GINS1

Chr 20AR

GINS complex subunit 1

Also known as: IMD55, PSF1

NCBI Gene: 9837ENSG00000101003UniProt: Q14691OMIM: 610608

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 55MIM #617827
AR

Clinical highlights

Gene-disease validity (ClinGen)
combined immunodeficiency due to GINS1 deficiency · ARModerateconsider for supplementary testing
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score 0.80
OE 0.77 (0.48–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.94 (0.80–1.11)
101 obs / 107.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.48–1.28)
0≤0.351.4
Missense OE?0.94 (0.80–1.11)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 11 / 14.3Missense obs/exp: 101 / 107.5Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GINS1 · 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