TEX9

Chr 15

testis expressed 9

NCBI Gene: 374618 ENSG00000151575 UniProt: Q8N6V9

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

Research

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.57

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?

1.57LOEUF

pLI 0.000

Z-score -0.76

OE 1.16 (0.87–1.57)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.75Z-score

OE missense 1.15 (1.03–1.29)

218 obs / 189.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.16 (0.87–1.57)

0≤0.351.4

Missense OE?1.15 (1.03–1.29)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 30 / 25.8Missense obs/exp: 218 / 189.1Syn Z: -0.27

Background carrier burden — how many people carry a rare variant somewhere in TEX9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

564 rare PASS variants

Rare truncating (LoF)

1 in 580

178 rare PASS variants

Rare synonymous (reference)

1 in 300

206 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TEX9. 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 180	1 in 640
South Asian	~43k	1 in 110	1 in 250
Remaining (unassigned)	~30k	1 in 71	1 in 690
European (Finnish)	~27k	1 in 520	1 in 2,200
Admixed American	~22k	1 in 110	1 in 550
African / African American	~21k	1 in 86	1 in 450
East Asian	~20k	1 in 110	1 in 320
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 12,000
Middle Eastern	~2,884	1 in 130	1 in 430

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): 10 of 12 coding exons well covered in gnomAD exomes; exons 3, 11 marginal. Genomes: all 12.? see exons ↓