STON1-GTF2A1L

Chr 2

STON1-GTF2A1L readthrough

Also known as: SALF

STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.09
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.03
OE 0.83 (0.641.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.79Z-score
OE missense 1.32 (1.251.40)
779 obs / 588.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.641.09)
00.351.4
Missense OE?1.32 (1.251.40)
00.61.4
Synonymous OE?1.21
01.21.6
LoF obs/exp: 38 / 45.5Missense obs/exp: 779 / 588.5Syn Z: -2.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

STON1-GTF2A1L · 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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