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]

218
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PSORS1C1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 108 VUS of 218 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.68Z-score
OE missense 0.78 (0.64–0.97)
62 obs / 79.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.13 (0.57–1.86)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.64–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.81
0≤1.21.6
LoF obs/exp: 5 / 4.4Missense obs/exp: 62 / 79.0Syn Z: 0.86

ClinVar Variant Classifications

218 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic7
VUS108
Likely Benign32
Benign60
Conflicting1
10
Pathogenic
7
Likely Pathogenic
108
VUS
32
Likely Benign
60
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
9
0
10
Likely Pathogenic
2
1
4
0
7
VUS
5
100
3
0
108
Likely Benign
0
14
3
15
32
Benign
0
24
23
13
60
Conflicting
—1
Total81394228218

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM
BEHCET SYNDROME
MIM #109650 · %
SEEK1 GENE
MIM #613525 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Challenges in the treatment of Rheumatoid Arthritis.
Conigliaro P et al.·Autoimmun Rev
2019Review
Investigating shared genetic architecture between major depressive disorder and central obesity.
Zhan Y et al.·Obesity (Silver Spring)
2025
A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis.
Chang YT et al.·Br J Dermatol
2005Cohort
Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis.
Ciccacci C et al.·Clin Exp Immunol
2016Cohort
Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis.
Conigliaro P et al.·PLoS One
2017Cohort
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients.
Sornsamdang G et al.·BMC Med Genomics
2024Cohort
Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD.
Wegermann K et al.·Hepatol Commun
2021
HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.
Borgiani P et al.·Eur J Clin Pharmacol
2014
Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease.
Hughes T et al.·Nat Genet
2013
The minor alleles HCP5 rs3099844 A and PSORS1C1 rs3131003 G are associated with allopurinol-induced severe cutaneous adverse reactions in Han Chinese: a multicentre retrospective case-control clinical study.
Cheng L et al.·Br J Dermatol
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Genotype Frequency of HLA-B*58:01 and Its Association with Paraclinical Characteristics and PSORS1C1 rs9263726 in Gout Patients.
Nguyen HT et al.·Diagnostics (Basel)
2025🔓 Open AccessCohort
Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is Associated with Autoimmune Thyroid Disease in a Chinese Han Population.
Jiang Y et al.·Immunol Invest
2022
HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.
Wiśniewski A et al.·Mol Genet Genomics
2018🔓 Open Access
PSORS1C1 Hypomethylation Is Associated with Allopurinol-Induced Severe Cutaneous Adverse Reactions during Disease Onset Period: A Multicenter Retrospective Case-Control Clinical Study in Han Chinese.
Sun B et al.·Front Pharmacol
2017🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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