GAS1
Chr 9growth arrest specific 1
Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]
Clinical Summary— GAS1
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Gene-Disease Validity (ClinGen)
holoprosencephaly · ADLimited
Limited evidence — not for standalone diagnostic reporting
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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
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ClinVar Variants
26 Pathogenic / Likely Pathogenic· 94 VUS of 162 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
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.
0.53LOEUF
pLI 0.819
Z-score 2.20
OE 0.00 (0.00–0.53)
More LoF-intolerant than ~75% of genes
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.
0.75Z-score
OE missense 0.82 (0.70–0.96)
110 obs / 134.4 exp
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.0.00 (0.00–0.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.82 (0.70–0.96)
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.1.56
0≤1.21.6
LoF obs/exp: 0 / 5.6Missense obs/exp: 110 / 134.4Syn Z: -3.42
ClinVar Variant Classifications
162 submitted variants in ClinVar
Classification Summary
Pathogenic23
Likely Pathogenic3
VUS94
Likely Benign32
Benign9
Conflicting1
23
Pathogenic
3
Likely Pathogenic
94
VUS
32
Likely Benign
9
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 81 | 7 | 5 | 94 |
Likely Benign | 0 | 3 | 1 | 28 | 32 |
Benign | 0 | 1 | 6 | 2 | 9 |
Conflicting | — | 1 | |||
| Total | 1 | 85 | 40 | 35 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
GAS1 Promotes Ferroptosis of Liver Cells in Acetaminophen-Induced Acute Liver Failure
Tao J et al.·Int J Med Sci
2023
GAS1: A New beta-Glucan Immunostimulant Candidate to Increase Rainbow Trout (Oncorhynchus mykiss) Resistance to Bacterial Infections With Aeromonas salmonicida achromogenes
Cornet V et al.·Front Immunol
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Gas1 Regulates Patterning of the Murine and Human Dentitions through Sonic Hedgehog.
Seppala M et al.·J Dent Res
2022
Atosiban-conjugated 3WJ-pRNA nanoparticles delivering GAS1-enhanced extracellular vesicles: targeting the decidua to combat recurrent miscarriage.
Li YX et al.·J Nanobiotechnology
2025
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L et al.·Br J Dermatol
2024Cohort
[Expressions and clinical significance of GAS1, IL-1RAP and PRF1 in patients with ALK positive anaplastic large cell lymphoma].
Jiang Y et al.·Zhonghua Xue Ye Xue Za Zhi
2018Cohort
Vasostatin-2 attenuates injury-induced neointimal hyperplasia through the ACE2/MasR/PPARγ/NR1D1/Gas1 axis.
Chen Q et al.·Cardiovasc Res
2025
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Integrative analysis and experiments to explore GAS1 as a prognostic target for ovarian cancer based on angiogenesis-related genes.
Zhai L et al.·J Ovarian Res
2025Open Access
Gas1 regulates embryonic tongue muscle proliferation, differentiation and maturation via alternative pathways to Hedgehog signaling.
Audu GC et al.·Development
2025Open Access
Single-Cell RNA Sequencing of Murine Limbal Epithelia Reveals Gas1 as a Novel Stem/Progenitor Cell Marker for the Corneal Epithelium.
Richardson A et al.·Cornea
2026Open Access
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools