TAF7L

Chr X

TATA-box binding protein associated factor 7 like

Also known as: CT40, TAF2Q

NCBI Gene: 54457 ENSG00000102387 UniProt: Q5H9L4

The protein functions as a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID, which mediates promoter responses to various transcriptional activators and repressors. Mutations cause male infertility due to impaired spermatogenesis, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

GeneReviews 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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

📖

GeneReview available — TAF7L

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — X-linked: males carry a single copy

LoF Constraint?

0.27LOEUF

pLI 0.986

Z-score 3.64

OE 0.06 (0.02–0.27)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

0.14Z-score

OE missense 0.97 (0.85–1.10)

169 obs / 174.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.06 (0.02–0.27)

0≤0.351.4

Missense OE?0.97 (0.85–1.10)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 1 / 17.4Missense obs/exp: 169 / 174.4Syn Z: 0.76

Background carrier burden — how many people carry a rare variant somewhere in TAF7L?

gnomAD v4 · ~732k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 280

382 rare PASS variants

Rare truncating (LoF)

1 in 11,000

25 rare PASS variants

Rare synonymous (reference)

1 in 280

135 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TAF7L. 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)	~561k	1 in 350	1 in 8,200
South Asian	~36k	1 in 200	≈ 1 in 12,000
Remaining (unassigned)	~31k	1 in 210	≈ 1 in 6,200
European (Finnish)	~27k	1 in 300	≈ 1 in 27,000
Admixed American	~23k	1 in 160	≈ 1 in 21,000
African / African American	~21k	1 in 190	≈ 1 in 16,000
East Asian	~20k	1 in 210	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 510	none seen
Middle Eastern	~2,758	1 in 190	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 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓