NEIL1

Chr 15

nei like DNA glycosylase 1

Also known as: FPG1, NEI1, hFPG1

NCBI Gene: 79661 ENSG00000140398 UniProt: Q96FI4

This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.01LOEUF

pLI 0.000

Z-score 1.53

OE 0.64 (0.41–1.01)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.26Z-score

OE missense 1.05 (0.94–1.16)

259 obs / 247.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.64 (0.41–1.01)

0≤0.351.4

Missense OE?1.05 (0.94–1.16)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 13 / 20.5Missense obs/exp: 259 / 247.5Syn Z: -1.56

Background carrier burden — how many people carry a rare variant somewhere in NEIL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 74

588 rare PASS variants

Rare truncating (LoF)

1 in 1,000

107 rare PASS variants

Rare synonymous (reference)

1 in 240

270 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NEIL1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 380
South Asian	~43k	1 in 82	1 in 390
Remaining (unassigned)	~30k	1 in 74	1 in 1,100
European (Finnish)	~27k	1 in 290	1 in 2,400
Admixed American	~22k	1 in 120	1 in 980
African / African American	~21k	1 in 96	1 in 500
East Asian	~20k	1 in 110	1 in 510
Ashkenazi Jewish	~13k	1 in 350	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 78	1 in 290

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓