GeneBe

POLL

protein-coding

DNA polymerase lambda, the group of DNA polymerases

Gene summary

This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]

MANE transcript

NM_001174084.2

Inheritance

—

ClinVar variants

U:84B:11

Top phenotype

POLL-related disorder

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr10:101,578,882-101,588,270

External References & Databases

Ensembl (ENSG00000166169)NCBI Gene (27343)OMIM (606343)HGNC:9184GenCCUniProt (Q9UGP5)AlphaFoldClinVar (POLL)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~9.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to POLL variants in ClinVar

4 Conditions Cataloged
not specifiedTotal: 89
not providedTotal: 4
POLL-related disorderTotal: 2
EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001174084.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
83
clinvar
9
clinvar
 92
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total008411095
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 177 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001174084.2RefSeqNP_001167555.18MANE Select
ENST00000370162.8EnsemblENSP00000359181.38MANE Select
NM_001174085.2RefSeqNP_001167556.18Standard
NM_001308382.2RefSeqNP_001295311.15Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Base excision repair - Homo sapiens (human)
  • Non-homologous end-joining - Homo sapiens (human)
  • DNA Repair
  • Nonhomologous End-Joining (NHEJ)
  • DNA Double-Strand Break Repair

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

Molecular Function

  • DNA binding
  • DNA-directed DNA polymerase activity
  • metal ion binding
  • 5'-deoxyribose-5-phosphate lyase activity

Cellular Component

  • nucleus
  • nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000370162
Coding exons
8
Length
9389
Individuals with no LoFs
125612
Homozygous LoFs
0
Heterozygous LoFs
136
Defined
125748
p
0.000541
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.5453093370.9160.00001973717
Missense (PolyPhen)102115.220.885251172
Synonymous0.1991251280.9780.000006481204
Loss of Function1.331926.40.7200.00000165266

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000930.00092rare
Latino/Admixed American0.000730.00072rare
Ashkenazi Jewish00.0absent
East Asian0.00130.0013notable
Finnish0.000330.00032rare
European (Non-Finnish)0.000360.00036rare
South Asian0.000630.00062rare
Other0.000820.00081rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec
0.0933

Intolerance Scores

LoFtool
0.993
RVIS EVS
-0.13
RVIS percentile EVS
43.98

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.970

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
Feedback | API | MCP | Annotate VCF | Sitemap | About | Privacy & Terms
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.