SLC22A25

Chr 11

solute carrier family 22 member 25

ENSG00000196600 UniProt: Q6T423 OMIM: 610792

The protein is predicted to function as a transmembrane transporter involved in organic anion transport across cellular membranes. This gene shows very low constraint against loss-of-function variants (LOEUF 1.579), and no definitive disease associations have been established in humans to date based on the available information.

OMIM ResearchSummary from RefSeq

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.58LOEUF

pLI 0.000

Z-score -0.49

OE 1.12 (0.80–1.58)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.44Z-score

OE missense 1.23 (1.13–1.34)

372 obs / 301.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.12 (0.80–1.58)

0≤0.351.4

Missense OE?1.23 (1.13–1.34)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 23 / 20.6Missense obs/exp: 372 / 301.7Syn Z: -1.44

Background carrier burden — how many people carry a rare variant somewhere in SLC22A25?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

848 rare PASS variants

Rare truncating (LoF)

1 in 170

110 rare PASS variants

Rare synonymous (reference)

1 in 240

299 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SLC22A25; 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 89	1 in 210
South Asian	~43k	1 in 64	1 in 240
Remaining (unassigned)	~30k	1 in 62	1 in 140
European (Finnish)	~27k	1 in 170	1 in 3,300
Admixed American	~22k	1 in 60	1 in 290
African / African American	~21k	1 in 55	1 in 300
East Asian	~20k	1 in 72	1 in 900
Ashkenazi Jewish	~13k	1 in 260	1 in 1,400
Middle Eastern	~2,884	1 in 88	1 in 280

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓