis_EVS
-0.13
rvis_percentile_EVS
43.98

Haploinsufficiency Scores

pHI
0.630
hipred
Y
hipred_score
0.575
ghis
0.464

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.970

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Poll
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process
double-strand break repair via homologous recombination;DNA replication;base-excision repair, gap-filling;nucleotide-excision repair;double-strand break repair via nonhomologous end joining;somatic hypermutation of immunoglobulin genes;DNA biosynthetic process
Cellular component
nucleus;nucleoplasm
Molecular function
DNA binding;DNA-directed DNA polymerase activity;metal ion binding;5'-deoxyribose-5-phosphate lyase activity