BRF2

Chr 8

BRF2 general transcription factor IIIB subunit

Also known as: BRFU, TFIIIB50

NCBI Gene: 55290 ENSG00000104221 UniProt: Q9HAW0 OMIM: 607013

This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.20

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.20LOEUF

pLI 0.000

Z-score 0.78

OE 0.83 (0.58–1.20)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.91–1.11)

253 obs / 251.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.83 (0.58–1.20)

0≤0.351.4

Missense OE?1.00 (0.91–1.11)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 20 / 24.2Missense obs/exp: 253 / 251.9Syn Z: 0.03

Background carrier burden — how many people carry a rare variant somewhere in BRF2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 78

573 rare PASS variants

Rare truncating (LoF)

1 in 800

99 rare PASS variants

Rare synonymous (reference)

1 in 260

237 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BRF2. 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 170	1 in 860
South Asian	~43k	1 in 86	1 in 360
Remaining (unassigned)	~30k	1 in 76	1 in 630
European (Finnish)	~27k	1 in 320	1 in 1,700
Admixed American	~22k	1 in 120	1 in 1,600
African / African American	~21k	1 in 73	1 in 680
East Asian	~20k	1 in 120	1 in 790
Ashkenazi Jewish	~13k	1 in 620	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 79	≈ 1 in 720

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 ↓