TEX36

Chr 10

testis expressed 36

Also known as: C10orf122, bA383C5.1

NCBI Gene: 387718 ENSG00000175018 UniProt: Q5VZQ5

TEX36 encodes a testis-expressed protein involved in spermatogenesis and male fertility. Mutations cause primary ciliary dyskinesia with male infertility, characterized by chronic respiratory infections, bronchiectasis, and situs abnormalities due to defective ciliary function. This gene shows minimal constraint against loss-of-function variants and follows an autosomal recessive inheritance pattern.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.60

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.60LOEUF

pLI 0.000

Z-score 0.41

OE 0.83 (0.46–1.60)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.75Z-score

OE missense 0.79 (0.66–0.95)

81 obs / 102.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.46–1.60)

0≤0.351.4

Missense OE?0.79 (0.66–0.95)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 6 / 7.2Missense obs/exp: 81 / 102.4Syn Z: 0.68

Background carrier burden — how many people carry a rare variant somewhere in TEX36?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 85

326 rare PASS variants

Rare truncating (LoF)

1 in 2,700

49 rare PASS variants

Rare synonymous (reference)

1 in 530

130 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TEX36. 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)	~540k	1 in 190	1 in 4,200
South Asian	~40k	1 in 230	1 in 900
Remaining (unassigned)	~29k	1 in 88	1 in 2,200
European (Finnish)	~25k	1 in 230	none seen
African / African American	~21k	1 in 68	1 in 1,400
East Asian	~18k	1 in 160	1 in 500
Admixed American	~18k	1 in 150	1 in 3,600
Ashkenazi Jewish	~13k	1 in 2,500	none seen
Middle Eastern	~2,852	1 in 120	≈ 1 in 2,800

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 ↓