ST7

Chr 7

suppression of tumorigenicity 7

Also known as: ETS7q, FAM4A, FAM4A1, HELG, RAY1, SEN4, TSG7

NCBI Gene: 7982ENSG00000004866UniProt: Q9NRC1

The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]

0
ClinVar variants
0
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— ST7
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
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.
0.26LOEUF
pLI 0.997
Z-score 4.83
OE 0.12 (0.06–0.26)
Highly constrained

Highly LoF-intolerant (top ~10% 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.
3.38Z-score
OE missense 0.46 (0.40–0.53)
145 obs / 313.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

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.0.12 (0.06–0.26)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.46 (0.40–0.53)
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.0.95
0≤1.21.6
LoF obs/exp: 4 / 34.7Missense obs/exp: 145 / 313.3Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ST7 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.·Cell Rep
2015
Infection with pathogenic Blastocystis ST7 is associated with decreased bacterial diversity and altered gut microbiome profiles in diarrheal patients.
Deng L et al.·Parasit Vectors
2022Cohort
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.
Dos Santos W et al.·World J Gastroenterol
2025Cohort
Machine learning on thyroid disease: a review.
Lee KS et al.·Front Biosci (Landmark Ed)
2022Review
WNT2B: comparative integromics and clinical applications (Review).
Katoh M·Int J Mol Med
2005Review
Interactions between a pathogenic Blastocystis subtype and gut microbiota: in vitro and in vivo studies.
Yason JA et al.·Microbiome
2019
Clinical, experimental, and genomic differences between intermediately pathogenic, highly pathogenic, and epidemic Streptococcus suis.
Ye C et al.·J Infect Dis
2009
The genetics of autism.
Muhle R et al.·Pediatrics
2004Review
The synthesis of extracellular vesicles by the protistan parasite Blastocystis.
Leonardi SS et al.·Front Cell Infect Microbiol
2022
Implication of genotypes for prognosis of Candida glabrata bloodstream infections.
Chen PY et al.·J Antimicrob Chemother
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Mechanism of LncRNA ST7-AS2/RBM22/SOX2 axis regulating vasculogenic mimicry of glioma.
Liu L et al.·Cell Signal
2026Functional
Novel ST-Specific Molecular Target-Based Method for Simultaneous and Quantitative Detection of Staphylococcus aureus ST7, ST188 and ST398.
Zhou B et al.·Molecules
2025🔓 Open Access
A small RNA from Streptococcus suis epidemic ST7 strain promotes bacterial survival in host blood and brain by enhancing oxidative stress resistance.
Liang Z et al.·Virulence
2025🔓 Open Access
[Deep needling at Xiaguan (ST7) combined with electroacupuncture and warm acupuncture for adenoid hypertrophy in children: a randomized controlled trial].
Deng C et al.·Zhongguo Zhen Jiu
2025
Research on Correlations of lncRNA ST7-AS1 with Progression and Therapeutic Targets of Esophageal Cancer.
Lin X et al.·Turk J Gastroenterol
2024🔓 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.

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External Resources

Links to major genomics databases and tools