PSORS1C1

Chr 6

psoriasis susceptibility 1 candidate 1

Also known as: C6orf16, SEEK1

NCBI Gene: 170679ENSG00000204540UniProt: Q9UIG5

This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.86
LOEUF
Multiple*
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?
1.86LOEUF
pLI 0.000
Z-score -0.25
OE 1.13 (0.57–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.78 (0.64–0.97)
62 obs / 79.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.13 (0.57–1.86)
0≤0.351.4
Missense OE?0.78 (0.64–0.97)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 5 / 4.4Missense obs/exp: 62 / 79.0Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PSORS1C1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients