PCLAF

Chr 15

PCNA clamp associated factor

Also known as: KIAA0101, L5, NS5ATP9, OEATC, OEATC-1, OEATC1, PAF, PAF15

NCBI Gene: 9768 ENSG00000166803 UniProt: Q15004 OMIM: 610696

Enables chromatin binding activity and molecular adaptor activity. Involved in several processes, including centrosome cycle; response to UV; and translesion synthesis. Located in centrosome; nucleus; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.02LOEUF

pLI 0.163

Z-score 1.56

OE 0.32 (0.13–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.46Z-score

OE missense 0.83 (0.66–1.06)

49 obs / 58.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.32 (0.13–1.02)

0≤0.351.4

Missense OE?0.83 (0.66–1.06)

0≤0.61.4

Synonymous OE?0.64

0≤1.21.6

LoF obs/exp: 2 / 6.2Missense obs/exp: 49 / 58.8Syn Z: 1.32

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 510

155 rare PASS variants

Rare truncating (LoF)

1 in 7,800

28 rare PASS variants

Rare synonymous (reference)

1 in 2,400

49 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PCLAF. 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 890	1 in 10,000
South Asian	~43k	1 in 360	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 320	≈ 1 in 9,600
European (Finnish)	~27k	1 in 1,600	≈ 1 in 17,000
Admixed American	~22k	1 in 470	none seen
African / African American	~21k	1 in 360	1 in 1,500
East Asian	~20k	1 in 380	≈ 1 in 6,400
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,884	1 in 410	none seen

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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓