POU2AF1

Chr 11

POU class 2 homeobox associating factor 1

Also known as: BOB1, OBF-1, OBF1, OCAB

NCBI Gene: 5450 ENSG00000110777 UniProt: Q16633 OMIM: 601206

Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Limited · agammaglobulinemia · AR · ClinGen 2022

not for standalone diagnostic reporting

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

0.57

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.57LOEUF

pLI 0.566

Z-score 2.53

OE 0.18 (0.07–0.57)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.95Z-score

OE missense 0.78 (0.68–0.91)

120 obs / 153.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.18 (0.07–0.57)

0≤0.351.4

Missense OE?0.78 (0.68–0.91)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 2 / 11.1Missense obs/exp: 120 / 153.1Syn Z: -1.14

Background carrier burden — how many people carry a rare variant somewhere in POU2AF1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 310

321 rare PASS variants

Rare truncating (LoF)

1 in 8,100

25 rare PASS variants

Rare synonymous (reference)

1 in 160

186 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for POU2AF1. 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 360	1 in 11,000
South Asian	~43k	1 in 190	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 260	≈ 1 in 10,000
European (Finnish)	~27k	1 in 410	1 in 2,400
Admixed American	~22k	1 in 260	1 in 3,200
African / African American	~21k	1 in 110	1 in 3,400
East Asian	~20k	1 in 330	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 590	none seen
Middle Eastern	~2,884	1 in 160	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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓