TAF1D

Chr 11

TATA-box binding protein associated factor, RNA polymerase I subunit D

Also known as: JOSD3, RAFI41, TAF(I)41, TAFI41

NCBI Gene: 79101 ENSG00000166012 UniProt: Q9H5J8

TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

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?

1.35LOEUF

pLI 0.000

Z-score 0.72

OE 0.77 (0.47–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.37Z-score

OE missense 0.91 (0.79–1.06)

126 obs / 138.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.47–1.35)

0≤0.351.4

Missense OE?0.91 (0.79–1.06)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 9 / 11.6Missense obs/exp: 126 / 138.1Syn Z: -0.09

Background carrier burden — how many people carry a rare variant somewhere in TAF1D?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

436 rare PASS variants

Rare truncating (LoF)

1 in 460

140 rare PASS variants

Rare synonymous (reference)

1 in 350

130 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TAF1D; this gene does not show strong loss-of-function constraint by this measure. 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 140	1 in 520
South Asian	~43k	1 in 120	1 in 280
Remaining (unassigned)	~30k	1 in 78	1 in 260
European (Finnish)	~27k	1 in 910	1 in 5,300
Admixed American	~22k	1 in 81	1 in 370
African / African American	~21k	1 in 89	1 in 810
East Asian	~20k	1 in 92	1 in 670
Ashkenazi Jewish	~13k	1 in 450	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 99	≈ 1 in 710

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 ↓