POLI

DNA polymerase iota, the group of DNA polymerases

Basic information

Region (hg38): 18:54269517-54321266

Previous symbols: [ "RAD3OB", "RAD30B" ]

Links

ENSG00000101751 ∙ NCBI:11201 ∙ OMIM:605252 ∙ HGNC:9182 ∙ Uniprot:Q9UNA4 ∙ 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 POLI gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLI gene is commonly pathogenic or not.

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						0
missense			52	2		54
nonsense						0
start loss			2			2
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	55	2	0

Variants in POLI

This is a list of pathogenic ClinVar variants found in the POLI region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-54269605-A-G		not specified	Uncertain significance (Oct 22, 2024)
18-54269613-G-A		not specified	Uncertain significance (Feb 07, 2023)
18-54269655-T-A		not specified	Uncertain significance (Feb 28, 2023)
18-54271431-T-G		not specified	Uncertain significance (Jun 17, 2022)
18-54271452-A-G		not specified	Uncertain significance (Dec 18, 2023)
18-54271456-C-T		not specified	Uncertain significance (May 02, 2024)
18-54271473-G-C		not specified	Uncertain significance (Jul 28, 2021)
18-54273941-A-G		not specified	Uncertain significance (Dec 01, 2022)
18-54273960-C-G		not specified	Uncertain significance (Sep 15, 2021)
18-54273995-T-C		not specified	Uncertain significance (Sep 20, 2023)
18-54273995-T-G		not specified	Uncertain significance (Feb 28, 2023)
18-54274046-G-A		not specified	Uncertain significance (Nov 14, 2023)
18-54274058-C-G		not specified	Uncertain significance (Mar 29, 2022)
18-54274061-G-A		not specified	Uncertain significance (Jul 23, 2024)
18-54274072-A-G		not specified	Uncertain significance (Jun 22, 2023)
18-54277720-A-C		not specified	Uncertain significance (Jul 05, 2023)
18-54280675-C-G		not specified	Uncertain significance (Oct 12, 2024)
18-54280695-C-G		not specified	Uncertain significance (Feb 27, 2024)
18-54280838-C-T		not specified	Uncertain significance (Jan 09, 2024)
18-54280864-C-T		not specified	Uncertain significance (Apr 25, 2022)
18-54280883-A-G		not specified	Uncertain significance (Nov 10, 2024)
18-54280888-A-C		not specified	Uncertain significance (Dec 02, 2022)
18-54282876-G-C		not specified	Uncertain significance (Jul 12, 2022)
18-54283973-A-G		not specified	Uncertain significance (Apr 13, 2022)
18-54283982-A-T		not specified	Uncertain significance (Mar 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLI	protein_coding	protein_coding	ENST00000579534	10	51863

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.18e-8	0.927	125483	0	124	125607	0.000494

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.509	380	353	1.08	0.0000171	4824
Missense in Polyphen		95	93.36	1.0176		1291
Synonymous	-0.328	128	123	1.04	0.00000577	1377
Loss of Function	1.84	16	26.1	0.612	0.00000126	408

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000698	0.000692
Ashkenazi Jewish	0.0000997	0.0000993
East Asian	0.00136	0.00131
Finnish	0.0000944	0.0000925
European (Non-Finnish)	0.000526	0.000511
Middle Eastern	0.00136	0.00131
South Asian	0.00108	0.000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Error-prone 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. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity. {ECO:0000269|PubMed:11013228, ECO:0000269|PubMed:11251121, ECO:0000269|PubMed:11387224, ECO:0000269|PubMed:12410315, ECO:0000269|PubMed:14630940, ECO:0000269|PubMed:15199127, ECO:0000269|PubMed:15254543}.
• Pathway: Fanconi anemia pathway - Homo sapiens (human);DNA Repair;Purine metabolism;Pyrimidine metabolism;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template;DNA Damage Bypass (Consensus)

Recessive Scores

• pRec: 0.200

Intolerance Scores

• loftool: 0.968
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.43

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.482
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.980

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Poli
• Phenotype: neoplasm; hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype; immune system phenotype

Gene ontology

• Biological process: DNA replication;DNA repair;translesion synthesis;error-prone translesion synthesis
• Cellular component: nucleoplasm;nuclear speck;cytoplasmic ribonucleoprotein granule
• Molecular function: damaged DNA binding;DNA-directed DNA polymerase activity;protein binding;metal ion binding