ST7

Chr 7

suppression of tumorigenicity 7

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

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
0.26
LOEUF· LoF intol.
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.26LOEUF
pLI 0.997
Z-score 4.83
OE 0.12 (0.060.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.38Z-score
OE missense 0.46 (0.400.53)
145 obs / 313.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.12 (0.060.26)
00.351.4
Missense OE?0.46 (0.400.53)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 4 / 34.7Missense obs/exp: 145 / 313.3Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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